Curator Name UniProt ID NCBI Gene ID Gene Name Species Name Taxonomy ID Data Type Data Value GO Term GO ID Uberon Term Uberon ID BRENDA Tissue Ontology Term BRENDA Tissue Ontology ID Anatomy Ontology Term Anatomy Ontology ID Phenotype Ontology Term Phenotype Ontology ID Developmental Stage Term (BRENDA) Developmental Stage ID (BRENDA) Cell Type Ontology Term (CTO or CL) Cell Type Ontology ID (CTO or CL) Cell Line Ontology Term (CLO) Cell Line Ontology ID (CLO) PATO Qualifier PATO ID OMIM ID Human Disease Ontology Term Human Disease Ontology ID SNOMED Term SNOMED ID ChEBI Chemical Term ChEBI Chemical ID Secondary Source IDs Secondary Source Notes Reviewed (Y/N) Use (Y/N) Evidence Code Primary Source Secondary Source PENTACON Notes Gene Set Secondary Source Version Date Secondary Source Version PENTACON Annotation No Rose/Faith P24752 38 ACAT1 Homo sapiens 9606 Comment/Involvement in disease 85; In 3KTD. MIM:203750 beta-ketothiolase deficiency DOID:14723 VAR_007497 Y Y ECO:0000311 UniProtKB #ORIGINAL data type: Feature/sequence variant AAP, DGA 11/28/2012 141 3300006019 Rose/Faith P24752 38 ACAT1 Homo sapiens 9606 Comment/Involvement in disease A301P; In 3KTD; 5% normal activity. MIM:203750 beta-ketothiolase deficiency DOID:14723 VAR_007503 Y Y ECO:0000006 PubMed:7728148 UniProtKB #ORIGINAL data type: Feature/sequence variant AAP, DGA 11/28/2012 141 3300006021 Rose/Faith P24752 38 ACAT1 Homo sapiens 9606 Comment/Involvement in disease A333P; In 3KTD; no activity. MIM:203750 beta-ketothiolase deficiency DOID:14723 VAR_007505 Y Y ECO:0000006 PubMed:9744475 UniProtKB #ORIGINAL data type: Feature/sequence variant AAP, DGA 11/28/2012 141 3300006023 Rose/Faith P24752 38 ACAT1 Homo sapiens 9606 Comment/Involvement in disease A380T; In 3KTD; 7% normal activity. MIM:203750 beta-ketothiolase deficiency DOID:14723 VAR_007507 Y Y ECO:0000006 PubMed:1715688 UniProtKB #ORIGINAL data type: Feature/sequence variant AAP, DGA 11/28/2012 141 3300006025 Rose/Faith P24752 38 ACAT1 Homo sapiens 9606 Comment/Involvement in disease G152A; In 3KTD. MIM:203750 beta-ketothiolase deficiency DOID:14723 VAR_007499 Y Y ECO:0000311 UniProtKB #ORIGINAL data type: Feature/sequence variant AAP, DGA 11/28/2012 141 3300006027 Rose/Faith P24752 38 ACAT1 Homo sapiens 9606 Comment/Involvement in disease G183R; In 3KTD; no activity. MIM:203750 beta-ketothiolase deficiency DOID:14723 VAR_007501 Y Y ECO:0000006 PubMed:1346617 UniProtKB #ORIGINAL data type: Feature/sequence variant AAP, DGA 11/28/2012 141 3300006029 Rose/Faith P24752 38 ACAT1 Homo sapiens 9606 Comment/Involvement in disease G379V; In 3KTD. MIM:203750 beta-ketothiolase deficiency DOID:14723 VAR_007506 Y Y ECO:0000311 UniProtKB #ORIGINAL data type: Feature/sequence variant AAP, DGA 11/28/2012 141 3300006031 Rose/Faith P24752 38 ACAT1 Homo sapiens 9606 Comment/Involvement in disease I312T; In 3KTD; 10% activity. MIM:203750 beta-ketothiolase deficiency DOID:14723 VAR_007504 Y Y ECO:0000006 PubMed:9744475 UniProtKB #ORIGINAL data type: Feature/sequence variant AAP, DGA 11/28/2012 141 3300006033 Rose/Faith P24752 38 ACAT1 Homo sapiens 9606 Comment/Involvement in disease N158D; In 3KTD; no activity. MIM:203750 beta-ketothiolase deficiency DOID:14723 VAR_007500 Y Y ECO:0000006 PubMed:7728148 UniProtKB #ORIGINAL data type: Feature/sequence variant AAP, DGA 11/28/2012 141 3300006035 Rose/Faith P24752 38 ACAT1 Homo sapiens 9606 Comment/Involvement in disease N93S; In 3KTD; 10% activity. MIM:203750 beta-ketothiolase deficiency DOID:14723 VAR_007498 Y Y ECO:0000006 PubMed:9744475 UniProtKB #ORIGINAL data type: Feature/sequence variant AAP, DGA 11/28/2012 141 3300006037 Rose/Faith P24752 38 ACAT1 Homo sapiens 9606 Comment/Involvement in disease T297M; In 3KTD; 10% normal activity. MIM:203750 beta-ketothiolase deficiency DOID:14723 VAR_007502 Y Y ECO:0000006 PubMed:7728148 UniProtKB #ORIGINAL data type: Feature/sequence variant AAP, DGA 11/28/2012 141 3300006039 Faith Q8WXI4 26027 ACOT11 Homo sapiens 9606 Comment/tissue specificity Q8WXI4-1;Isoform 1;BFIT1 skeletal muscle BTO:0001103 Y Y UniProtKB full length#ORIGINAL data type: Comment/alternative products/isoform AAP 5/1/2013 113 3300006041 Faith Q8WXI4 26027 ACOT11 Homo sapiens 9606 Comment/tissue specificity Q8WXI4-1;Isoform 1;BFIT1 skeletal muscle tissue UBERON:0001134 Y Y UniProtKB full length#ORIGINAL data type: Comment/alternative products/isoform AAP 5/1/2013 113 3300006042 Faith Q8WXI4 26027 ACOT11 Homo sapiens 9606 Comment/tissue specificity Q8WXI4-1;Isoform 1;BFIT1 liver BTO:0000759 Y Y UniProtKB full length#ORIGINAL data type: Comment/alternative products/isoform AAP 5/1/2013 113 3300006043 Faith Q8WXI4 26027 ACOT11 Homo sapiens 9606 Comment/tissue specificity Q8WXI4-1;Isoform 1;BFIT1 liver UBERON:0002107 Y Y UniProtKB full length#ORIGINAL data type: Comment/alternative products/isoform AAP 5/1/2013 113 3300006044 Faith Q8WXI4 26027 ACOT11 Homo sapiens 9606 Comment/tissue specificity Q8WXI4-1;Isoform 1;BFIT1 testis BTO:0001363 Y Y UniProtKB full length#ORIGINAL data type: Comment/alternative products/isoform AAP 5/1/2013 113 3300006045 Faith Q8WXI4 26027 ACOT11 Homo sapiens 9606 Comment/tissue specificity Q8WXI4-1;Isoform 1;BFIT1 testis UBERON:0000473 Y Y UniProtKB full length#ORIGINAL data type: Comment/alternative products/isoform AAP 5/1/2013 113 3300006046 Faith Q8WXI4 26027 ACOT11 Homo sapiens 9606 Comment/tissue specificity Q8WXI4-1;Isoform 1;BFIT1 stomach BTO:0001307 Y Y UniProtKB full length#ORIGINAL data type: Comment/alternative products/isoform AAP 5/1/2013 113 3300006047 Faith Q8WXI4 26027 ACOT11 Homo sapiens 9606 Comment/tissue specificity Q8WXI4-1;Isoform 1;BFIT1 stomach UBERON:0000945 Y Y UniProtKB full length#ORIGINAL data type: Comment/alternative products/isoform AAP 5/1/2013 113 3300006048 Faith Q8WXI4 26027 ACOT11 Homo sapiens 9606 Comment/tissue specificity Q8WXI4-1;Isoform 1;BFIT1 spleen BTO:0001281 Y Y UniProtKB full length#ORIGINAL data type: Comment/alternative products/isoform AAP 5/1/2013 113 3300006049 Faith Q8WXI4 26027 ACOT11 Homo sapiens 9606 Comment/tissue specificity Q8WXI4-1;Isoform 1;BFIT1 spleen UBERON:0002106 Y Y UniProtKB full length#ORIGINAL data type: Comment/alternative products/isoform AAP 5/1/2013 113 3300006050 Faith Q8WXI4 26027 ACOT11 Homo sapiens 9606 Comment/tissue specificity Q8WXI4-1;Isoform 1;BFIT1 lung BTO:0000763 Y Y UniProtKB full length#ORIGINAL data type: Comment/alternative products/isoform AAP 5/1/2013 113 3300006051 Faith Q8WXI4 26027 ACOT11 Homo sapiens 9606 Comment/tissue specificity Q8WXI4-1;Isoform 1;BFIT1 lung UBERON:0002048 Y Y UniProtKB full length#ORIGINAL data type: Comment/alternative products/isoform AAP 5/1/2013 113 3300006052 Faith Q8WXI4 26027 ACOT11 Homo sapiens 9606 Comment/tissue specificity Q8WXI4-1;Isoform 1;BFIT1 brain BTO:0000142 Y Y UniProtKB full length#ORIGINAL data type: Comment/alternative products/isoform AAP 5/1/2013 113 3300006053 Faith Q8WXI4 26027 ACOT11 Homo sapiens 9606 Comment/tissue specificity Q8WXI4-1;Isoform 1;BFIT1 brain UBERON:0000955 Y Y UniProtKB full length#ORIGINAL data type: Comment/alternative products/isoform AAP 5/1/2013 113 3300006054 Faith Q8WXI4 26027 ACOT11 Homo sapiens 9606 Comment/tissue specificity Q8WXI4-2;Isoform 2;BFIT2 kidney BTO:0000671 VSP_000160 Y Y UniProtKB #ORIGINAL data type: Comment/alternative products/isoform AAP 5/1/2013 113 3300006055 Faith Q8WXI4 26027 ACOT11 Homo sapiens 9606 Comment/tissue specificity Q8WXI4-2;Isoform 2;BFIT2 kidney UBERON:0002113 VSP_000160 Y Y UniProtKB #ORIGINAL data type: Comment/alternative products/isoform AAP 5/1/2013 113 3300006056 Faith Q8WXI4 26027 ACOT11 Homo sapiens 9606 Comment/tissue specificity Q8WXI4-2;Isoform 2;BFIT2 uterus BTO:0001424 VSP_000160 Y Y UniProtKB #ORIGINAL data type: Comment/alternative products/isoform AAP 5/1/2013 113 3300006057 Faith Q8WXI4 26027 ACOT11 Homo sapiens 9606 Comment/tissue specificity Q8WXI4-2;Isoform 2;BFIT2 uterus UBERON:0000995 VSP_000160 Y Y UniProtKB #ORIGINAL data type: Comment/alternative products/isoform AAP 5/1/2013 113 3300006058 Faith Q8WXI4 26027 ACOT11 Homo sapiens 9606 Comment/tissue specificity Q8WXI4-2;Isoform 2;BFIT2 white adipose tissue BTO:0001456 VSP_000160 Y Y UniProtKB #ORIGINAL data type: Comment/alternative products/isoform AAP 5/1/2013 113 3300006059 Faith Q8WXI4 26027 ACOT11 Homo sapiens 9606 Comment/tissue specificity Q8WXI4-2;Isoform 2;BFIT2 white adipose tissue UBERON:0001347 VSP_000160 Y Y UniProtKB #ORIGINAL data type: Comment/alternative products/isoform AAP 5/1/2013 113 3300006060 Faith O00154 11332 ACOT7 Homo sapiens 9606 Comment/tissue specificity O00154-4;Isoform 4;hBACHa brain BTO:0000142 VSP_000152 Major isoform. Y Y UniProtKB Isoform 4 is expressed exclusively in brain.#ORIGINAL data type: Comment/alternative products/isoform AAP 6/26/2013 124 3300006079 Faith O00154 11332 ACOT7 Homo sapiens 9606 Comment/tissue specificity O00154-4;Isoform 4;hBACHa brain UBERON:0000955 VSP_000152 Major isoform. Y Y UniProtKB Isoform 4 is expressed exclusively in brain.#ORIGINAL data type: Comment/alternative products/isoform AAP 6/26/2013 124 3300006080 Katie O60488 2182 ACSL4 Homo sapiens 9606 Comment/tissue specificity ACSL4 splice variant 1 (NM_004458) was detected in cultured aortic smooth muscle cells and was more abundantly expressed than variant 2 (long form) aortic smooth muscle BTO:0001685 vascular associated smooth muscle cell CL:0000359 Y Y PubMed:21242590 PENTACON Splice variant 1 (short) was more abundantly expressed than variant 2 (long) in aortic smooth muscle cells AAP 4/21/2014 3 3300006092 Mike O60488 2182 ACSL4 Homo sapiens 9606 Comment/Involvement in disease R133C; In a colorectal cancer sample; somatic mutation. colorectal cancer DOID:9256 VAR_036376 Y Y ECO:0000006 PubMed:16959974 UniProtKB #ORIGINAL data type: Feature/sequence variant AAP 11/28/2012 131 3300006094 Mike O60488 2182 ACSL4 Homo sapiens 9606 Comment/Involvement in disease R570S; In MRX63. MIM:300387 intellectual disability DOID:1059 VAR_013180 Y Y ECO:0000006 PubMed:11889465 UniProtKB #ORIGINAL data type: Feature/sequence variant AAP 11/28/2012 131 3300006096 Katie Q9ULC5 51703 ACSL5 Homo sapiens 9606 Comment/Involvement in disease G466D; In a colorectal cancer sample; somatic mutation. colorectal cancer DOID:9256 VAR_036378 Y Y ECO:0000006 PubMed:16959974 UniProtKB #ORIGINAL data type: Feature/sequence variant AAP 11/28/2012 121 3300006101 Katie Q9ULC5 51703 ACSL5 Homo sapiens 9606 Comment/Involvement in disease K388R; In a colorectal cancer sample; somatic mutation. colorectal cancer DOID:9256 VAR_036377 Y Y ECO:0000006 PubMed:16959974 UniProtKB #ORIGINAL data type: Feature/sequence variant AAP 11/28/2012 121 3300006103 Mike O15120 10555 AGPAT2 Homo sapiens 9606 Comment/Involvement in disease 140; In CGL1. MIM:608594 congenital generalized lipodystrophy DOID:0050585 VAR_017326 Y Y ECO:0000006 PubMed:11967537 UniProtKB #ORIGINAL data type: Feature/sequence variant AAP 1/9/2013 119 3300006118 Mike O15120 10555 AGPAT2 Homo sapiens 9606 Comment/Involvement in disease A239V; In CGL1. MIM:608594 congenital generalized lipodystrophy DOID:0050585 VAR_017325 Y Y ECO:0000006 PubMed:11967537 UniProtKB #ORIGINAL data type: Feature/sequence variant AAP 1/9/2013 119 3300006120 Mike O15120 10555 AGPAT2 Homo sapiens 9606 Comment/Involvement in disease G136R; In CGL1. MIM:608594 congenital generalized lipodystrophy DOID:0050585 VAR_017328 Y Y ECO:0000006 PubMed:11967537 UniProtKB #ORIGINAL data type: Feature/sequence variant AAP 1/9/2013 119 3300006122 Mike O15120 10555 AGPAT2 Homo sapiens 9606 Comment/Involvement in disease L228P; In CGL1. MIM:608594 congenital generalized lipodystrophy DOID:0050585 VAR_017327 Y Y ECO:0000006 PubMed:11967537 UniProtKB #ORIGINAL data type: Feature/sequence variant AAP 1/9/2013 119 3300006124 Mike O75342 242 ALOX12B Homo sapiens 9606 Comment/Involvement in disease H578Q; In NCIE. MIM:242100 congenital ichthyosiform erythroderma DOID:1699 VAR_015174 Y Y ECO:0000006 PubMed:11773004 UniProtKB #ORIGINAL data type: Feature/sequence variant AAP 11/28/2012 116 3300006151 Mike O75342 242 ALOX12B Homo sapiens 9606 Comment/Involvement in disease L426P; In NCIE. MIM:242100 congenital ichthyosiform erythroderma DOID:1699 VAR_015173 Y Y ECO:0000006 PubMed:11773004 UniProtKB #ORIGINAL data type: Feature/sequence variant AAP 11/28/2012 116 3300006153 Katie/Rose Q9BYJ1 59344 ALOXE3 Homo sapiens 9606 Comment/Involvement in disease R396S; In NCIE. MIM:242100 congenital ichthyosiform erythroderma DOID:1699 VAR_015175 Y Y ECO:0000006 PubMed:11773004 UniProtKB #ORIGINAL data type: Feature/sequence variant AAP 11/28/2012 104 3300006194 Katie/Rose Q9BYJ1 59344 ALOXE3 Homo sapiens 9606 Comment/Involvement in disease V500F; In NCIE. MIM:242100 congenital ichthyosiform erythroderma DOID:1699 VAR_015176 Y Y ECO:0000006 PubMed:11773004 UniProtKB #ORIGINAL data type: Feature/sequence variant AAP 11/28/2012 104 3300006196 Mike P05177 1544 CYP1A2 Homo sapiens 9606 Comment/Involvement in disease The CYP1A2*1F allele which is quite common (40 to 50%) is due to a substitution of a base in the non-coding region of the CYP1A2 gene and has the effect of decreasing the enzyme inducibility. Individuals who are homozygous for the CYP1A2*1F allele are 'slow' caffeine metabolizers. Thus for these individual increased intake of caffeine seems to be associated with a concomitant increase in the risk of non-fatal myocardial infraction (MI). myocardial infarction DOID:5844 Y Y ECO:0000311 UniProtKB leaving this intact to show the original annotation#ORIGINAL data type: Comment/polymorphism AAP, DGA 11/28/2012 140 3300006232 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Comment/Involvement in disease A119S; In allele CYP1B1*2, allele CYP1B1*6 and allele CYP1B1*7; significantly associated with breast or lung cancer; no significant change in 17beta-estradiol 2- and 4-hydroxylation activities and 17beta-estradiol affinity; 1.5-fold reduction in testosterone affinity but nearly no change in testosterone 6beta-hydroxylation activity; 2-fold increase in progesterone 6beta- and 16alpha-hydroxylation activities and 5-fold reduction in progesterone affinity; dbSNP:rs1056827. breast cancer DOID:1612 VAR_011753 rs1056827 Y Y ECO:0000006 PubMed:10426814 PubMed:10655546 PubMed:11527932 PubMed:12036985 PubMed:14635112 PubMed:12525557 PubMed:15475877 PubMed:16688110 submission: PubMed:11854439 PubMed:10739169 UniProtKB Variant has mixed effects on enzyme activity, did not change qualifier#ORIGINAL data type: Feature/sequence variant AAP 11/28/2012 148 3300006259 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Comment/Involvement in disease A119S; In allele CYP1B1*2, allele CYP1B1*6 and allele CYP1B1*7; significantly associated with breast or lung cancer; no significant change in 17beta-estradiol 2- and 4-hydroxylation activities and 17beta-estradiol affinity; 1.5-fold reduction in testosterone affinity but nearly no change in testosterone 6beta-hydroxylation activity; 2-fold increase in progesterone 6beta- and 16alpha-hydroxylation activities and 5-fold reduction in progesterone affinity; dbSNP:rs1056827. lung cancer DOID:1324 VAR_011753 rs1056827 Y Y ECO:0000006 PubMed:10426814 PubMed:10655546 PubMed:11527932 PubMed:12036985 PubMed:14635112 PubMed:12525557 PubMed:15475877 PubMed:16688110 submission: PubMed:11854439 PubMed:10739169 UniProtKB Variant has mixed effects on enzyme activity, did not change qualifier#ORIGINAL data type: Feature/sequence variant AAP 11/28/2012 148 3300006261 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Comment/Involvement in disease D374N; In GLC3A; dbSNP:rs28936413. MIM:231300 primary congenital glaucoma DOID:0050593 VAR_001246 rs28936413 Y Y ECO:0000006 PubMed:9463332 PubMed:10655546 UniProtKB #ORIGINAL data type: Feature/sequence variant AAP 11/28/2012 148 3300006266 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Comment/Involvement in disease R368H; In GLC3A and glaucoma; digenic early-onset; this mutation may act as a modifier of MYOC mutant phenotype; dbSNP:rs28936414. MIM:231300 primary congenital glaucoma DOID:0050593 VAR_016034 rs28936414 Y Y ECO:0000006 PubMed:10655546 PubMed:11774072 PubMed:11980847 PubMed:12036985 PubMed:15475877 PubMed:16490498 PubMed:16735994 PubMed:16688110 UniProtKB #ORIGINAL data type: Feature/sequence variant AAP 11/28/2012 148 3300006268 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Comment/Involvement in disease G61E; In GLC3A and POAG; allele CYP1B1*12; reduces enzymatic activity; dbSNP:rs28936700. MIM:231300 primary congenital glaucoma DOID:0050593 VAR_001244 rs28936700 Y Y ECO:0000006 PubMed:9463332 PubMed:9497261 PubMed:10655546 PubMed:11980847 PubMed:16490498 PubMed:16735994 PubMed:18470941 PubMed:16862072 UniProtKB #ORIGINAL data type: Feature/sequence variant AAP 11/28/2012 148 3300006270 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Comment/Involvement in disease G61E; In GLC3A and POAG; allele CYP1B1*12; reduces enzymatic activity; dbSNP:rs28936700. MIM:137760 primary open angle glaucoma DOID:1070 VAR_001244 rs28936700 Y Y ECO:0000006 PubMed:9463332 PubMed:9497261 PubMed:10655546 PubMed:11980847 PubMed:16490498 PubMed:16735994 PubMed:18470941 PubMed:16862072 UniProtKB #ORIGINAL data type: Feature/sequence variant AAP 11/28/2012 148 3300006272 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Comment/Involvement in disease R469W; In GLC3A; allele CYP1B1*25; dbSNP:rs28936701. MIM:231300 primary congenital glaucoma DOID:0050593 VAR_001247 rs28936701 Y Y ECO:0000006 PubMed:9463332 PubMed:9497261 PubMed:10655546 PubMed:16735994 UniProtKB #ORIGINAL data type: Feature/sequence variant AAP 11/28/2012 148 3300006274 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Comment/Involvement in disease A443G; In GLC3A and POAG; allele CYP1B1*7; unproven pathogenicity; dbSNP:rs4986888. MIM:231300 primary congenital glaucoma DOID:0050593 VAR_018774 rs4986888 Y Y ECO:0000006 PubMed:12036985 PubMed:15342693 PubMed:16862072 PubMed:11854439 UniProtKB #ORIGINAL data type: Feature/sequence variant AAP 11/28/2012 148 3300006277 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Comment/Involvement in disease A443G; In GLC3A and POAG; allele CYP1B1*7; unproven pathogenicity; dbSNP:rs4986888. MIM:137760 primary open angle glaucoma DOID:1070 VAR_018774 rs4986888 Y Y ECO:0000006 PubMed:12036985 PubMed:15342693 PubMed:16862072 PubMed:11854439 UniProtKB #ORIGINAL data type: Feature/sequence variant AAP 11/28/2012 148 3300006279 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Comment/Involvement in disease G365W; In GLC3A; allele CYP1B1*18; dbSNP:rs55771538. MIM:231300 primary congenital glaucoma DOID:0050593 VAR_001245 rs55771538 Y Y ECO:0000006 PubMed:9497261 UniProtKB #ORIGINAL data type: Feature/sequence variant AAP 11/28/2012 148 3300006281 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Comment/Involvement in disease E387K; In GLC3A and POAG; allele CYP1B1*20; dbSNP:rs55989760. MIM:231300 primary congenital glaucoma DOID:0050593 VAR_008352 rs55989760 Y Y ECO:0000006 PubMed:9497261 PubMed:10227395 PubMed:12036985 PubMed:14635112 PubMed:15342693 PubMed:16735994 UniProtKB #ORIGINAL data type: Feature/sequence variant AAP 11/28/2012 148 3300006283 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Comment/Involvement in disease E387K; In GLC3A and POAG; allele CYP1B1*20; dbSNP:rs55989760. MIM:137760 primary open angle glaucoma DOID:1070 VAR_008352 rs55989760 Y Y ECO:0000006 PubMed:9497261 PubMed:10227395 PubMed:12036985 PubMed:14635112 PubMed:15342693 PubMed:16735994 UniProtKB #ORIGINAL data type: Feature/sequence variant AAP 11/28/2012 148 3300006285 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Comment/Involvement in disease R390H; In GLC3A; allele CYP1B1*21; dbSNP:rs56010818. MIM:231300 primary congenital glaucoma DOID:0050593 VAR_008353 rs56010818 Y Y ECO:0000006 PubMed:9497261 PubMed:15342693 PubMed:15475877 UniProtKB #ORIGINAL data type: Feature/sequence variant AAP 11/28/2012 148 3300006287 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Comment/Involvement in disease P437L; In GLC3A; allele CYP1B1*23; dbSNP:rs56175199. MIM:231300 primary congenital glaucoma DOID:0050593 VAR_008354 rs56175199 Y Y ECO:0000006 PubMed:9497261 PubMed:12036985 PubMed:15475877 UniProtKB #ORIGINAL data type: Feature/sequence variant AAP 11/28/2012 148 3300006289 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Comment/Involvement in disease E229K; In GLC3A and POAG; juvenile-onset; hypomorphic allele; reduces the abundance of the enzyme; dbSNP:rs57865060. MIM:231300 primary congenital glaucoma DOID:0050593 VAR_054243 rs57865060 Y Y ECO:0000006 PubMed:11980847 PubMed:14635112 PubMed:15342693 PubMed:15475877 PubMed:16735994 PubMed:18470941 PubMed:16688110 PubMed:16862072 UniProtKB #ORIGINAL data type: Feature/sequence variant AAP 11/28/2012 148 3300006292 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Comment/Involvement in disease E229K; In GLC3A and POAG; juvenile-onset; hypomorphic allele; reduces the abundance of the enzyme; dbSNP:rs57865060. MIM:137760 primary open angle glaucoma DOID:1070 VAR_054243 rs57865060 Y Y ECO:0000006 PubMed:11980847 PubMed:14635112 PubMed:15342693 PubMed:15475877 PubMed:16735994 PubMed:18470941 PubMed:16688110 PubMed:16862072 UniProtKB #ORIGINAL data type: Feature/sequence variant AAP 11/28/2012 148 3300006294 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Comment/Involvement in disease V198I; In GLC3A; dbSNP:rs59472972. MIM:231300 primary congenital glaucoma DOID:0050593 VAR_054240 rs59472972 Y Y ECO:0000006 PubMed:11527932 UniProtKB #ORIGINAL data type: Feature/sequence variant AAP 11/28/2012 148 3300006296 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Comment/Involvement in disease Y81N; In POAG; adult-onset; hypomorphic allele; reduces the abundance of the enzyme; dbSNP:rs9282671. MIM:137760 primary open angle glaucoma DOID:1070 VAR_028736 rs9282671 Y Y ECO:0000006 PubMed:15342693 PubMed:16735994 PubMed:18470941 PubMed:16862072 UniProtKB #ORIGINAL data type: Feature/sequence variant AAP 11/28/2012 148 3300006299 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Comment/Involvement in disease 269-271; In GLC3A and POAG. MIM:231300 primary congenital glaucoma DOID:0050593 VAR_054246 Y Y ECO:0000311 UniProtKB #ORIGINAL data type: Feature/sequence variant AAP 11/28/2012 148 3300006303 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Comment/Involvement in disease 269-271; In GLC3A and POAG. MIM:137760 primary open angle glaucoma DOID:1070 VAR_054246 Y Y ECO:0000311 UniProtKB #ORIGINAL data type: Feature/sequence variant AAP 11/28/2012 148 3300006305 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Comment/Involvement in disease 355-358; In GLC3A. MIM:231300 primary congenital glaucoma DOID:0050593 VAR_054252 Y Y ECO:0000311 UniProtKB #ORIGINAL data type: Feature/sequence variant AAP 11/28/2012 148 3300006307 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Comment/Involvement in disease 343; In GLC3A; reduces enzymatic activity and also the abundance of the enzyme. MIM:231300 primary congenital glaucoma DOID:0050593 VAR_054250 Y Y ECO:0000006 PubMed:16735994 PubMed:18470941 UniProtKB #ORIGINAL data type: Feature/sequence variant AAP 11/28/2012 148 3300006309 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Comment/Involvement in disease A115P; In GLC3A. MIM:231300 primary congenital glaucoma DOID:0050593 VAR_054230 Y Y ECO:0000006 PubMed:15475877 UniProtKB #ORIGINAL data type: Feature/sequence variant AAP 11/28/2012 148 3300006311 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Comment/Involvement in disease A189P; Associated with ocular hypertension susceptibility. ocular hypertension DOID:9282 VAR_054237 Y Y ECO:0000006 PubMed:16862072 UniProtKB #ORIGINAL data type: Feature/sequence variant AAP 11/28/2012 148 3300006313 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Comment/Involvement in disease A330F; In GLC3A; requires 2 nucleotide substitutions; uncertain pathogenicity. MIM:231300 primary congenital glaucoma DOID:0050593 VAR_054248 Y Y ECO:0000006 PubMed:11527932 UniProtKB #ORIGINAL data type: Feature/sequence variant AAP 11/28/2012 148 3300006315 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Comment/Involvement in disease A330S; Associated with ocular hypertension susceptibility. ocular hypertension DOID:9282 VAR_054249 Y Y ECO:0000006 PubMed:16862072 UniProtKB #ORIGINAL data type: Feature/sequence variant AAP 11/28/2012 148 3300006317 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Comment/Involvement in disease A388T; In GLC3A. MIM:231300 primary congenital glaucoma DOID:0050593 VAR_054254 Y Y ECO:0000006 PubMed:16490498 UniProtKB #ORIGINAL data type: Feature/sequence variant AAP 11/28/2012 148 3300006319 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Comment/Involvement in disease D192V; In GLC3A. MIM:231300 primary congenital glaucoma DOID:0050593 VAR_054238 Y Y ECO:0000006 PubMed:11527932 UniProtKB #ORIGINAL data type: Feature/sequence variant AAP 11/28/2012 148 3300006321 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Comment/Involvement in disease D530G; In POAG. MIM:137760 primary open angle glaucoma DOID:1070 VAR_054268 Y Y ECO:0000006 PubMed:16688110 UniProtKB #ORIGINAL data type: Feature/sequence variant AAP 11/28/2012 148 3300006323 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Comment/Involvement in disease E499G; In GLC3A. MIM:231300 primary congenital glaucoma DOID:0050593 VAR_054264 Y Y ECO:0000006 PubMed:11527932 UniProtKB #ORIGINAL data type: Feature/sequence variant AAP 11/28/2012 148 3300006325 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Comment/Involvement in disease F445C; In GLC3A. MIM:231300 primary congenital glaucoma DOID:0050593 VAR_054262 Y Y ECO:0000006 PubMed:14640115 UniProtKB #ORIGINAL data type: Feature/sequence variant AAP 11/28/2012 148 3300006327 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Comment/Involvement in disease G232R; In GLC3A and POAG; adult-onset. MIM:231300 primary congenital glaucoma DOID:0050593 VAR_054244 Y Y ECO:0000006 PubMed:14635112 PubMed:15342693 UniProtKB #ORIGINAL data type: Feature/sequence variant AAP 11/28/2012 148 3300006330 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Comment/Involvement in disease G232R; In GLC3A and POAG; adult-onset. MIM:137760 primary open angle glaucoma DOID:1070 VAR_054244 Y Y ECO:0000006 PubMed:14635112 PubMed:15342693 UniProtKB #ORIGINAL data type: Feature/sequence variant AAP 11/28/2012 148 3300006332 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Comment/Involvement in disease G466D; In GLC3A. MIM:231300 primary congenital glaucoma DOID:0050593 VAR_054263 Y Y ECO:0000006 PubMed:15475877 UniProtKB #ORIGINAL data type: Feature/sequence variant AAP 11/28/2012 148 3300006334 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Comment/Involvement in disease I399S; In GLC3A. MIM:231300 primary congenital glaucoma DOID:0050593 VAR_054257 Y Y ECO:0000006 PubMed:14635112 UniProtKB #ORIGINAL data type: Feature/sequence variant AAP 11/28/2012 148 3300006336 Katie/Rose Q16678 1545 CYP1B1 Homo sapiens 9606 Comment/Involvement in disease L345F; In POAG. MIM:137760 primary open angle glaucoma DOID:1070 VAR_054251 Y Y ECO:0000006 PubMed:11774072 UniProtKB #ORIGINAL data type: Feature/sequence variant AAP 11/28/2012 148 3300006338 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Comment/Involvement in disease L77P; In GLC3A. MIM:231300 primary congenital glaucoma DOID:0050593 VAR_054229 Y Y ECO:0000006 PubMed:10655546 PubMed:15475877 UniProtKB #ORIGINAL data type: Feature/sequence variant AAP 11/28/2012 148 3300006340 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Comment/Involvement in disease M132R; In GLC3A. MIM:231300 primary congenital glaucoma DOID:0050593 VAR_054231 Y Y ECO:0000006 PubMed:15475877 UniProtKB #ORIGINAL data type: Feature/sequence variant AAP 11/28/2012 148 3300006342 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Comment/Involvement in disease N203S; In GLC3A; reduces enzymatic activity. MIM:231300 primary congenital glaucoma DOID:0050593 VAR_054241 Y Y ECO:0000006 PubMed:18470941 UniProtKB #ORIGINAL data type: Feature/sequence variant AAP 11/28/2012 148 3300006344 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Comment/Involvement in disease N423Y; In GLC3A and POAG; juvenile-onset. MIM:231300 primary congenital glaucoma DOID:0050593 VAR_054260 Y Y ECO:0000006 PubMed:14635112 PubMed:15342693 UniProtKB #ORIGINAL data type: Feature/sequence variant AAP 11/28/2012 148 3300006346 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Comment/Involvement in disease N423Y; In GLC3A and POAG; juvenile-onset. MIM:137760 primary open angle glaucoma DOID:1070 VAR_054260 Y Y ECO:0000006 PubMed:14635112 PubMed:15342693 UniProtKB #ORIGINAL data type: Feature/sequence variant AAP 11/28/2012 148 3300006348 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Comment/Involvement in disease P193L; In GLC3A. MIM:231300 primary congenital glaucoma DOID:0050593 VAR_054239 Y Y ECO:0000006 PubMed:11980847 PubMed:15475877 UniProtKB #ORIGINAL data type: Feature/sequence variant AAP 11/28/2012 148 3300006350 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Comment/Involvement in disease Q144P; In GLC3A. MIM:231300 primary congenital glaucoma DOID:0050593 VAR_054233 Y Y ECO:0000006 PubMed:15475877 UniProtKB #ORIGINAL data type: Feature/sequence variant AAP 11/28/2012 148 3300006354 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Comment/Involvement in disease Q144R; In GLC3A. MIM:231300 primary congenital glaucoma DOID:0050593 VAR_054234 Y Y ECO:0000006 PubMed:14640115 UniProtKB #ORIGINAL data type: Feature/sequence variant AAP 11/28/2012 148 3300006356 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Comment/Involvement in disease R145W; In POAG. MIM:137760 primary open angle glaucoma DOID:1070 VAR_054235 Y Y ECO:0000006 PubMed:16862072 UniProtKB #ORIGINAL data type: Feature/sequence variant AAP 11/28/2012 148 3300006358 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Comment/Involvement in disease R390C; In GLC3A. MIM:231300 primary congenital glaucoma DOID:0050593 VAR_054255 Y Y ECO:0000006 PubMed:15475877 PubMed:15255109 UniProtKB #ORIGINAL data type: Feature/sequence variant AAP 11/28/2012 148 3300006360 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Comment/Involvement in disease R390S; In GLC3A. MIM:231300 primary congenital glaucoma DOID:0050593 VAR_054256 Y Y ECO:0000006 PubMed:10655546 PubMed:14635112 UniProtKB #ORIGINAL data type: Feature/sequence variant AAP 11/28/2012 148 3300006362 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Comment/Involvement in disease R444Q; In GLC3A. MIM:231300 primary congenital glaucoma DOID:0050593 VAR_054261 Y Y ECO:0000006 PubMed:11527932 UniProtKB #ORIGINAL data type: Feature/sequence variant AAP 11/28/2012 148 3300006364 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Comment/Involvement in disease R523T; In POAG; juvenile-onset. MIM:137760 primary open angle glaucoma DOID:1070 VAR_054267 Y Y ECO:0000006 PubMed:16688110 UniProtKB #ORIGINAL data type: Feature/sequence variant AAP 11/28/2012 148 3300006366 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Comment/Involvement in disease S215I; In GLC3A. MIM:231300 primary congenital glaucoma DOID:0050593 VAR_054242 Y Y ECO:0000006 PubMed:12525557 UniProtKB #ORIGINAL data type: Feature/sequence variant AAP 11/28/2012 148 3300006368 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Comment/Involvement in disease S239R; In GLC3A. MIM:231300 primary congenital glaucoma DOID:0050593 VAR_054245 Y Y ECO:0000006 PubMed:15475877 UniProtKB #ORIGINAL data type: Feature/sequence variant AAP 11/28/2012 148 3300006370 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Comment/Involvement in disease S28W; In POAG. MIM:137760 primary open angle glaucoma DOID:1070 VAR_054227 Y Y ECO:0000006 PubMed:16862072 UniProtKB #ORIGINAL data type: Feature/sequence variant AAP 11/28/2012 148 3300006372 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Comment/Involvement in disease S515L; In POAG; uncertain pathogenicity. MIM:137760 primary open angle glaucoma DOID:1070 VAR_054265 Y Y ECO:0000006 PubMed:16688110 UniProtKB #ORIGINAL data type: Feature/sequence variant AAP 11/28/2012 148 3300006374 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Comment/Involvement in disease V320L; In GLC3A. MIM:231300 primary congenital glaucoma DOID:0050593 VAR_054247 Y Y ECO:0000006 PubMed:11527932 UniProtKB #ORIGINAL data type: Feature/sequence variant AAP 11/28/2012 148 3300006376 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Comment/Involvement in disease V364M; In GLC3A. MIM:231300 primary congenital glaucoma DOID:0050593 VAR_054253 Y Y ECO:0000006 PubMed:11184479 PubMed:11527932 PubMed:12525557 UniProtKB #ORIGINAL data type: Feature/sequence variant AAP 11/28/2012 148 3300006378 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Comment/Involvement in disease V409F; In POAG. MIM:137760 primary open angle glaucoma DOID:1070 VAR_054258 Y Y ECO:0000006 PubMed:16862072 UniProtKB #ORIGINAL data type: Feature/sequence variant AAP 11/28/2012 148 3300006380 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Comment/Involvement in disease W57C; In POAG; juvenile onset; allele CYP1B1*11. MIM:137760 primary open angle glaucoma DOID:1070 VAR_008350 Y Y ECO:0000006 PubMed:9497261 PubMed:16688110 UniProtKB #ORIGINAL data type: Feature/sequence variant AAP 11/28/2012 148 3300006384 Mike P11712 1559 CYP2C9 Homo sapiens 9606 Comment/miscellaneous I359L; In allele CYP2C9*3; responsible for the tolbutamide poor metabolizer phenotype; dbSNP:rs1057910. tolbutamide CHEBI:27999 VAR_008345 rs1057910 Y Y ECO:0000006 submission: PubMed:8946475 PubMed:9110362 PubMed:15469410 UniProtKB #ORIGINAL data type: Feature/sequence variant AAP, DGA 1/9/2013 152 3300006438 Mike P10635 1565 CYP2D6 Homo sapiens 9606 Comment/miscellaneous G169R; In allele CYP2D6*14; poor debrisquone metabolism. debrisoquin CHEBI:34665 VAR_008338 Y Y ECO:0000006 PubMed:10064570 UniProtKB should be ""debrisoquine""; contact UniProt to fix typo.#ORIGINAL data type: Feature/sequence variant AAP, DGA 1/9/2013 146 3300006479 Faith Q02928 1579 CYP4A11 Homo sapiens 9606 Comment/Involvement in disease F434S; Associated with hypertension; significantly reduced arachidonic acid and lauric acid metabolizing activity; dbSNP:rs1126742. hypertension DOID:10763 VAR_019160 rs1126742 Y Y ECO:0000006 PubMed:15611369 PubMed:8363569 PubMed:15895287 PubMed:8274222 submission: UniProtKB May want to change to Decrease#ORIGINAL data type: Feature/sequence variant AAP, DGA 11/28/2012 121 3300006526 Faith/Rose Q6NT55 126410 CYP4F22 Homo sapiens 9606 Comment/Involvement in disease F59L; In LI3. MIM:604777 ichthyosis DOID:1697 VAR_037441 Y Y ECO:0000006 PubMed:16436457 UniProtKB #ORIGINAL data type: Feature/sequence variant AAP 11/28/2012 84 3300006558 Faith/Rose Q6NT55 126410 CYP4F22 Homo sapiens 9606 Comment/Involvement in disease H435Y; In LI3. MIM:604777 ichthyosis DOID:1697 VAR_037444 Y Y ECO:0000006 PubMed:16436457 UniProtKB #ORIGINAL data type: Feature/sequence variant AAP 11/28/2012 84 3300006560 Faith/Rose Q6NT55 126410 CYP4F22 Homo sapiens 9606 Comment/Involvement in disease H436D; In LI3. MIM:604777 ichthyosis DOID:1697 VAR_037445 Y Y ECO:0000006 PubMed:16436457 UniProtKB #ORIGINAL data type: Feature/sequence variant AAP 11/28/2012 84 3300006562 Faith/Rose Q6NT55 126410 CYP4F22 Homo sapiens 9606 Comment/Involvement in disease R243H; In LI3. MIM:604777 ichthyosis DOID:1697 VAR_037442 Y Y ECO:0000006 PubMed:16436457 UniProtKB #ORIGINAL data type: Feature/sequence variant AAP 11/28/2012 84 3300006564 Faith/Rose Q6NT55 126410 CYP4F22 Homo sapiens 9606 Comment/Involvement in disease R372W; In LI3. MIM:604777 ichthyosis DOID:1697 VAR_037443 Y Y ECO:0000006 PubMed:16436457 UniProtKB #ORIGINAL data type: Feature/sequence variant AAP 11/28/2012 84 3300006566 Katie/Rose P16444 1800 DPEP1 Homo sapiens 9606 Comment/Involvement in disease R246H; In a colorectal cancer sample; somatic mutation. colorectal cancer DOID:9256 VAR_036496 Y Y ECO:0000006 PubMed:16959974 UniProtKB #ORIGINAL data type: Feature/sequence variant AAP 2/6/2013 143 3300006580 Rose P19440 2678 GGT1 Homo sapiens 9606 Comment/tissue specificity P19440-3;Isoform 3 lung BTO:0000763 VSP_008132 Produced by alternative promoter usage. Y Y ECO:0000311 UniProtKB Isoform 3 lung specific (see tissue comment).#ORIGINAL data type: Comment/alternative products/isoform AAP, DGA 11/28/2012 148 3300006611 Rose P19440 2678 GGT1 Homo sapiens 9606 Comment/tissue specificity P19440-3;Isoform 3 lung UBERON:0002048 VSP_008132 Produced by alternative promoter usage. Y Y ECO:0000311 UniProtKB Isoform 3 lung specific (see tissue comment).#ORIGINAL data type: Comment/alternative products/isoform AAP, DGA 11/28/2012 148 3300006612 Katie P36969 2879 GPX4 Homo sapiens 9606 Comment/Involvement in disease A120T; In a patient affected by cryptorchidism. cryptorchidism DOID:11383 VAR_017064 Y Y ECO:0000006 PubMed:12606444 UniProtKB Reviewed by Faith#ORIGINAL data type: Feature/sequence variant AAP, DGA 11/28/2012 137 3300006675 Katie/Rose P15428 3248 HPGD Homo sapiens 9606 Comment/Involvement in disease A140P; In COA; inactive. MIM:259100 primary hypertrophic osteoarthropathy DOID:14283 VAR_046209 Y Y ECO:0000006 PubMed:18500342 UniProtKB Normal -> abolished#ORIGINAL data type: Feature/sequence variant AAP 2/6/2013 135 3300006694 Katie/Rose P15428 3248 HPGD Homo sapiens 9606 Comment/Involvement in disease S193P; In ICNC. MIM:119900 skin disease DOID:37 VAR_060792 Y Y ECO:0000006 PubMed:18805827 UniProtKB #ORIGINAL data type: Feature/sequence variant AAP 2/6/2013 135 3300006696 Katie/Rose P15428 3248 HPGD Homo sapiens 9606 Comment/Involvement in disease S193P; In ICNC. MIM:119900 Hereditary clubbing SNOMEDCT:239055005 VAR_060792 Y Y ECO:0000006 PubMed:18805827 UniProtKB #ORIGINAL data type: Feature/sequence variant AAP 2/6/2013 135 3300006698 Mike P04180 3931 LCAT Homo sapiens 9606 Comment/Involvement in disease A117T; In LCATD; dbSNP:rs28940886. MIM:245900 Norum disease DOID:1391 VAR_004255 rs28940886 Y Y ECO:0000006 PubMed:8432868 PubMed:8318557 UniProtKB #ORIGINAL data type: Feature/sequence variant AAP, DGA 11/28/2012 141 3300006713 Mike P04180 3931 LCAT Homo sapiens 9606 Comment/Involvement in disease R159W; In LCATD; dbSNP:rs28940887. MIM:245900 Norum disease DOID:1391 VAR_004257 rs28940887 Y Y ECO:0000006 PubMed:8432868 UniProtKB #ORIGINAL data type: Feature/sequence variant AAP, DGA 11/28/2012 141 3300006715 Mike P04180 3931 LCAT Homo sapiens 9606 Comment/Involvement in disease T345M; In LCATD; dbSNP:rs28940888. MIM:245900 Norum disease DOID:1391 VAR_004266 rs28940888 Y Y ECO:0000006 PubMed:8432868 PubMed:12957688 UniProtKB #ORIGINAL data type: Feature/sequence variant AAP, DGA 11/28/2012 141 3300006717 Mike P04180 3931 LCAT Homo sapiens 9606 Comment/Involvement in disease L233P; In LCATD; dbSNP:rs28942087. MIM:245900 Norum disease DOID:1391 VAR_004262 rs28942087 Y Y ECO:0000006 PubMed:8432868 UniProtKB #ORIGINAL data type: Feature/sequence variant AAP, DGA 11/28/2012 141 3300006719 Mike P04180 3931 LCAT Homo sapiens 9606 Comment/Involvement in disease F406V; In LCATD. MIM:245900 Norum disease DOID:1391 VAR_039038 Y Y ECO:0000006 PubMed:12957688 UniProtKB #ORIGINAL data type: Feature/sequence variant AAP, DGA 11/28/2012 141 3300006724 Mike P04180 3931 LCAT Homo sapiens 9606 Comment/Involvement in disease G54S; In LCATD. MIM:245900 Norum disease DOID:1391 VAR_004253 Y Y ECO:0000006 PubMed:8807342 UniProtKB #ORIGINAL data type: Feature/sequence variant AAP, DGA 11/28/2012 141 3300006726 Mike P04180 3931 LCAT Homo sapiens 9606 Comment/Involvement in disease G57R; In LCATD. MIM:245900 Norum disease DOID:1391 VAR_004254 Y Y ECO:0000006 PubMed:7711728 UniProtKB #ORIGINAL data type: Feature/sequence variant AAP, DGA 11/28/2012 141 3300006728 Mike P04180 3931 LCAT Homo sapiens 9606 Comment/Involvement in disease K242N; In LCATD. MIM:245900 Norum disease DOID:1391 VAR_039031 Y Y ECO:0000006 PubMed:15994445 UniProtKB #ORIGINAL data type: Feature/sequence variant AAP, DGA 11/28/2012 141 3300006731 Mike P04180 3931 LCAT Homo sapiens 9606 Comment/Involvement in disease L17LLLPPAAPFWL; In LCATD. MIM:245900 Norum disease DOID:1391 VAR_004251 Y Y ECO:0000311 UniProtKB #ORIGINAL data type: Feature/sequence variant AAP, DGA 11/28/2012 141 3300006733 Mike P04180 3931 LCAT Homo sapiens 9606 Comment/Involvement in disease L338F; In FED; results in reduced protein secretion and activity. MIM:136120 corneal dystrophy DOID:2566 VAR_066867 Y Y ECO:0000006 PubMed:21901787 UniProtKB #ORIGINAL data type: Feature/sequence variant AAP, DGA 11/28/2012 141 3300006735 Mike P04180 3931 LCAT Homo sapiens 9606 Comment/Involvement in disease L396R; In a patient with LCATD. MIM:245900 Norum disease DOID:1391 VAR_039037 Y Y ECO:0000006 PubMed:15994445 PubMed:16874701 UniProtKB #ORIGINAL data type: Feature/sequence variant AAP, DGA 11/28/2012 141 3300006737 Mike P04180 3931 LCAT Homo sapiens 9606 Comment/Involvement in disease M276K; In FED. MIM:136120 corneal dystrophy DOID:2566 VAR_004264 Y Y ECO:0000006 PubMed:1516702 UniProtKB #ORIGINAL data type: Feature/sequence variant AAP, DGA 11/28/2012 141 3300006739 Mike P04180 3931 LCAT Homo sapiens 9606 Comment/Involvement in disease M317I; In LCATD; partially defective enzyme. MIM:245900 Norum disease DOID:1391 VAR_004265 Y Y ECO:0000006 PubMed:1681161 PubMed:1859405 UniProtKB #ORIGINAL data type: Feature/sequence variant AAP, DGA 11/28/2012 141 3300006741 Mike P04180 3931 LCAT Homo sapiens 9606 Comment/Involvement in disease N252K; In LCATD. MIM:245900 Norum disease DOID:1391 VAR_004263 Y Y ECO:0000006 PubMed:1681161 UniProtKB #ORIGINAL data type: Feature/sequence variant AAP, DGA 11/28/2012 141 3300006743 Mike P04180 3931 LCAT Homo sapiens 9606 Comment/Involvement in disease N29I; In LCATD. MIM:245900 Norum disease DOID:1391 VAR_039020 Y Y ECO:0000006 PubMed:9007616 UniProtKB #ORIGINAL data type: Feature/sequence variant AAP, DGA 11/28/2012 141 3300006745 Mike P04180 3931 LCAT Homo sapiens 9606 Comment/Involvement in disease P331S; In LCATD. MIM:245900 Norum disease DOID:1391 VAR_039035 Y Y ECO:0000006 PubMed:9741700 UniProtKB #ORIGINAL data type: Feature/sequence variant AAP, DGA 11/28/2012 141 3300006747 Mike P04180 3931 LCAT Homo sapiens 9606 Comment/Involvement in disease P34L; In FED. MIM:136120 corneal dystrophy DOID:2566 VAR_004252 Y Y ECO:0000006 PubMed:1571050 UniProtKB #ORIGINAL data type: Feature/sequence variant AAP, DGA 11/28/2012 141 3300006749 Mike P04180 3931 LCAT Homo sapiens 9606 Comment/Involvement in disease P34Q; In FED. MIM:136120 corneal dystrophy DOID:2566 VAR_039021 Y Y ECO:0000006 PubMed:8620346 UniProtKB #ORIGINAL data type: Feature/sequence variant AAP, DGA 11/28/2012 141 3300006751 Mike P04180 3931 LCAT Homo sapiens 9606 Comment/Involvement in disease R123C; In FED. MIM:136120 corneal dystrophy DOID:2566 VAR_039026 Y Y ECO:0000006 PubMed:9261271 UniProtKB #ORIGINAL data type: Feature/sequence variant AAP, DGA 11/28/2012 141 3300006753 Mike P04180 3931 LCAT Homo sapiens 9606 Comment/Involvement in disease R159Q; In FED. MIM:136120 corneal dystrophy DOID:2566 VAR_039027 Y Y ECO:0000006 PubMed:8620346 UniProtKB #ORIGINAL data type: Feature/sequence variant AAP, DGA 11/28/2012 141 3300006755 Mike P04180 3931 LCAT Homo sapiens 9606 Comment/Involvement in disease R164C; In LCATD. MIM:245900 Norum disease DOID:1391 VAR_039028 Y Y ECO:0000006 PubMed:15994445 UniProtKB #ORIGINAL data type: Feature/sequence variant AAP, DGA 11/28/2012 141 3300006757 Mike P04180 3931 LCAT Homo sapiens 9606 Comment/Involvement in disease R164H; In LCATD; also in a compound heterozygote carrying R-95 with intermediate phenotype between LCATD and FED; loss of activity. MIM:245900 Norum disease DOID:1391 VAR_004258 Y Y ECO:0000006 PubMed:7607641 PubMed:16216249 UniProtKB #ORIGINAL data type: Feature/sequence variant AAP, DGA 11/28/2012 141 3300006759 Mike P04180 3931 LCAT Homo sapiens 9606 Comment/Involvement in disease R171W; In LCATD. MIM:245900 Norum disease DOID:1391 VAR_004259 Y Y ECO:0000006 PubMed:2370048 PubMed:15994445 UniProtKB #ORIGINAL data type: Feature/sequence variant AAP, DGA 11/28/2012 141 3300006761 Mike P04180 3931 LCAT Homo sapiens 9606 Comment/Involvement in disease R268H; In LCATD. MIM:245900 Norum disease DOID:1391 VAR_039032 Y Y ECO:0000006 PubMed:15994445 UniProtKB #ORIGINAL data type: Feature/sequence variant AAP, DGA 11/28/2012 141 3300006765 Mike P04180 3931 LCAT Homo sapiens 9606 Comment/Involvement in disease R347C; In FED; results in reduced activity. MIM:136120 corneal dystrophy DOID:2566 VAR_066868 Y Y ECO:0000006 PubMed:21901787 UniProtKB #ORIGINAL data type: Feature/sequence variant AAP, DGA 11/28/2012 141 3300006768 Mike P04180 3931 LCAT Homo sapiens 9606 Comment/Involvement in disease S205N; In LCATD. MIM:245900 Norum disease DOID:1391 VAR_039030 Y Y ECO:0000006 PubMed:15994445 UniProtKB #ORIGINAL data type: Feature/sequence variant AAP, DGA 11/28/2012 141 3300006771 Mike P04180 3931 LCAT Homo sapiens 9606 Comment/Involvement in disease T147I; In FED. MIM:136120 corneal dystrophy DOID:2566 VAR_004256 Y Y ECO:0000006 PubMed:1737840 UniProtKB #ORIGINAL data type: Feature/sequence variant AAP, DGA 11/28/2012 141 3300006773 Mike P04180 3931 LCAT Homo sapiens 9606 Comment/Involvement in disease T298A; In FED and LCATD. MIM:136120 corneal dystrophy DOID:2566 VAR_039033 Y Y ECO:0000006 PubMed:11423760 PubMed:15994445 UniProtKB #ORIGINAL data type: Feature/sequence variant AAP, DGA 11/28/2012 141 3300006775 Mike P04180 3931 LCAT Homo sapiens 9606 Comment/Involvement in disease T298A; In FED and LCATD. MIM:245900 Norum disease DOID:1391 VAR_039033 Y Y ECO:0000006 PubMed:11423760 PubMed:15994445 UniProtKB #ORIGINAL data type: Feature/sequence variant AAP, DGA 11/28/2012 141 3300006777 Mike P04180 3931 LCAT Homo sapiens 9606 Comment/Involvement in disease T298I; In LCATD. MIM:245900 Norum disease DOID:1391 VAR_039034 Y Y ECO:0000006 PubMed:15994445 UniProtKB #ORIGINAL data type: Feature/sequence variant AAP, DGA 11/28/2012 141 3300006779 Mike P04180 3931 LCAT Homo sapiens 9606 Comment/Involvement in disease T371M; In FED. MIM:136120 corneal dystrophy DOID:2566 VAR_004267 Y Y ECO:0000006 PubMed:1737840 UniProtKB #ORIGINAL data type: Feature/sequence variant AAP, DGA 11/28/2012 141 3300006781 Mike P04180 3931 LCAT Homo sapiens 9606 Comment/Involvement in disease T37M; In LCATD. MIM:245900 Norum disease DOID:1391 VAR_039022 Y Y ECO:0000006 PubMed:9741700 UniProtKB #ORIGINAL data type: Feature/sequence variant AAP, DGA 11/28/2012 141 3300006783 Mike P04180 3931 LCAT Homo sapiens 9606 Comment/Involvement in disease V333M; In LCATD. MIM:245900 Norum disease DOID:1391 VAR_039036 Y Y ECO:0000006 PubMed:15994445 PubMed:16051254 UniProtKB #ORIGINAL data type: Feature/sequence variant AAP, DGA 11/28/2012 141 3300006786 Mike P04180 3931 LCAT Homo sapiens 9606 Comment/Involvement in disease V70E; In FED. MIM:136120 corneal dystrophy DOID:2566 VAR_039023 Y Y ECO:0000006 PubMed:15994445 UniProtKB #ORIGINAL data type: Feature/sequence variant AAP, DGA 11/28/2012 141 3300006788 Mike P04180 3931 LCAT Homo sapiens 9606 Comment/Involvement in disease W99S; In FED; loss of activity. MIM:136120 corneal dystrophy DOID:2566 VAR_066862 Y Y ECO:0000006 PubMed:21901787 UniProtKB #ORIGINAL data type: Feature/sequence variant AAP, DGA 11/28/2012 141 3300006790 Mike P04180 3931 LCAT Homo sapiens 9606 Comment/Involvement in disease Y180N; In LCATD. MIM:245900 Norum disease DOID:1391 VAR_004260 Y Y ECO:0000311 UniProtKB #ORIGINAL data type: Feature/sequence variant AAP, DGA 11/28/2012 141 3300006792 Rose P38571 3988 LIPA Homo sapiens 9606 Comment/Involvement in disease H129P; In CESD. MIM:278000 Wolman disease DOID:14497 VAR_004248 Y Y ECO:0000006 PubMed:9633819 UniProtKB #ORIGINAL data type: Feature/sequence variant AAP 11/28/2012 128 3300006798 Rose P38571 3988 LIPA Homo sapiens 9606 Comment/Involvement in disease H129P; In CESD. MIM:278000 Wolman's disease SNOMEDCT:82500001 VAR_004248 Y Y ECO:0000006 PubMed:9633819 UniProtKB #ORIGINAL data type: Feature/sequence variant AAP 11/28/2012 128 3300006800 Rose P38571 3988 LIPA Homo sapiens 9606 Comment/Involvement in disease H129R; In CESD. MIM:278000 Wolman disease DOID:14497 VAR_004249 Y Y ECO:0000006 PubMed:9633819 UniProtKB #ORIGINAL data type: Feature/sequence variant AAP 11/28/2012 128 3300006802 Rose P38571 3988 LIPA Homo sapiens 9606 Comment/Involvement in disease H129R; In CESD. MIM:278000 Wolman's disease SNOMEDCT:82500001 VAR_004249 Y Y ECO:0000006 PubMed:9633819 UniProtKB #ORIGINAL data type: Feature/sequence variant AAP 11/28/2012 128 3300006804 Rose P38571 3988 LIPA Homo sapiens 9606 Comment/Involvement in disease L200P; In CESD and WOD. MIM:278000 Wolman disease DOID:14497 VAR_004250 Y Y ECO:0000006 PubMed:8146180 UniProtKB #ORIGINAL data type: Feature/sequence variant AAP 11/28/2012 128 3300006806 Rose P38571 3988 LIPA Homo sapiens 9606 Comment/Involvement in disease L200P; In CESD and WOD. MIM:278000 Wolman's disease SNOMEDCT:82500001 VAR_004250 Y Y ECO:0000006 PubMed:8146180 UniProtKB #ORIGINAL data type: Feature/sequence variant AAP 11/28/2012 128 3300006808 Faith Q05469 3991 LIPE Homo sapiens 9606 Comment/tissue specificity Q05469-1;Isoform 1;Testicular testis BTO:0001363 Y Y ECO:0000311 UniProtKB full length#ORIGINAL data type: Comment/alternative products/isoform AAP, DGA 11/28/2012 118 3300006811 Faith Q05469 3991 LIPE Homo sapiens 9606 Comment/tissue specificity Q05469-1;Isoform 1;Testicular testis UBERON:0000473 Y Y ECO:0000311 UniProtKB full length#ORIGINAL data type: Comment/alternative products/isoform AAP, DGA 11/28/2012 118 3300006812 Faith/Rose Q05469 3991 LIPE Homo sapiens 9606 Comment/Involvement in disease P146Q; In a breast cancer sample; somatic mutation. breast cancer DOID:1612 VAR_036539 Y Y ECO:0000006 PubMed:16959974 UniProtKB breast cancer sample#ORIGINAL data type: Feature/sequence variant AAP, DGA 11/28/2012 118 3300006823 Mike P09960 4048 LTA4H Homo sapiens 9606 Comment/tissue specificity P09960-1;L-LTA4 blood platelet BTO:0000132 platelet CL:0000233 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 161 3300006838 Mike P09960 4048 LTA4H Homo sapiens 9606 Comment/tissue specificity P09960-1;L-LTA4 fibroblast BTO:0000452 fibroblast CL:0000057 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 161 3300006839 Mike P09960 4048 LTA4H Homo sapiens 9606 Comment/tissue specificity P09960-1;L-LTA4 lymphocyte BTO:0000775 lymphocyte CL:0000542 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 161 3300006840 Mike P09960 4048 LTA4H Homo sapiens 9606 Comment/tissue specificity P09960-1;L-LTA4 monocyte BTO:0000876 monocyte CL:0000576 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 161 3300006841 Mike P09960 4048 LTA4H Homo sapiens 9606 Comment/tissue specificity P09960-1;L-LTA4 neutrophil BTO:0000130 neutrophil CL:0000775 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 161 3300006842 Mike P09960 4048 LTA4H Homo sapiens 9606 Comment/tissue specificity P09960-1;L-LTA4 reticulocyte BTO:0001173 reticulocyte CL:0000558 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 161 3300006843 Mike P09960 4048 LTA4H Homo sapiens 9606 Comment/tissue specificity P09960-2;S-LTA4 blood platelet BTO:0000132 platelet CL:0000233 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 161 3300006844 Mike P09960 4048 LTA4H Homo sapiens 9606 Comment/tissue specificity P09960-2;S-LTA4 fibroblast BTO:0000452 fibroblast CL:0000057 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 161 3300006845 Mike P09960 4048 LTA4H Homo sapiens 9606 Comment/tissue specificity P09960-2;S-LTA4 lymphocyte BTO:0000775 lymphocyte CL:0000542 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 161 3300006846 Mike P09960 4048 LTA4H Homo sapiens 9606 Comment/tissue specificity P09960-2;S-LTA4 monocyte BTO:0000876 monocyte CL:0000576 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 161 3300006847 Mike P09960 4048 LTA4H Homo sapiens 9606 Comment/tissue specificity P09960-2;S-LTA4 neutrophil BTO:0000130 neutrophil CL:0000775 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 161 3300006848 Mike P09960 4048 LTA4H Homo sapiens 9606 Comment/tissue specificity P09960-2;S-LTA4 reticulocyte BTO:0001173 reticulocyte CL:0000558 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 161 3300006849 Rose P47712 5321 PLA2G4A Homo sapiens 9606 Comment/Involvement in disease H442Q; In a breast cancer sample; somatic mutation. breast cancer DOID:1612 VAR_035826 Y Y ECO:0000006 PubMed:16959974 UniProtKB #ORIGINAL data type: Feature/sequence variant AAP 11/28/2012 140 3300006960 Rose P39877 5322 PLA2G5 Homo sapiens 9606 Comment/Involvement in disease G45C; In FRFB. MIM:228980 retinal disease DOID:5679 VAR_067343 Y Y ECO:0000006 PubMed:22137173 UniProtKB #ORIGINAL data type: Feature/sequence variant AAP 11/28/2012 123 3300007008 Rose P39877 5322 PLA2G5 Homo sapiens 9606 Comment/Involvement in disease G45C; In FRFB. MIM:228980 Retinal flecking SNOMEDCT:247138002 VAR_067343 Y Y ECO:0000006 PubMed:22137173 UniProtKB #ORIGINAL data type: Feature/sequence variant AAP 11/28/2012 123 3300007010 Rose P39877 5322 PLA2G5 Homo sapiens 9606 Comment/Involvement in disease G49S; In FRFB. MIM:228980 retinal disease DOID:5679 VAR_067344 Y Y ECO:0000006 PubMed:22137173 UniProtKB #ORIGINAL data type: Feature/sequence variant AAP 11/28/2012 123 3300007012 Rose P39877 5322 PLA2G5 Homo sapiens 9606 Comment/Involvement in disease G49S; In FRFB. MIM:228980 Retinal flecking SNOMEDCT:247138002 VAR_067344 Y Y ECO:0000006 PubMed:22137173 UniProtKB #ORIGINAL data type: Feature/sequence variant AAP 11/28/2012 123 3300007014 Mike O60733 8398 PLA2G6 Homo sapiens 9606 Comment/miscellaneous 691; In NBIA2A. MIM:256600 VAR_029374 Y Y ECO:0000006 PubMed:16783378 PubMed:17033970 UniProtKB #ORIGINAL data type: Feature/sequence variant AAP, DGA 1/9/2013 128 3300007022 Mike O60733 8398 PLA2G6 Homo sapiens 9606 Comment/miscellaneous K545T; In NBIA2B. MIM:610217 VAR_029372 Y Y ECO:0000006 PubMed:16783378 UniProtKB #ORIGINAL data type: Feature/sequence variant AAP, DGA 1/9/2013 128 3300007024 Mike O60733 8398 PLA2G6 Homo sapiens 9606 Comment/miscellaneous R632W; In NBIA2B. MIM:610217 VAR_029373 Y Y ECO:0000006 PubMed:16783378 UniProtKB #ORIGINAL data type: Feature/sequence variant AAP, DGA 1/9/2013 128 3300007026 Mike O60733 8398 PLA2G6 Homo sapiens 9606 Comment/Involvement in disease R741Q; In PARK14. MIM:612953 Parkinson's disease DOID:14330 VAR_062530 Y Y ECO:0000006 PubMed:18570303 UniProtKB #ORIGINAL data type: Feature/sequence variant AAP, DGA 1/9/2013 128 3300007028 Mike O60733 8398 PLA2G6 Homo sapiens 9606 Comment/Involvement in disease R747W; In PARK14. MIM:612953 Parkinson's disease DOID:14330 VAR_062531 Y Y ECO:0000006 PubMed:18570303 UniProtKB #ORIGINAL data type: Feature/sequence variant AAP, DGA 1/9/2013 128 3300007030 Mike O60733 8398 PLA2G6 Homo sapiens 9606 Comment/miscellaneous V310E; In NBIA2A. MIM:256600 VAR_029371 Y Y ECO:0000006 PubMed:16783378 UniProtKB #ORIGINAL data type: Feature/sequence variant AAP, DGA 1/9/2013 128 3300007032 Faith P43088 5737 PTGFR Homo sapiens 9606 Comment/tissue specificity P43088-1;Isoform 1 heart BTO:0000562 Y Y PubMed:14984197 PENTACON #ORIGINAL data type: Comment/alternative products/isoform AAP 4/21/2014 3 3300007100 Faith P43088 5737 PTGFR Homo sapiens 9606 Comment/tissue specificity P43088-1;Isoform 1 heart UBERON:0000948 Y Y PubMed:14984197 PENTACON #ORIGINAL data type: Comment/alternative products/isoform AAP 4/21/2014 3 3300007101 Faith P43088 5737 PTGFR Homo sapiens 9606 Comment/tissue specificity P43088-1;Isoform 1 placenta BTO:0001078 Y Y PubMed:14984197 PENTACON #ORIGINAL data type: Comment/alternative products/isoform AAP 4/21/2014 3 3300007102 Faith P43088 5737 PTGFR Homo sapiens 9606 Comment/tissue specificity P43088-1;Isoform 1 placenta UBERON:0001987 Y Y PubMed:14984197 PENTACON #ORIGINAL data type: Comment/alternative products/isoform AAP 4/21/2014 3 3300007103 Faith P43088 5737 PTGFR Homo sapiens 9606 Comment/tissue specificity P43088-2;Isoform 2;FP(S) heart BTO:0000562 Y Y PubMed:14984197 PENTACON #ORIGINAL data type: Comment/alternative products/isoform AAP 4/21/2014 3 3300007104 Faith P43088 5737 PTGFR Homo sapiens 9606 Comment/tissue specificity P43088-2;Isoform 2;FP(S) heart UBERON:0000948 Y Y PubMed:14984197 PENTACON #ORIGINAL data type: Comment/alternative products/isoform AAP 4/21/2014 3 3300007105 Faith P43088 5737 PTGFR Homo sapiens 9606 Comment/tissue specificity P43088-2;Isoform 2;FP(S) placenta BTO:0001078 Y Y PubMed:14984197 PENTACON #ORIGINAL data type: Comment/alternative products/isoform AAP 4/21/2014 3 3300007106 Faith P43088 5737 PTGFR Homo sapiens 9606 Comment/tissue specificity P43088-2;Isoform 2;FP(S) placenta UBERON:0001987 Y Y PubMed:14984197 PENTACON #ORIGINAL data type: Comment/alternative products/isoform AAP 4/21/2014 3 3300007107 Faith P43088 5737 PTGFR Homo sapiens 9606 Comment/tissue specificity P43088-2;Isoform 2;FP(S) skeletal muscle BTO:0001103 Y Y PubMed:14984197 PENTACON #ORIGINAL data type: Comment/alternative products/isoform AAP 4/21/2014 3 3300007108 Faith P43088 5737 PTGFR Homo sapiens 9606 Comment/tissue specificity P43088-2;Isoform 2;FP(S) skeletal muscle tissue UBERON:0001134 Y Y PubMed:14984197 PENTACON #ORIGINAL data type: Comment/alternative products/isoform AAP 4/21/2014 3 3300007109 Faith P43088 5737 PTGFR Homo sapiens 9606 Comment/tissue specificity P43088-2;Isoform 2;FP(S) HUVEC cell BTO:0001949 endothelial cell of umbilical vein CL:0002618 Y Y PubMed:14984197 PENTACON #ORIGINAL data type: Comment/alternative products/isoform AAP 4/21/2014 3 3300007110 Faith P21731 6915 TBXA2R Homo sapiens 9606 Comment/tissue specificity P21731-3;Isoform 1;Alpha placenta BTO:0001078 Y Y PubMed:8034687 PENTACON #ORIGINAL data type: Comment/alternative products/isoform AAP, DGA 4/21/2014 3 3300007152 Faith P21731 6915 TBXA2R Homo sapiens 9606 Comment/tissue specificity P21731-3;Isoform 1;Alpha placenta UBERON:0001987 Y Y PubMed:8034687 PENTACON #ORIGINAL data type: Comment/alternative products/isoform AAP, DGA 4/21/2014 3 3300007153 Faith P21731 6915 TBXA2R Homo sapiens 9606 Comment/tissue specificity P21731-3;Isoform 1;Alpha blood platelet BTO:0000132 platelet CL:0000233 Y Y PubMed:8613548 PENTACON #ORIGINAL data type: Comment/alternative products/isoform AAP, DGA 4/21/2014 3 3300007154 Faith P21731 6915 TBXA2R Homo sapiens 9606 Comment/tissue specificity P21731-3;Isoform 1;Alpha HEL 92.1.7 cell CLO:0003682 Y Y PubMed:9838218 PENTACON #ORIGINAL data type: Comment/alternative products/isoform AAP, DGA 4/21/2014 3 3300007155 Faith P21731 6915 TBXA2R Homo sapiens 9606 Comment/tissue specificity P21731-3;Isoform 1;Alpha aortic smooth muscle cell BTO:0004577 immortal smooth muscle cell line cell CLO:0000078 Y Y PubMed:9838218 PENTACON #ORIGINAL data type: Comment/alternative products/isoform AAP, DGA 4/21/2014 3 3300007156 Faith P21731 6915 TBXA2R Homo sapiens 9606 Comment/tissue specificity P21731-3;Isoform 1;Alpha aortic smooth muscle cell BTO:0004577 fetus BTO:0000449 immortal smooth muscle cell line cell CLO:0000078 Y Y PubMed:9838218 PENTACON #ORIGINAL data type: Comment/alternative products/isoform AAP, DGA 4/21/2014 3 3300007157 Faith P21731 6915 TBXA2R Homo sapiens 9606 Comment/tissue specificity P21731-3;Isoform 1;Alpha uterus BTO:0001424 Y Y PubMed:9838218 PENTACON #ORIGINAL data type: Comment/alternative products/isoform AAP, DGA 4/21/2014 3 3300007158 Faith P21731 6915 TBXA2R Homo sapiens 9606 Comment/tissue specificity P21731-3;Isoform 1;Alpha uterus UBERON:0000995 Y Y PubMed:9838218 PENTACON #ORIGINAL data type: Comment/alternative products/isoform AAP, DGA 4/21/2014 3 3300007159 Faith P21731 6915 TBXA2R Homo sapiens 9606 Comment/tissue specificity P21731-3;Isoform 1;Alpha HUVEC cell BTO:0001949 Y Y PubMed:9838218 PENTACON Does not agree with 8034687#ORIGINAL data type: Comment/alternative products/isoform AAP, DGA 4/21/2014 3 3300007160 Faith P21731 6915 TBXA2R Homo sapiens 9606 Comment/tissue specificity P21731-3;Isoform 1;Alpha brain BTO:0000142 Y Y PubMed:9838218 PENTACON #ORIGINAL data type: Comment/alternative products/isoform AAP, DGA 4/21/2014 3 3300007161 Faith P21731 6915 TBXA2R Homo sapiens 9606 Comment/tissue specificity P21731-3;Isoform 1;Alpha brain UBERON:0000955 Y Y PubMed:9838218 PENTACON #ORIGINAL data type: Comment/alternative products/isoform AAP, DGA 4/21/2014 3 3300007162 Faith P21731 6915 TBXA2R Homo sapiens 9606 Comment/tissue specificity P21731-3;Isoform 1;Alpha brain BTO:0000142 fetus BTO:0000449 Y Y PubMed:9838218 PENTACON #ORIGINAL data type: Comment/alternative products/isoform AAP, DGA 4/21/2014 3 3300007163 Faith P21731 6915 TBXA2R Homo sapiens 9606 Comment/tissue specificity P21731-3;Isoform 1;Alpha brain UBERON:0000955 fetus BTO:0000449 Y Y PubMed:9838218 PENTACON #ORIGINAL data type: Comment/alternative products/isoform AAP, DGA 4/21/2014 3 3300007164 Faith P21731 6915 TBXA2R Homo sapiens 9606 Comment/tissue specificity P21731-3;Isoform 1;Alpha thymus BTO:0001374 Y Y PubMed:9838218 PENTACON #ORIGINAL data type: Comment/alternative products/isoform AAP, DGA 4/21/2014 3 3300007165 Faith P21731 6915 TBXA2R Homo sapiens 9606 Comment/tissue specificity P21731-3;Isoform 1;Alpha thymus UBERON:0002370 Y Y PubMed:9838218 PENTACON #ORIGINAL data type: Comment/alternative products/isoform AAP, DGA 4/21/2014 3 3300007166 Faith P21731 6915 TBXA2R Homo sapiens 9606 Comment/tissue specificity P21731-3;Isoform 1;Alpha small intestine BTO:0000651 Y Y PubMed:9838218 PENTACON #ORIGINAL data type: Comment/alternative products/isoform AAP, DGA 4/21/2014 3 3300007167 Faith P21731 6915 TBXA2R Homo sapiens 9606 Comment/tissue specificity P21731-3;Isoform 1;Alpha small intestine UBERON:0002108 Y Y PubMed:9838218 PENTACON #ORIGINAL data type: Comment/alternative products/isoform AAP, DGA 4/21/2014 3 3300007168 Faith P21731 6915 TBXA2R Homo sapiens 9606 Comment/tissue specificity P21731-3;Isoform 1;Alpha liver BTO:0000759 Y Y PubMed:9838218 PENTACON #ORIGINAL data type: Comment/alternative products/isoform AAP, DGA 4/21/2014 3 3300007169 Faith P21731 6915 TBXA2R Homo sapiens 9606 Comment/tissue specificity P21731-3;Isoform 1;Alpha liver UBERON:0002107 Y Y PubMed:9838218 PENTACON #ORIGINAL data type: Comment/alternative products/isoform AAP, DGA 4/21/2014 3 3300007170 Faith P21731 6915 TBXA2R Homo sapiens 9606 Comment/tissue specificity P21731-3;Isoform 1;Alpha bronchial smooth muscle cell BTO:0004402 bronchial smooth muscle cell CL:0002598 Y Y PubMed:12921856 PENTACON #ORIGINAL data type: Comment/alternative products/isoform AAP, DGA 4/21/2014 3 3300007171 Faith P21731 6915 TBXA2R Homo sapiens 9606 Comment/tissue specificity P21731-2;Isoform 2;Beta HUVEC cell BTO:0001949 Y Y PubMed:8034687 PubMed:9838218 PENTACON down regulated when stimulated with endoperoxide analog U46619#ORIGINAL data type: Comment/alternative products/isoform AAP, DGA 4/21/2014 3 3300007172 Faith P21731 6915 TBXA2R Homo sapiens 9606 Comment/tissue specificity P21731-2;Isoform 2;Beta placenta BTO:0001078 Y Y PubMed:8034687 PENTACON #ORIGINAL data type: Comment/alternative products/isoform AAP, DGA 4/21/2014 3 3300007173 Faith P21731 6915 TBXA2R Homo sapiens 9606 Comment/tissue specificity P21731-2;Isoform 2;Beta placenta UBERON:0001987 Y Y PubMed:8034687 PENTACON #ORIGINAL data type: Comment/alternative products/isoform AAP, DGA 4/21/2014 3 3300007174 Faith P21731 6915 TBXA2R Homo sapiens 9606 Comment/tissue specificity P21731-2;Isoform 2;Beta blood platelet BTO:0000132 platelet CL:0000233 Y Y PubMed:8613548 PENTACON #ORIGINAL data type: Comment/alternative products/isoform AAP, DGA 4/21/2014 3 3300007175 Faith P21731 6915 TBXA2R Homo sapiens 9606 Comment/tissue specificity P21731-2;Isoform 2;Beta HEL 92.1.7 cell CLO:0003682 Y Y PubMed:9838218 PENTACON #ORIGINAL data type: Comment/alternative products/isoform AAP, DGA 4/21/2014 3 3300007176 Faith P21731 6915 TBXA2R Homo sapiens 9606 Comment/tissue specificity P21731-2;Isoform 2;Beta aortic smooth muscle cell BTO:0004577 immortal smooth muscle cell line cell CLO:0000078 Y Y PubMed:9838218 PENTACON #ORIGINAL data type: Comment/alternative products/isoform AAP, DGA 4/21/2014 3 3300007177 Faith P21731 6915 TBXA2R Homo sapiens 9606 Comment/tissue specificity P21731-2;Isoform 2;Beta aortic smooth muscle cell BTO:0004577 fetus BTO:0000449 immortal smooth muscle cell line cell CLO:0000078 Y Y PubMed:9838218 PENTACON #ORIGINAL data type: Comment/alternative products/isoform AAP, DGA 4/21/2014 3 3300007178 Faith P21731 6915 TBXA2R Homo sapiens 9606 Comment/tissue specificity P21731-2;Isoform 2;Beta uterus BTO:0001424 Y Y PubMed:9838218 PENTACON #ORIGINAL data type: Comment/alternative products/isoform AAP, DGA 4/21/2014 3 3300007179 Faith P21731 6915 TBXA2R Homo sapiens 9606 Comment/tissue specificity P21731-2;Isoform 2;Beta uterus UBERON:0000995 Y Y PubMed:9838218 PENTACON #ORIGINAL data type: Comment/alternative products/isoform AAP, DGA 4/21/2014 3 3300007180 Faith P21731 6915 TBXA2R Homo sapiens 9606 Comment/tissue specificity P21731-2;Isoform 2;Beta brain BTO:0000142 Y Y PubMed:9838218 PENTACON #ORIGINAL data type: Comment/alternative products/isoform AAP, DGA 4/21/2014 3 3300007181 Faith P21731 6915 TBXA2R Homo sapiens 9606 Comment/tissue specificity P21731-2;Isoform 2;Beta brain UBERON:0000955 Y Y PubMed:9838218 PENTACON #ORIGINAL data type: Comment/alternative products/isoform AAP, DGA 4/21/2014 3 3300007182 Faith P21731 6915 TBXA2R Homo sapiens 9606 Comment/tissue specificity P21731-2;Isoform 2;Beta brain BTO:0000142 fetus BTO:0000449 Y Y PubMed:9838218 PENTACON #ORIGINAL data type: Comment/alternative products/isoform AAP, DGA 4/21/2014 3 3300007183 Faith P21731 6915 TBXA2R Homo sapiens 9606 Comment/tissue specificity P21731-2;Isoform 2;Beta brain UBERON:0000955 fetus BTO:0000449 Y Y PubMed:9838218 PENTACON #ORIGINAL data type: Comment/alternative products/isoform AAP, DGA 4/21/2014 3 3300007184 Faith P21731 6915 TBXA2R Homo sapiens 9606 Comment/tissue specificity P21731-2;Isoform 2;Beta thymus BTO:0001374 Y Y PubMed:9838218 PENTACON #ORIGINAL data type: Comment/alternative products/isoform AAP, DGA 4/21/2014 3 3300007185 Faith P21731 6915 TBXA2R Homo sapiens 9606 Comment/tissue specificity P21731-2;Isoform 2;Beta thymus UBERON:0002370 Y Y PubMed:9838218 PENTACON #ORIGINAL data type: Comment/alternative products/isoform AAP, DGA 4/21/2014 3 3300007186 Faith P21731 6915 TBXA2R Homo sapiens 9606 Comment/tissue specificity P21731-2;Isoform 2;Beta small intestine BTO:0000651 Y Y PubMed:9838218 PENTACON #ORIGINAL data type: Comment/alternative products/isoform AAP, DGA 4/21/2014 3 3300007187 Faith P21731 6915 TBXA2R Homo sapiens 9606 Comment/tissue specificity P21731-2;Isoform 2;Beta small intestine UBERON:0002108 Y Y PubMed:9838218 PENTACON #ORIGINAL data type: Comment/alternative products/isoform AAP, DGA 4/21/2014 3 3300007188 Faith P21731 6915 TBXA2R Homo sapiens 9606 Comment/tissue specificity P21731-2;Isoform 2;Beta liver BTO:0000759 Y Y PubMed:9838218 PENTACON #ORIGINAL data type: Comment/alternative products/isoform AAP, DGA 4/21/2014 3 3300007189 Faith P21731 6915 TBXA2R Homo sapiens 9606 Comment/tissue specificity P21731-2;Isoform 2;Beta liver UBERON:0002107 Y Y PubMed:9838218 PENTACON #ORIGINAL data type: Comment/alternative products/isoform AAP, DGA 4/21/2014 3 3300007190 Faith P21731 6915 TBXA2R Homo sapiens 9606 Comment/tissue specificity P21731-2;Isoform 2;Beta bronchial smooth muscle cell BTO:0004402 bronchial smooth muscle cell CL:0002598 Y Y PubMed:12921856 PENTACON #ORIGINAL data type: Comment/alternative products/isoform AAP, DGA 4/21/2014 3 3300007191 Rose/Faith P24557 6916 TBXAS1 Homo sapiens 9606 Comment/Involvement in disease G481W; In GHDD. MIM:231095 bone disease DOID:0080001 VAR_044389 Y Y ECO:0000006 PubMed:18264100 UniProtKB HDO term more general than OMIM.#ORIGINAL data type: Feature/sequence variant AAP, DGA 2/6/2013 147 3300007226 Rose/Faith P24557 6916 TBXAS1 Homo sapiens 9606 Comment/Involvement in disease L487P; In GHDD. MIM:231095 bone disease DOID:0080001 VAR_044390 Y Y ECO:0000006 PubMed:18264100 UniProtKB HDO term more general than OMIM.#ORIGINAL data type: Feature/sequence variant AAP, DGA 2/6/2013 147 3300007228 Rose P24557 6916 TBXAS1 Homo sapiens 9606 Comment/Involvement in disease L82P; In GHDD. MIM:231095 bone disease DOID:0080001 VAR_044386 Y Y ECO:0000006 PubMed:18264100 UniProtKB HDO term more general than OMIM.#ORIGINAL data type: Feature/sequence variant AAP, DGA 2/6/2013 147 3300007230 Rose/Faith P24557 6916 TBXAS1 Homo sapiens 9606 Comment/Involvement in disease R412Q; In GHDD. MIM:231095 bone disease DOID:0080001 VAR_044388 Y Y ECO:0000006 PubMed:18264100 UniProtKB HDO term more general than OMIM.#ORIGINAL data type: Feature/sequence variant AAP, DGA 2/6/2013 147 3300007233 Rose P24557 6916 TBXAS1 Homo sapiens 9606 Comment/Involvement in disease R85W; In a breast cancer sample; somatic mutation. breast cancer DOID:1612 VAR_036294 Y Y ECO:0000006 PubMed:16959974 UniProtKB #ORIGINAL data type: Feature/sequence variant AAP, DGA 2/6/2013 147 3300007237 Faith P33527 4363 ABCC1 Homo sapiens 9606 Comment/tissue specificity Lung, testis and peripheral blood mononuclear cells. peripheral blood mononuclear cell BTO:0001025 mononuclear cell CL:0000842 Y Y UniProtKB no PBMC in CL AAP, DGA 5/1/2013 139 3300007239 Faith P33527 4363 ABCC1 Homo sapiens 9606 Comment/subcellular location Cell membrane;Multi-pass membrane protein plasma membrane GO:0005886 SL-0039 Y Y UniProtKB linked to Reactome and GO Ref in GO AAP, DGA 5/1/2013 139 3300007241 Faith P33527 4363 ABCC1 Homo sapiens 9606 Comment/tissue specificity Lung, testis and peripheral blood mononuclear cells. lung BTO:0000763 Y Y UniProtKB AAP, DGA 5/1/2013 139 3300007242 Faith P33527 4363 ABCC1 Homo sapiens 9606 Comment/tissue specificity Lung, testis and peripheral blood mononuclear cells. lung UBERON:0002048 Y Y UniProtKB AAP, DGA 5/1/2013 139 3300007243 Faith P33527 4363 ABCC1 Homo sapiens 9606 Comment/tissue specificity Lung, testis and peripheral blood mononuclear cells. testis BTO:0001363 Y Y UniProtKB AAP, DGA 5/1/2013 139 3300007244 Faith P33527 4363 ABCC1 Homo sapiens 9606 Comment/tissue specificity Lung, testis and peripheral blood mononuclear cells. testis UBERON:0000473 Y Y UniProtKB AAP, DGA 5/1/2013 139 3300007245 Faith O15439 10257 ABCC4 Homo sapiens 9606 Comment/tissue specificity Widely expressed, with particularly high levels in prostate, but is barely detectable in liver. prostate gland BTO:0001129 Y Y UniProtKB AAP 5/1/2013 126 3300007249 Faith O15439 10257 ABCC4 Homo sapiens 9606 Comment/tissue specificity Widely expressed, with particularly high levels in prostate, but is barely detectable in liver. prostate gland UBERON:0002367 Y Y UniProtKB AAP 5/1/2013 126 3300007250 Faith O15439 10257 ABCC4 Homo sapiens 9606 Comment/tissue specificity Widely expressed, with particularly high levels in prostate, but is barely detectable in liver. liver BTO:0000759 Y Y UniProtKB barely detectable AAP 5/1/2013 126 3300007251 Faith O15439 10257 ABCC4 Homo sapiens 9606 Comment/tissue specificity Widely expressed, with particularly high levels in prostate, but is barely detectable in liver. liver UBERON:0002107 Y Y UniProtKB barely detectable AAP 5/1/2013 126 3300007252 Katie Q9H845 28976 ACAD9 Homo sapiens 9606 Comment/tissue specificity Ubiquitously expressed in most normal human tissues and cancer cell lines with high level of expression in heart, skeletal muscles, brain, kidney and liver. brain BTO:0000142 Y Y ECO:0000006 PubMed:12359260 UniProtKB AAP 2/6/2013 109 3300007258 Katie Q9H845 28976 ACAD9 Homo sapiens 9606 Comment/tissue specificity Ubiquitously expressed in most normal human tissues and cancer cell lines with high level of expression in heart, skeletal muscles, brain, kidney and liver. brain UBERON:0000955 Y Y ECO:0000006 PubMed:12359260 UniProtKB AAP 2/6/2013 109 3300007259 Katie Q9H845 28976 ACAD9 Homo sapiens 9606 Comment/tissue specificity Ubiquitously expressed in most normal human tissues and cancer cell lines with high level of expression in heart, skeletal muscles, brain, kidney and liver. heart BTO:0000562 Y Y ECO:0000006 PubMed:12359260 UniProtKB AAP 2/6/2013 109 3300007260 Katie Q9H845 28976 ACAD9 Homo sapiens 9606 Comment/tissue specificity Ubiquitously expressed in most normal human tissues and cancer cell lines with high level of expression in heart, skeletal muscles, brain, kidney and liver. heart UBERON:0000948 Y Y ECO:0000006 PubMed:12359260 UniProtKB AAP 2/6/2013 109 3300007261 Katie Q9H845 28976 ACAD9 Homo sapiens 9606 Comment/tissue specificity Ubiquitously expressed in most normal human tissues and cancer cell lines with high level of expression in heart, skeletal muscles, brain, kidney and liver. kidney BTO:0000671 Y Y ECO:0000006 PubMed:12359260 UniProtKB AAP 2/6/2013 109 3300007262 Katie Q9H845 28976 ACAD9 Homo sapiens 9606 Comment/tissue specificity Ubiquitously expressed in most normal human tissues and cancer cell lines with high level of expression in heart, skeletal muscles, brain, kidney and liver. kidney UBERON:0002113 Y Y ECO:0000006 PubMed:12359260 UniProtKB AAP 2/6/2013 109 3300007263 Katie Q9H845 28976 ACAD9 Homo sapiens 9606 Comment/tissue specificity Ubiquitously expressed in most normal human tissues and cancer cell lines with high level of expression in heart, skeletal muscles, brain, kidney and liver. liver BTO:0000759 Y Y ECO:0000006 PubMed:12359260 UniProtKB AAP 2/6/2013 109 3300007264 Katie Q9H845 28976 ACAD9 Homo sapiens 9606 Comment/tissue specificity Ubiquitously expressed in most normal human tissues and cancer cell lines with high level of expression in heart, skeletal muscles, brain, kidney and liver. liver UBERON:0002107 Y Y ECO:0000006 PubMed:12359260 UniProtKB AAP 2/6/2013 109 3300007265 Katie Q9H845 28976 ACAD9 Homo sapiens 9606 Comment/tissue specificity Ubiquitously expressed in most normal human tissues and cancer cell lines with high level of expression in heart, skeletal muscles, brain, kidney and liver. skeletal muscle BTO:0001103 Y Y ECO:0000006 PubMed:12359260 UniProtKB AAP 2/6/2013 109 3300007266 Katie Q9H845 28976 ACAD9 Homo sapiens 9606 Comment/tissue specificity Ubiquitously expressed in most normal human tissues and cancer cell lines with high level of expression in heart, skeletal muscles, brain, kidney and liver. skeletal muscle tissue UBERON:0001134 Y Y ECO:0000006 PubMed:12359260 UniProtKB AAP 2/6/2013 109 3300007267 Katie Q9H845 28976 ACAD9 Homo sapiens 9606 EC 1.3.99.- Y Y ECO:0000311 EC number UniProtKB AAP 2/6/2013 109 3300007268 Rose P24752 38 ACAT1 Homo sapiens 9606 Comment/Involvement in disease 3-ketothiolase deficiency (3KTD) [MIM:203750]: An inborn error of isoleucine catabolism characterized by intermittent ketoacidotic attacks associated with unconsciousness. Some patients die during an attack or are mentally retarded. Urinary excretion of 2-methyl-3-hydroxybutyric acid, 2-methylacetoacetic acid, triglylglycine, butanone is increased. It seems likely that the severity of this disease correlates better with the environmental or acquired factors than with the ACAT1 genotype. Note=The disease is caused by mutations affecting the gene represented in this entry. MIM:203750 beta-ketothiolase deficiency DOID:14723 The disease is caused by mutations affecting the gene represented in this entry. Y Y ECO:0000006 PubMed:1346617 PubMed:1715688 PubMed:7728148 PubMed:9744475 UniProtKB AAP, DGA 5/1/2013 144 3300007270 Rose P24752 38 ACAT1 Homo sapiens 9606 EC 2.3.1.9 Y Y ECO:0000311 EC number UniProtKB AAP, DGA 11/28/2012 141 3300007272 Faith Q86TX2 641371 ACOT1 Homo sapiens 9606 EC 3.1.2.2 Y Y EC number UniProtKB AAP 5/1/2013 87 3300007273 Faith Q8WXI4 26027 ACOT11 Homo sapiens 9606 EC 3.1.2.- Y Y EC number UniProtKB AAP 5/1/2013 113 3300007276 Faith Q9NPJ3 55856 ACOT13 Homo sapiens 9606 EC 3.1.2.- Y Y EC number UniProtKB AAP 5/29/2013 101 3300007281 Faith Q9NPJ3 55856 ACOT13 Homo sapiens 9606 Comment/subcellular location Cytoplasm cytoplasm GO:0005737 SL-0086 Y Y UniProtKB AAP 5/29/2013 101 3300007283 Faith P49753 10965 ACOT2 Homo sapiens 9606 EC 3.1.2.2 Y Y EC number UniProtKB AAP 5/29/2013 127 3300007285 Faith P49753 10965 ACOT2 Homo sapiens 9606 Comment/tissue specificity Strongest expression in heart, liver, muscle and kidney. Weak in placenta and pancreas. heart BTO:0000562 Y Y ECO:0000006 PubMed:16940157 UniProtKB AAP 5/29/2013 127 3300007289 Faith P49753 10965 ACOT2 Homo sapiens 9606 Comment/tissue specificity Strongest expression in heart, liver, muscle and kidney. Weak in placenta and pancreas. heart UBERON:0000948 Y Y ECO:0000006 PubMed:16940157 UniProtKB AAP 5/29/2013 127 3300007290 Faith P49753 10965 ACOT2 Homo sapiens 9606 Comment/tissue specificity Strongest expression in heart, liver, muscle and kidney. Weak in placenta and pancreas. liver BTO:0000759 Y Y ECO:0000006 PubMed:16940157 UniProtKB AAP 5/29/2013 127 3300007291 Faith P49753 10965 ACOT2 Homo sapiens 9606 Comment/tissue specificity Strongest expression in heart, liver, muscle and kidney. Weak in placenta and pancreas. liver UBERON:0002107 Y Y ECO:0000006 PubMed:16940157 UniProtKB AAP 5/29/2013 127 3300007292 Faith P49753 10965 ACOT2 Homo sapiens 9606 Comment/tissue specificity Strongest expression in heart, liver, muscle and kidney. Weak in placenta and pancreas. muscle BTO:0000887 Y Y ECO:0000006 PubMed:16940157 UniProtKB AAP 5/29/2013 127 3300007293 Faith P49753 10965 ACOT2 Homo sapiens 9606 Comment/tissue specificity Strongest expression in heart, liver, muscle and kidney. Weak in placenta and pancreas. musculature UBERON:0001015 Y Y ECO:0000006 PubMed:16940157 UniProtKB AAP 5/29/2013 127 3300007294 Faith P49753 10965 ACOT2 Homo sapiens 9606 Comment/tissue specificity Strongest expression in heart, liver, muscle and kidney. Weak in placenta and pancreas. kidney BTO:0000671 Y Y ECO:0000006 PubMed:16940157 UniProtKB AAP 5/29/2013 127 3300007295 Faith P49753 10965 ACOT2 Homo sapiens 9606 Comment/tissue specificity Strongest expression in heart, liver, muscle and kidney. Weak in placenta and pancreas. kidney UBERON:0002113 Y Y ECO:0000006 PubMed:16940157 UniProtKB AAP 5/29/2013 127 3300007296 Faith P49753 10965 ACOT2 Homo sapiens 9606 Comment/tissue specificity Strongest expression in heart, liver, muscle and kidney. Weak in placenta and pancreas. placenta BTO:0001078 Y Y ECO:0000006 PubMed:16940157 UniProtKB AAP 5/29/2013 127 3300007297 Faith P49753 10965 ACOT2 Homo sapiens 9606 Comment/tissue specificity Strongest expression in heart, liver, muscle and kidney. Weak in placenta and pancreas. placenta UBERON:0001987 Y Y ECO:0000006 PubMed:16940157 UniProtKB AAP 5/29/2013 127 3300007298 Faith P49753 10965 ACOT2 Homo sapiens 9606 Comment/tissue specificity Strongest expression in heart, liver, muscle and kidney. Weak in placenta and pancreas. pancreas BTO:0000988 Y Y ECO:0000006 PubMed:16940157 UniProtKB AAP 5/29/2013 127 3300007299 Faith P49753 10965 ACOT2 Homo sapiens 9606 Comment/tissue specificity Strongest expression in heart, liver, muscle and kidney. Weak in placenta and pancreas. pancreas UBERON:0001264 Y Y ECO:0000006 PubMed:16940157 UniProtKB AAP 5/29/2013 127 3300007300 Faith Q8N9L9 122970 ACOT4 Homo sapiens 9606 EC 3.1.2.2 Y Y EC number UniProtKB AAP 5/1/2013 92 3300007302 Faith Q8N9L9 122970 ACOT4 Homo sapiens 9606 Comment/tissue specificity Strongest expression in liver and kidney and weaker expression in placenta, heart, and muscle. liver BTO:0000759 Y Y ECO:0000006 PubMed:16940157 UniProtKB AAP 5/1/2013 92 3300007306 Faith Q8N9L9 122970 ACOT4 Homo sapiens 9606 Comment/tissue specificity Strongest expression in liver and kidney and weaker expression in placenta, heart, and muscle. liver UBERON:0002107 Y Y ECO:0000006 PubMed:16940157 UniProtKB AAP 5/1/2013 92 3300007307 Faith Q8N9L9 122970 ACOT4 Homo sapiens 9606 Comment/tissue specificity Strongest expression in liver and kidney and weaker expression in placenta, heart, and muscle. kidney BTO:0000671 Y Y ECO:0000006 PubMed:16940157 UniProtKB AAP 5/1/2013 92 3300007308 Faith Q8N9L9 122970 ACOT4 Homo sapiens 9606 Comment/tissue specificity Strongest expression in liver and kidney and weaker expression in placenta, heart, and muscle. kidney UBERON:0002113 Y Y ECO:0000006 PubMed:16940157 UniProtKB AAP 5/1/2013 92 3300007309 Faith Q8N9L9 122970 ACOT4 Homo sapiens 9606 Comment/tissue specificity Strongest expression in liver and kidney and weaker expression in placenta, heart, and muscle. placenta BTO:0001078 Y Y ECO:0000006 PubMed:16940157 UniProtKB AAP 5/1/2013 92 3300007310 Faith Q8N9L9 122970 ACOT4 Homo sapiens 9606 Comment/tissue specificity Strongest expression in liver and kidney and weaker expression in placenta, heart, and muscle. placenta UBERON:0001987 Y Y ECO:0000006 PubMed:16940157 UniProtKB AAP 5/1/2013 92 3300007311 Faith Q8N9L9 122970 ACOT4 Homo sapiens 9606 Comment/tissue specificity Strongest expression in liver and kidney and weaker expression in placenta, heart, and muscle. heart BTO:0000562 Y Y ECO:0000006 PubMed:16940157 UniProtKB AAP 5/1/2013 92 3300007312 Faith Q8N9L9 122970 ACOT4 Homo sapiens 9606 Comment/tissue specificity Strongest expression in liver and kidney and weaker expression in placenta, heart, and muscle. heart UBERON:0000948 Y Y ECO:0000006 PubMed:16940157 UniProtKB AAP 5/1/2013 92 3300007313 Faith Q8N9L9 122970 ACOT4 Homo sapiens 9606 Comment/tissue specificity Strongest expression in liver and kidney and weaker expression in placenta, heart, and muscle. muscle BTO:0000887 Y Y ECO:0000006 PubMed:16940157 UniProtKB AAP 5/1/2013 92 3300007314 Faith Q8N9L9 122970 ACOT4 Homo sapiens 9606 Comment/tissue specificity Strongest expression in liver and kidney and weaker expression in placenta, heart, and muscle. musculature UBERON:0001015 Y Y ECO:0000006 PubMed:16940157 UniProtKB AAP 5/1/2013 92 3300007315 Faith O00154 11332 ACOT7 Homo sapiens 9606 EC 3.1.2.2 Y Y EC number UniProtKB AAP 6/26/2013 124 3300007316 Faith O14734 10005 ACOT8 Homo sapiens 9606 EC 3.1.2.27 Y Y EC number UniProtKB AAP 5/29/2013 124 3300007320 Faith O14734 10005 ACOT8 Homo sapiens 9606 Comment/tissue specificity Detected in a T-cell line (at protein level). Ubiquitous. JURKAT cell BTO:0000661 JURKAT cell CLO:0007043 Y Y ECO:0000006 PubMed:9299485 UniProtKB Screened Jurkat cDNA library AAP 5/29/2013 124 3300007323 Faith O14734 10005 ACOT8 Homo sapiens 9606 Comment/tissue specificity heart BTO:0000562 Y Y ECO:0000006 PubMed:9299485 PENTACON Found when looking for the T-cell line name AAP 4/21/2014 3 3300007325 Faith O14734 10005 ACOT8 Homo sapiens 9606 Comment/tissue specificity heart UBERON:0000948 Y Y ECO:0000006 PubMed:9299485 PENTACON Found when looking for the T-cell line name AAP 4/21/2014 3 3300007326 Faith O14734 10005 ACOT8 Homo sapiens 9606 Comment/tissue specificity brain BTO:0000142 Y Y ECO:0000006 PubMed:9299485 PENTACON Found when looking for the T-cell line name AAP 4/21/2014 3 3300007327 Faith O14734 10005 ACOT8 Homo sapiens 9606 Comment/tissue specificity brain UBERON:0000955 Y Y ECO:0000006 PubMed:9299485 PENTACON Found when looking for the T-cell line name AAP 4/21/2014 3 3300007328 Faith O14734 10005 ACOT8 Homo sapiens 9606 Comment/tissue specificity placenta BTO:0001078 Y Y ECO:0000006 PubMed:9299485 PENTACON Found when looking for the T-cell line name AAP 4/21/2014 3 3300007329 Faith O14734 10005 ACOT8 Homo sapiens 9606 Comment/tissue specificity placenta UBERON:0001987 Y Y ECO:0000006 PubMed:9299485 PENTACON Found when looking for the T-cell line name AAP 4/21/2014 3 3300007330 Faith O14734 10005 ACOT8 Homo sapiens 9606 Comment/tissue specificity lung BTO:0000763 Y Y ECO:0000006 PubMed:9299485 PENTACON Found when looking for the T-cell line name AAP 4/21/2014 3 3300007331 Faith O14734 10005 ACOT8 Homo sapiens 9606 Comment/tissue specificity lung UBERON:0002048 Y Y ECO:0000006 PubMed:9299485 PENTACON Found when looking for the T-cell line name AAP 4/21/2014 3 3300007332 Faith O14734 10005 ACOT8 Homo sapiens 9606 Comment/tissue specificity liver BTO:0000759 Y Y ECO:0000006 PubMed:9299485 PENTACON Found when looking for the T-cell line name AAP 4/21/2014 3 3300007333 Faith O14734 10005 ACOT8 Homo sapiens 9606 Comment/tissue specificity liver UBERON:0002107 Y Y ECO:0000006 PubMed:9299485 PENTACON Found when looking for the T-cell line name AAP 4/21/2014 3 3300007334 Faith O14734 10005 ACOT8 Homo sapiens 9606 Comment/tissue specificity skeletal muscle BTO:0001103 Y Y ECO:0000006 PubMed:9299485 PENTACON Found when looking for the T-cell line name AAP 4/21/2014 3 3300007335 Faith O14734 10005 ACOT8 Homo sapiens 9606 Comment/tissue specificity skeletal muscle tissue UBERON:0001134 Y Y ECO:0000006 PubMed:9299485 PENTACON Found when looking for the T-cell line name AAP 4/21/2014 3 3300007336 Faith O14734 10005 ACOT8 Homo sapiens 9606 Comment/tissue specificity kidney BTO:0000671 Y Y ECO:0000006 PubMed:9299485 PENTACON Found when looking for the T-cell line name AAP 4/21/2014 3 3300007337 Faith O14734 10005 ACOT8 Homo sapiens 9606 Comment/tissue specificity kidney UBERON:0002113 Y Y ECO:0000006 PubMed:9299485 PENTACON Found when looking for the T-cell line name AAP 4/21/2014 3 3300007338 Faith O14734 10005 ACOT8 Homo sapiens 9606 Comment/tissue specificity pancreas BTO:0000988 Y Y ECO:0000006 PubMed:9299485 PENTACON Found when looking for the T-cell line name AAP 4/21/2014 3 3300007339 Faith O14734 10005 ACOT8 Homo sapiens 9606 Comment/tissue specificity pancreas UBERON:0001264 Y Y ECO:0000006 PubMed:9299485 PENTACON Found when looking for the T-cell line name AAP 4/21/2014 3 3300007340 Faith O14734 10005 ACOT8 Homo sapiens 9606 Comment/tissue specificity spleen BTO:0001281 Y Y ECO:0000006 PubMed:9299485 PENTACON Found when looking for the T-cell line name AAP 4/21/2014 3 3300007341 Faith O14734 10005 ACOT8 Homo sapiens 9606 Comment/tissue specificity spleen UBERON:0002106 Y Y ECO:0000006 PubMed:9299485 PENTACON Found when looking for the T-cell line name AAP 4/21/2014 3 3300007342 Faith O14734 10005 ACOT8 Homo sapiens 9606 Comment/tissue specificity thymus BTO:0001374 Y Y ECO:0000006 PubMed:9299485 PENTACON Found when looking for the T-cell line name AAP 4/21/2014 3 3300007343 Faith O14734 10005 ACOT8 Homo sapiens 9606 Comment/tissue specificity thymus UBERON:0002370 Y Y ECO:0000006 PubMed:9299485 PENTACON Found when looking for the T-cell line name AAP 4/21/2014 3 3300007344 Faith O14734 10005 ACOT8 Homo sapiens 9606 Comment/tissue specificity prostate gland BTO:0001129 Y Y ECO:0000006 PubMed:9299485 PENTACON Found when looking for the T-cell line name AAP 4/21/2014 3 3300007345 Faith O14734 10005 ACOT8 Homo sapiens 9606 Comment/tissue specificity prostate gland UBERON:0002367 Y Y ECO:0000006 PubMed:9299485 PENTACON Found when looking for the T-cell line name AAP 4/21/2014 3 3300007346 Faith O14734 10005 ACOT8 Homo sapiens 9606 Comment/tissue specificity testis BTO:0001363 Y Y ECO:0000006 PubMed:9299485 PENTACON Found when looking for the T-cell line name AAP 4/21/2014 3 3300007347 Faith O14734 10005 ACOT8 Homo sapiens 9606 Comment/tissue specificity testis UBERON:0000473 Y Y ECO:0000006 PubMed:9299485 PENTACON Found when looking for the T-cell line name AAP 4/21/2014 3 3300007348 Faith O14734 10005 ACOT8 Homo sapiens 9606 Comment/tissue specificity ovary BTO:0000975 Y Y ECO:0000006 PubMed:9299485 PENTACON Found when looking for the T-cell line name AAP 4/21/2014 3 3300007349 Faith O14734 10005 ACOT8 Homo sapiens 9606 Comment/tissue specificity female gonad UBERON:0000992 Y Y ECO:0000006 PubMed:9299485 PENTACON Found when looking for the T-cell line name AAP 4/21/2014 3 3300007350 Faith O14734 10005 ACOT8 Homo sapiens 9606 Comment/tissue specificity small intestine BTO:0000651 Y Y ECO:0000006 PubMed:9299485 PENTACON Found when looking for the T-cell line name AAP 4/21/2014 3 3300007351 Faith O14734 10005 ACOT8 Homo sapiens 9606 Comment/tissue specificity small intestine UBERON:0002108 Y Y ECO:0000006 PubMed:9299485 PENTACON Found when looking for the T-cell line name AAP 4/21/2014 3 3300007352 Faith O14734 10005 ACOT8 Homo sapiens 9606 Comment/tissue specificity colon BTO:0000269 Y Y ECO:0000006 PubMed:9299485 PENTACON Found when looking for the T-cell line name AAP 4/21/2014 3 3300007353 Faith O14734 10005 ACOT8 Homo sapiens 9606 Comment/tissue specificity colon UBERON:0001155 Y Y ECO:0000006 PubMed:9299485 PENTACON Found when looking for the T-cell line name AAP 4/21/2014 3 3300007354 Faith O14734 10005 ACOT8 Homo sapiens 9606 Comment/tissue specificity peripheral blood lymphocyte BTO:0004729 Y Y ECO:0000006 PubMed:9299485 PENTACON Found when looking for the T-cell line name AAP 4/21/2014 3 3300007355 Rose/Faith P33121 2180 ACSL1 Homo sapiens 9606 Comment/developmental stage Expressed during the early stages of erythroid development while expression is very low in reticulocytes and young erythrocytes. erythrocyte BTO:0000424 erythrocyte CL:0000232 Y Y ECO:0000311 UniProtKB no Uberon term AAP 1/9/2013 123 3300007356 Rose P33121 2180 ACSL1 Homo sapiens 9606 Comment/developmental stage Expressed during the early stages of erythroid development while expression is very low in reticulocytes and young erythrocytes. erythroid cell BTO:0002731 erythroid lineage cell CL:0000764 Y Y ECO:0000311 UniProtKB no Uberon term AAP 1/9/2013 123 3300007357 Rose P33121 2180 ACSL1 Homo sapiens 9606 Comment/tissue specificity Highly expressed in liver, heart, skeletal muscle, kidney and erythroid cells, and to a lesser extent in brain, lung, placenta and pancreas. erythroid cell BTO:0002731 erythroid lineage cell CL:0000764 Y Y ECO:0000006 PubMed:10548543 UniProtKB no Uberon term AAP 1/9/2013 123 3300007358 Rose/Faith P33121 2180 ACSL1 Homo sapiens 9606 Comment/developmental stage Expressed during the early stages of erythroid development while expression is very low in reticulocytes and young erythrocytes. reticulocyte BTO:0001173 reticulocyte CL:0000558 Y Y ECO:0000311 UniProtKB no Uberon term AAP 1/9/2013 123 3300007359 Rose P33121 2180 ACSL1 Homo sapiens 9606 Comment/tissue specificity Highly expressed in liver, heart, skeletal muscle, kidney and erythroid cells, and to a lesser extent in brain, lung, placenta and pancreas. brain BTO:0000142 Y Y ECO:0000006 PubMed:10548543 UniProtKB AAP 1/9/2013 123 3300007366 Rose P33121 2180 ACSL1 Homo sapiens 9606 Comment/tissue specificity Highly expressed in liver, heart, skeletal muscle, kidney and erythroid cells, and to a lesser extent in brain, lung, placenta and pancreas. brain UBERON:0000955 Y Y ECO:0000006 PubMed:10548543 UniProtKB AAP 1/9/2013 123 3300007367 Rose P33121 2180 ACSL1 Homo sapiens 9606 Comment/tissue specificity Highly expressed in liver, heart, skeletal muscle, kidney and erythroid cells, and to a lesser extent in brain, lung, placenta and pancreas. heart BTO:0000562 Y Y ECO:0000006 PubMed:10548543 UniProtKB AAP 1/9/2013 123 3300007368 Rose P33121 2180 ACSL1 Homo sapiens 9606 Comment/tissue specificity Highly expressed in liver, heart, skeletal muscle, kidney and erythroid cells, and to a lesser extent in brain, lung, placenta and pancreas. heart UBERON:0000948 Y Y ECO:0000006 PubMed:10548543 UniProtKB AAP 1/9/2013 123 3300007369 Rose P33121 2180 ACSL1 Homo sapiens 9606 Comment/tissue specificity Highly expressed in liver, heart, skeletal muscle, kidney and erythroid cells, and to a lesser extent in brain, lung, placenta and pancreas. kidney BTO:0000671 Y Y ECO:0000006 PubMed:10548543 UniProtKB AAP 1/9/2013 123 3300007370 Rose P33121 2180 ACSL1 Homo sapiens 9606 Comment/tissue specificity Highly expressed in liver, heart, skeletal muscle, kidney and erythroid cells, and to a lesser extent in brain, lung, placenta and pancreas. kidney UBERON:0002113 Y Y ECO:0000006 PubMed:10548543 UniProtKB AAP 1/9/2013 123 3300007371 Rose P33121 2180 ACSL1 Homo sapiens 9606 Comment/tissue specificity Highly expressed in liver, heart, skeletal muscle, kidney and erythroid cells, and to a lesser extent in brain, lung, placenta and pancreas. liver BTO:0000759 Y Y ECO:0000006 PubMed:10548543 UniProtKB AAP 1/9/2013 123 3300007372 Rose P33121 2180 ACSL1 Homo sapiens 9606 Comment/tissue specificity Highly expressed in liver, heart, skeletal muscle, kidney and erythroid cells, and to a lesser extent in brain, lung, placenta and pancreas. liver UBERON:0002107 Y Y ECO:0000006 PubMed:10548543 UniProtKB AAP 1/9/2013 123 3300007373 Rose P33121 2180 ACSL1 Homo sapiens 9606 Comment/tissue specificity Highly expressed in liver, heart, skeletal muscle, kidney and erythroid cells, and to a lesser extent in brain, lung, placenta and pancreas. lung BTO:0000763 Y Y ECO:0000006 PubMed:10548543 UniProtKB AAP 1/9/2013 123 3300007374 Rose P33121 2180 ACSL1 Homo sapiens 9606 Comment/tissue specificity Highly expressed in liver, heart, skeletal muscle, kidney and erythroid cells, and to a lesser extent in brain, lung, placenta and pancreas. lung UBERON:0002048 Y Y ECO:0000006 PubMed:10548543 UniProtKB AAP 1/9/2013 123 3300007375 Rose P33121 2180 ACSL1 Homo sapiens 9606 Comment/tissue specificity Highly expressed in liver, heart, skeletal muscle, kidney and erythroid cells, and to a lesser extent in brain, lung, placenta and pancreas. pancreas BTO:0000988 Y Y ECO:0000006 PubMed:10548543 UniProtKB AAP 1/9/2013 123 3300007376 Rose P33121 2180 ACSL1 Homo sapiens 9606 Comment/tissue specificity Highly expressed in liver, heart, skeletal muscle, kidney and erythroid cells, and to a lesser extent in brain, lung, placenta and pancreas. pancreas UBERON:0001264 Y Y ECO:0000006 PubMed:10548543 UniProtKB AAP 1/9/2013 123 3300007377 Rose P33121 2180 ACSL1 Homo sapiens 9606 Comment/tissue specificity Highly expressed in liver, heart, skeletal muscle, kidney and erythroid cells, and to a lesser extent in brain, lung, placenta and pancreas. placenta BTO:0001078 Y Y ECO:0000006 PubMed:10548543 UniProtKB AAP 1/9/2013 123 3300007378 Rose P33121 2180 ACSL1 Homo sapiens 9606 Comment/tissue specificity Highly expressed in liver, heart, skeletal muscle, kidney and erythroid cells, and to a lesser extent in brain, lung, placenta and pancreas. placenta UBERON:0001987 Y Y ECO:0000006 PubMed:10548543 UniProtKB AAP 1/9/2013 123 3300007379 Rose P33121 2180 ACSL1 Homo sapiens 9606 Comment/tissue specificity Highly expressed in liver, heart, skeletal muscle, kidney and erythroid cells, and to a lesser extent in brain, lung, placenta and pancreas. skeletal muscle BTO:0001103 Y Y ECO:0000006 PubMed:10548543 UniProtKB AAP 1/9/2013 123 3300007380 Rose P33121 2180 ACSL1 Homo sapiens 9606 Comment/tissue specificity Highly expressed in liver, heart, skeletal muscle, kidney and erythroid cells, and to a lesser extent in brain, lung, placenta and pancreas. skeletal muscle tissue UBERON:0001134 Y Y ECO:0000006 PubMed:10548543 UniProtKB AAP 1/9/2013 123 3300007381 Rose P33121 2180 ACSL1 Homo sapiens 9606 EC 6.2.1.3 Y Y ECO:0000311 EC number UniProtKB AAP 1/9/2013 123 3300007382 Mike O95573 2181 ACSL3 Homo sapiens 9606 EC 6.2.1.3 Y Y ECO:0000311 EC number UniProtKB AAP 1/9/2013 115 3300007388 Mike O60488 2182 ACSL4 Homo sapiens 9606 Comment/Involvement in disease Mental retardation, X-linked 63 (MRX63) [MIM:300387]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic X-linked mental retardation, while syndromic mental retardation presents with associated physical, neurological and/or psychiatric manifestations. Note=The disease is caused by mutations affecting the gene represented in this entry. MIM:300387 intellectual disability DOID:1059 The disease is caused by mutations affecting the gene represented in this entry. Y Y ECO:0000006 PubMed:11889465 UniProtKB ICD:317-319.99 319 AAP 5/1/2013 134 3300007390 Mike O60488 2182 ACSL4 Homo sapiens 9606 Comment/Involvement in disease Alport syndrome with mental retardation, midface hypoplasia and elliptocytosis (ATS-MR) [MIM:300194]: A X-linked contiguous gene deletion syndrome characterized by glomerulonephritis, sensorineural hearing loss, mental retardation, midface hypoplasia and elliptocytosis. Note=The gene represented in this entry may be involved in disease pathogenesis. MIM:300194 Alport syndrome DOID:10983 The gene represented in this entry may be involved in disease pathogenesis. Y Y ECO:0000311 UniProtKB The HDO term refers to the autosomal version of the disease. The OMIM term is a better match to the UniProt description. AAP 5/1/2013 134 3300007391 Mike O60488 2182 ACSL4 Homo sapiens 9606 EC 6.2.1.3 Y Y ECO:0000311 EC number UniProtKB AAP 11/28/2012 131 3300007396 Katie Q9ULC5 51703 ACSL5 Homo sapiens 9606 EC 6.2.1.3 Y Y ECO:0000311 EC number UniProtKB AAP 11/28/2012 121 3300007403 Faith Q9UKU0 23305 ACSL6 Homo sapiens 9606 Comment/tissue specificity Expressed predominantly in erythrocyte precursors, in particular in reticulocytes, fetal blood cells derived from fetal liver, hemopoietic stem cells from cord blood, bone marrow and brain. K-562 cell BTO:0000664 K-562 cell CLO:0007059 Y Y ECO:0000006 PubMed:10548543 PENTACON From publication AAP 4/21/2014 3 3300007404 Faith Q9UKU0 23305 ACSL6 Homo sapiens 9606 Comment/tissue specificity Expressed predominantly in erythrocyte precursors, in particular in reticulocytes, fetal blood cells derived from fetal liver, hemopoietic stem cells from cord blood, bone marrow and brain. reticulocyte BTO:0001173 reticulocyte CL:0000558 Y Y ECO:0000006 PubMed:10548543 UniProtKB AAP 6/26/2013 124 3300007405 Faith Q9UKU0 23305 ACSL6 Homo sapiens 9606 EC 6.2.1.3 Y Y EC number UniProtKB AAP 6/26/2013 124 3300007406 Faith Q9UKU0 23305 ACSL6 Homo sapiens 9606 Comment/tissue specificity Expressed predominantly in erythrocyte precursors, in particular in reticulocytes, fetal blood cells derived from fetal liver, hemopoietic stem cells from cord blood, bone marrow and brain. reticulocyte BTO:0001173 reticulocyte CL:0000558 Y Y ECO:0000006 PubMed:10548543 UniProtKB Erythrocyte precursors AAP 6/26/2013 124 3300007412 Faith Q9UKU0 23305 ACSL6 Homo sapiens 9606 Comment/tissue specificity Expressed predominantly in erythrocyte precursors, in particular in reticulocytes, fetal blood cells derived from fetal liver, hemopoietic stem cells from cord blood, bone marrow and brain. hematopoietic cell BTO:0000574 fetus BTO:0000449 Y Y ECO:0000006 PubMed:10548543 UniProtKB From liver AAP 6/26/2013 124 3300007413 Faith Q9UKU0 23305 ACSL6 Homo sapiens 9606 Comment/tissue specificity Expressed predominantly in erythrocyte precursors, in particular in reticulocytes, fetal blood cells derived from fetal liver, hemopoietic stem cells from cord blood, bone marrow and brain. hematopoietic stem cell BTO:0000725 umbilical cord blood cell BTO:0004054 Y Y ECO:0000006 PubMed:10548543 UniProtKB AAP 6/26/2013 124 3300007414 Faith Q9UKU0 23305 ACSL6 Homo sapiens 9606 Comment/tissue specificity Expressed predominantly in erythrocyte precursors, in particular in reticulocytes, fetal blood cells derived from fetal liver, hemopoietic stem cells from cord blood, bone marrow and brain. bone marrow BTO:0000141 Y Y ECO:0000006 PubMed:10548543 UniProtKB AAP 6/26/2013 124 3300007415 Faith Q9UKU0 23305 ACSL6 Homo sapiens 9606 Comment/tissue specificity Expressed predominantly in erythrocyte precursors, in particular in reticulocytes, fetal blood cells derived from fetal liver, hemopoietic stem cells from cord blood, bone marrow and brain. bone marrow UBERON:0002371 Y Y ECO:0000006 PubMed:10548543 UniProtKB AAP 6/26/2013 124 3300007416 Faith Q9UKU0 23305 ACSL6 Homo sapiens 9606 Comment/tissue specificity Expressed predominantly in erythrocyte precursors, in particular in reticulocytes, fetal blood cells derived from fetal liver, hemopoietic stem cells from cord blood, bone marrow and brain. brain BTO:0000142 Y Y ECO:0000006 PubMed:10548543 PENTACON From publication AAP 4/21/2014 3 3300007417 Faith Q9UKU0 23305 ACSL6 Homo sapiens 9606 Comment/tissue specificity Expressed predominantly in erythrocyte precursors, in particular in reticulocytes, fetal blood cells derived from fetal liver, hemopoietic stem cells from cord blood, bone marrow and brain. brain UBERON:0000955 Y Y ECO:0000006 PubMed:10548543 PENTACON From publication AAP 4/21/2014 3 3300007418 Faith Q9UKU0 23305 ACSL6 Homo sapiens 9606 Comment/Involvement in disease Note=A chromosomal aberration involving ACSL6 may be a cause of myelodysplastic syndrome with basophilia. Translocation t(5;12)(q31;p13) with ETV6. myelodysplastic myeloproliferative cancer DOID:4972 A chromosomal aberration involving ACSL6 may be a cause of myelodysplastic syndrome with basophilia. Translocation t(5;12)(q31;p13) with ETV6. Y Y UniProtKB myelodysplastic syndrome with basophilia AAP 6/26/2013 124 3300007420 Faith Q9UKU0 23305 ACSL6 Homo sapiens 9606 Comment/Involvement in disease Note=A chromosomal aberration involving ACSL6 may be a cause of myelodysplastic syndrome with basophilia. Translocation t(5;12)(q31;p13) with ETV6. Myelodysplastic syndrome SNOMEDCT:128623006 A chromosomal aberration involving ACSL6 may be a cause of myelodysplastic syndrome with basophilia. Translocation t(5;12)(q31;p13) with ETV6. Y Y UniProtKB myelodysplastic syndrome with basophilia AAP 6/26/2013 124 3300007421 Faith Q9UKU0 23305 ACSL6 Homo sapiens 9606 Comment/Involvement in disease Note=A chromosomal aberration involving ACSL6 may be a cause of myelodysplastic syndrome with basophilia. Translocation t(5;12)(q31;p13) with ETV6. Basophilia SNOMEDCT:65209002 Y Y UniProtKB myelodysplastic syndrome with basophilia AAP 6/26/2013 124 3300007422 Faith Q9UKU0 23305 ACSL6 Homo sapiens 9606 Comment/Involvement in disease Note=A chromosomal aberration involving ACSL6 may be a cause of acute myelogenous leukemia with eosinophilia. Translocation t(5;12)(q31;p13) with ETV6. acute myeloid leukemia DOID:9119 A chromosomal aberration involving ACSL6 may be a cause of acute myelogenous leukemia with eosinophilia. Translocation t(5;12)(q31;p13) with ETV6. Y Y UniProtKB acute myelogenous leukemia with eosinophilia AAP 6/26/2013 124 3300007423 Faith Q9UKU0 23305 ACSL6 Homo sapiens 9606 Comment/Involvement in disease Note=A chromosomal aberration involving ACSL6 may be a cause of acute myelogenous leukemia with eosinophilia. Translocation t(5;12)(q31;p13) with ETV6. Acute myeloid leukemia SNOMEDCT:17788007 A chromosomal aberration involving ACSL6 may be a cause of acute myelogenous leukemia with eosinophilia. Translocation t(5;12)(q31;p13) with ETV6. Y Y UniProtKB acute myelogenous leukemia with eosinophilia AAP 6/26/2013 124 3300007424 Faith Q9UKU0 23305 ACSL6 Homo sapiens 9606 Comment/Involvement in disease Note=A chromosomal aberration involving ACSL6 may be a cause of acute myelogenous leukemia with eosinophilia. Translocation t(5;12)(q31;p13) with ETV6. eosinophilia DOID:999 A chromosomal aberration involving ACSL6 may be a cause of acute myelogenous leukemia with eosinophilia. Translocation t(5;12)(q31;p13) with ETV6. Y Y UniProtKB acute myelogenous leukemia with eosinophilia AAP 6/26/2013 124 3300007425 Faith Q9UKU0 23305 ACSL6 Homo sapiens 9606 Comment/Sequence caution The sequence BAA74860.1 (EMBL-CDS). Reason: erroneous initiation. Translation N-terminally shortened. Y Y UniProtKB AAP 6/26/2013 124 3300007427 Mike O15120 10555 AGPAT2 Homo sapiens 9606 Comment/Involvement in disease Congenital generalized lipodystrophy 1 (CGL1) [MIM:608594]: An autosomal recessive disorder characterized by a near complete absence of adipose tissue, extreme insulin resistance, hypertriglyceridemia, hepatic steatosis and early onset of diabetes. Note=The disease is caused by mutations affecting the gene represented in this entry. MIM:608594 congenital generalized lipodystrophy DOID:0050585 The disease is caused by mutations affecting the gene represented in this entry. Y Y ECO:0000006 PubMed:11967537 UniProtKB AAP 5/1/2013 122 3300007429 Mike O15120 10555 AGPAT2 Homo sapiens 9606 Comment/pathway Phospholipid metabolism; CDP-diacylglycerol biosynthesis; CDP-diacylglycerol from sn-glycerol 3-phosphate: step 2/3. CDP-diacylglycerol biosynthetic process GO:0016024 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 119 3300007430 Mike O15120 10555 AGPAT2 Homo sapiens 9606 Comment/tissue specificity Expressed predominantly in heart and liver. heart BTO:0000562 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 119 3300007433 Mike O15120 10555 AGPAT2 Homo sapiens 9606 Comment/tissue specificity Expressed predominantly in heart and liver. heart UBERON:0000948 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 119 3300007434 Mike O15120 10555 AGPAT2 Homo sapiens 9606 Comment/tissue specificity Expressed predominantly in heart and liver. liver BTO:0000759 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 119 3300007435 Mike O15120 10555 AGPAT2 Homo sapiens 9606 Comment/tissue specificity Expressed predominantly in heart and liver. liver UBERON:0002107 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 119 3300007436 Mike O15120 10555 AGPAT2 Homo sapiens 9606 EC 2.3.1.51 Y Y ECO:0000311 EC number UniProtKB AAP 1/9/2013 119 3300007437 Katie Q9NRZ5 56895 AGPAT4 Homo sapiens 9606 Comment/pathway Phospholipid metabolism; CDP-diacylglycerol biosynthesis; CDP-diacylglycerol from sn-glycerol 3-phosphate: step 2/3. CDP-diacylglycerol biosynthetic process GO:0016024 UPA00085 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 102 3300007439 Katie Q9NRZ5 56895 AGPAT4 Homo sapiens 9606 Comment/pathway Phospholipid metabolism; CDP-diacylglycerol biosynthesis; CDP-diacylglycerol from sn-glycerol 3-phosphate: step 2/3. phospholipid metabolic process GO:0006644 UPA00085 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 102 3300007440 Katie Q9NRZ5 56895 AGPAT4 Homo sapiens 9606 EC 2.3.1.51 Y Y ECO:0000311 EC number UniProtKB AAP 1/9/2013 102 3300007442 Katie Q9NUQ2 55326 AGPAT5 Homo sapiens 9606 Comment/pathway Phospholipid metabolism; CDP-diacylglycerol biosynthesis; CDP-diacylglycerol from sn-glycerol 3-phosphate: step 2/3. CDP-diacylglycerol biosynthetic process GO:0016024 UPA00085 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 97 3300007445 Katie Q9NUQ2 55326 AGPAT5 Homo sapiens 9606 Comment/pathway Phospholipid metabolism; CDP-diacylglycerol biosynthesis; CDP-diacylglycerol from sn-glycerol 3-phosphate: step 2/3. phospholipid metabolic process GO:0006644 UPA00085 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 97 3300007446 Katie Q9NUQ2 55326 AGPAT5 Homo sapiens 9606 EC 2.3.1.51 Y Y ECO:0000311 EC number UniProtKB AAP 1/9/2013 97 3300007449 Mike P15121 231 AKR1B1 Homo sapiens 9606 Comment/tissue specificity Highly expressed in embryonic epithelial cells (EUE) in response to osmotic stress. EUE cell BTO:0000430 Y Y ECO:0000006 PubMed:8435445 UniProtKB BRENDA term is perfect match to description. AAP, DGA 11/28/2012 157 3300007452 Mike P15121 231 AKR1B1 Homo sapiens 9606 Comment/tissue specificity Highly expressed in embryonic epithelial cells (EUE) in response to osmotic stress. epithelium UBERON:0000483 Y Y ECO:0000006 PubMed:8435445 UniProtKB BRENDA term is perfect match to description. AAP, DGA 11/28/2012 157 3300007453 Mike P15121 231 AKR1B1 Homo sapiens 9606 EC 1.1.1.21 Y Y ECO:0000311 EC number UniProtKB This EC number describes many reactions. AAP, DGA 11/28/2012 157 3300007454 Rose P42330 8644 AKR1C3 Homo sapiens 9606 Comment/function Catalyzes the conversion of aldehydes and ketones to alcohols. Catalyzes the reduction of prostaglandin (PG) D2, PGH2 and phenanthrenequinone (PQ) and the oxidation of 9-alpha,11-beta-PGF2 to PGD2. Functions as a bi-directional 3-alpha-, 17-beta- and 20-alpha HSD. Can interconvert active androgens, estrogens and progestins with their cognate inactive metabolites. Preferentially transforms androstenedione (4-dione) to testosterone. Y Y ECO:0000311 UniProtKB AAP 2/6/2013 142 3300007455 Rose P42330 8644 AKR1C3 Homo sapiens 9606 Comment/tissue specificity Expressed in many tissues including adrenal gland, brain, kidney, liver, lung, mammary gland, placenta, small intestine, colon, spleen, prostate and testis. The dominant HSD in prostate and mammary gland. In the prostate, higher levels in epithelial cells than in stromal cells. In the brain, expressed in medulla, spinal cord, frontotemporal lobes, thalamus, subthalamic nuclei and amygdala. Weaker expression in the hippocampus, substantia nigra and caudate. medulla oblongata BTO:0000041 Y Y ECO:0000006 PubMed:10557352 PubMed:7650035 PubMed:9415401 PubMed:10622721 PubMed:11165022 PubMed:9927279 UniProtKB Need to double-check AAP 2/6/2013 142 3300007458 Rose P42330 8644 AKR1C3 Homo sapiens 9606 Comment/tissue specificity Expressed in many tissues including adrenal gland, brain, kidney, liver, lung, mammary gland, placenta, small intestine, colon, spleen, prostate and testis. The dominant HSD in prostate and mammary gland. In the prostate, higher levels in epithelial cells than in stromal cells. In the brain, expressed in medulla, spinal cord, frontotemporal lobes, thalamus, subthalamic nuclei and amygdala. Weaker expression in the hippocampus, substantia nigra and caudate. medulla oblongata UBERON:0001896 Y Y ECO:0000006 PubMed:10557352 PubMed:7650035 PubMed:9415401 PubMed:10622721 PubMed:11165022 PubMed:9927279 UniProtKB Need to double-check AAP 2/6/2013 142 3300007459 Rose P42330 8644 AKR1C3 Homo sapiens 9606 Comment/tissue specificity Expressed in many tissues including adrenal gland, brain, kidney, liver, lung, mammary gland, placenta, small intestine, colon, spleen, prostate and testis. The dominant HSD in prostate and mammary gland. In the prostate, higher levels in epithelial cells than in stromal cells. In the brain, expressed in medulla, spinal cord, frontotemporal lobes, thalamus, subthalamic nuclei and amygdala. Weaker expression in the hippocampus, substantia nigra and caudate. adrenal gland BTO:0000047 Y Y ECO:0000006 PubMed:10557352 PubMed:7650035 PubMed:9415401 PubMed:10622721 PubMed:11165022 PubMed:9927279 UniProtKB AAP 2/6/2013 142 3300007461 Rose P42330 8644 AKR1C3 Homo sapiens 9606 Comment/tissue specificity Expressed in many tissues including adrenal gland, brain, kidney, liver, lung, mammary gland, placenta, small intestine, colon, spleen, prostate and testis. The dominant HSD in prostate and mammary gland. In the prostate, higher levels in epithelial cells than in stromal cells. In the brain, expressed in medulla, spinal cord, frontotemporal lobes, thalamus, subthalamic nuclei and amygdala. Weaker expression in the hippocampus, substantia nigra and caudate. adrenal gland UBERON:0002369 Y Y ECO:0000006 PubMed:10557352 PubMed:7650035 PubMed:9415401 PubMed:10622721 PubMed:11165022 PubMed:9927279 UniProtKB AAP 2/6/2013 142 3300007462 Rose P42330 8644 AKR1C3 Homo sapiens 9606 Comment/tissue specificity Expressed in many tissues including adrenal gland, brain, kidney, liver, lung, mammary gland, placenta, small intestine, colon, spleen, prostate and testis. The dominant HSD in prostate and mammary gland. In the prostate, higher levels in epithelial cells than in stromal cells. In the brain, expressed in medulla, spinal cord, frontotemporal lobes, thalamus, subthalamic nuclei and amygdala. Weaker expression in the hippocampus, substantia nigra and caudate. amygdala BTO:0001042 Y Y ECO:0000006 PubMed:10557352 PubMed:7650035 PubMed:9415401 PubMed:10622721 PubMed:11165022 PubMed:9927279 UniProtKB AAP 2/6/2013 142 3300007463 Rose P42330 8644 AKR1C3 Homo sapiens 9606 Comment/tissue specificity Expressed in many tissues including adrenal gland, brain, kidney, liver, lung, mammary gland, placenta, small intestine, colon, spleen, prostate and testis. The dominant HSD in prostate and mammary gland. In the prostate, higher levels in epithelial cells than in stromal cells. In the brain, expressed in medulla, spinal cord, frontotemporal lobes, thalamus, subthalamic nuclei and amygdala. Weaker expression in the hippocampus, substantia nigra and caudate. amygdala UBERON:0001876 Y Y ECO:0000006 PubMed:10557352 PubMed:7650035 PubMed:9415401 PubMed:10622721 PubMed:11165022 PubMed:9927279 UniProtKB AAP 2/6/2013 142 3300007464 Rose P42330 8644 AKR1C3 Homo sapiens 9606 Comment/tissue specificity Expressed in many tissues including adrenal gland, brain, kidney, liver, lung, mammary gland, placenta, small intestine, colon, spleen, prostate and testis. The dominant HSD in prostate and mammary gland. In the prostate, higher levels in epithelial cells than in stromal cells. In the brain, expressed in medulla, spinal cord, frontotemporal lobes, thalamus, subthalamic nuclei and amygdala. Weaker expression in the hippocampus, substantia nigra and caudate. brain BTO:0000142 Y Y ECO:0000006 PubMed:10557352 PubMed:7650035 PubMed:9415401 PubMed:10622721 PubMed:11165022 PubMed:9927279 UniProtKB AAP 2/6/2013 142 3300007465 Rose P42330 8644 AKR1C3 Homo sapiens 9606 Comment/tissue specificity Expressed in many tissues including adrenal gland, brain, kidney, liver, lung, mammary gland, placenta, small intestine, colon, spleen, prostate and testis. The dominant HSD in prostate and mammary gland. In the prostate, higher levels in epithelial cells than in stromal cells. In the brain, expressed in medulla, spinal cord, frontotemporal lobes, thalamus, subthalamic nuclei and amygdala. Weaker expression in the hippocampus, substantia nigra and caudate. brain UBERON:0000955 Y Y ECO:0000006 PubMed:10557352 PubMed:7650035 PubMed:9415401 PubMed:10622721 PubMed:11165022 PubMed:9927279 UniProtKB AAP 2/6/2013 142 3300007466 Rose P42330 8644 AKR1C3 Homo sapiens 9606 Comment/tissue specificity Expressed in many tissues including adrenal gland, brain, kidney, liver, lung, mammary gland, placenta, small intestine, colon, spleen, prostate and testis. The dominant HSD in prostate and mammary gland. In the prostate, higher levels in epithelial cells than in stromal cells. In the brain, expressed in medulla, spinal cord, frontotemporal lobes, thalamus, subthalamic nuclei and amygdala. Weaker expression in the hippocampus, substantia nigra and caudate. caudate nucleus BTO:0000211 Y Y ECO:0000006 PubMed:10557352 PubMed:7650035 PubMed:9415401 PubMed:10622721 PubMed:11165022 PubMed:9927279 UniProtKB AAP 2/6/2013 142 3300007467 Rose P42330 8644 AKR1C3 Homo sapiens 9606 Comment/tissue specificity Expressed in many tissues including adrenal gland, brain, kidney, liver, lung, mammary gland, placenta, small intestine, colon, spleen, prostate and testis. The dominant HSD in prostate and mammary gland. In the prostate, higher levels in epithelial cells than in stromal cells. In the brain, expressed in medulla, spinal cord, frontotemporal lobes, thalamus, subthalamic nuclei and amygdala. Weaker expression in the hippocampus, substantia nigra and caudate. caudate nucleus UBERON:0001873 Y Y ECO:0000006 PubMed:10557352 PubMed:7650035 PubMed:9415401 PubMed:10622721 PubMed:11165022 PubMed:9927279 UniProtKB AAP 2/6/2013 142 3300007468 Rose P42330 8644 AKR1C3 Homo sapiens 9606 Comment/tissue specificity Expressed in many tissues including adrenal gland, brain, kidney, liver, lung, mammary gland, placenta, small intestine, colon, spleen, prostate and testis. The dominant HSD in prostate and mammary gland. In the prostate, higher levels in epithelial cells than in stromal cells. In the brain, expressed in medulla, spinal cord, frontotemporal lobes, thalamus, subthalamic nuclei and amygdala. Weaker expression in the hippocampus, substantia nigra and caudate. colon BTO:0000269 Y Y ECO:0000006 PubMed:10557352 PubMed:7650035 PubMed:9415401 PubMed:10622721 PubMed:11165022 PubMed:9927279 UniProtKB AAP 2/6/2013 142 3300007469 Rose P42330 8644 AKR1C3 Homo sapiens 9606 Comment/tissue specificity Expressed in many tissues including adrenal gland, brain, kidney, liver, lung, mammary gland, placenta, small intestine, colon, spleen, prostate and testis. The dominant HSD in prostate and mammary gland. In the prostate, higher levels in epithelial cells than in stromal cells. In the brain, expressed in medulla, spinal cord, frontotemporal lobes, thalamus, subthalamic nuclei and amygdala. Weaker expression in the hippocampus, substantia nigra and caudate. colon UBERON:0001155 Y Y ECO:0000006 PubMed:10557352 PubMed:7650035 PubMed:9415401 PubMed:10622721 PubMed:11165022 PubMed:9927279 UniProtKB AAP 2/6/2013 142 3300007470 Rose P42330 8644 AKR1C3 Homo sapiens 9606 Comment/tissue specificity Expressed in many tissues including adrenal gland, brain, kidney, liver, lung, mammary gland, placenta, small intestine, colon, spleen, prostate and testis. The dominant HSD in prostate and mammary gland. In the prostate, higher levels in epithelial cells than in stromal cells. In the brain, expressed in medulla, spinal cord, frontotemporal lobes, thalamus, subthalamic nuclei and amygdala. Weaker expression in the hippocampus, substantia nigra and caudate. hippocampus BTO:0000601 Y Y ECO:0000006 PubMed:10557352 PubMed:7650035 PubMed:9415401 PubMed:10622721 PubMed:11165022 PubMed:9927279 UniProtKB AAP 2/6/2013 142 3300007471 Rose P42330 8644 AKR1C3 Homo sapiens 9606 Comment/tissue specificity Expressed in many tissues including adrenal gland, brain, kidney, liver, lung, mammary gland, placenta, small intestine, colon, spleen, prostate and testis. The dominant HSD in prostate and mammary gland. In the prostate, higher levels in epithelial cells than in stromal cells. In the brain, expressed in medulla, spinal cord, frontotemporal lobes, thalamus, subthalamic nuclei and amygdala. Weaker expression in the hippocampus, substantia nigra and caudate. hippocampal formation UBERON:0002421 Y Y ECO:0000006 PubMed:10557352 PubMed:7650035 PubMed:9415401 PubMed:10622721 PubMed:11165022 PubMed:9927279 UniProtKB AAP 2/6/2013 142 3300007472 Rose P42330 8644 AKR1C3 Homo sapiens 9606 Comment/tissue specificity Expressed in many tissues including adrenal gland, brain, kidney, liver, lung, mammary gland, placenta, small intestine, colon, spleen, prostate and testis. The dominant HSD in prostate and mammary gland. In the prostate, higher levels in epithelial cells than in stromal cells. In the brain, expressed in medulla, spinal cord, frontotemporal lobes, thalamus, subthalamic nuclei and amygdala. Weaker expression in the hippocampus, substantia nigra and caudate. kidney BTO:0000671 Y Y ECO:0000006 PubMed:10557352 PubMed:7650035 PubMed:9415401 PubMed:10622721 PubMed:11165022 PubMed:9927279 UniProtKB AAP 2/6/2013 142 3300007473 Rose P42330 8644 AKR1C3 Homo sapiens 9606 Comment/tissue specificity Expressed in many tissues including adrenal gland, brain, kidney, liver, lung, mammary gland, placenta, small intestine, colon, spleen, prostate and testis. The dominant HSD in prostate and mammary gland. In the prostate, higher levels in epithelial cells than in stromal cells. In the brain, expressed in medulla, spinal cord, frontotemporal lobes, thalamus, subthalamic nuclei and amygdala. Weaker expression in the hippocampus, substantia nigra and caudate. kidney UBERON:0002113 Y Y ECO:0000006 PubMed:10557352 PubMed:7650035 PubMed:9415401 PubMed:10622721 PubMed:11165022 PubMed:9927279 UniProtKB AAP 2/6/2013 142 3300007474 Rose P42330 8644 AKR1C3 Homo sapiens 9606 Comment/tissue specificity Expressed in many tissues including adrenal gland, brain, kidney, liver, lung, mammary gland, placenta, small intestine, colon, spleen, prostate and testis. The dominant HSD in prostate and mammary gland. In the prostate, higher levels in epithelial cells than in stromal cells. In the brain, expressed in medulla, spinal cord, frontotemporal lobes, thalamus, subthalamic nuclei and amygdala. Weaker expression in the hippocampus, substantia nigra and caudate. liver BTO:0000759 Y Y ECO:0000006 PubMed:10557352 PubMed:7650035 PubMed:9415401 PubMed:10622721 PubMed:11165022 PubMed:9927279 UniProtKB AAP 2/6/2013 142 3300007475 Rose P42330 8644 AKR1C3 Homo sapiens 9606 Comment/tissue specificity Expressed in many tissues including adrenal gland, brain, kidney, liver, lung, mammary gland, placenta, small intestine, colon, spleen, prostate and testis. The dominant HSD in prostate and mammary gland. In the prostate, higher levels in epithelial cells than in stromal cells. In the brain, expressed in medulla, spinal cord, frontotemporal lobes, thalamus, subthalamic nuclei and amygdala. Weaker expression in the hippocampus, substantia nigra and caudate. liver UBERON:0002107 Y Y ECO:0000006 PubMed:10557352 PubMed:7650035 PubMed:9415401 PubMed:10622721 PubMed:11165022 PubMed:9927279 UniProtKB AAP 2/6/2013 142 3300007476 Rose P42330 8644 AKR1C3 Homo sapiens 9606 Comment/tissue specificity Expressed in many tissues including adrenal gland, brain, kidney, liver, lung, mammary gland, placenta, small intestine, colon, spleen, prostate and testis. The dominant HSD in prostate and mammary gland. In the prostate, higher levels in epithelial cells than in stromal cells. In the brain, expressed in medulla, spinal cord, frontotemporal lobes, thalamus, subthalamic nuclei and amygdala. Weaker expression in the hippocampus, substantia nigra and caudate. lung BTO:0000763 Y Y ECO:0000006 PubMed:10557352 PubMed:7650035 PubMed:9415401 PubMed:10622721 PubMed:11165022 PubMed:9927279 UniProtKB AAP 2/6/2013 142 3300007477 Rose P42330 8644 AKR1C3 Homo sapiens 9606 Comment/tissue specificity Expressed in many tissues including adrenal gland, brain, kidney, liver, lung, mammary gland, placenta, small intestine, colon, spleen, prostate and testis. The dominant HSD in prostate and mammary gland. In the prostate, higher levels in epithelial cells than in stromal cells. In the brain, expressed in medulla, spinal cord, frontotemporal lobes, thalamus, subthalamic nuclei and amygdala. Weaker expression in the hippocampus, substantia nigra and caudate. lung UBERON:0002048 Y Y ECO:0000006 PubMed:10557352 PubMed:7650035 PubMed:9415401 PubMed:10622721 PubMed:11165022 PubMed:9927279 UniProtKB AAP 2/6/2013 142 3300007478 Rose P42330 8644 AKR1C3 Homo sapiens 9606 Comment/tissue specificity Expressed in many tissues including adrenal gland, brain, kidney, liver, lung, mammary gland, placenta, small intestine, colon, spleen, prostate and testis. The dominant HSD in prostate and mammary gland. In the prostate, higher levels in epithelial cells than in stromal cells. In the brain, expressed in medulla, spinal cord, frontotemporal lobes, thalamus, subthalamic nuclei and amygdala. Weaker expression in the hippocampus, substantia nigra and caudate. mammary gland BTO:0000817 Y Y ECO:0000006 PubMed:10557352 PubMed:7650035 PubMed:9415401 PubMed:10622721 PubMed:11165022 PubMed:9927279 UniProtKB AAP 2/6/2013 142 3300007479 Rose P42330 8644 AKR1C3 Homo sapiens 9606 Comment/tissue specificity Expressed in many tissues including adrenal gland, brain, kidney, liver, lung, mammary gland, placenta, small intestine, colon, spleen, prostate and testis. The dominant HSD in prostate and mammary gland. In the prostate, higher levels in epithelial cells than in stromal cells. In the brain, expressed in medulla, spinal cord, frontotemporal lobes, thalamus, subthalamic nuclei and amygdala. Weaker expression in the hippocampus, substantia nigra and caudate. mammary gland UBERON:0001911 Y Y ECO:0000006 PubMed:10557352 PubMed:7650035 PubMed:9415401 PubMed:10622721 PubMed:11165022 PubMed:9927279 UniProtKB AAP 2/6/2013 142 3300007480 Rose P42330 8644 AKR1C3 Homo sapiens 9606 Comment/tissue specificity Expressed in many tissues including adrenal gland, brain, kidney, liver, lung, mammary gland, placenta, small intestine, colon, spleen, prostate and testis. The dominant HSD in prostate and mammary gland. In the prostate, higher levels in epithelial cells than in stromal cells. In the brain, expressed in medulla, spinal cord, frontotemporal lobes, thalamus, subthalamic nuclei and amygdala. Weaker expression in the hippocampus, substantia nigra and caudate. placenta BTO:0001078 Y Y ECO:0000006 PubMed:10557352 PubMed:7650035 PubMed:9415401 PubMed:10622721 PubMed:11165022 PubMed:9927279 UniProtKB AAP 2/6/2013 142 3300007481 Rose P42330 8644 AKR1C3 Homo sapiens 9606 Comment/tissue specificity Expressed in many tissues including adrenal gland, brain, kidney, liver, lung, mammary gland, placenta, small intestine, colon, spleen, prostate and testis. The dominant HSD in prostate and mammary gland. In the prostate, higher levels in epithelial cells than in stromal cells. In the brain, expressed in medulla, spinal cord, frontotemporal lobes, thalamus, subthalamic nuclei and amygdala. Weaker expression in the hippocampus, substantia nigra and caudate. placenta UBERON:0001987 Y Y ECO:0000006 PubMed:10557352 PubMed:7650035 PubMed:9415401 PubMed:10622721 PubMed:11165022 PubMed:9927279 UniProtKB AAP 2/6/2013 142 3300007482 Rose P42330 8644 AKR1C3 Homo sapiens 9606 Comment/tissue specificity Expressed in many tissues including adrenal gland, brain, kidney, liver, lung, mammary gland, placenta, small intestine, colon, spleen, prostate and testis. The dominant HSD in prostate and mammary gland. In the prostate, higher levels in epithelial cells than in stromal cells. In the brain, expressed in medulla, spinal cord, frontotemporal lobes, thalamus, subthalamic nuclei and amygdala. Weaker expression in the hippocampus, substantia nigra and caudate. prostate gland BTO:0001129 Y Y ECO:0000006 PubMed:10557352 PubMed:7650035 PubMed:9415401 PubMed:10622721 PubMed:11165022 PubMed:9927279 UniProtKB AAP 2/6/2013 142 3300007483 Rose P42330 8644 AKR1C3 Homo sapiens 9606 Comment/tissue specificity Expressed in many tissues including adrenal gland, brain, kidney, liver, lung, mammary gland, placenta, small intestine, colon, spleen, prostate and testis. The dominant HSD in prostate and mammary gland. In the prostate, higher levels in epithelial cells than in stromal cells. In the brain, expressed in medulla, spinal cord, frontotemporal lobes, thalamus, subthalamic nuclei and amygdala. Weaker expression in the hippocampus, substantia nigra and caudate. prostate gland UBERON:0002367 Y Y ECO:0000006 PubMed:10557352 PubMed:7650035 PubMed:9415401 PubMed:10622721 PubMed:11165022 PubMed:9927279 UniProtKB AAP 2/6/2013 142 3300007484 Rose P42330 8644 AKR1C3 Homo sapiens 9606 Comment/tissue specificity Expressed in many tissues including adrenal gland, brain, kidney, liver, lung, mammary gland, placenta, small intestine, colon, spleen, prostate and testis. The dominant HSD in prostate and mammary gland. In the prostate, higher levels in epithelial cells than in stromal cells. In the brain, expressed in medulla, spinal cord, frontotemporal lobes, thalamus, subthalamic nuclei and amygdala. Weaker expression in the hippocampus, substantia nigra and caudate. prostate gland epithelium BTO:0002397 Y Y ECO:0000006 PubMed:10557352 PubMed:7650035 PubMed:9415401 PubMed:10622721 PubMed:11165022 PubMed:9927279 UniProtKB AAP 2/6/2013 142 3300007485 Rose P42330 8644 AKR1C3 Homo sapiens 9606 Comment/tissue specificity Expressed in many tissues including adrenal gland, brain, kidney, liver, lung, mammary gland, placenta, small intestine, colon, spleen, prostate and testis. The dominant HSD in prostate and mammary gland. In the prostate, higher levels in epithelial cells than in stromal cells. In the brain, expressed in medulla, spinal cord, frontotemporal lobes, thalamus, subthalamic nuclei and amygdala. Weaker expression in the hippocampus, substantia nigra and caudate. prostate epithelium UBERON:0000428 Y Y ECO:0000006 PubMed:10557352 PubMed:7650035 PubMed:9415401 PubMed:10622721 PubMed:11165022 PubMed:9927279 UniProtKB AAP 2/6/2013 142 3300007486 Rose P42330 8644 AKR1C3 Homo sapiens 9606 Comment/tissue specificity Expressed in many tissues including adrenal gland, brain, kidney, liver, lung, mammary gland, placenta, small intestine, colon, spleen, prostate and testis. The dominant HSD in prostate and mammary gland. In the prostate, higher levels in epithelial cells than in stromal cells. In the brain, expressed in medulla, spinal cord, frontotemporal lobes, thalamus, subthalamic nuclei and amygdala. Weaker expression in the hippocampus, substantia nigra and caudate. small intestine BTO:0000651 Y Y ECO:0000006 PubMed:10557352 PubMed:7650035 PubMed:9415401 PubMed:10622721 PubMed:11165022 PubMed:9927279 UniProtKB AAP 2/6/2013 142 3300007487 Rose P42330 8644 AKR1C3 Homo sapiens 9606 Comment/tissue specificity Expressed in many tissues including adrenal gland, brain, kidney, liver, lung, mammary gland, placenta, small intestine, colon, spleen, prostate and testis. The dominant HSD in prostate and mammary gland. In the prostate, higher levels in epithelial cells than in stromal cells. In the brain, expressed in medulla, spinal cord, frontotemporal lobes, thalamus, subthalamic nuclei and amygdala. Weaker expression in the hippocampus, substantia nigra and caudate. small intestine UBERON:0002108 Y Y ECO:0000006 PubMed:10557352 PubMed:7650035 PubMed:9415401 PubMed:10622721 PubMed:11165022 PubMed:9927279 UniProtKB AAP 2/6/2013 142 3300007488 Rose P42330 8644 AKR1C3 Homo sapiens 9606 Comment/tissue specificity Expressed in many tissues including adrenal gland, brain, kidney, liver, lung, mammary gland, placenta, small intestine, colon, spleen, prostate and testis. The dominant HSD in prostate and mammary gland. In the prostate, higher levels in epithelial cells than in stromal cells. In the brain, expressed in medulla, spinal cord, frontotemporal lobes, thalamus, subthalamic nuclei and amygdala. Weaker expression in the hippocampus, substantia nigra and caudate. spinal cord BTO:0001279 Y Y ECO:0000006 PubMed:10557352 PubMed:7650035 PubMed:9415401 PubMed:10622721 PubMed:11165022 PubMed:9927279 UniProtKB AAP 2/6/2013 142 3300007489 Rose P42330 8644 AKR1C3 Homo sapiens 9606 Comment/tissue specificity Expressed in many tissues including adrenal gland, brain, kidney, liver, lung, mammary gland, placenta, small intestine, colon, spleen, prostate and testis. The dominant HSD in prostate and mammary gland. In the prostate, higher levels in epithelial cells than in stromal cells. In the brain, expressed in medulla, spinal cord, frontotemporal lobes, thalamus, subthalamic nuclei and amygdala. Weaker expression in the hippocampus, substantia nigra and caudate. spinal cord UBERON:0002240 Y Y ECO:0000006 PubMed:10557352 PubMed:7650035 PubMed:9415401 PubMed:10622721 PubMed:11165022 PubMed:9927279 UniProtKB AAP 2/6/2013 142 3300007490 Rose P42330 8644 AKR1C3 Homo sapiens 9606 Comment/tissue specificity Expressed in many tissues including adrenal gland, brain, kidney, liver, lung, mammary gland, placenta, small intestine, colon, spleen, prostate and testis. The dominant HSD in prostate and mammary gland. In the prostate, higher levels in epithelial cells than in stromal cells. In the brain, expressed in medulla, spinal cord, frontotemporal lobes, thalamus, subthalamic nuclei and amygdala. Weaker expression in the hippocampus, substantia nigra and caudate. spleen BTO:0001281 Y Y ECO:0000006 PubMed:10557352 PubMed:7650035 PubMed:9415401 PubMed:10622721 PubMed:11165022 PubMed:9927279 UniProtKB AAP 2/6/2013 142 3300007491 Rose P42330 8644 AKR1C3 Homo sapiens 9606 Comment/tissue specificity Expressed in many tissues including adrenal gland, brain, kidney, liver, lung, mammary gland, placenta, small intestine, colon, spleen, prostate and testis. The dominant HSD in prostate and mammary gland. In the prostate, higher levels in epithelial cells than in stromal cells. In the brain, expressed in medulla, spinal cord, frontotemporal lobes, thalamus, subthalamic nuclei and amygdala. Weaker expression in the hippocampus, substantia nigra and caudate. spleen UBERON:0002106 Y Y ECO:0000006 PubMed:10557352 PubMed:7650035 PubMed:9415401 PubMed:10622721 PubMed:11165022 PubMed:9927279 UniProtKB AAP 2/6/2013 142 3300007492 Rose P42330 8644 AKR1C3 Homo sapiens 9606 Comment/tissue specificity Expressed in many tissues including adrenal gland, brain, kidney, liver, lung, mammary gland, placenta, small intestine, colon, spleen, prostate and testis. The dominant HSD in prostate and mammary gland. In the prostate, higher levels in epithelial cells than in stromal cells. In the brain, expressed in medulla, spinal cord, frontotemporal lobes, thalamus, subthalamic nuclei and amygdala. Weaker expression in the hippocampus, substantia nigra and caudate. substantia nigra BTO:0000143 Y Y ECO:0000006 PubMed:10557352 PubMed:7650035 PubMed:9415401 PubMed:10622721 PubMed:11165022 PubMed:9927279 UniProtKB AAP 2/6/2013 142 3300007493 Rose P42330 8644 AKR1C3 Homo sapiens 9606 Comment/tissue specificity Expressed in many tissues including adrenal gland, brain, kidney, liver, lung, mammary gland, placenta, small intestine, colon, spleen, prostate and testis. The dominant HSD in prostate and mammary gland. In the prostate, higher levels in epithelial cells than in stromal cells. In the brain, expressed in medulla, spinal cord, frontotemporal lobes, thalamus, subthalamic nuclei and amygdala. Weaker expression in the hippocampus, substantia nigra and caudate. substantia nigra UBERON:0002038 Y Y ECO:0000006 PubMed:10557352 PubMed:7650035 PubMed:9415401 PubMed:10622721 PubMed:11165022 PubMed:9927279 UniProtKB AAP 2/6/2013 142 3300007494 Rose P42330 8644 AKR1C3 Homo sapiens 9606 Comment/tissue specificity Expressed in many tissues including adrenal gland, brain, kidney, liver, lung, mammary gland, placenta, small intestine, colon, spleen, prostate and testis. The dominant HSD in prostate and mammary gland. In the prostate, higher levels in epithelial cells than in stromal cells. In the brain, expressed in medulla, spinal cord, frontotemporal lobes, thalamus, subthalamic nuclei and amygdala. Weaker expression in the hippocampus, substantia nigra and caudate. temporal lobe BTO:0001355 Y Y ECO:0000006 PubMed:10557352 PubMed:7650035 PubMed:9415401 PubMed:10622721 PubMed:11165022 PubMed:9927279 UniProtKB AAP 2/6/2013 142 3300007495 Rose P42330 8644 AKR1C3 Homo sapiens 9606 Comment/tissue specificity Expressed in many tissues including adrenal gland, brain, kidney, liver, lung, mammary gland, placenta, small intestine, colon, spleen, prostate and testis. The dominant HSD in prostate and mammary gland. In the prostate, higher levels in epithelial cells than in stromal cells. In the brain, expressed in medulla, spinal cord, frontotemporal lobes, thalamus, subthalamic nuclei and amygdala. Weaker expression in the hippocampus, substantia nigra and caudate. temporal lobe UBERON:0001871 Y Y ECO:0000006 PubMed:10557352 PubMed:7650035 PubMed:9415401 PubMed:10622721 PubMed:11165022 PubMed:9927279 UniProtKB AAP 2/6/2013 142 3300007496 Rose P42330 8644 AKR1C3 Homo sapiens 9606 Comment/tissue specificity Expressed in many tissues including adrenal gland, brain, kidney, liver, lung, mammary gland, placenta, small intestine, colon, spleen, prostate and testis. The dominant HSD in prostate and mammary gland. In the prostate, higher levels in epithelial cells than in stromal cells. In the brain, expressed in medulla, spinal cord, frontotemporal lobes, thalamus, subthalamic nuclei and amygdala. Weaker expression in the hippocampus, substantia nigra and caudate. testis BTO:0001363 Y Y ECO:0000006 PubMed:10557352 PubMed:7650035 PubMed:9415401 PubMed:10622721 PubMed:11165022 PubMed:9927279 UniProtKB AAP 2/6/2013 142 3300007497 Rose P42330 8644 AKR1C3 Homo sapiens 9606 Comment/tissue specificity Expressed in many tissues including adrenal gland, brain, kidney, liver, lung, mammary gland, placenta, small intestine, colon, spleen, prostate and testis. The dominant HSD in prostate and mammary gland. In the prostate, higher levels in epithelial cells than in stromal cells. In the brain, expressed in medulla, spinal cord, frontotemporal lobes, thalamus, subthalamic nuclei and amygdala. Weaker expression in the hippocampus, substantia nigra and caudate. testis UBERON:0000473 Y Y ECO:0000006 PubMed:10557352 PubMed:7650035 PubMed:9415401 PubMed:10622721 PubMed:11165022 PubMed:9927279 UniProtKB AAP 2/6/2013 142 3300007498 Rose P42330 8644 AKR1C3 Homo sapiens 9606 Comment/tissue specificity Expressed in many tissues including adrenal gland, brain, kidney, liver, lung, mammary gland, placenta, small intestine, colon, spleen, prostate and testis. The dominant HSD in prostate and mammary gland. In the prostate, higher levels in epithelial cells than in stromal cells. In the brain, expressed in medulla, spinal cord, frontotemporal lobes, thalamus, subthalamic nuclei and amygdala. Weaker expression in the hippocampus, substantia nigra and caudate. thalamic nucleus BTO:0002452 Y Y ECO:0000006 PubMed:10557352 PubMed:7650035 PubMed:9415401 PubMed:10622721 PubMed:11165022 PubMed:9927279 UniProtKB AAP 2/6/2013 142 3300007499 Rose P42330 8644 AKR1C3 Homo sapiens 9606 Comment/tissue specificity Expressed in many tissues including adrenal gland, brain, kidney, liver, lung, mammary gland, placenta, small intestine, colon, spleen, prostate and testis. The dominant HSD in prostate and mammary gland. In the prostate, higher levels in epithelial cells than in stromal cells. In the brain, expressed in medulla, spinal cord, frontotemporal lobes, thalamus, subthalamic nuclei and amygdala. Weaker expression in the hippocampus, substantia nigra and caudate. nucleus of thalamus UBERON:0007692 Y Y ECO:0000006 PubMed:10557352 PubMed:7650035 PubMed:9415401 PubMed:10622721 PubMed:11165022 PubMed:9927279 UniProtKB AAP 2/6/2013 142 3300007500 Rose P42330 8644 AKR1C3 Homo sapiens 9606 Comment/tissue specificity Expressed in many tissues including adrenal gland, brain, kidney, liver, lung, mammary gland, placenta, small intestine, colon, spleen, prostate and testis. The dominant HSD in prostate and mammary gland. In the prostate, higher levels in epithelial cells than in stromal cells. In the brain, expressed in medulla, spinal cord, frontotemporal lobes, thalamus, subthalamic nuclei and amygdala. Weaker expression in the hippocampus, substantia nigra and caudate. thalamus BTO:0001365 Y Y ECO:0000006 PubMed:10557352 PubMed:7650035 PubMed:9415401 PubMed:10622721 PubMed:11165022 PubMed:9927279 UniProtKB AAP 2/6/2013 142 3300007501 Rose P42330 8644 AKR1C3 Homo sapiens 9606 Comment/tissue specificity Expressed in many tissues including adrenal gland, brain, kidney, liver, lung, mammary gland, placenta, small intestine, colon, spleen, prostate and testis. The dominant HSD in prostate and mammary gland. In the prostate, higher levels in epithelial cells than in stromal cells. In the brain, expressed in medulla, spinal cord, frontotemporal lobes, thalamus, subthalamic nuclei and amygdala. Weaker expression in the hippocampus, substantia nigra and caudate. dorsal plus ventral thalamus UBERON:0001897 Y Y ECO:0000006 PubMed:10557352 PubMed:7650035 PubMed:9415401 PubMed:10622721 PubMed:11165022 PubMed:9927279 UniProtKB AAP 2/6/2013 142 3300007502 Rose P42330 8644 AKR1C3 Homo sapiens 9606 EC 1.-.-.- Y Y ECO:0000311 EC number UniProtKB AAP 2/6/2013 142 3300007503 Rose P18054 239 ALOX12 Homo sapiens 9606 Comment/subcellular location Cytoplasm cytoplasm GO:0005737 SL-0086 Y Y ECO:0000311 UniProtKB GO has ""cytosol"" AAP, DGA 1/9/2013 143 3300007506 Rose P18054 239 ALOX12 Homo sapiens 9606 EC 1.13.11.31 Y Y ECO:0000311 EC number UniProtKB AAP, DGA 1/9/2013 143 3300007507 Mike O75342 242 ALOX12B Homo sapiens 9606 Comment/tissue specificity Expressed in B-cells, hair follicles, foreskin keratinocytes and adult skin. Also expressed in psoriatic tissue. B-lymphocyte BTO:0000776 B cell CL:0000236 Y Y ECO:0000006 PubMed:9618483 UniProtKB AAP 11/28/2012 116 3300007508 Mike O75342 242 ALOX12B Homo sapiens 9606 Comment/tissue specificity Expressed in B-cells, hair follicles, foreskin keratinocytes and adult skin. Also expressed in psoriatic tissue. prepuce BTO:0001113 keratinocyte CL:0000312 Y Y ECO:0000006 PubMed:9618483 UniProtKB AAP 11/28/2012 116 3300007509 Mike O75342 242 ALOX12B Homo sapiens 9606 Comment/tissue specificity Expressed in B-cells, hair follicles, foreskin keratinocytes and adult skin. Also expressed in psoriatic tissue. skin of prepuce of penis UBERON:0001471 keratinocyte CL:0000312 Y Y ECO:0000006 PubMed:9618483 UniProtKB AAP 11/28/2012 116 3300007510 Mike O75342 242 ALOX12B Homo sapiens 9606 Comment/function Converts arachidonic acid to 12R-hydroperoxyeicosatetraenoic acid (12R-HPETE). arachidonic acid metabolic process GO:0019369 Y Y ECO:0000006 PubMed:9618483 UniProtKB can't find GO MF or EC code for the R enentiomer AAP 11/28/2012 116 3300007511 Mike O75342 242 ALOX12B Homo sapiens 9606 Comment/Involvement in disease Erythroderma, ichthyosiform, congenital non-bullous (NCIE) [MIM:242100]: A non-bullous ichthyosis, a skin disorder characterized by abnormal cornification of the epidermis. Most affected individuals are born with a tight, shiny, translucent covering called collodion membrane. The collodion membrane subsequently evolves into generalized scaling and intense redness of the skin. Clinical features are milder than in lamellar ichthyoses and demonstrate a greater variability in the intensity of erythema, size and type of scales. In contrast to lamellar ichthyoses, scales are usually white, fine and powdery, and palms and soles are severely affected. Patients suffer from palmoplantar keratoderma, often with painful fissures, digital contractures, and loss of pulp volume. Note=The disease is caused by mutations affecting the gene represented in this entry. MIM:242100 congenital ichthyosiform erythroderma DOID:1699 The disease is caused by mutations affecting the gene represented in this entry. Y Y ECO:0000006 PubMed:11773004 UniProtKB AAP 5/1/2013 119 3300007512 Mike/Faith O75342 242 ALOX12B Homo sapiens 9606 Comment/tissue specificity Expressed in B-cells, hair follicles, foreskin keratinocytes and adult skin. Also expressed in psoriatic tissue. skin BTO:0001253 psoriasis DOID:8893 Y Y ECO:0000006 PubMed:9618483 UniProtKB AAP 11/28/2012 116 3300007514 Mike/Faith O75342 242 ALOX12B Homo sapiens 9606 Comment/tissue specificity Expressed in B-cells, hair follicles, foreskin keratinocytes and adult skin. Also expressed in psoriatic tissue. skin of body UBERON:0002097 psoriasis DOID:8893 Y Y ECO:0000006 PubMed:9618483 UniProtKB AAP 11/28/2012 116 3300007515 Mike O75342 242 ALOX12B Homo sapiens 9606 Comment/tissue specificity Expressed in B-cells, hair follicles, foreskin keratinocytes and adult skin. Also expressed in psoriatic tissue. hair follicle BTO:0000554 Y Y ECO:0000006 PubMed:9618483 UniProtKB AAP 11/28/2012 116 3300007516 Mike O75342 242 ALOX12B Homo sapiens 9606 Comment/tissue specificity Expressed in B-cells, hair follicles, foreskin keratinocytes and adult skin. Also expressed in psoriatic tissue. hair follicle UBERON:0002073 Y Y ECO:0000006 PubMed:9618483 UniProtKB AAP 11/28/2012 116 3300007517 Mike O75342 242 ALOX12B Homo sapiens 9606 Comment/tissue specificity Expressed in B-cells, hair follicles, foreskin keratinocytes and adult skin. Also expressed in psoriatic tissue. skin BTO:0001253 Y Y ECO:0000006 PubMed:9618483 UniProtKB AAP 11/28/2012 116 3300007518 Mike O75342 242 ALOX12B Homo sapiens 9606 Comment/tissue specificity Expressed in B-cells, hair follicles, foreskin keratinocytes and adult skin. Also expressed in psoriatic tissue. skin of body UBERON:0002097 Y Y ECO:0000006 PubMed:9618483 UniProtKB AAP 11/28/2012 116 3300007519 Mike O75342 242 ALOX12B Homo sapiens 9606 EC 1.13.11.- Y Y ECO:0000311 EC number UniProtKB Note: 1.13.11.31 refers to the S-enantiomer. AAP 11/28/2012 116 3300007520 Mike P16050 246 ALOX15 Homo sapiens 9606 EC 1.13.11.33 Y Y ECO:0000311 EC number UniProtKB AAP, DGA 11/28/2012 139 3300007524 Mike O15296 247 ALOX15B Homo sapiens 9606 Comment/subcellular location Cytoplasm cytoplasm GO:0005737 SL-0086 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 125 3300007528 Mike O15296 247 ALOX15B Homo sapiens 9606 Comment/tissue specificity Expressed in hair, prostate, lung and cornea. cornea BTO:0000286 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 125 3300007529 Mike O15296 247 ALOX15B Homo sapiens 9606 Comment/tissue specificity Expressed in hair, prostate, lung and cornea. cornea UBERON:0000964 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 125 3300007530 Mike O15296 247 ALOX15B Homo sapiens 9606 Comment/tissue specificity Expressed in hair, prostate, lung and cornea. hair BTO:0001501 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 125 3300007531 Mike O15296 247 ALOX15B Homo sapiens 9606 Comment/tissue specificity Expressed in hair, prostate, lung and cornea. strand of hair UBERON:0001037 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 125 3300007532 Mike O15296 247 ALOX15B Homo sapiens 9606 Comment/tissue specificity Expressed in hair, prostate, lung and cornea. lung BTO:0000763 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 125 3300007533 Mike O15296 247 ALOX15B Homo sapiens 9606 Comment/tissue specificity Expressed in hair, prostate, lung and cornea. lung UBERON:0002048 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 125 3300007534 Mike O15296 247 ALOX15B Homo sapiens 9606 Comment/tissue specificity Expressed in hair, prostate, lung and cornea. prostate gland BTO:0001129 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 125 3300007535 Mike O15296 247 ALOX15B Homo sapiens 9606 Comment/tissue specificity Expressed in hair, prostate, lung and cornea. prostate gland UBERON:0002367 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 125 3300007536 Mike O15296 247 ALOX15B Homo sapiens 9606 EC 1.13.11.33 Y Y ECO:0000311 EC number UniProtKB AAP 11/28/2012 125 3300007537 Mike P09917 240 ALOX5 Homo sapiens 9606 Comment/function Catalyzes the first step in leukotriene biosynthesis, and thereby plays a role in inflammatory processes. inflammatory response GO:0006954 Y Y ECO:0000006 PubMed:21233389 UniProtKB AAP, DGA 11/28/2012 143 3300007538 Mike P09917 240 ALOX5 Homo sapiens 9606 Comment/function Catalyzes the first step in leukotriene biosynthesis, and thereby plays a role in inflammatory processes. leukotriene A4 biosynthetic process GO:1901753 Y Y ECO:0000006 PubMed:21233389 UniProtKB AAP, DGA 11/28/2012 143 3300007539 Mike P09917 240 ALOX5 Homo sapiens 9606 Comment/subcellular location Nucleus membrane;Peripheral membrane protein nuclear membrane GO:0031965 SL-0182 Y Y ECO:0000311 UniProtKB AAP, DGA 11/28/2012 143 3300007543 Mike P09917 240 ALOX5 Homo sapiens 9606 EC 1.13.11.34 Y Y ECO:0000311 EC number UniProtKB EC number specifies synthesis of leukotriene A4 from Arachidonic acid AAP, DGA 11/28/2012 143 3300007545 Rose P20292 241 ALOX5AP Homo sapiens 9606 Comment/Involvement in disease Ischemic stroke (ISCHSTR) [MIM:601367]: A stroke is an acute neurologic event leading to death of neural tissue of the brain and resulting in loss of motor, sensory and/or cognitive function. Ischemic strokes, resulting from vascular occlusion, is considered to be a highly complex disease consisting of a group of heterogeneous disorders with multiple genetic and environmental risk factors. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. MIM:601367 cerebrovascular accident DOID:3455 Disease susceptibility is associated with variations affecting the gene represented in this entry. Y Y ECO:0000006 PubMed:14770184 UniProtKB AAP, DGA 5/1/2013 116 3300007547 Rose P20292 241 ALOX5AP Homo sapiens 9606 Comment/Involvement in disease Note=Genetic variations in ALOX5AP may be associated with susceptibility to myocardial infarction. Involvement in myocardial infarction is however unclear: according to some authors (PubMed:14770184), a 4-SNP haplotype in ALOX5AP confers risk of myocardial infarction, while according to other (PubMed:17304054) ALOX5AP is not implicated in this condition. myocardial infarction DOID:5844 Genetic variations in ALOX5AP may be associated with susceptibility to myocardial infarction. Involvement in myocardial infarction is however unclear: according to some authors (PubMed:14770184), a 4-SNP haplotype in ALOX5AP confers risk of myocardial infarction, while according to other (PubMed:17304054) ALOX5AP is not implicated in this condition. Y Y ECO:0000311 UniProtKB AAP, DGA 5/1/2013 116 3300007548 Rose P20292 241 ALOX5AP Homo sapiens 9606 Comment/subcellular location Endoplasmic reticulum membrane;Multi-pass membrane protein endoplasmic reticulum membrane GO:0005789 SL-0097 Y Y ECO:0000311 UniProtKB AAP, DGA 11/28/2012 113 3300007549 Katie Q9BYJ1 59344 ALOXE3 Homo sapiens 9606 Comment/Involvement in disease Erythroderma, ichthyosiform, congenital non-bullous (NCIE) [MIM:242100]: A non-bullous ichthyosis, a skin disorder characterized by abnormal cornification of the epidermis. Most affected individuals are born with a tight, shiny, translucent covering called collodion membrane. The collodion membrane subsequently evolves into generalized scaling and intense redness of the skin. Clinical features are milder than in lamellar ichthyoses and demonstrate a greater variability in the intensity of erythema, size and type of scales. In contrast to lamellar ichthyoses, scales are usually white, fine and powdery, and palms and soles are severely affected. Patients suffer from palmoplantar keratoderma, often with painful fissures, digital contractures, and loss of pulp volume. Note=The disease is caused by mutations affecting the gene represented in this entry. MIM:242100 congenital ichthyosiform erythroderma DOID:1699 The disease is caused by mutations affecting the gene represented in this entry. Y Y ECO:0000006 PubMed:11773004 UniProtKB AAP 5/1/2013 107 3300007552 Katie Q9BYJ1 59344 ALOXE3 Homo sapiens 9606 Comment/Involvement in disease Erythroderma, ichthyosiform, congenital non-bullous (NCIE) [MIM:242100]: A non-bullous ichthyosis, a skin disorder characterized by abnormal cornification of the epidermis. Most affected individuals are born with a tight, shiny, translucent covering called collodion membrane. The collodion membrane subsequently evolves into generalized scaling and intense redness of the skin. Clinical features are milder than in lamellar ichthyoses and demonstrate a greater variability in the intensity of erythema, size and type of scales. In contrast to lamellar ichthyoses, scales are usually white, fine and powdery, and palms and soles are severely affected. Patients suffer from palmoplantar keratoderma, often with painful fissures, digital contractures, and loss of pulp volume. Note=The disease is caused by mutations affecting the gene represented in this entry. MIM:242100 Congenital ichthyosiform erythroderma SNOMEDCT:254156001 The disease is caused by mutations affecting the gene represented in this entry. Y Y ECO:0000006 PubMed:11773004 UniProtKB AAP 5/1/2013 107 3300007553 Katie Q9BYJ1 59344 ALOXE3 Homo sapiens 9606 Comment/tissue specificity Predominantly expressed in skin. skin BTO:0001253 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 104 3300007555 Katie Q9BYJ1 59344 ALOXE3 Homo sapiens 9606 Comment/tissue specificity Predominantly expressed in skin. skin of body UBERON:0002097 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 104 3300007556 Katie Q9BYJ1 59344 ALOXE3 Homo sapiens 9606 EC 1.13.11.- Y Y ECO:0000311 EC number UniProtKB AAP 11/28/2012 104 3300007557 Faith Q6E213 158835 AWAT2 Homo sapiens 9606 Comment/function Acyltransferase that predominantly esterify long chain (wax) alcohols with acyl-CoA-derived fatty acids to produce wax esters. Wax esters are enriched in sebum, suggesting that it plays a central role in lipid metabolism in skin. Has no activity using decyl alcohol and significantly prefers the C16 and C18 alcohols. May also have 2-acylglycerol O-acyltransferase (MGAT) and acyl-CoA:retinol acyltransferase (ARAT) activities, to catalyze the synthesis of diacylglycerols and retinyl esters; however this activity is unclear in vivo. Y Y ECO:0000006 PubMed:15220349 PubMed:15671038 PubMed:16106050 UniProtKB AAP 10/31/2012 72 3300007558 Faith Q6E213 158835 AWAT2 Homo sapiens 9606 Comment/subcellular location Endoplasmic reticulum membrane;Multi-pass membrane protein endoplasmic reticulum membrane GO:0005789 SL-0097 Y Y ECO:0000311 UniProtKB AAP 10/31/2012 72 3300007559 Faith Q6E213 158835 AWAT2 Homo sapiens 9606 Comment/tissue specificity adipose tissue BTO:0001487 Y Y ECO:0000006 PubMed:16106050 PENTACON Added from publication AAP 4/21/2014 3 3300007560 Faith Q6E213 158835 AWAT2 Homo sapiens 9606 Comment/tissue specificity adipose tissue UBERON:0001013 Y Y ECO:0000006 PubMed:16106050 PENTACON Added from publication AAP 4/21/2014 3 3300007561 Faith Q6E213 158835 AWAT2 Homo sapiens 9606 Comment/tissue specificity Abundant in tissues rich in sebaceous glands such as the preputial gland and eyelid. Highly expressed in skin, where it is primarily restricted to undifferentiated peripheral sebocytes. Also expressed at lower level in other tissues except pancreas. skin BTO:0001253 Y Y ECO:0000006 PubMed:15220349 PubMed:16106050 UniProtKB highly expressed AAP 10/31/2012 72 3300007562 Faith Q6E213 158835 AWAT2 Homo sapiens 9606 Comment/tissue specificity Abundant in tissues rich in sebaceous glands such as the preputial gland and eyelid. Highly expressed in skin, where it is primarily restricted to undifferentiated peripheral sebocytes. Also expressed at lower level in other tissues except pancreas. epidermis UBERON:0001003 Y Y ECO:0000006 PubMed:15220349 PubMed:16106050 UniProtKB highly expressed AAP 10/31/2012 72 3300007563 Faith Q6E213 158835 AWAT2 Homo sapiens 9606 Comment/tissue specificity Abundant in tissues rich in sebaceous glands such as the preputial gland and eyelid. Highly expressed in skin, where it is primarily restricted to undifferentiated peripheral sebocytes. Also expressed at lower level in other tissues except pancreas. sebocyte BTO:0004613 Y Y ECO:0000006 PubMed:15220349 PubMed:15671038 PubMed:16106050 UniProtKB I could not find undifferentiated peripheral sebocyte. http://www.karger.com/Article/Fulltext/17860 suggests that there are three types of sebocytes. I could not find a descriptive term in CL. AAP 10/31/2012 72 3300007564 Faith Q6E213 158835 AWAT2 Homo sapiens 9606 Comment/tissue specificity Abundant in tissues rich in sebaceous glands such as the preputial gland and eyelid. Highly expressed in skin, where it is primarily restricted to undifferentiated peripheral sebocytes. Also expressed at lower level in other tissues except pancreas. sebaceous gland BTO:0001980 Y Y ECO:0000006 PubMed:15220349 PubMed:15671038 PubMed:16106050 UniProtKB replace with sebaceous gland? AAP 10/31/2012 72 3300007565 Faith Q6E213 158835 AWAT2 Homo sapiens 9606 Comment/tissue specificity Abundant in tissues rich in sebaceous glands such as the preputial gland and eyelid. Highly expressed in skin, where it is primarily restricted to undifferentiated peripheral sebocytes. Also expressed at lower level in other tissues except pancreas. sebaceous gland UBERON:0001821 Y Y ECO:0000006 PubMed:15220349 PubMed:15671038 PubMed:16106050 UniProtKB replace with sebaceous gland? AAP 10/31/2012 72 3300007566 Faith/Rose Q6E213 158835 AWAT2 Homo sapiens 9606 Comment/tissue specificity Abundant in tissues rich in sebaceous glands such as the preputial gland and eyelid. Highly expressed in skin, where it is primarily restricted to undifferentiated peripheral sebocytes. Also expressed at lower level in other tissues except pancreas. eyelid BTO:0002241 Y Y ECO:0000006 PubMed:15220349 PubMed:15671038 PubMed:16106050 UniProtKB this was in mice AAP 10/31/2012 72 3300007567 Faith/Rose Q6E213 158835 AWAT2 Homo sapiens 9606 Comment/tissue specificity Abundant in tissues rich in sebaceous glands such as the preputial gland and eyelid. Highly expressed in skin, where it is primarily restricted to undifferentiated peripheral sebocytes. Also expressed at lower level in other tissues except pancreas. eyelid UBERON:0001711 Y Y ECO:0000006 PubMed:15220349 PubMed:15671038 PubMed:16106050 UniProtKB this was in mice AAP 10/31/2012 72 3300007568 Faith/Rose Q6E213 158835 AWAT2 Homo sapiens 9606 Comment/tissue specificity Abundant in tissues rich in sebaceous glands such as the preputial gland and eyelid. Highly expressed in skin, where it is primarily restricted to undifferentiated peripheral sebocytes. Also expressed at lower level in other tissues except pancreas. preputial gland BTO:0001111 Y Y ECO:0000006 PubMed:15220349 PubMed:15671038 PubMed:16106050 UniProtKB this was in mice AAP 10/31/2012 72 3300007569 Faith/Rose Q6E213 158835 AWAT2 Homo sapiens 9606 Comment/tissue specificity Abundant in tissues rich in sebaceous glands such as the preputial gland and eyelid. Highly expressed in skin, where it is primarily restricted to undifferentiated peripheral sebocytes. Also expressed at lower level in other tissues except pancreas. preputial gland UBERON:0000359 Y Y ECO:0000006 PubMed:15220349 PubMed:15671038 PubMed:16106050 UniProtKB this was in mice AAP 10/31/2012 72 3300007570 Faith Q6E213 158835 AWAT2 Homo sapiens 9606 Comment/tissue specificity brain BTO:0000142 Y Y ECO:0000006 PubMed:15671038 PubMed:16106050 PENTACON AAP 4/21/2014 3 3300007572 Faith Q6E213 158835 AWAT2 Homo sapiens 9606 Comment/tissue specificity brain UBERON:0000955 Y Y ECO:0000006 PubMed:15671038 PubMed:16106050 PENTACON AAP 4/21/2014 3 3300007573 Faith Q6E213 158835 AWAT2 Homo sapiens 9606 Comment/tissue specificity colon BTO:0000269 Y Y ECO:0000006 PubMed:15671038 PENTACON AAP 4/21/2014 3 3300007574 Faith Q6E213 158835 AWAT2 Homo sapiens 9606 Comment/tissue specificity colon UBERON:0001155 Y Y ECO:0000006 PubMed:15671038 PENTACON AAP 4/21/2014 3 3300007575 Faith Q6E213 158835 AWAT2 Homo sapiens 9606 Comment/tissue specificity heart BTO:0000562 Y Y ECO:0000006 PubMed:15671038 PENTACON AAP 4/21/2014 3 3300007576 Faith Q6E213 158835 AWAT2 Homo sapiens 9606 Comment/tissue specificity heart UBERON:0000948 Y Y ECO:0000006 PubMed:15671038 PENTACON AAP 4/21/2014 3 3300007577 Faith Q6E213 158835 AWAT2 Homo sapiens 9606 Comment/tissue specificity kidney BTO:0000671 Y Y ECO:0000006 PubMed:15671038 PENTACON AAP 4/21/2014 3 3300007578 Faith Q6E213 158835 AWAT2 Homo sapiens 9606 Comment/tissue specificity kidney UBERON:0002113 Y Y ECO:0000006 PubMed:15671038 PENTACON AAP 4/21/2014 3 3300007579 Faith Q6E213 158835 AWAT2 Homo sapiens 9606 Comment/tissue specificity liver BTO:0000759 Y Y ECO:0000006 PubMed:15671038 PubMed:16106050 PENTACON AAP 4/21/2014 3 3300007580 Faith Q6E213 158835 AWAT2 Homo sapiens 9606 Comment/tissue specificity liver UBERON:0002107 Y Y ECO:0000006 PubMed:15671038 PubMed:16106050 PENTACON AAP 4/21/2014 3 3300007581 Faith Q6E213 158835 AWAT2 Homo sapiens 9606 Comment/tissue specificity lung BTO:0000763 Y Y ECO:0000006 PubMed:15671038 PubMed:16106050 PENTACON AAP 4/21/2014 3 3300007582 Faith Q6E213 158835 AWAT2 Homo sapiens 9606 Comment/tissue specificity lung UBERON:0002048 Y Y ECO:0000006 PubMed:15671038 PubMed:16106050 PENTACON AAP 4/21/2014 3 3300007583 Faith Q6E213 158835 AWAT2 Homo sapiens 9606 Comment/tissue specificity ovary BTO:0000975 Y Y ECO:0000006 PubMed:15671038 PENTACON AAP 4/21/2014 3 3300007584 Faith Q6E213 158835 AWAT2 Homo sapiens 9606 Comment/tissue specificity female gonad UBERON:0000992 Y Y ECO:0000006 PubMed:15671038 PENTACON AAP 4/21/2014 3 3300007585 Faith Q6E213 158835 AWAT2 Homo sapiens 9606 Comment/tissue specificity pancreas BTO:0000988 Y Y ECO:0000006 PubMed:15671038 PubMed:16106050 PENTACON AAP 4/21/2014 3 3300007586 Faith Q6E213 158835 AWAT2 Homo sapiens 9606 Comment/tissue specificity pancreas UBERON:0001264 Y Y ECO:0000006 PubMed:15671038 PubMed:16106050 PENTACON AAP 4/21/2014 3 3300007587 Faith Q6E213 158835 AWAT2 Homo sapiens 9606 Comment/tissue specificity prostate gland BTO:0001129 Y Y ECO:0000006 PubMed:15671038 PENTACON AAP 4/21/2014 3 3300007588 Faith Q6E213 158835 AWAT2 Homo sapiens 9606 Comment/tissue specificity prostate gland UBERON:0002367 Y Y ECO:0000006 PubMed:15671038 PENTACON AAP 4/21/2014 3 3300007589 Faith Q6E213 158835 AWAT2 Homo sapiens 9606 Comment/tissue specificity small intestine BTO:0000651 Y Y ECO:0000006 PubMed:15671038 PENTACON AAP 4/21/2014 3 3300007590 Faith Q6E213 158835 AWAT2 Homo sapiens 9606 Comment/tissue specificity small intestine UBERON:0002108 Y Y ECO:0000006 PubMed:15671038 PENTACON AAP 4/21/2014 3 3300007591 Faith Q6E213 158835 AWAT2 Homo sapiens 9606 Comment/tissue specificity spleen BTO:0001281 Y Y ECO:0000006 PubMed:15671038 PENTACON AAP 4/21/2014 3 3300007592 Faith Q6E213 158835 AWAT2 Homo sapiens 9606 Comment/tissue specificity spleen UBERON:0002106 Y Y ECO:0000006 PubMed:15671038 PENTACON AAP 4/21/2014 3 3300007593 Faith Q6E213 158835 AWAT2 Homo sapiens 9606 Comment/tissue specificity testis BTO:0001363 Y Y ECO:0000006 PubMed:15671038 PubMed:16106050 PENTACON AAP 4/21/2014 3 3300007594 Faith Q6E213 158835 AWAT2 Homo sapiens 9606 Comment/tissue specificity testis UBERON:0000473 Y Y ECO:0000006 PubMed:15671038 PubMed:16106050 PENTACON AAP 4/21/2014 3 3300007595 Faith Q6E213 158835 AWAT2 Homo sapiens 9606 Comment/tissue specificity thymus BTO:0001374 Y Y ECO:0000006 PubMed:15671038 PENTACON AAP 4/21/2014 3 3300007596 Faith Q6E213 158835 AWAT2 Homo sapiens 9606 Comment/tissue specificity thymus UBERON:0002370 Y Y ECO:0000006 PubMed:15671038 PENTACON AAP 4/21/2014 3 3300007597 Faith Q6E213 158835 AWAT2 Homo sapiens 9606 EC 2.3.1.75 Y Y ECO:0000311 EC number UniProtKB AAP 10/31/2012 72 3300007598 Faith Q14032 570 BAAT Homo sapiens 9606 EC 2.3.1.65 Y Y EC number UniProtKB AAP 5/1/2013 102 3300007599 Faith Q14032 570 BAAT Homo sapiens 9606 Comment/tissue specificity Expressed in liver, gallbladder mucosa and pancreas. liver BTO:0000759 Y Y ECO:0000006 PubMed:2037576 PubMed:12810727 UniProtKB AAP 5/1/2013 102 3300007603 Faith Q14032 570 BAAT Homo sapiens 9606 Comment/tissue specificity Expressed in liver, gallbladder mucosa and pancreas. liver UBERON:0002107 Y Y ECO:0000006 PubMed:2037576 PubMed:12810727 UniProtKB AAP 5/1/2013 102 3300007604 Faith Q14032 570 BAAT Homo sapiens 9606 Comment/tissue specificity Expressed in liver, gallbladder mucosa and pancreas. mucosa of gallbladder UBERON:0005033 Y Y ECO:0000006 PubMed:2037576 PubMed:12810727 UniProtKB BRENDA has gall bladder and mucosa, but not this term. AAP 5/1/2013 102 3300007605 Faith Q14032 570 BAAT Homo sapiens 9606 Comment/tissue specificity Expressed in liver, gallbladder mucosa and pancreas. pancreas BTO:0000988 Y Y ECO:0000006 PubMed:2037576 PubMed:12810727 UniProtKB AAP 5/1/2013 102 3300007606 Faith Q14032 570 BAAT Homo sapiens 9606 Comment/tissue specificity Expressed in liver, gallbladder mucosa and pancreas. pancreas UBERON:0001264 Y Y ECO:0000006 PubMed:2037576 PubMed:12810727 UniProtKB AAP 5/1/2013 102 3300007607 Faith Q14032 570 BAAT Homo sapiens 9606 Comment/Involvement in disease Familial hypercholanemia (FHCA) [MIM:607748]: A disorder characterized by elevated serum bile acid concentrations, itching, and fat malabsorption. Note=The disease may be caused by mutations affecting distinct genetic loci, including the gene represented in this entry. MIM:607748 The disease may be caused by mutations affecting distinct genetic loci, including the gene represented in this entry. Y Y ECO:0000006 PubMed:12704386 UniProtKB AAP 5/1/2013 102 3300007608 Mike P16152 873 CBR1 Homo sapiens 9606 Comment/function NADPH-dependent reductase with broad substrate specificity. Catalyzes the reduction of a wide variety of carbonyl compounds including quinones, prostaglandins, menadione, plus various xenobiotics. Catalyzes the reduction of the antitumor anthracyclines doxorubicin and daunorubicin to the cardiotoxic compounds doxorubicinol and daunorubicinol. Can convert prostaglandin E2 to prostaglandin F2-alpha. Can bind glutathione, which explains its higher affinity for glutathione-conjugated substrates. Catalyzes the reduction of S-nitrosoglutathione. prostaglandin metabolic process GO:0006693 Y Y ECO:0000006 PubMed:18449627 PubMed:15799708 PubMed:17912391 PubMed:18826943 UniProtKB AAP 11/28/2012 147 3300007609 Mike P16152 873 CBR1 Homo sapiens 9606 Comment/subcellular location Cytoplasm cytoplasm GO:0005737 SL-0086 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 147 3300007610 Mike P16152 873 CBR1 Homo sapiens 9606 EC 1.1.1.184 Y Y ECO:0000311 EC number UniProtKB This EC number refers to a wide range of substrates. AAP 11/28/2012 147 3300007611 Mike P16152 873 CBR1 Homo sapiens 9606 EC 1.1.1.197 Y Y ECO:0000311 EC number UniProtKB AAP 11/28/2012 147 3300007612 Mike P16152 873 CBR1 Homo sapiens 9606 EC 1.1.1.189 Y Y ECO:0000311 EC number UniProtKB AAP 11/28/2012 147 3300007613 Mike O75828 874 CBR3 Homo sapiens 9606 Comment/tissue specificity Detected in ovary, pancreas, intestine, colon, kidney, brain, thymus, lung, heart, liver, spleen, leukocyte, prostate and testis. leukocyte BTO:0000751 leukocyte CL:0000738 Y Y ECO:0000006 PubMed:18493841 UniProtKB AAP 11/28/2012 115 3300007614 Mike O75828 874 CBR3 Homo sapiens 9606 Comment/tissue specificity Detected in ovary, pancreas, intestine, colon, kidney, brain, thymus, lung, heart, liver, spleen, leukocyte, prostate and testis. brain BTO:0000142 Y Y ECO:0000006 PubMed:18493841 UniProtKB AAP 11/28/2012 115 3300007617 Mike O75828 874 CBR3 Homo sapiens 9606 Comment/tissue specificity Detected in ovary, pancreas, intestine, colon, kidney, brain, thymus, lung, heart, liver, spleen, leukocyte, prostate and testis. brain UBERON:0000955 Y Y ECO:0000006 PubMed:18493841 UniProtKB AAP 11/28/2012 115 3300007618 Mike O75828 874 CBR3 Homo sapiens 9606 Comment/tissue specificity Detected in ovary, pancreas, intestine, colon, kidney, brain, thymus, lung, heart, liver, spleen, leukocyte, prostate and testis. colon BTO:0000269 Y Y ECO:0000006 PubMed:18493841 UniProtKB AAP 11/28/2012 115 3300007619 Mike O75828 874 CBR3 Homo sapiens 9606 Comment/tissue specificity Detected in ovary, pancreas, intestine, colon, kidney, brain, thymus, lung, heart, liver, spleen, leukocyte, prostate and testis. colon UBERON:0001155 Y Y ECO:0000006 PubMed:18493841 UniProtKB AAP 11/28/2012 115 3300007620 Mike O75828 874 CBR3 Homo sapiens 9606 Comment/tissue specificity Detected in ovary, pancreas, intestine, colon, kidney, brain, thymus, lung, heart, liver, spleen, leukocyte, prostate and testis. heart BTO:0000562 Y Y ECO:0000006 PubMed:18493841 UniProtKB AAP 11/28/2012 115 3300007621 Mike O75828 874 CBR3 Homo sapiens 9606 Comment/tissue specificity Detected in ovary, pancreas, intestine, colon, kidney, brain, thymus, lung, heart, liver, spleen, leukocyte, prostate and testis. heart UBERON:0000948 Y Y ECO:0000006 PubMed:18493841 UniProtKB AAP 11/28/2012 115 3300007622 Mike O75828 874 CBR3 Homo sapiens 9606 Comment/tissue specificity Detected in ovary, pancreas, intestine, colon, kidney, brain, thymus, lung, heart, liver, spleen, leukocyte, prostate and testis. intestine BTO:0000648 Y Y ECO:0000006 PubMed:18493841 UniProtKB AAP 11/28/2012 115 3300007623 Mike O75828 874 CBR3 Homo sapiens 9606 Comment/tissue specificity Detected in ovary, pancreas, intestine, colon, kidney, brain, thymus, lung, heart, liver, spleen, leukocyte, prostate and testis. intestine UBERON:0000160 Y Y ECO:0000006 PubMed:18493841 UniProtKB AAP 11/28/2012 115 3300007624 Mike O75828 874 CBR3 Homo sapiens 9606 Comment/tissue specificity Detected in ovary, pancreas, intestine, colon, kidney, brain, thymus, lung, heart, liver, spleen, leukocyte, prostate and testis. kidney BTO:0000671 Y Y ECO:0000006 PubMed:18493841 UniProtKB AAP 11/28/2012 115 3300007625 Mike O75828 874 CBR3 Homo sapiens 9606 Comment/tissue specificity Detected in ovary, pancreas, intestine, colon, kidney, brain, thymus, lung, heart, liver, spleen, leukocyte, prostate and testis. kidney UBERON:0002113 Y Y ECO:0000006 PubMed:18493841 UniProtKB AAP 11/28/2012 115 3300007626 Mike O75828 874 CBR3 Homo sapiens 9606 Comment/tissue specificity Detected in ovary, pancreas, intestine, colon, kidney, brain, thymus, lung, heart, liver, spleen, leukocyte, prostate and testis. liver BTO:0000759 Y Y ECO:0000006 PubMed:18493841 UniProtKB AAP 11/28/2012 115 3300007627 Mike O75828 874 CBR3 Homo sapiens 9606 Comment/tissue specificity Detected in ovary, pancreas, intestine, colon, kidney, brain, thymus, lung, heart, liver, spleen, leukocyte, prostate and testis. liver UBERON:0002107 Y Y ECO:0000006 PubMed:18493841 UniProtKB AAP 11/28/2012 115 3300007628 Mike O75828 874 CBR3 Homo sapiens 9606 Comment/tissue specificity Detected in ovary, pancreas, intestine, colon, kidney, brain, thymus, lung, heart, liver, spleen, leukocyte, prostate and testis. lung BTO:0000763 Y Y ECO:0000006 PubMed:18493841 UniProtKB AAP 11/28/2012 115 3300007629 Mike O75828 874 CBR3 Homo sapiens 9606 Comment/tissue specificity Detected in ovary, pancreas, intestine, colon, kidney, brain, thymus, lung, heart, liver, spleen, leukocyte, prostate and testis. lung UBERON:0002048 Y Y ECO:0000006 PubMed:18493841 UniProtKB AAP 11/28/2012 115 3300007630 Mike O75828 874 CBR3 Homo sapiens 9606 Comment/tissue specificity Detected in ovary, pancreas, intestine, colon, kidney, brain, thymus, lung, heart, liver, spleen, leukocyte, prostate and testis. ovary BTO:0000975 Y Y ECO:0000006 PubMed:18493841 UniProtKB AAP 11/28/2012 115 3300007631 Mike O75828 874 CBR3 Homo sapiens 9606 Comment/tissue specificity Detected in ovary, pancreas, intestine, colon, kidney, brain, thymus, lung, heart, liver, spleen, leukocyte, prostate and testis. female gonad UBERON:0000992 Y Y ECO:0000006 PubMed:18493841 UniProtKB AAP 11/28/2012 115 3300007632 Mike O75828 874 CBR3 Homo sapiens 9606 Comment/tissue specificity Detected in ovary, pancreas, intestine, colon, kidney, brain, thymus, lung, heart, liver, spleen, leukocyte, prostate and testis. pancreas BTO:0000988 Y Y ECO:0000006 PubMed:18493841 UniProtKB AAP 11/28/2012 115 3300007633 Mike O75828 874 CBR3 Homo sapiens 9606 Comment/tissue specificity Detected in ovary, pancreas, intestine, colon, kidney, brain, thymus, lung, heart, liver, spleen, leukocyte, prostate and testis. pancreas UBERON:0001264 Y Y ECO:0000006 PubMed:18493841 UniProtKB AAP 11/28/2012 115 3300007634 Mike O75828 874 CBR3 Homo sapiens 9606 Comment/tissue specificity Detected in ovary, pancreas, intestine, colon, kidney, brain, thymus, lung, heart, liver, spleen, leukocyte, prostate and testis. prostate gland BTO:0001129 Y Y ECO:0000006 PubMed:18493841 UniProtKB AAP 11/28/2012 115 3300007635 Mike O75828 874 CBR3 Homo sapiens 9606 Comment/tissue specificity Detected in ovary, pancreas, intestine, colon, kidney, brain, thymus, lung, heart, liver, spleen, leukocyte, prostate and testis. prostate gland UBERON:0002367 Y Y ECO:0000006 PubMed:18493841 UniProtKB AAP 11/28/2012 115 3300007636 Mike O75828 874 CBR3 Homo sapiens 9606 Comment/tissue specificity Detected in ovary, pancreas, intestine, colon, kidney, brain, thymus, lung, heart, liver, spleen, leukocyte, prostate and testis. spleen BTO:0001281 Y Y ECO:0000006 PubMed:18493841 UniProtKB AAP 11/28/2012 115 3300007637 Mike O75828 874 CBR3 Homo sapiens 9606 Comment/tissue specificity Detected in ovary, pancreas, intestine, colon, kidney, brain, thymus, lung, heart, liver, spleen, leukocyte, prostate and testis. spleen UBERON:0002106 Y Y ECO:0000006 PubMed:18493841 UniProtKB AAP 11/28/2012 115 3300007638 Mike O75828 874 CBR3 Homo sapiens 9606 Comment/tissue specificity Detected in ovary, pancreas, intestine, colon, kidney, brain, thymus, lung, heart, liver, spleen, leukocyte, prostate and testis. testis BTO:0001363 Y Y ECO:0000006 PubMed:18493841 UniProtKB AAP 11/28/2012 115 3300007639 Mike O75828 874 CBR3 Homo sapiens 9606 Comment/tissue specificity Detected in ovary, pancreas, intestine, colon, kidney, brain, thymus, lung, heart, liver, spleen, leukocyte, prostate and testis. testis UBERON:0000473 Y Y ECO:0000006 PubMed:18493841 UniProtKB AAP 11/28/2012 115 3300007640 Mike O75828 874 CBR3 Homo sapiens 9606 Comment/tissue specificity Detected in ovary, pancreas, intestine, colon, kidney, brain, thymus, lung, heart, liver, spleen, leukocyte, prostate and testis. thymus BTO:0001374 Y Y ECO:0000006 PubMed:18493841 UniProtKB AAP 11/28/2012 115 3300007641 Mike O75828 874 CBR3 Homo sapiens 9606 Comment/tissue specificity Detected in ovary, pancreas, intestine, colon, kidney, brain, thymus, lung, heart, liver, spleen, leukocyte, prostate and testis. thymus UBERON:0002370 Y Y ECO:0000006 PubMed:18493841 UniProtKB AAP 11/28/2012 115 3300007642 Mike O75828 874 CBR3 Homo sapiens 9606 EC 1.1.1.184 Y Y ECO:0000311 EC number UniProtKB This EC code applies to a broad range of reactions. AAP 11/28/2012 115 3300007643 Katie P04798 1543 CYP1A1 Homo sapiens 9606 Comment/function Cytochromes P450 are a group of heme-thiolate monooxygenases. In liver microsomes, this enzyme is involved in an NADPH-dependent electron transport pathway. It oxidizes a variety of structurally unrelated compounds, including steroids, fatty acids, and xenobiotics. liver BTO:0000759 Y Y ECO:0000311 UniProtKB AAP, DGA 1/9/2013 152 3300007644 Katie P04798 1543 CYP1A1 Homo sapiens 9606 Comment/function Cytochromes P450 are a group of heme-thiolate monooxygenases. In liver microsomes, this enzyme is involved in an NADPH-dependent electron transport pathway. It oxidizes a variety of structurally unrelated compounds, including steroids, fatty acids, and xenobiotics. liver UBERON:0002107 Y Y ECO:0000311 UniProtKB AAP, DGA 1/9/2013 152 3300007645 Katie P04798 1543 CYP1A1 Homo sapiens 9606 Comment/subcellular location Endoplasmic reticulum membrane;Peripheral membrane protein endoplasmic reticulum membrane GO:0005789 SL-0097 Y Y ECO:0000311 UniProtKB AAP, DGA 1/9/2013 152 3300007647 Katie/Rose P04798 1543 CYP1A1 Homo sapiens 9606 Comment/subcellular location Microsome membrane;Peripheral membrane protein intracellular membrane-bounded organelle GO:0043231 SL-0165 Y Y ECO:0000311 UniProtKB AAP, DGA 1/9/2013 152 3300007648 Katie P04798 1543 CYP1A1 Homo sapiens 9606 Comment/tissue specificity Lung, lymphocytes and placenta. lymphocyte BTO:0000775 Y Y ECO:0000311 UniProtKB No Uberon term AAP, DGA 1/9/2013 152 3300007649 Katie P04798 1543 CYP1A1 Homo sapiens 9606 Comment/tissue specificity Lung, lymphocytes and placenta. lung BTO:0000763 Y Y ECO:0000311 UniProtKB AAP, DGA 1/9/2013 152 3300007650 Katie P04798 1543 CYP1A1 Homo sapiens 9606 Comment/tissue specificity Lung, lymphocytes and placenta. lung UBERON:0002048 Y Y ECO:0000311 UniProtKB AAP, DGA 1/9/2013 152 3300007651 Katie P04798 1543 CYP1A1 Homo sapiens 9606 Comment/tissue specificity Lung, lymphocytes and placenta. placenta BTO:0001078 Y Y ECO:0000311 UniProtKB AAP, DGA 1/9/2013 152 3300007652 Katie P04798 1543 CYP1A1 Homo sapiens 9606 Comment/tissue specificity Lung, lymphocytes and placenta. placenta UBERON:0001987 Y Y ECO:0000311 UniProtKB AAP, DGA 1/9/2013 152 3300007653 Katie P04798 1543 CYP1A1 Homo sapiens 9606 EC 1.14.14.1 Y Y ECO:0000311 EC number UniProtKB AAP, DGA 1/9/2013 152 3300007654 Mike P05177 1544 CYP1A2 Homo sapiens 9606 Comment/function Cytochromes P450 are a group of heme-thiolate monooxygenases. In liver microsomes, this enzyme is involved in an NADPH-dependent electron transport pathway. It oxidizes a variety of structurally unrelated compounds, including steroids, fatty acids, and xenobiotics. Most active in catalyzing 2-hydroxylation. Caffeine is metabolized primarily by cytochrome CYP1A2 in the liver through an initial N3-demethylation. Also acts in the metabolism of aflatoxin B1 and acetaminophen. Participates in the bioactivation of carcinogenic aromatic and heterocyclic amines. Catalizes the N-hydroxylation of heterocyclic amines and the O-deethylation of phenacetin. aflatoxin B1 metabolic process GO:0043390 Y Y ECO:0000006 PubMed:14725854 UniProtKB AAP, DGA 11/28/2012 140 3300007655 Mike P05177 1544 CYP1A2 Homo sapiens 9606 Comment/function Cytochromes P450 are a group of heme-thiolate monooxygenases. In liver microsomes, this enzyme is involved in an NADPH-dependent electron transport pathway. It oxidizes a variety of structurally unrelated compounds, including steroids, fatty acids, and xenobiotics. Most active in catalyzing 2-hydroxylation. Caffeine is metabolized primarily by cytochrome CYP1A2 in the liver through an initial N3-demethylation. Also acts in the metabolism of aflatoxin B1 and acetaminophen. Participates in the bioactivation of carcinogenic aromatic and heterocyclic amines. Catalizes the N-hydroxylation of heterocyclic amines and the O-deethylation of phenacetin. fatty acid metabolic process GO:0006631 Y Y ECO:0000006 PubMed:14725854 UniProtKB AAP, DGA 11/28/2012 140 3300007657 Mike P05177 1544 CYP1A2 Homo sapiens 9606 Comment/function Cytochromes P450 are a group of heme-thiolate monooxygenases. In liver microsomes, this enzyme is involved in an NADPH-dependent electron transport pathway. It oxidizes a variety of structurally unrelated compounds, including steroids, fatty acids, and xenobiotics. Most active in catalyzing 2-hydroxylation. Caffeine is metabolized primarily by cytochrome CYP1A2 in the liver through an initial N3-demethylation. Also acts in the metabolism of aflatoxin B1 and acetaminophen. Participates in the bioactivation of carcinogenic aromatic and heterocyclic amines. Catalizes the N-hydroxylation of heterocyclic amines and the O-deethylation of phenacetin. xenobiotic metabolic process GO:0006805 Y Y ECO:0000006 PubMed:14725854 UniProtKB AAP, DGA 11/28/2012 140 3300007658 Mike P05177 1544 CYP1A2 Homo sapiens 9606 Comment/subcellular location Endoplasmic reticulum membrane;Peripheral membrane protein extrinsic component of endoplasmic reticulum membrane GO:0042406 SL-0097 Y Y ECO:0000311 UniProtKB AAP, DGA 11/28/2012 140 3300007660 Mike P05177 1544 CYP1A2 Homo sapiens 9606 Comment/tissue specificity Liver. liver BTO:0000759 Y Y ECO:0000311 UniProtKB AAP, DGA 11/28/2012 140 3300007662 Mike P05177 1544 CYP1A2 Homo sapiens 9606 Comment/tissue specificity Liver. liver UBERON:0002107 Y Y ECO:0000311 UniProtKB AAP, DGA 11/28/2012 140 3300007663 Mike P05177 1544 CYP1A2 Homo sapiens 9606 EC 1.14.14.1 Y Y ECO:0000311 EC number UniProtKB This EC code covers many different reactions. AAP, DGA 11/28/2012 140 3300007664 Katie/Rose Q16678 1545 CYP1B1 Homo sapiens 9606 Comment/Involvement in disease Peters anomaly (PAN) [MIM:604229]: Consists of a central corneal leukoma, absence of the posterior corneal stroma and Descemet membrane, and a variable degree of iris and lenticular attachments to the central aspect of the posterior cornea. Note=The disease is caused by mutations affecting the gene represented in this entry. MIM:604229 eye disease DOID:5614 The disease is caused by mutations affecting the gene represented in this entry. Y Y ECO:0000311 UniProtKB No HDO term, except more gener ""eye disease"" AAP 5/1/2013 151 3300007665 Katie/Rose Q16678 1545 CYP1B1 Homo sapiens 9606 Comment/Involvement in disease Peters anomaly (PAN) [MIM:604229]: Consists of a central corneal leukoma, absence of the posterior corneal stroma and Descemet membrane, and a variable degree of iris and lenticular attachments to the central aspect of the posterior cornea. Note=The disease is caused by mutations affecting the gene represented in this entry. MIM:604229 Irido-corneo-trabecular dysgenesis SNOMEDCT:204153003 The disease is caused by mutations affecting the gene represented in this entry. Y Y ECO:0000311 UniProtKB No HDO term, except more gener ""eye disease"" AAP 5/1/2013 151 3300007666 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Comment/function Cytochromes P450 are a group of heme-thiolate monooxygenases. In liver microsomes, this enzyme is involved in an NADPH-dependent electron transport pathway. It oxidizes a variety of structurally unrelated compounds, including steroids, fatty acids, and xenobiotics. liver BTO:0000759 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 148 3300007667 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Comment/function Cytochromes P450 are a group of heme-thiolate monooxygenases. In liver microsomes, this enzyme is involved in an NADPH-dependent electron transport pathway. It oxidizes a variety of structurally unrelated compounds, including steroids, fatty acids, and xenobiotics. liver UBERON:0002107 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 148 3300007668 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Comment/Involvement in disease Primary congenital glaucoma 3A (GLC3A) [MIM:231300]: An autosomal recessive form of primary congenital glaucoma (PCG). PCG is characterized by marked increase of intraocular pressure at birth or early childhood, large ocular globes (buphthalmos) and corneal edema. It results from developmental defects of the trabecular meshwork and anterior chamber angle of the eye that prevent adequate drainage of aqueous humor. Note=The disease is caused by mutations affecting distinct genetic loci, including the gene represented in this entry. MIM:231300 primary congenital glaucoma DOID:0050593 The disease is caused by mutations affecting distinct genetic loci, including the gene represented in this entry. Y Y ECO:0000006 PubMed:9463332 PubMed:9497261 PubMed:10227395 PubMed:10655546 PubMed:11184479 PubMed:11527932 PubMed:11774072 PubMed:11980847 PubMed:12036985 PubMed:14640115 PubMed:14635112 PubMed:12525557 PubMed:15342693 PubMed:15475877 PubMed:15255109 PubMed:16490498 PubMed:16735994 PubMed:18470941 UniProtKB AAP 5/1/2013 151 3300007673 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Comment/Involvement in disease Primary congenital glaucoma 3A (GLC3A) [MIM:231300]: An autosomal recessive form of primary congenital glaucoma (PCG). PCG is characterized by marked increase of intraocular pressure at birth or early childhood, large ocular globes (buphthalmos) and corneal edema. It results from developmental defects of the trabecular meshwork and anterior chamber angle of the eye that prevent adequate drainage of aqueous humor. Note=The disease is caused by mutations affecting distinct genetic loci, including the gene represented in this entry. MIM:231300 Congenital glaucoma SNOMEDCT:392371002 The disease is caused by mutations affecting distinct genetic loci, including the gene represented in this entry. Y Y ECO:0000006 PubMed:9463332 PubMed:9497261 PubMed:10227395 PubMed:10655546 PubMed:11184479 PubMed:11527932 PubMed:11774072 PubMed:11980847 PubMed:12036985 PubMed:14640115 PubMed:14635112 PubMed:12525557 PubMed:15342693 PubMed:15475877 PubMed:15255109 PubMed:16490498 PubMed:16735994 PubMed:18470941 UniProtKB AAP 5/1/2013 151 3300007674 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Comment/Involvement in disease Primary open angle glaucoma (POAG) [MIM:137760]: A complex and genetically heterogeneous ocular disorder characterized by a specific pattern of optic nerve and visual field defects. The angle of the anterior chamber of the eye is open, and usually the intraocular pressure is increased. The disease is asymptomatic until the late stages, by which time significant and irreversible optic nerve damage has already taken place. In some cases, POAG shows digenic inheritance involving mutations in CYP1B1 and MYOC genes. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. CYP1B1 mutations have been reported to pose a significant risk for early-onset POAG and also modify glaucoma phenotype in patients who do not carry a MYOC mutation (PubMed:15342693). MIM:137760 primary open angle glaucoma DOID:1070 Disease susceptibility is associated with variations affecting the gene represented in this entry. CYP1B1 mutations have been reported to pose a significant risk for early-onset POAG and also modify glaucoma phenotype in patients who do not carry a MYOC mutation (PubMed:15342693). Y Y ECO:0000006 PubMed:11774072 PubMed:15342693 PubMed:18470941 PubMed:16688110 PubMed:16862072 UniProtKB ICD:365.11 AAP 5/1/2013 151 3300007675 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Comment/subcellular location Endoplasmic reticulum membrane;Peripheral membrane protein endoplasmic reticulum membrane GO:0005789 SL-0097 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 148 3300007677 Katie/Rose Q16678 1545 CYP1B1 Homo sapiens 9606 Comment/subcellular location Microsome membrane;Peripheral membrane protein intracellular membrane-bounded organelle GO:0043231 SL-0165 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 148 3300007678 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 EC 1.14.14.1 Y Y ECO:0000311 EC number UniProtKB AAP 11/28/2012 148 3300007680 Rose Q16678 1545 CYP1B1 Homo sapiens 9606 Comment/Involvement in disease Primary open angle glaucoma 1A (GLC1A) [MIM:137750]: A form of primary open angle glaucoma (POAG). POAG is characterized by a specific pattern of optic nerve and visual field defects. The angle of the anterior chamber of the eye is open, and usually the intraocular pressure is increased. The disease is asymptomatic until the late stages, by which time significant and irreversible optic nerve damage has already taken place. Note=The gene represented in this entry acts as a disease modifier. Digenic mutations in CYP1B1 and MYOC have been found in a family segregating both primary adult-onset and juvenile forms of open angle glaucoma (PubMed:11774072). All affected family members with mutations in both MYOC and CYP1B1 had juvenile glaucoma, whereas those with only the MYOC mutation had the adult-onset form (PubMed:11774072). MIM:137750 open-angle glaucoma DOID:1067 The gene represented in this entry acts as a disease modifier. Digenic mutations in CYP1B1 and MYOC have been found in a family segregating both primary adult-onset and juvenile forms of open angle glaucoma (PubMed:11774072). All affected family members with mutations in both MYOC and CYP1B1 had juvenile glaucoma, whereas those with only the MYOC mutation had the adult-onset form (PubMed:11774072). Y Y ECO:0000006 PubMed:11774072 UniProtKB AAP 5/1/2013 151 3300007681 Rose P20813 1555 CYP2B6 Homo sapiens 9606 Comment/function Cytochromes P450 are a group of heme-thiolate monooxygenases. In liver microsomes, this enzyme is involved in an NADPH-dependent electron transport pathway. It oxidizes a variety of structurally unrelated compounds, including steroids, fatty acids, and xenobiotics. Acts as a 1,4-cineole 2-exo-monooxygenase. liver BTO:0000759 Y Y ECO:0000006 PubMed:11695850 UniProtKB Tissue info not necessariy linked to PMID source. AAP 11/28/2012 143 3300007682 Rose P20813 1555 CYP2B6 Homo sapiens 9606 Comment/function Cytochromes P450 are a group of heme-thiolate monooxygenases. In liver microsomes, this enzyme is involved in an NADPH-dependent electron transport pathway. It oxidizes a variety of structurally unrelated compounds, including steroids, fatty acids, and xenobiotics. Acts as a 1,4-cineole 2-exo-monooxygenase. liver UBERON:0002107 Y Y ECO:0000006 PubMed:11695850 UniProtKB Tissue info not necessariy linked to PMID source. AAP 11/28/2012 143 3300007683 Rose P20813 1555 CYP2B6 Homo sapiens 9606 Comment/subcellular location Endoplasmic reticulum membrane;Peripheral membrane protein endoplasmic reticulum membrane GO:0005789 SL-0097 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 143 3300007686 Rose P20813 1555 CYP2B6 Homo sapiens 9606 Comment/subcellular location Microsome membrane;Peripheral membrane protein intracellular membrane-bounded organelle GO:0043231 SL-0165 Y Y ECO:0000311 UniProtKB Microsome obsolete GO term AAP 11/28/2012 143 3300007687 Rose P20813 1555 CYP2B6 Homo sapiens 9606 Comment/tissue specificity Expressed in liver, lung and heart right ventricle. liver BTO:0000759 Y Y ECO:0000006 PubMed:10768437 UniProtKB AAP 11/28/2012 143 3300007688 Rose P20813 1555 CYP2B6 Homo sapiens 9606 Comment/tissue specificity Expressed in liver, lung and heart right ventricle. liver UBERON:0002107 Y Y ECO:0000006 PubMed:10768437 UniProtKB AAP 11/28/2012 143 3300007689 Rose P20813 1555 CYP2B6 Homo sapiens 9606 Comment/tissue specificity Expressed in liver, lung and heart right ventricle. lung BTO:0000763 Y Y ECO:0000006 PubMed:10768437 UniProtKB AAP 11/28/2012 143 3300007690 Rose P20813 1555 CYP2B6 Homo sapiens 9606 Comment/tissue specificity Expressed in liver, lung and heart right ventricle. lung UBERON:0002048 Y Y ECO:0000006 PubMed:10768437 UniProtKB AAP 11/28/2012 143 3300007691 Rose P20813 1555 CYP2B6 Homo sapiens 9606 Comment/tissue specificity Expressed in liver, lung and heart right ventricle. right ventricle BTO:0001630 Y Y ECO:0000006 PubMed:10768437 UniProtKB AAP 11/28/2012 143 3300007692 Rose P20813 1555 CYP2B6 Homo sapiens 9606 Comment/tissue specificity Expressed in liver, lung and heart right ventricle. heart right ventricle UBERON:0002080 Y Y ECO:0000006 PubMed:10768437 UniProtKB AAP 11/28/2012 143 3300007693 Rose P20813 1555 CYP2B6 Homo sapiens 9606 EC 1.14.13.- Y Y ECO:0000311 EC number UniProtKB AAP 11/28/2012 143 3300007694 Rose P33260 1562 CYP2C18 Homo sapiens 9606 Comment/function Cytochromes P450 are a group of heme-thiolate monooxygenases. In liver microsomes, this enzyme is involved in an NADPH-dependent electron transport pathway. It oxidizes a variety of structurally unrelated compounds, including steroids, fatty acids, and xenobiotics. liver BTO:0000759 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 116 3300007695 Rose P33260 1562 CYP2C18 Homo sapiens 9606 Comment/function Cytochromes P450 are a group of heme-thiolate monooxygenases. In liver microsomes, this enzyme is involved in an NADPH-dependent electron transport pathway. It oxidizes a variety of structurally unrelated compounds, including steroids, fatty acids, and xenobiotics. liver UBERON:0002107 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 116 3300007696 Rose P33260 1562 CYP2C18 Homo sapiens 9606 Comment/subcellular location Endoplasmic reticulum membrane;Peripheral membrane protein endoplasmic reticulum membrane GO:0005789 SL-0097 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 116 3300007698 Rose P33260 1562 CYP2C18 Homo sapiens 9606 Comment/subcellular location Microsome membrane;Peripheral membrane protein intracellular membrane-bounded organelle GO:0043231 SL-0165 Y Y ECO:0000311 UniProtKB Microsome obsolete GO term AAP 11/28/2012 116 3300007699 Rose P33260 1562 CYP2C18 Homo sapiens 9606 EC 1.14.14.1 Y Y ECO:0000311 EC number UniProtKB AAP 11/28/2012 116 3300007700 Rose P33261 1557 CYP2C19 Homo sapiens 9606 Comment/miscellaneous Genetic variation in CYP2C19 is responsible for poor drug metabolism [MIM:609535]. Individuals can be characterized as either extensive metabolizers (EM) or poor metabolizers (PM). The PM phenotype is inherited in an autosomal recessive manner, with the EM phenotype comprising both homozygous dominant and heteroyzgote genotypes. There are marked interracial differences in the frequency of this polymorphism. Poor metabolizers represent 2-5% of Caucasians, 13-23% of Asian populations, and as many as 38-79% of individuals of some of the islands of Polynesia and Micronesia. Different alleles of CYP2C19 are known: CYP2C19*1A CYP2C19*1B, CYP2C19*1C, CYP2C19*2A (CYP2C19m1 or CYP2C19m1A), CYP2C19*2B (CYP2C19m1B), CYP2C19*2C (CYP2C19*21), CYP2C19*3A (CYP2C19m2), CYP2C19*3B (CYP2C19*20), CYP2C19*4 (CYP2C19m3), CYP2C19*5A (CYP2C19m4), CYP2C19*5B, CYP2C19*6, CYP2C19*7, CYP2C19*8, CYP2C19*9, CYP2C19*10, CYP2C19*11 CYP2C19*12, CYP2C19*13, CYP2C19*14 CYP2C19*15, CYP2C19*16, CYP2C19*18, CYP2C19*19. Defective CYP2C19*2 and CYP2C19*3 alleles are characterized by a splice mutation and a stop codon, respectively, and account for most of the PM alleles. The sequence shown is that of allele CYP2C19*1B. MIM:609535 Y Y ECO:0000311 UniProtKB OMIM phenotype#ORIGINAL data type: Comment/polymorphism AAP, DGA 11/28/2012 125 3300007705 Rose P33261 1557 CYP2C19 Homo sapiens 9606 Comment/subcellular location Endoplasmic reticulum membrane;Peripheral membrane protein endoplasmic reticulum membrane GO:0005789 SL-0097 Y Y ECO:0000311 UniProtKB AAP, DGA 11/28/2012 125 3300007706 Rose P33261 1557 CYP2C19 Homo sapiens 9606 Comment/subcellular location Microsome membrane;Peripheral membrane protein intracellular membrane-bounded organelle GO:0043231 SL-0165 Y Y ECO:0000311 UniProtKB Microsome obsolete GO term AAP, DGA 11/28/2012 125 3300007707 Rose P33261 1557 CYP2C19 Homo sapiens 9606 EC 1.14.13.- Y Y ECO:0000311 EC number UniProtKB AAP, DGA 11/28/2012 125 3300007708 Mike P10632 1558 CYP2C8 Homo sapiens 9606 Comment/function Cytochromes P450 are a group of heme-thiolate monooxygenases. In liver microsomes, this enzyme is involved in an NADPH-dependent electron transport pathway. It oxidizes a variety of structurally unrelated compounds, including steroids, fatty acids, and xenobiotics. In the epoxidation of arachidonic acid it generates only 14,15- and 11,12-cis-epoxyeicosatrienoic acids. It is the principal enzyme responsible for the metabolism the anti-cancer drug paclitaxel (taxol). fatty acid metabolic process GO:0006631 Y Y ECO:0000006 PubMed:7574697 UniProtKB AAP, DGA 11/28/2012 150 3300007711 Mike P10632 1558 CYP2C8 Homo sapiens 9606 Comment/function Cytochromes P450 are a group of heme-thiolate monooxygenases. In liver microsomes, this enzyme is involved in an NADPH-dependent electron transport pathway. It oxidizes a variety of structurally unrelated compounds, including steroids, fatty acids, and xenobiotics. In the epoxidation of arachidonic acid it generates only 14,15- and 11,12-cis-epoxyeicosatrienoic acids. It is the principal enzyme responsible for the metabolism the anti-cancer drug paclitaxel (taxol). paclitaxel metabolic process GO:0042616 Y Y ECO:0000006 PubMed:7574697 UniProtKB AAP, DGA 11/28/2012 150 3300007712 Mike P10632 1558 CYP2C8 Homo sapiens 9606 Comment/function Cytochromes P450 are a group of heme-thiolate monooxygenases. In liver microsomes, this enzyme is involved in an NADPH-dependent electron transport pathway. It oxidizes a variety of structurally unrelated compounds, including steroids, fatty acids, and xenobiotics. In the epoxidation of arachidonic acid it generates only 14,15- and 11,12-cis-epoxyeicosatrienoic acids. It is the principal enzyme responsible for the metabolism the anti-cancer drug paclitaxel (taxol). steroid metabolic process GO:0008202 Y Y ECO:0000006 PubMed:7574697 UniProtKB AAP, DGA 11/28/2012 150 3300007713 Mike P10632 1558 CYP2C8 Homo sapiens 9606 Comment/function Cytochromes P450 are a group of heme-thiolate monooxygenases. In liver microsomes, this enzyme is involved in an NADPH-dependent electron transport pathway. It oxidizes a variety of structurally unrelated compounds, including steroids, fatty acids, and xenobiotics. In the epoxidation of arachidonic acid it generates only 14,15- and 11,12-cis-epoxyeicosatrienoic acids. It is the principal enzyme responsible for the metabolism the anti-cancer drug paclitaxel (taxol). liver BTO:0000759 Y Y ECO:0000006 PubMed:7574697 UniProtKB AAP, DGA 11/28/2012 150 3300007714 Mike P10632 1558 CYP2C8 Homo sapiens 9606 Comment/function Cytochromes P450 are a group of heme-thiolate monooxygenases. In liver microsomes, this enzyme is involved in an NADPH-dependent electron transport pathway. It oxidizes a variety of structurally unrelated compounds, including steroids, fatty acids, and xenobiotics. In the epoxidation of arachidonic acid it generates only 14,15- and 11,12-cis-epoxyeicosatrienoic acids. It is the principal enzyme responsible for the metabolism the anti-cancer drug paclitaxel (taxol). liver UBERON:0002107 Y Y ECO:0000006 PubMed:7574697 UniProtKB AAP, DGA 11/28/2012 150 3300007715 Mike P10632 1558 CYP2C8 Homo sapiens 9606 Comment/subcellular location Endoplasmic reticulum membrane;Peripheral membrane protein extrinsic component of endoplasmic reticulum membrane GO:0042406 SL-0097 Y Y ECO:0000311 UniProtKB AAP, DGA 11/28/2012 150 3300007717 Mike P10632 1558 CYP2C8 Homo sapiens 9606 EC 1.14.14.1 Y Y ECO:0000311 EC number UniProtKB AAP, DGA 11/28/2012 150 3300007719 Mike P11712 1559 CYP2C9 Homo sapiens 9606 Comment/function Cytochromes P450 are a group of heme-thiolate monooxygenases. In liver microsomes, this enzyme is involved in an NADPH-dependent electron transport pathway. It oxidizes a variety of structurally unrelated compounds, including steroids, fatty acids, and xenobiotics. This enzyme contributes to the wide pharmacokinetics variability of the metabolism of drugs such as S-warfarin, diclofenac, phenytoin, tolbutamide and losartan. fatty acid metabolic process GO:0006631 Y Y ECO:0000311 UniProtKB AAP, DGA 1/9/2013 152 3300007720 Mike P11712 1559 CYP2C9 Homo sapiens 9606 Comment/function Cytochromes P450 are a group of heme-thiolate monooxygenases. In liver microsomes, this enzyme is involved in an NADPH-dependent electron transport pathway. It oxidizes a variety of structurally unrelated compounds, including steroids, fatty acids, and xenobiotics. This enzyme contributes to the wide pharmacokinetics variability of the metabolism of drugs such as S-warfarin, diclofenac, phenytoin, tolbutamide and losartan. steroid metabolic process GO:0008202 Y Y ECO:0000311 UniProtKB AAP, DGA 1/9/2013 152 3300007721 Mike P11712 1559 CYP2C9 Homo sapiens 9606 Comment/function Cytochromes P450 are a group of heme-thiolate monooxygenases. In liver microsomes, this enzyme is involved in an NADPH-dependent electron transport pathway. It oxidizes a variety of structurally unrelated compounds, including steroids, fatty acids, and xenobiotics. This enzyme contributes to the wide pharmacokinetics variability of the metabolism of drugs such as S-warfarin, diclofenac, phenytoin, tolbutamide and losartan. liver BTO:0000759 Y Y ECO:0000311 UniProtKB AAP, DGA 1/9/2013 152 3300007722 Mike P11712 1559 CYP2C9 Homo sapiens 9606 Comment/function Cytochromes P450 are a group of heme-thiolate monooxygenases. In liver microsomes, this enzyme is involved in an NADPH-dependent electron transport pathway. It oxidizes a variety of structurally unrelated compounds, including steroids, fatty acids, and xenobiotics. This enzyme contributes to the wide pharmacokinetics variability of the metabolism of drugs such as S-warfarin, diclofenac, phenytoin, tolbutamide and losartan. liver UBERON:0002107 Y Y ECO:0000311 UniProtKB AAP, DGA 1/9/2013 152 3300007723 Mike P11712 1559 CYP2C9 Homo sapiens 9606 Comment/subcellular location Endoplasmic reticulum membrane;Peripheral membrane protein extrinsic component of endoplasmic reticulum membrane GO:0042406 SL-0097 Y Y ECO:0000311 UniProtKB AAP, DGA 1/9/2013 152 3300007725 Mike P11712 1559 CYP2C9 Homo sapiens 9606 EC 1.14.13.- Y Y ECO:0000311 EC number UniProtKB This EC number describes a class of reactions. This enzyme is also annotated with other, more specific, EC numbers. AAP, DGA 1/9/2013 152 3300007727 Mike P11712 1559 CYP2C9 Homo sapiens 9606 EC 1.14.13.80 Y Y ECO:0000311 EC number UniProtKB AAP, DGA 1/9/2013 152 3300007728 Mike P11712 1559 CYP2C9 Homo sapiens 9606 EC 1.14.13.48 Y Y ECO:0000311 EC number UniProtKB AAP, DGA 1/9/2013 152 3300007729 Mike P11712 1559 CYP2C9 Homo sapiens 9606 EC 1.14.13.49 Y Y ECO:0000311 EC number UniProtKB AAP, DGA 1/9/2013 152 3300007730 Mike P10635 1565 CYP2D6 Homo sapiens 9606 Comment/function Responsible for the metabolism of many drugs and environmental chemicals that it oxidizes. It is involved in the metabolism of drugs such as antiarrhythmics, adrenoceptor antagonists, and tricyclic antidepressants. drug metabolic process GO:0017144 Y Y ECO:0000006 PubMed:16352597 UniProtKB New reference for this annotation. AAP, DGA 1/9/2013 146 3300007731 Mike P10635 1565 CYP2D6 Homo sapiens 9606 Comment/miscellaneous Genetic variations in CYP2D6 are the cause of poor drug metabolism CYP2D6-related [MIM:608902]. The CYP2D6 gene is highly polymorphic. CYP2D6 activity ranges widely within a population comprising ultrarapid (UM), extensive (EM), intermediate (IM) and poor (PM) metabolizer phenotypes. UM and PM are those most at risk for treatment failure or dose-dependent drug toxicity, respectively. Of the Caucasian populations of Europe and North America, 5%-10% are of the PM phenotype and are unable to metabolize the antihypersensitive drug debrisoquine and numerous other drugs. MIM:608902 Y Y ECO:0000311 UniProtKB #ORIGINAL data type: Comment/polymorphism AAP, DGA 1/9/2013 146 3300007734 Mike P10635 1565 CYP2D6 Homo sapiens 9606 Comment/subcellular location Endoplasmic reticulum membrane;Peripheral membrane protein extrinsic component of endoplasmic reticulum membrane GO:0042406 SL-0097 Y Y ECO:0000311 UniProtKB AAP, DGA 1/9/2013 146 3300007735 Mike P10635 1565 CYP2D6 Homo sapiens 9606 EC 1.14.14.1 Y Y ECO:0000311 EC number UniProtKB AAP, DGA 1/9/2013 146 3300007737 Mike P05181 1571 CYP2E1 Homo sapiens 9606 Comment/function Metabolizes several precarcinogens, drugs, and solvents to reactive metabolites. Inactivates a number of drugs and xenobiotics and also bioactivates many xenobiotic substrates to their hepatotoxic or carcinogenic forms. xenobiotic metabolic process GO:0006805 Y Y ECO:0000311 UniProtKB AAP, DGA 1/9/2013 144 3300007738 Mike P05181 1571 CYP2E1 Homo sapiens 9606 Comment/subcellular location Endoplasmic reticulum membrane;Peripheral membrane protein extrinsic component of endoplasmic reticulum membrane GO:0042406 SL-0097 Y Y ECO:0000311 UniProtKB AAP, DGA 1/9/2013 144 3300007740 Mike P05181 1571 CYP2E1 Homo sapiens 9606 EC 1.14.13.- Y Y ECO:0000311 EC number UniProtKB This EC code refers to oxidoreductases; it covers a wide range of reactions. Also annotated to 1.14.13.n7 . AAP, DGA 1/9/2013 144 3300007742 Faith P51589 1573 CYP2J2 Homo sapiens 9606 Comment/subcellular location Endoplasmic reticulum membrane;Peripheral membrane protein endoplasmic reticulum membrane GO:0005789 SL-0097 Y Y ECO:0000311 UniProtKB AAP, DGA 11/28/2012 121 3300007744 Faith/Rose P51589 1573 CYP2J2 Homo sapiens 9606 Comment/subcellular location Microsome membrane;Peripheral membrane protein intracellular membrane-bounded organelle GO:0043231 SL-0165 Y Y ECO:0000311 UniProtKB AAP, DGA 11/28/2012 121 3300007745 Faith P51589 1573 CYP2J2 Homo sapiens 9606 Comment/tissue specificity Highly expressed in heart, present at lower levels in liver, ileum, jejunum, colon, and kidney. colon BTO:0000269 Y Y ECO:0000311 UniProtKB expressed lower than in heart AAP, DGA 11/28/2012 121 3300007746 Faith P51589 1573 CYP2J2 Homo sapiens 9606 Comment/tissue specificity Highly expressed in heart, present at lower levels in liver, ileum, jejunum, colon, and kidney. colon UBERON:0001155 Y Y ECO:0000311 UniProtKB expressed lower than in heart AAP, DGA 11/28/2012 121 3300007747 Faith P51589 1573 CYP2J2 Homo sapiens 9606 Comment/tissue specificity Highly expressed in heart, present at lower levels in liver, ileum, jejunum, colon, and kidney. ileum BTO:0000620 Y Y ECO:0000311 UniProtKB expressed lower than in heart AAP, DGA 11/28/2012 121 3300007748 Faith P51589 1573 CYP2J2 Homo sapiens 9606 Comment/tissue specificity Highly expressed in heart, present at lower levels in liver, ileum, jejunum, colon, and kidney. ileum UBERON:0002116 Y Y ECO:0000311 UniProtKB expressed lower than in heart AAP, DGA 11/28/2012 121 3300007749 Faith P51589 1573 CYP2J2 Homo sapiens 9606 Comment/tissue specificity Highly expressed in heart, present at lower levels in liver, ileum, jejunum, colon, and kidney. jejunum BTO:0000657 Y Y ECO:0000311 UniProtKB expressed lower than in heart AAP, DGA 11/28/2012 121 3300007750 Faith P51589 1573 CYP2J2 Homo sapiens 9606 Comment/tissue specificity Highly expressed in heart, present at lower levels in liver, ileum, jejunum, colon, and kidney. jejunum UBERON:0002115 Y Y ECO:0000311 UniProtKB expressed lower than in heart AAP, DGA 11/28/2012 121 3300007751 Faith P51589 1573 CYP2J2 Homo sapiens 9606 Comment/tissue specificity Highly expressed in heart, present at lower levels in liver, ileum, jejunum, colon, and kidney. kidney BTO:0000671 Y Y ECO:0000311 UniProtKB expressed lower than in heart AAP, DGA 11/28/2012 121 3300007752 Faith P51589 1573 CYP2J2 Homo sapiens 9606 Comment/tissue specificity Highly expressed in heart, present at lower levels in liver, ileum, jejunum, colon, and kidney. kidney UBERON:0002113 Y Y ECO:0000311 UniProtKB expressed lower than in heart AAP, DGA 11/28/2012 121 3300007753 Faith P51589 1573 CYP2J2 Homo sapiens 9606 Comment/tissue specificity Highly expressed in heart, present at lower levels in liver, ileum, jejunum, colon, and kidney. liver BTO:0000759 Y Y ECO:0000311 UniProtKB expressed lower than in heart AAP, DGA 11/28/2012 121 3300007754 Faith P51589 1573 CYP2J2 Homo sapiens 9606 Comment/tissue specificity Highly expressed in heart, present at lower levels in liver, ileum, jejunum, colon, and kidney. liver UBERON:0002107 Y Y ECO:0000311 UniProtKB expressed lower than in heart AAP, DGA 11/28/2012 121 3300007755 Faith P51589 1573 CYP2J2 Homo sapiens 9606 Comment/tissue specificity Highly expressed in heart, present at lower levels in liver, ileum, jejunum, colon, and kidney. heart BTO:0000562 Y Y ECO:0000311 UniProtKB highly expressed AAP, DGA 11/28/2012 121 3300007756 Faith P51589 1573 CYP2J2 Homo sapiens 9606 Comment/tissue specificity Highly expressed in heart, present at lower levels in liver, ileum, jejunum, colon, and kidney. heart UBERON:0000948 Y Y ECO:0000311 UniProtKB highly expressed AAP, DGA 11/28/2012 121 3300007757 Faith P51589 1573 CYP2J2 Homo sapiens 9606 EC 1.14.14.1 Y Y ECO:0000311 EC number UniProtKB AAP, DGA 11/28/2012 121 3300007758 Faith/Rose Q7Z449 113612 CYP2U1 Homo sapiens 9606 Comment/developmental stage Expressed in fetal thymus. thymus BTO:0001374 fetus BTO:0000449 Y Y ECO:0000006 PubMed:14660610 PubMed:15752708 UniProtKB fetus; Rose removed ""thymus"" human developmental anatomy ontology term AAP 11/28/2012 94 3300007759 Faith/Rose Q7Z449 113612 CYP2U1 Homo sapiens 9606 Comment/developmental stage Expressed in fetal thymus. thymus UBERON:0002370 fetus BTO:0000449 Y Y ECO:0000006 PubMed:14660610 PubMed:15752708 UniProtKB fetus; Rose removed ""thymus"" human developmental anatomy ontology term AAP 11/28/2012 94 3300007760 Faith Q7Z449 113612 CYP2U1 Homo sapiens 9606 Comment/function Catalyzes the hydroxylation of arachidonic acid, docosahexaenoic acid and other long chain fatty acids. May modulate the arachidonic acid signaling pathway and play a role in other fatty acid signaling processes. Y Y ECO:0000006 PubMed:14660610 UniProtKB AAP 11/28/2012 94 3300007761 Faith Q7Z449 113612 CYP2U1 Homo sapiens 9606 Comment/subcellular location Endoplasmic reticulum membrane;Multi-pass membrane protein endoplasmic reticulum membrane GO:0005789 SL-0097 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 94 3300007762 Faith/Rose Q7Z449 113612 CYP2U1 Homo sapiens 9606 Comment/subcellular location Microsome membrane intracellular membrane-bounded organelle GO:0043231 SL-0165 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 94 3300007763 Faith Q7Z449 113612 CYP2U1 Homo sapiens 9606 Comment/tissue specificity Widely expressed with stronger expression in thymus, heart and cerebellum. cerebellum BTO:0000232 Y Y ECO:0000006 PubMed:14660610 PubMed:14975754 PubMed:15752708 UniProtKB stronger expression AAP 11/28/2012 94 3300007764 Faith Q7Z449 113612 CYP2U1 Homo sapiens 9606 Comment/tissue specificity Widely expressed with stronger expression in thymus, heart and cerebellum. cerebellum UBERON:0002037 Y Y ECO:0000006 PubMed:14660610 PubMed:14975754 PubMed:15752708 UniProtKB stronger expression AAP 11/28/2012 94 3300007765 Faith Q7Z449 113612 CYP2U1 Homo sapiens 9606 Comment/tissue specificity Widely expressed with stronger expression in thymus, heart and cerebellum. heart BTO:0000562 Y Y ECO:0000006 PubMed:14660610 PubMed:14975754 PubMed:15752708 UniProtKB stronger expression AAP 11/28/2012 94 3300007766 Faith Q7Z449 113612 CYP2U1 Homo sapiens 9606 Comment/tissue specificity Widely expressed with stronger expression in thymus, heart and cerebellum. heart UBERON:0000948 Y Y ECO:0000006 PubMed:14660610 PubMed:14975754 PubMed:15752708 UniProtKB stronger expression AAP 11/28/2012 94 3300007767 Faith Q7Z449 113612 CYP2U1 Homo sapiens 9606 Comment/tissue specificity Widely expressed with stronger expression in thymus, heart and cerebellum. thymus BTO:0001374 Y Y ECO:0000006 PubMed:14660610 PubMed:14975754 PubMed:15752708 UniProtKB Widely expressed; stronger expression AAP 11/28/2012 94 3300007768 Faith Q7Z449 113612 CYP2U1 Homo sapiens 9606 Comment/tissue specificity Widely expressed with stronger expression in thymus, heart and cerebellum. thymus UBERON:0002370 Y Y ECO:0000006 PubMed:14660610 PubMed:14975754 PubMed:15752708 UniProtKB Widely expressed; stronger expression AAP 11/28/2012 94 3300007769 Faith Q7Z449 113612 CYP2U1 Homo sapiens 9606 EC 1.14.14.1 Y Y ECO:0000311 EC number UniProtKB AAP 11/28/2012 94 3300007770 Mike/Faith P08684 1576 CYP3A4 Homo sapiens 9606 Comment/tissue specificity Expressed in prostate and liver. According to some authors, it is not expressed in brain (PubMed:19094056). According to others, weak levels of expression are measured in some brain locations (PubMed:19359404 and PubMed:18545703). Also expressed in epithelium of the small intestine and large intestine, bile duct, nasal mucosa, kidney, adrenal cortex, epithelium of the gastric mucosa with intestinal metaplasia, gallbladder, intercalated ducts of the pancreas, chief cells of the parathyroid and the corpus luteum of the ovary (at protein level). parathyroid hormone secreting cell BTO:0004712 chief cell of parathyroid gland CL:0000446 Y Y ECO:0000006 PubMed:2732228 PubMed:8035341 PubMed:7894497 PubMed:19094056 PubMed:18545703 PubMed:19359404 UniProtKB Best match is from ""other ontology"" AAP, DGA 11/28/2012 154 3300007771 Mike/Faith P08684 1576 CYP3A4 Homo sapiens 9606 Comment/tissue specificity Expressed in prostate and liver. According to some authors, it is not expressed in brain (PubMed:19094056). According to others, weak levels of expression are measured in some brain locations (PubMed:19359404 and PubMed:18545703). Also expressed in epithelium of the small intestine and large intestine, bile duct, nasal mucosa, kidney, adrenal cortex, epithelium of the gastric mucosa with intestinal metaplasia, gallbladder, intercalated ducts of the pancreas, chief cells of the parathyroid and the corpus luteum of the ovary (at protein level). parathyroid gland UBERON:0001132 chief cell of parathyroid gland CL:0000446 Y Y ECO:0000006 PubMed:2732228 PubMed:8035341 PubMed:7894497 PubMed:19094056 PubMed:18545703 PubMed:19359404 UniProtKB Best match is from ""other ontology"" AAP, DGA 11/28/2012 154 3300007772 Mike P08684 1576 CYP3A4 Homo sapiens 9606 Comment/subcellular location Endoplasmic reticulum membrane;Single-pass membrane protein integral component of endoplasmic reticulum membrane GO:0030176 SL-0097 Y Y ECO:0000311 UniProtKB AAP, DGA 11/28/2012 154 3300007776 Mike P08684 1576 CYP3A4 Homo sapiens 9606 Comment/subcellular location Microsome membrane;Single-pass membrane protein integral component of membrane GO:0016021 SL-0165 Y Y ECO:0000311 UniProtKB microsome has been deprecated. AAP, DGA 11/28/2012 154 3300007777 Mike P08684 1576 CYP3A4 Homo sapiens 9606 Comment/tissue specificity Expressed in prostate and liver. According to some authors, it is not expressed in brain (PubMed:19094056). According to others, weak levels of expression are measured in some brain locations (PubMed:19359404 and PubMed:18545703). Also expressed in epithelium of the small intestine and large intestine, bile duct, nasal mucosa, kidney, adrenal cortex, epithelium of the gastric mucosa with intestinal metaplasia, gallbladder, intercalated ducts of the pancreas, chief cells of the parathyroid and the corpus luteum of the ovary (at protein level). gastric mucosa BTO:0001308 Y Y ECO:0000006 PubMed:2732228 PubMed:8035341 PubMed:7894497 PubMed:19094056 PubMed:18545703 PubMed:19359404 UniProtKB intestinal metaplasia AAP, DGA 11/28/2012 154 3300007779 Mike P08684 1576 CYP3A4 Homo sapiens 9606 Comment/tissue specificity Expressed in prostate and liver. According to some authors, it is not expressed in brain (PubMed:19094056). According to others, weak levels of expression are measured in some brain locations (PubMed:19359404 and PubMed:18545703). Also expressed in epithelium of the small intestine and large intestine, bile duct, nasal mucosa, kidney, adrenal cortex, epithelium of the gastric mucosa with intestinal metaplasia, gallbladder, intercalated ducts of the pancreas, chief cells of the parathyroid and the corpus luteum of the ovary (at protein level). epithelium of stomach UBERON:0001276 Y Y ECO:0000006 PubMed:2732228 PubMed:8035341 PubMed:7894497 PubMed:19094056 PubMed:18545703 PubMed:19359404 UniProtKB intestinal metaplasia AAP, DGA 11/28/2012 154 3300007780 Mike P08684 1576 CYP3A4 Homo sapiens 9606 Comment/tissue specificity Expressed in prostate and liver. According to some authors, it is not expressed in brain (PubMed:19094056). According to others, weak levels of expression are measured in some brain locations (PubMed:19359404 and PubMed:18545703). Also expressed in epithelium of the small intestine and large intestine, bile duct, nasal mucosa, kidney, adrenal cortex, epithelium of the gastric mucosa with intestinal metaplasia, gallbladder, intercalated ducts of the pancreas, chief cells of the parathyroid and the corpus luteum of the ovary (at protein level). pancreas BTO:0000988 Y Y ECO:0000006 PubMed:2732228 PubMed:8035341 PubMed:7894497 PubMed:19094056 PubMed:18545703 PubMed:19359404 UniProtKB Uberon term is more specific than BRENDA term. AAP, DGA 11/28/2012 154 3300007781 Mike P08684 1576 CYP3A4 Homo sapiens 9606 Comment/tissue specificity Expressed in prostate and liver. According to some authors, it is not expressed in brain (PubMed:19094056). According to others, weak levels of expression are measured in some brain locations (PubMed:19359404 and PubMed:18545703). Also expressed in epithelium of the small intestine and large intestine, bile duct, nasal mucosa, kidney, adrenal cortex, epithelium of the gastric mucosa with intestinal metaplasia, gallbladder, intercalated ducts of the pancreas, chief cells of the parathyroid and the corpus luteum of the ovary (at protein level). pancreatic duct UBERON:0007329 Y Y ECO:0000006 PubMed:2732228 PubMed:8035341 PubMed:7894497 PubMed:19094056 PubMed:18545703 PubMed:19359404 UniProtKB Uberon term is more specific than BRENDA term. AAP, DGA 11/28/2012 154 3300007782 Mike P08684 1576 CYP3A4 Homo sapiens 9606 Comment/tissue specificity Expressed in prostate and liver. According to some authors, it is not expressed in brain (PubMed:19094056). According to others, weak levels of expression are measured in some brain locations (PubMed:19359404 and PubMed:18545703). Also expressed in epithelium of the small intestine and large intestine, bile duct, nasal mucosa, kidney, adrenal cortex, epithelium of the gastric mucosa with intestinal metaplasia, gallbladder, intercalated ducts of the pancreas, chief cells of the parathyroid and the corpus luteum of the ovary (at protein level). adrenal cortex BTO:0000045 Y Y ECO:0000006 PubMed:2732228 PubMed:8035341 PubMed:7894497 PubMed:19094056 PubMed:18545703 PubMed:19359404 UniProtKB AAP, DGA 11/28/2012 154 3300007783 Mike P08684 1576 CYP3A4 Homo sapiens 9606 Comment/tissue specificity Expressed in prostate and liver. According to some authors, it is not expressed in brain (PubMed:19094056). According to others, weak levels of expression are measured in some brain locations (PubMed:19359404 and PubMed:18545703). Also expressed in epithelium of the small intestine and large intestine, bile duct, nasal mucosa, kidney, adrenal cortex, epithelium of the gastric mucosa with intestinal metaplasia, gallbladder, intercalated ducts of the pancreas, chief cells of the parathyroid and the corpus luteum of the ovary (at protein level). adrenal cortex UBERON:0001235 Y Y ECO:0000006 PubMed:2732228 PubMed:8035341 PubMed:7894497 PubMed:19094056 PubMed:18545703 PubMed:19359404 UniProtKB AAP, DGA 11/28/2012 154 3300007784 Mike P08684 1576 CYP3A4 Homo sapiens 9606 Comment/tissue specificity Expressed in prostate and liver. According to some authors, it is not expressed in brain (PubMed:19094056). According to others, weak levels of expression are measured in some brain locations (PubMed:19359404 and PubMed:18545703). Also expressed in epithelium of the small intestine and large intestine, bile duct, nasal mucosa, kidney, adrenal cortex, epithelium of the gastric mucosa with intestinal metaplasia, gallbladder, intercalated ducts of the pancreas, chief cells of the parathyroid and the corpus luteum of the ovary (at protein level). bile duct BTO:0000122 Y Y ECO:0000006 PubMed:2732228 PubMed:8035341 PubMed:7894497 PubMed:19094056 PubMed:18545703 PubMed:19359404 UniProtKB AAP, DGA 11/28/2012 154 3300007785 Mike P08684 1576 CYP3A4 Homo sapiens 9606 Comment/tissue specificity Expressed in prostate and liver. According to some authors, it is not expressed in brain (PubMed:19094056). According to others, weak levels of expression are measured in some brain locations (PubMed:19359404 and PubMed:18545703). Also expressed in epithelium of the small intestine and large intestine, bile duct, nasal mucosa, kidney, adrenal cortex, epithelium of the gastric mucosa with intestinal metaplasia, gallbladder, intercalated ducts of the pancreas, chief cells of the parathyroid and the corpus luteum of the ovary (at protein level). bile duct UBERON:0002394 Y Y ECO:0000006 PubMed:2732228 PubMed:8035341 PubMed:7894497 PubMed:19094056 PubMed:18545703 PubMed:19359404 UniProtKB AAP, DGA 11/28/2012 154 3300007786 Mike P08684 1576 CYP3A4 Homo sapiens 9606 Comment/tissue specificity Expressed in prostate and liver. According to some authors, it is not expressed in brain (PubMed:19094056). According to others, weak levels of expression are measured in some brain locations (PubMed:19359404 and PubMed:18545703). Also expressed in epithelium of the small intestine and large intestine, bile duct, nasal mucosa, kidney, adrenal cortex, epithelium of the gastric mucosa with intestinal metaplasia, gallbladder, intercalated ducts of the pancreas, chief cells of the parathyroid and the corpus luteum of the ovary (at protein level). brain BTO:0000142 Y Y ECO:0000006 PubMed:19359404 PubMed:18545703 UniProtKB AAP, DGA 11/28/2012 154 3300007787 Mike P08684 1576 CYP3A4 Homo sapiens 9606 Comment/tissue specificity Expressed in prostate and liver. According to some authors, it is not expressed in brain (PubMed:19094056). According to others, weak levels of expression are measured in some brain locations (PubMed:19359404 and PubMed:18545703). Also expressed in epithelium of the small intestine and large intestine, bile duct, nasal mucosa, kidney, adrenal cortex, epithelium of the gastric mucosa with intestinal metaplasia, gallbladder, intercalated ducts of the pancreas, chief cells of the parathyroid and the corpus luteum of the ovary (at protein level). brain UBERON:0000955 Y Y ECO:0000006 PubMed:19359404 PubMed:18545703 UniProtKB AAP, DGA 11/28/2012 154 3300007788 Mike P08684 1576 CYP3A4 Homo sapiens 9606 Comment/tissue specificity Expressed in prostate and liver. According to some authors, it is not expressed in brain (PubMed:19094056). According to others, weak levels of expression are measured in some brain locations (PubMed:19359404 and PubMed:18545703). Also expressed in epithelium of the small intestine and large intestine, bile duct, nasal mucosa, kidney, adrenal cortex, epithelium of the gastric mucosa with intestinal metaplasia, gallbladder, intercalated ducts of the pancreas, chief cells of the parathyroid and the corpus luteum of the ovary (at protein level). corpus luteum BTO:0000292 Y Y ECO:0000006 PubMed:2732228 PubMed:8035341 PubMed:7894497 PubMed:19094056 PubMed:18545703 PubMed:19359404 UniProtKB AAP, DGA 11/28/2012 154 3300007789 Mike P08684 1576 CYP3A4 Homo sapiens 9606 Comment/tissue specificity Expressed in prostate and liver. According to some authors, it is not expressed in brain (PubMed:19094056). According to others, weak levels of expression are measured in some brain locations (PubMed:19359404 and PubMed:18545703). Also expressed in epithelium of the small intestine and large intestine, bile duct, nasal mucosa, kidney, adrenal cortex, epithelium of the gastric mucosa with intestinal metaplasia, gallbladder, intercalated ducts of the pancreas, chief cells of the parathyroid and the corpus luteum of the ovary (at protein level). corpus luteum UBERON:0002512 Y Y ECO:0000006 PubMed:2732228 PubMed:8035341 PubMed:7894497 PubMed:19094056 PubMed:18545703 PubMed:19359404 UniProtKB AAP, DGA 11/28/2012 154 3300007790 Mike P08684 1576 CYP3A4 Homo sapiens 9606 Comment/tissue specificity Expressed in prostate and liver. According to some authors, it is not expressed in brain (PubMed:19094056). According to others, weak levels of expression are measured in some brain locations (PubMed:19359404 and PubMed:18545703). Also expressed in epithelium of the small intestine and large intestine, bile duct, nasal mucosa, kidney, adrenal cortex, epithelium of the gastric mucosa with intestinal metaplasia, gallbladder, intercalated ducts of the pancreas, chief cells of the parathyroid and the corpus luteum of the ovary (at protein level). gall bladder BTO:0000493 Y Y ECO:0000006 PubMed:2732228 PubMed:8035341 PubMed:7894497 PubMed:19094056 PubMed:18545703 PubMed:19359404 UniProtKB AAP, DGA 11/28/2012 154 3300007791 Mike P08684 1576 CYP3A4 Homo sapiens 9606 Comment/tissue specificity Expressed in prostate and liver. According to some authors, it is not expressed in brain (PubMed:19094056). According to others, weak levels of expression are measured in some brain locations (PubMed:19359404 and PubMed:18545703). Also expressed in epithelium of the small intestine and large intestine, bile duct, nasal mucosa, kidney, adrenal cortex, epithelium of the gastric mucosa with intestinal metaplasia, gallbladder, intercalated ducts of the pancreas, chief cells of the parathyroid and the corpus luteum of the ovary (at protein level). gallbladder UBERON:0002110 Y Y ECO:0000006 PubMed:2732228 PubMed:8035341 PubMed:7894497 PubMed:19094056 PubMed:18545703 PubMed:19359404 UniProtKB AAP, DGA 11/28/2012 154 3300007792 Mike P08684 1576 CYP3A4 Homo sapiens 9606 Comment/tissue specificity Expressed in prostate and liver. According to some authors, it is not expressed in brain (PubMed:19094056). According to others, weak levels of expression are measured in some brain locations (PubMed:19359404 and PubMed:18545703). Also expressed in epithelium of the small intestine and large intestine, bile duct, nasal mucosa, kidney, adrenal cortex, epithelium of the gastric mucosa with intestinal metaplasia, gallbladder, intercalated ducts of the pancreas, chief cells of the parathyroid and the corpus luteum of the ovary (at protein level). kidney BTO:0000671 Y Y ECO:0000006 PubMed:2732228 PubMed:8035341 PubMed:7894497 PubMed:19094056 PubMed:18545703 PubMed:19359404 UniProtKB AAP, DGA 11/28/2012 154 3300007793 Mike P08684 1576 CYP3A4 Homo sapiens 9606 Comment/tissue specificity Expressed in prostate and liver. According to some authors, it is not expressed in brain (PubMed:19094056). According to others, weak levels of expression are measured in some brain locations (PubMed:19359404 and PubMed:18545703). Also expressed in epithelium of the small intestine and large intestine, bile duct, nasal mucosa, kidney, adrenal cortex, epithelium of the gastric mucosa with intestinal metaplasia, gallbladder, intercalated ducts of the pancreas, chief cells of the parathyroid and the corpus luteum of the ovary (at protein level). kidney UBERON:0002113 Y Y ECO:0000006 PubMed:2732228 PubMed:8035341 PubMed:7894497 PubMed:19094056 PubMed:18545703 PubMed:19359404 UniProtKB AAP, DGA 11/28/2012 154 3300007794 Mike P08684 1576 CYP3A4 Homo sapiens 9606 Comment/tissue specificity Expressed in prostate and liver. According to some authors, it is not expressed in brain (PubMed:19094056). According to others, weak levels of expression are measured in some brain locations (PubMed:19359404 and PubMed:18545703). Also expressed in epithelium of the small intestine and large intestine, bile duct, nasal mucosa, kidney, adrenal cortex, epithelium of the gastric mucosa with intestinal metaplasia, gallbladder, intercalated ducts of the pancreas, chief cells of the parathyroid and the corpus luteum of the ovary (at protein level). large intestine BTO:0000706 Y Y ECO:0000006 PubMed:2732228 PubMed:8035341 PubMed:7894497 PubMed:19094056 PubMed:18545703 PubMed:19359404 UniProtKB AAP, DGA 11/28/2012 154 3300007795 Mike P08684 1576 CYP3A4 Homo sapiens 9606 Comment/tissue specificity Expressed in prostate and liver. According to some authors, it is not expressed in brain (PubMed:19094056). According to others, weak levels of expression are measured in some brain locations (PubMed:19359404 and PubMed:18545703). Also expressed in epithelium of the small intestine and large intestine, bile duct, nasal mucosa, kidney, adrenal cortex, epithelium of the gastric mucosa with intestinal metaplasia, gallbladder, intercalated ducts of the pancreas, chief cells of the parathyroid and the corpus luteum of the ovary (at protein level). large intestine UBERON:0000059 Y Y ECO:0000006 PubMed:2732228 PubMed:8035341 PubMed:7894497 PubMed:19094056 PubMed:18545703 PubMed:19359404 UniProtKB AAP, DGA 11/28/2012 154 3300007796 Mike P08684 1576 CYP3A4 Homo sapiens 9606 Comment/tissue specificity Expressed in prostate and liver. According to some authors, it is not expressed in brain (PubMed:19094056). According to others, weak levels of expression are measured in some brain locations (PubMed:19359404 and PubMed:18545703). Also expressed in epithelium of the small intestine and large intestine, bile duct, nasal mucosa, kidney, adrenal cortex, epithelium of the gastric mucosa with intestinal metaplasia, gallbladder, intercalated ducts of the pancreas, chief cells of the parathyroid and the corpus luteum of the ovary (at protein level). liver BTO:0000759 Y Y ECO:0000006 PubMed:2732228 PubMed:8035341 PubMed:7894497 PubMed:19094056 PubMed:18545703 PubMed:19359404 UniProtKB AAP, DGA 11/28/2012 154 3300007797 Mike P08684 1576 CYP3A4 Homo sapiens 9606 Comment/tissue specificity Expressed in prostate and liver. According to some authors, it is not expressed in brain (PubMed:19094056). According to others, weak levels of expression are measured in some brain locations (PubMed:19359404 and PubMed:18545703). Also expressed in epithelium of the small intestine and large intestine, bile duct, nasal mucosa, kidney, adrenal cortex, epithelium of the gastric mucosa with intestinal metaplasia, gallbladder, intercalated ducts of the pancreas, chief cells of the parathyroid and the corpus luteum of the ovary (at protein level). liver UBERON:0002107 Y Y ECO:0000006 PubMed:2732228 PubMed:8035341 PubMed:7894497 PubMed:19094056 PubMed:18545703 PubMed:19359404 UniProtKB AAP, DGA 11/28/2012 154 3300007798 Mike P08684 1576 CYP3A4 Homo sapiens 9606 Comment/tissue specificity Expressed in prostate and liver. According to some authors, it is not expressed in brain (PubMed:19094056). According to others, weak levels of expression are measured in some brain locations (PubMed:19359404 and PubMed:18545703). Also expressed in epithelium of the small intestine and large intestine, bile duct, nasal mucosa, kidney, adrenal cortex, epithelium of the gastric mucosa with intestinal metaplasia, gallbladder, intercalated ducts of the pancreas, chief cells of the parathyroid and the corpus luteum of the ovary (at protein level). nasal mucosa BTO:0000912 Y Y ECO:0000006 PubMed:2732228 PubMed:8035341 PubMed:7894497 PubMed:19094056 PubMed:18545703 PubMed:19359404 UniProtKB AAP, DGA 11/28/2012 154 3300007799 Mike P08684 1576 CYP3A4 Homo sapiens 9606 Comment/tissue specificity Expressed in prostate and liver. According to some authors, it is not expressed in brain (PubMed:19094056). According to others, weak levels of expression are measured in some brain locations (PubMed:19359404 and PubMed:18545703). Also expressed in epithelium of the small intestine and large intestine, bile duct, nasal mucosa, kidney, adrenal cortex, epithelium of the gastric mucosa with intestinal metaplasia, gallbladder, intercalated ducts of the pancreas, chief cells of the parathyroid and the corpus luteum of the ovary (at protein level). nasal cavity mucosa UBERON:0001826 Y Y ECO:0000006 PubMed:2732228 PubMed:8035341 PubMed:7894497 PubMed:19094056 PubMed:18545703 PubMed:19359404 UniProtKB AAP, DGA 11/28/2012 154 3300007800 Mike P08684 1576 CYP3A4 Homo sapiens 9606 Comment/tissue specificity Expressed in prostate and liver. According to some authors, it is not expressed in brain (PubMed:19094056). According to others, weak levels of expression are measured in some brain locations (PubMed:19359404 and PubMed:18545703). Also expressed in epithelium of the small intestine and large intestine, bile duct, nasal mucosa, kidney, adrenal cortex, epithelium of the gastric mucosa with intestinal metaplasia, gallbladder, intercalated ducts of the pancreas, chief cells of the parathyroid and the corpus luteum of the ovary (at protein level). prostate gland BTO:0001129 Y Y ECO:0000006 PubMed:2732228 PubMed:8035341 PubMed:7894497 PubMed:19094056 PubMed:18545703 PubMed:19359404 UniProtKB AAP, DGA 11/28/2012 154 3300007801 Mike P08684 1576 CYP3A4 Homo sapiens 9606 Comment/tissue specificity Expressed in prostate and liver. According to some authors, it is not expressed in brain (PubMed:19094056). According to others, weak levels of expression are measured in some brain locations (PubMed:19359404 and PubMed:18545703). Also expressed in epithelium of the small intestine and large intestine, bile duct, nasal mucosa, kidney, adrenal cortex, epithelium of the gastric mucosa with intestinal metaplasia, gallbladder, intercalated ducts of the pancreas, chief cells of the parathyroid and the corpus luteum of the ovary (at protein level). prostate gland UBERON:0002367 Y Y ECO:0000006 PubMed:2732228 PubMed:8035341 PubMed:7894497 PubMed:19094056 PubMed:18545703 PubMed:19359404 UniProtKB AAP, DGA 11/28/2012 154 3300007802 Mike P08684 1576 CYP3A4 Homo sapiens 9606 Comment/tissue specificity Expressed in prostate and liver. According to some authors, it is not expressed in brain (PubMed:19094056). According to others, weak levels of expression are measured in some brain locations (PubMed:19359404 and PubMed:18545703). Also expressed in epithelium of the small intestine and large intestine, bile duct, nasal mucosa, kidney, adrenal cortex, epithelium of the gastric mucosa with intestinal metaplasia, gallbladder, intercalated ducts of the pancreas, chief cells of the parathyroid and the corpus luteum of the ovary (at protein level). small intestine epithelium BTO:0001258 Y Y ECO:0000006 PubMed:2732228 PubMed:8035341 PubMed:7894497 PubMed:19094056 PubMed:18545703 PubMed:19359404 UniProtKB AAP, DGA 11/28/2012 154 3300007803 Mike P08684 1576 CYP3A4 Homo sapiens 9606 Comment/tissue specificity Expressed in prostate and liver. According to some authors, it is not expressed in brain (PubMed:19094056). According to others, weak levels of expression are measured in some brain locations (PubMed:19359404 and PubMed:18545703). Also expressed in epithelium of the small intestine and large intestine, bile duct, nasal mucosa, kidney, adrenal cortex, epithelium of the gastric mucosa with intestinal metaplasia, gallbladder, intercalated ducts of the pancreas, chief cells of the parathyroid and the corpus luteum of the ovary (at protein level). epithelium of small intestine UBERON:0001902 Y Y ECO:0000006 PubMed:2732228 PubMed:8035341 PubMed:7894497 PubMed:19094056 PubMed:18545703 PubMed:19359404 UniProtKB AAP, DGA 11/28/2012 154 3300007804 Mike P08684 1576 CYP3A4 Homo sapiens 9606 EC 1.14.13.- Y Y ECO:0000311 EC number UniProtKB This EC number refers to a class of reactions. This protein has other EC numbers, too. AAP, DGA 11/28/2012 154 3300007805 Mike P08684 1576 CYP3A4 Homo sapiens 9606 EC 1.14.13.157 Y Y ECO:0000311 EC number UniProtKB AAP, DGA 11/28/2012 154 3300007806 Mike P08684 1576 CYP3A4 Homo sapiens 9606 EC 1.14.13.32 Y Y ECO:0000311 EC number UniProtKB AAP, DGA 11/28/2012 154 3300007807 Mike P08684 1576 CYP3A4 Homo sapiens 9606 EC 1.14.13.67 Y Y ECO:0000311 EC number UniProtKB AAP, DGA 11/28/2012 154 3300007808 Mike P08684 1576 CYP3A4 Homo sapiens 9606 EC 1.14.13.97 Y Y ECO:0000311 EC number UniProtKB AAP, DGA 11/28/2012 154 3300007809 Faith Q02928 1579 CYP4A11 Homo sapiens 9606 Comment/subcellular location Endoplasmic reticulum membrane;Peripheral membrane protein endoplasmic reticulum membrane GO:0005789 SL-0097 Y Y ECO:0000311 UniProtKB AAP, DGA 11/28/2012 121 3300007811 Faith Q02928 1579 CYP4A11 Homo sapiens 9606 Comment/tissue specificity Kidney and liver. kidney BTO:0000671 Y Y ECO:0000311 UniProtKB AAP, DGA 11/28/2012 121 3300007813 Faith Q02928 1579 CYP4A11 Homo sapiens 9606 Comment/tissue specificity Kidney and liver. kidney UBERON:0002113 Y Y ECO:0000311 UniProtKB AAP, DGA 11/28/2012 121 3300007814 Faith Q02928 1579 CYP4A11 Homo sapiens 9606 Comment/tissue specificity Kidney and liver. liver BTO:0000759 Y Y ECO:0000311 UniProtKB AAP, DGA 11/28/2012 121 3300007815 Faith Q02928 1579 CYP4A11 Homo sapiens 9606 Comment/tissue specificity Kidney and liver. liver UBERON:0002107 Y Y ECO:0000311 UniProtKB AAP, DGA 11/28/2012 121 3300007816 Faith Q5TCH4 284541 CYP4A22 Homo sapiens 9606 Comment/function Catalyzes the omega- and (omega-1)-hydroxylation of various fatty acids such as laurate and palmitate. Shows no activity towards arachidonic acid and prostaglandin A1. Lacks functional activity in the kidney and does not contribute to renal 20-hydroxyeicosatetraenoic acid (20-HETE) biosynthesis. Y Y ECO:0000006 PubMed:10860550 PubMed:15611369 UniProtKB not functional in kidney AAP 11/28/2012 75 3300007818 Katie Q9HBI6 57834 CYP4F11 Homo sapiens 9606 Comment/tissue specificity Expressed mainly in human liver, followed by kidney, heart, and skeletal muscle. heart BTO:0000562 Y Y ECO:0000006 PubMed:10964514 UniProtKB AAP 11/28/2012 112 3300007824 Katie Q9HBI6 57834 CYP4F11 Homo sapiens 9606 Comment/tissue specificity Expressed mainly in human liver, followed by kidney, heart, and skeletal muscle. heart UBERON:0000948 Y Y ECO:0000006 PubMed:10964514 UniProtKB AAP 11/28/2012 112 3300007825 Katie Q9HBI6 57834 CYP4F11 Homo sapiens 9606 Comment/tissue specificity Expressed mainly in human liver, followed by kidney, heart, and skeletal muscle. kidney BTO:0000671 Y Y ECO:0000006 PubMed:10964514 UniProtKB AAP 11/28/2012 112 3300007826 Katie Q9HBI6 57834 CYP4F11 Homo sapiens 9606 Comment/tissue specificity Expressed mainly in human liver, followed by kidney, heart, and skeletal muscle. kidney UBERON:0002113 Y Y ECO:0000006 PubMed:10964514 UniProtKB AAP 11/28/2012 112 3300007827 Katie Q9HBI6 57834 CYP4F11 Homo sapiens 9606 Comment/tissue specificity Expressed mainly in human liver, followed by kidney, heart, and skeletal muscle. liver BTO:0000759 Y Y ECO:0000006 PubMed:10964514 UniProtKB AAP 11/28/2012 112 3300007828 Katie Q9HBI6 57834 CYP4F11 Homo sapiens 9606 Comment/tissue specificity Expressed mainly in human liver, followed by kidney, heart, and skeletal muscle. liver UBERON:0002107 Y Y ECO:0000006 PubMed:10964514 UniProtKB AAP 11/28/2012 112 3300007829 Katie Q9HBI6 57834 CYP4F11 Homo sapiens 9606 Comment/tissue specificity Expressed mainly in human liver, followed by kidney, heart, and skeletal muscle. skeletal muscle BTO:0001103 Y Y ECO:0000006 PubMed:10964514 UniProtKB AAP 11/28/2012 112 3300007830 Katie Q9HBI6 57834 CYP4F11 Homo sapiens 9606 Comment/tissue specificity Expressed mainly in human liver, followed by kidney, heart, and skeletal muscle. skeletal muscle tissue UBERON:0001134 Y Y ECO:0000006 PubMed:10964514 UniProtKB AAP 11/28/2012 112 3300007831 Katie Q9HBI6 57834 CYP4F11 Homo sapiens 9606 EC 1.14.14.1 Y Y ECO:0000311 EC number UniProtKB AAP 11/28/2012 112 3300007832 Faith P78329 8529 CYP4F2 Homo sapiens 9606 Comment/subcellular location Endoplasmic reticulum membrane;Peripheral membrane protein endoplasmic reticulum membrane GO:0005789 SL-0097 Y Y ECO:0000311 UniProtKB AAP, DGA 11/28/2012 125 3300007834 Faith/Rose P78329 8529 CYP4F2 Homo sapiens 9606 Comment/subcellular location Microsome membrane;Peripheral membrane protein intracellular membrane-bounded organelle GO:0043231 SL-0165 Y Y ECO:0000311 UniProtKB AAP, DGA 11/28/2012 125 3300007835 Faith P78329 8529 CYP4F2 Homo sapiens 9606 Comment/tissue specificity Liver. liver BTO:0000759 Y Y ECO:0000311 UniProtKB AAP, DGA 11/28/2012 125 3300007836 Faith P78329 8529 CYP4F2 Homo sapiens 9606 Comment/tissue specificity Liver. liver UBERON:0002107 Y Y ECO:0000311 UniProtKB AAP, DGA 11/28/2012 125 3300007837 Faith P78329 8529 CYP4F2 Homo sapiens 9606 EC 1.14.13.30 Y Y ECO:0000311 EC number UniProtKB AAP, DGA 11/28/2012 125 3300007838 Faith Q6NT55 126410 CYP4F22 Homo sapiens 9606 Comment/Involvement in disease Defects in CYP4F22 are the cause of ichthyosis lamellar type 3 (LI3) [MIM:604777]. LI is a non-bullous ichthyosis, a skin disorder characterized by abnormal cornification of the epidermis. It is one the most severe forms of ichthyoses apparent at birth and persisting throughout life. LI patients are born encased in a tight, shiny, translucent covering called collodion membrane. Over the first weeks of life, the collodion membrane is gradually replaced by generalized large, dark brown, plate-like scales with minimal to no erythroderma. Tautness of facial skin commonly results in ectropion, eclabium and scarring alopecia of the scalp. Common complications are severe heat intolerance and recurrent ear infections. MIM:604777 congenital ichthyosis DOID:1695 The disease is caused by mutations affecting the gene represented in this entry. Y Y ECO:0000006 PubMed:16436457 UniProtKB http://purl.bioontology.org/ontology/ICD9CM/757.1 AAP 5/1/2013 87 3300007839 Faith Q6NT55 126410 CYP4F22 Homo sapiens 9606 Comment/Involvement in disease Defects in CYP4F22 are the cause of ichthyosis lamellar type 3 (LI3) [MIM:604777]. LI is a non-bullous ichthyosis, a skin disorder characterized by abnormal cornification of the epidermis. It is one the most severe forms of ichthyoses apparent at birth and persisting throughout life. LI patients are born encased in a tight, shiny, translucent covering called collodion membrane. Over the first weeks of life, the collodion membrane is gradually replaced by generalized large, dark brown, plate-like scales with minimal to no erythroderma. Tautness of facial skin commonly results in ectropion, eclabium and scarring alopecia of the scalp. Common complications are severe heat intolerance and recurrent ear infections. MIM:604777 Autosomal recessive ichthyosis SNOMEDCT:402772005 The disease is caused by mutations affecting the gene represented in this entry. Y Y ECO:0000006 PubMed:16436457 UniProtKB http://purl.bioontology.org/ontology/ICD9CM/757.1 AAP 5/1/2013 87 3300007840 Faith Q6NT55 126410 CYP4F22 Homo sapiens 9606 EC 1.14.14.- Y Y ECO:0000311 EC number UniProtKB AAP 11/28/2012 84 3300007843 Faith Q08477 4051 CYP4F3 Homo sapiens 9606 Comment/tissue specificity Expressed in the polymorphonuclear leukocytes as well as leukocytes. leukocyte BTO:0000751 leukocyte CL:0000738 Y Y ECO:0000311 UniProtKB No Uberon term AAP 11/28/2012 129 3300007844 Faith Q08477 4051 CYP4F3 Homo sapiens 9606 Comment/pathway Lipid metabolism; leukotriene B4 degradation. lipid metabolic process GO:0006629 UPA00436 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 129 3300007846 Faith Q08477 4051 CYP4F3 Homo sapiens 9606 Comment/tissue specificity Expressed in the polymorphonuclear leukocytes as well as leukocytes. polymorphonuclear leukocyte BTO:0001026 Y Y ECO:0000311 UniProtKB No Uberon term; polymorphonuclear leukocyte not in CL AAP 11/28/2012 129 3300007850 Faith Q08477 4051 CYP4F3 Homo sapiens 9606 EC 1.14.13.30 Y Y ECO:0000311 EC number UniProtKB AAP 11/28/2012 129 3300007851 Faith P98187 11283 CYP4F8 Homo sapiens 9606 Comment/function Hydroxylates arachidonic acid (20:4n-6) to (18R)-hydroxyarachidonate. Shows little activity against prostaglandin (PG) D2, PGE1, PGE2, PGF2alpha, and leukotriene B4. Catalyzes omega-2 and omega-3-hydroxylation of PGH1 and PGH2. Catalyzes epoxidation of 4,7,10,13,16,19-(Z)-docosahexaenoic acid (22:6n-3) and 7,10,13,16,19-(Z)-docosapentaenoic acid (22:5n-3) and omega-3-hydroxylation of 4,7,10,13,16-(Z)-docosapentaenoic acid (22:5n-6). Catalyzes hydroxylation of PGI2 and carbaprostacyclin. Y Y ECO:0000006 PubMed:10791960 PubMed:16112640 PubMed:15789615 UniProtKB AAP 2/6/2013 106 3300007852 Faith/Rose P98187 11283 CYP4F8 Homo sapiens 9606 Comment/subcellular location Microsome membrane intracellular membrane-bounded organelle GO:0043231 SL-0165 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 106 3300007854 Faith P98187 11283 CYP4F8 Homo sapiens 9606 Comment/tissue specificity Expressed in the epithelium of seminal vesicles, in renal cortex, in adult and fetal liver, in epidermis, in corneal epithelium, in sweat glands, hair follicles, epithelial linings of the ampulla of vas deferens and of the stomach and small intestine, as well as in the transitional epithelium of the bladder and ureter (at protein level). In the epidermis, expressed from the basal cell to the granular cell layers. In the corneal epithelium, expressed in all cell layers. Also detected in prostate. Up-regulated in the epidermis of psoriatic lesions. epidermis BTO:0000404 psoriasis DOID:8893 Y Y ECO:0000006 PubMed:15789615 PubMed:10405341 PubMed:12464258 UniProtKB upregulated, NOT in normal skin AAP 2/6/2013 106 3300007855 Faith P98187 11283 CYP4F8 Homo sapiens 9606 Comment/tissue specificity Expressed in the epithelium of seminal vesicles, in renal cortex, in adult and fetal liver, in epidermis, in corneal epithelium, in sweat glands, hair follicles, epithelial linings of the ampulla of vas deferens and of the stomach and small intestine, as well as in the transitional epithelium of the bladder and ureter (at protein level). In the epidermis, expressed from the basal cell to the granular cell layers. In the corneal epithelium, expressed in all cell layers. Also detected in prostate. Up-regulated in the epidermis of psoriatic lesions. epidermis UBERON:0001003 psoriasis DOID:8893 Y Y ECO:0000006 PubMed:15789615 PubMed:10405341 PubMed:12464258 UniProtKB upregulated, NOT in normal skin AAP 2/6/2013 106 3300007856 Faith P98187 11283 CYP4F8 Homo sapiens 9606 Comment/tissue specificity Expressed in the epithelium of seminal vesicles, in renal cortex, in adult and fetal liver, in epidermis, in corneal epithelium, in sweat glands, hair follicles, epithelial linings of the ampulla of vas deferens and of the stomach and small intestine, as well as in the transitional epithelium of the bladder and ureter (at protein level). In the epidermis, expressed from the basal cell to the granular cell layers. In the corneal epithelium, expressed in all cell layers. Also detected in prostate. Up-regulated in the epidermis of psoriatic lesions. liver BTO:0000759 Y Y ECO:0000006 PubMed:15789615 PubMed:10405341 PubMed:12464258 UniProtKB adult AAP 2/6/2013 106 3300007857 Faith P98187 11283 CYP4F8 Homo sapiens 9606 Comment/tissue specificity Expressed in the epithelium of seminal vesicles, in renal cortex, in adult and fetal liver, in epidermis, in corneal epithelium, in sweat glands, hair follicles, epithelial linings of the ampulla of vas deferens and of the stomach and small intestine, as well as in the transitional epithelium of the bladder and ureter (at protein level). In the epidermis, expressed from the basal cell to the granular cell layers. In the corneal epithelium, expressed in all cell layers. Also detected in prostate. Up-regulated in the epidermis of psoriatic lesions. liver UBERON:0002107 Y Y ECO:0000006 PubMed:15789615 PubMed:10405341 PubMed:12464258 UniProtKB adult AAP 2/6/2013 106 3300007858 Faith P98187 11283 CYP4F8 Homo sapiens 9606 Comment/tissue specificity Expressed in the epithelium of seminal vesicles, in renal cortex, in adult and fetal liver, in epidermis, in corneal epithelium, in sweat glands, hair follicles, epithelial linings of the ampulla of vas deferens and of the stomach and small intestine, as well as in the transitional epithelium of the bladder and ureter (at protein level). In the epidermis, expressed from the basal cell to the granular cell layers. In the corneal epithelium, expressed in all cell layers. Also detected in prostate. Up-regulated in the epidermis of psoriatic lesions. stratum basale BTO:0004680 Y Y ECO:0000006 PubMed:15789615 PubMed:10405341 PubMed:12464258 UniProtKB expanded to represent text AAP 2/6/2013 106 3300007859 Faith P98187 11283 CYP4F8 Homo sapiens 9606 Comment/tissue specificity Expressed in the epithelium of seminal vesicles, in renal cortex, in adult and fetal liver, in epidermis, in corneal epithelium, in sweat glands, hair follicles, epithelial linings of the ampulla of vas deferens and of the stomach and small intestine, as well as in the transitional epithelium of the bladder and ureter (at protein level). In the epidermis, expressed from the basal cell to the granular cell layers. In the corneal epithelium, expressed in all cell layers. Also detected in prostate. Up-regulated in the epidermis of psoriatic lesions. stratum basale of epidermis UBERON:0002025 Y Y ECO:0000006 PubMed:15789615 PubMed:10405341 PubMed:12464258 UniProtKB expanded to represent text AAP 2/6/2013 106 3300007860 Faith P98187 11283 CYP4F8 Homo sapiens 9606 Comment/tissue specificity Expressed in the epithelium of seminal vesicles, in renal cortex, in adult and fetal liver, in epidermis, in corneal epithelium, in sweat glands, hair follicles, epithelial linings of the ampulla of vas deferens and of the stomach and small intestine, as well as in the transitional epithelium of the bladder and ureter (at protein level). In the epidermis, expressed from the basal cell to the granular cell layers. In the corneal epithelium, expressed in all cell layers. Also detected in prostate. Up-regulated in the epidermis of psoriatic lesions. stratum granulosum BTO:0000361 Y Y ECO:0000006 PubMed:15789615 PubMed:10405341 PubMed:12464258 UniProtKB expanded to represent text AAP 2/6/2013 106 3300007861 Faith P98187 11283 CYP4F8 Homo sapiens 9606 Comment/tissue specificity Expressed in the epithelium of seminal vesicles, in renal cortex, in adult and fetal liver, in epidermis, in corneal epithelium, in sweat glands, hair follicles, epithelial linings of the ampulla of vas deferens and of the stomach and small intestine, as well as in the transitional epithelium of the bladder and ureter (at protein level). In the epidermis, expressed from the basal cell to the granular cell layers. In the corneal epithelium, expressed in all cell layers. Also detected in prostate. Up-regulated in the epidermis of psoriatic lesions. stratum granulosum of epidermis UBERON:0002069 Y Y ECO:0000006 PubMed:15789615 PubMed:10405341 PubMed:12464258 UniProtKB expanded to represent text AAP 2/6/2013 106 3300007862 Faith P98187 11283 CYP4F8 Homo sapiens 9606 Comment/tissue specificity Expressed in the epithelium of seminal vesicles, in renal cortex, in adult and fetal liver, in epidermis, in corneal epithelium, in sweat glands, hair follicles, epithelial linings of the ampulla of vas deferens and of the stomach and small intestine, as well as in the transitional epithelium of the bladder and ureter (at protein level). In the epidermis, expressed from the basal cell to the granular cell layers. In the corneal epithelium, expressed in all cell layers. Also detected in prostate. Up-regulated in the epidermis of psoriatic lesions. stratum spinosum BTO:0000435 Y Y ECO:0000006 PubMed:15789615 PubMed:10405341 PubMed:12464258 UniProtKB expanded to represent text AAP 2/6/2013 106 3300007863 Faith P98187 11283 CYP4F8 Homo sapiens 9606 Comment/tissue specificity Expressed in the epithelium of seminal vesicles, in renal cortex, in adult and fetal liver, in epidermis, in corneal epithelium, in sweat glands, hair follicles, epithelial linings of the ampulla of vas deferens and of the stomach and small intestine, as well as in the transitional epithelium of the bladder and ureter (at protein level). In the epidermis, expressed from the basal cell to the granular cell layers. In the corneal epithelium, expressed in all cell layers. Also detected in prostate. Up-regulated in the epidermis of psoriatic lesions. stratum spinosum of epidermis UBERON:0002026 Y Y ECO:0000006 PubMed:15789615 PubMed:10405341 PubMed:12464258 UniProtKB expanded to represent text AAP 2/6/2013 106 3300007864 Faith P98187 11283 CYP4F8 Homo sapiens 9606 Comment/tissue specificity Expressed in the epithelium of seminal vesicles, in renal cortex, in adult and fetal liver, in epidermis, in corneal epithelium, in sweat glands, hair follicles, epithelial linings of the ampulla of vas deferens and of the stomach and small intestine, as well as in the transitional epithelium of the bladder and ureter (at protein level). In the epidermis, expressed from the basal cell to the granular cell layers. In the corneal epithelium, expressed in all cell layers. Also detected in prostate. Up-regulated in the epidermis of psoriatic lesions. corneal epithelium BTO:0000287 Y Y ECO:0000006 PubMed:15789615 PubMed:10405341 PubMed:12464258 UniProtKB expressed in all cell layers AAP 2/6/2013 106 3300007865 Faith P98187 11283 CYP4F8 Homo sapiens 9606 Comment/tissue specificity Expressed in the epithelium of seminal vesicles, in renal cortex, in adult and fetal liver, in epidermis, in corneal epithelium, in sweat glands, hair follicles, epithelial linings of the ampulla of vas deferens and of the stomach and small intestine, as well as in the transitional epithelium of the bladder and ureter (at protein level). In the epidermis, expressed from the basal cell to the granular cell layers. In the corneal epithelium, expressed in all cell layers. Also detected in prostate. Up-regulated in the epidermis of psoriatic lesions. corneal epithelium UBERON:0001772 Y Y ECO:0000006 PubMed:15789615 PubMed:10405341 PubMed:12464258 UniProtKB expressed in all cell layers AAP 2/6/2013 106 3300007866 Faith P98187 11283 CYP4F8 Homo sapiens 9606 Comment/tissue specificity Expressed in the epithelium of seminal vesicles, in renal cortex, in adult and fetal liver, in epidermis, in corneal epithelium, in sweat glands, hair follicles, epithelial linings of the ampulla of vas deferens and of the stomach and small intestine, as well as in the transitional epithelium of the bladder and ureter (at protein level). In the epidermis, expressed from the basal cell to the granular cell layers. In the corneal epithelium, expressed in all cell layers. Also detected in prostate. Up-regulated in the epidermis of psoriatic lesions. liver BTO:0000759 Y Y ECO:0000006 PubMed:15789615 PubMed:10405341 PubMed:12464258 UniProtKB fetal AAP 2/6/2013 106 3300007867 Faith P98187 11283 CYP4F8 Homo sapiens 9606 Comment/tissue specificity Expressed in the epithelium of seminal vesicles, in renal cortex, in adult and fetal liver, in epidermis, in corneal epithelium, in sweat glands, hair follicles, epithelial linings of the ampulla of vas deferens and of the stomach and small intestine, as well as in the transitional epithelium of the bladder and ureter (at protein level). In the epidermis, expressed from the basal cell to the granular cell layers. In the corneal epithelium, expressed in all cell layers. Also detected in prostate. Up-regulated in the epidermis of psoriatic lesions. liver UBERON:0002107 Y Y ECO:0000006 PubMed:15789615 PubMed:10405341 PubMed:12464258 UniProtKB fetal AAP 2/6/2013 106 3300007868 Faith P98187 11283 CYP4F8 Homo sapiens 9606 Comment/tissue specificity Expressed in the epithelium of seminal vesicles, in renal cortex, in adult and fetal liver, in epidermis, in corneal epithelium, in sweat glands, hair follicles, epithelial linings of the ampulla of vas deferens and of the stomach and small intestine, as well as in the transitional epithelium of the bladder and ureter (at protein level). In the epidermis, expressed from the basal cell to the granular cell layers. In the corneal epithelium, expressed in all cell layers. Also detected in prostate. Up-regulated in the epidermis of psoriatic lesions. small intestine epithelium BTO:0001258 Y Y ECO:0000006 PubMed:15789615 PubMed:10405341 PubMed:12464258 UniProtKB Or 'epithelial lining of small intestine' AAP 2/6/2013 106 3300007869 Faith P98187 11283 CYP4F8 Homo sapiens 9606 Comment/tissue specificity Expressed in the epithelium of seminal vesicles, in renal cortex, in adult and fetal liver, in epidermis, in corneal epithelium, in sweat glands, hair follicles, epithelial linings of the ampulla of vas deferens and of the stomach and small intestine, as well as in the transitional epithelium of the bladder and ureter (at protein level). In the epidermis, expressed from the basal cell to the granular cell layers. In the corneal epithelium, expressed in all cell layers. Also detected in prostate. Up-regulated in the epidermis of psoriatic lesions. epithelium of small intestine UBERON:0001902 Y Y ECO:0000006 PubMed:15789615 PubMed:10405341 PubMed:12464258 UniProtKB Or 'epithelial lining of small intestine' AAP 2/6/2013 106 3300007870 Faith P98187 11283 CYP4F8 Homo sapiens 9606 Comment/tissue specificity Expressed in the epithelium of seminal vesicles, in renal cortex, in adult and fetal liver, in epidermis, in corneal epithelium, in sweat glands, hair follicles, epithelial linings of the ampulla of vas deferens and of the stomach and small intestine, as well as in the transitional epithelium of the bladder and ureter (at protein level). In the epidermis, expressed from the basal cell to the granular cell layers. In the corneal epithelium, expressed in all cell layers. Also detected in prostate. Up-regulated in the epidermis of psoriatic lesions. seminal vesicle BTO:0001234 Y Y ECO:0000006 PubMed:15789615 PubMed:10405341 PubMed:12464258 UniProtKB Uberon term is more specific. AAP 2/6/2013 106 3300007871 Faith P98187 11283 CYP4F8 Homo sapiens 9606 Comment/tissue specificity Expressed in the epithelium of seminal vesicles, in renal cortex, in adult and fetal liver, in epidermis, in corneal epithelium, in sweat glands, hair follicles, epithelial linings of the ampulla of vas deferens and of the stomach and small intestine, as well as in the transitional epithelium of the bladder and ureter (at protein level). In the epidermis, expressed from the basal cell to the granular cell layers. In the corneal epithelium, expressed in all cell layers. Also detected in prostate. Up-regulated in the epidermis of psoriatic lesions. seminal vesicle epithelium UBERON:0004805 Y Y ECO:0000006 PubMed:15789615 PubMed:10405341 PubMed:12464258 UniProtKB Uberon term is more specific. AAP 2/6/2013 106 3300007872 Faith P98187 11283 CYP4F8 Homo sapiens 9606 Comment/tissue specificity Expressed in the epithelium of seminal vesicles, in renal cortex, in adult and fetal liver, in epidermis, in corneal epithelium, in sweat glands, hair follicles, epithelial linings of the ampulla of vas deferens and of the stomach and small intestine, as well as in the transitional epithelium of the bladder and ureter (at protein level). In the epidermis, expressed from the basal cell to the granular cell layers. In the corneal epithelium, expressed in all cell layers. Also detected in prostate. Up-regulated in the epidermis of psoriatic lesions. vas deferens BTO:0001427 Y Y ECO:0000006 PubMed:15789615 PubMed:10405341 PubMed:12464258 UniProtKB Uberon term is more specific. AAP 2/6/2013 106 3300007873 Faith P98187 11283 CYP4F8 Homo sapiens 9606 Comment/tissue specificity Expressed in the epithelium of seminal vesicles, in renal cortex, in adult and fetal liver, in epidermis, in corneal epithelium, in sweat glands, hair follicles, epithelial linings of the ampulla of vas deferens and of the stomach and small intestine, as well as in the transitional epithelium of the bladder and ureter (at protein level). In the epidermis, expressed from the basal cell to the granular cell layers. In the corneal epithelium, expressed in all cell layers. Also detected in prostate. Up-regulated in the epidermis of psoriatic lesions. vas deferens epithelium UBERON:0004806 Y Y ECO:0000006 PubMed:15789615 PubMed:10405341 PubMed:12464258 UniProtKB Uberon term is more specific. AAP 2/6/2013 106 3300007874 Faith P98187 11283 CYP4F8 Homo sapiens 9606 Comment/tissue specificity Expressed in the epithelium of seminal vesicles, in renal cortex, in adult and fetal liver, in epidermis, in corneal epithelium, in sweat glands, hair follicles, epithelial linings of the ampulla of vas deferens and of the stomach and small intestine, as well as in the transitional epithelium of the bladder and ureter (at protein level). In the epidermis, expressed from the basal cell to the granular cell layers. In the corneal epithelium, expressed in all cell layers. Also detected in prostate. Up-regulated in the epidermis of psoriatic lesions. uroepithelium BTO:0003906 Y Y ECO:0000006 PubMed:15789615 PubMed:10405341 PubMed:12464258 UniProtKB Uroepithelium exist in BRENDA, but does have bladder-specific AAP 2/6/2013 106 3300007875 Faith P98187 11283 CYP4F8 Homo sapiens 9606 Comment/tissue specificity Expressed in the epithelium of seminal vesicles, in renal cortex, in adult and fetal liver, in epidermis, in corneal epithelium, in sweat glands, hair follicles, epithelial linings of the ampulla of vas deferens and of the stomach and small intestine, as well as in the transitional epithelium of the bladder and ureter (at protein level). In the epidermis, expressed from the basal cell to the granular cell layers. In the corneal epithelium, expressed in all cell layers. Also detected in prostate. Up-regulated in the epidermis of psoriatic lesions. urinary bladder urothelium UBERON:0004645 Y Y ECO:0000006 PubMed:15789615 PubMed:10405341 PubMed:12464258 UniProtKB Uroepithelium exist in BRENDA, but does have bladder-specific AAP 2/6/2013 106 3300007876 Faith P98187 11283 CYP4F8 Homo sapiens 9606 Comment/tissue specificity Expressed in the epithelium of seminal vesicles, in renal cortex, in adult and fetal liver, in epidermis, in corneal epithelium, in sweat glands, hair follicles, epithelial linings of the ampulla of vas deferens and of the stomach and small intestine, as well as in the transitional epithelium of the bladder and ureter (at protein level). In the epidermis, expressed from the basal cell to the granular cell layers. In the corneal epithelium, expressed in all cell layers. Also detected in prostate. Up-regulated in the epidermis of psoriatic lesions. urothelium of ureter UBERON:0001254 Y Y ECO:0000006 PubMed:15789615 PubMed:10405341 PubMed:12464258 UniProtKB Uroepithelium exist in BRENDA, but does have bladder-specific AAP 2/6/2013 106 3300007877 Faith P98187 11283 CYP4F8 Homo sapiens 9606 Comment/tissue specificity Expressed in the epithelium of seminal vesicles, in renal cortex, in adult and fetal liver, in epidermis, in corneal epithelium, in sweat glands, hair follicles, epithelial linings of the ampulla of vas deferens and of the stomach and small intestine, as well as in the transitional epithelium of the bladder and ureter (at protein level). In the epidermis, expressed from the basal cell to the granular cell layers. In the corneal epithelium, expressed in all cell layers. Also detected in prostate. Up-regulated in the epidermis of psoriatic lesions. gastric epithelium BTO:0000500 Y Y ECO:0000006 PubMed:15789615 PubMed:10405341 PubMed:12464258 UniProtKB Use 'epithelium of stomach'? AAP 2/6/2013 106 3300007878 Faith P98187 11283 CYP4F8 Homo sapiens 9606 Comment/tissue specificity Expressed in the epithelium of seminal vesicles, in renal cortex, in adult and fetal liver, in epidermis, in corneal epithelium, in sweat glands, hair follicles, epithelial linings of the ampulla of vas deferens and of the stomach and small intestine, as well as in the transitional epithelium of the bladder and ureter (at protein level). In the epidermis, expressed from the basal cell to the granular cell layers. In the corneal epithelium, expressed in all cell layers. Also detected in prostate. Up-regulated in the epidermis of psoriatic lesions. epithelium of stomach UBERON:0001276 Y Y ECO:0000006 PubMed:15789615 PubMed:10405341 PubMed:12464258 UniProtKB Use 'epithelium of stomach'? AAP 2/6/2013 106 3300007879 Faith P98187 11283 CYP4F8 Homo sapiens 9606 Comment/tissue specificity Expressed in the epithelium of seminal vesicles, in renal cortex, in adult and fetal liver, in epidermis, in corneal epithelium, in sweat glands, hair follicles, epithelial linings of the ampulla of vas deferens and of the stomach and small intestine, as well as in the transitional epithelium of the bladder and ureter (at protein level). In the epidermis, expressed from the basal cell to the granular cell layers. In the corneal epithelium, expressed in all cell layers. Also detected in prostate. Up-regulated in the epidermis of psoriatic lesions. corneal epithelium BTO:0000287 Y Y ECO:0000006 PubMed:15789615 PubMed:10405341 PubMed:12464258 UniProtKB AAP 2/6/2013 106 3300007880 Faith P98187 11283 CYP4F8 Homo sapiens 9606 Comment/tissue specificity Expressed in the epithelium of seminal vesicles, in renal cortex, in adult and fetal liver, in epidermis, in corneal epithelium, in sweat glands, hair follicles, epithelial linings of the ampulla of vas deferens and of the stomach and small intestine, as well as in the transitional epithelium of the bladder and ureter (at protein level). In the epidermis, expressed from the basal cell to the granular cell layers. In the corneal epithelium, expressed in all cell layers. Also detected in prostate. Up-regulated in the epidermis of psoriatic lesions. corneal epithelium UBERON:0001772 Y Y ECO:0000006 PubMed:15789615 PubMed:10405341 PubMed:12464258 UniProtKB AAP 2/6/2013 106 3300007881 Faith P98187 11283 CYP4F8 Homo sapiens 9606 Comment/tissue specificity Expressed in the epithelium of seminal vesicles, in renal cortex, in adult and fetal liver, in epidermis, in corneal epithelium, in sweat glands, hair follicles, epithelial linings of the ampulla of vas deferens and of the stomach and small intestine, as well as in the transitional epithelium of the bladder and ureter (at protein level). In the epidermis, expressed from the basal cell to the granular cell layers. In the corneal epithelium, expressed in all cell layers. Also detected in prostate. Up-regulated in the epidermis of psoriatic lesions. epidermis BTO:0000404 Y Y ECO:0000006 PubMed:15789615 PubMed:10405341 PubMed:12464258 UniProtKB AAP 2/6/2013 106 3300007882 Faith P98187 11283 CYP4F8 Homo sapiens 9606 Comment/tissue specificity Expressed in the epithelium of seminal vesicles, in renal cortex, in adult and fetal liver, in epidermis, in corneal epithelium, in sweat glands, hair follicles, epithelial linings of the ampulla of vas deferens and of the stomach and small intestine, as well as in the transitional epithelium of the bladder and ureter (at protein level). In the epidermis, expressed from the basal cell to the granular cell layers. In the corneal epithelium, expressed in all cell layers. Also detected in prostate. Up-regulated in the epidermis of psoriatic lesions. epidermis UBERON:0001003 Y Y ECO:0000006 PubMed:15789615 PubMed:10405341 PubMed:12464258 UniProtKB AAP 2/6/2013 106 3300007883 Faith P98187 11283 CYP4F8 Homo sapiens 9606 Comment/tissue specificity Expressed in the epithelium of seminal vesicles, in renal cortex, in adult and fetal liver, in epidermis, in corneal epithelium, in sweat glands, hair follicles, epithelial linings of the ampulla of vas deferens and of the stomach and small intestine, as well as in the transitional epithelium of the bladder and ureter (at protein level). In the epidermis, expressed from the basal cell to the granular cell layers. In the corneal epithelium, expressed in all cell layers. Also detected in prostate. Up-regulated in the epidermis of psoriatic lesions. hair follicle BTO:0000554 Y Y ECO:0000006 PubMed:15789615 PubMed:10405341 PubMed:12464258 UniProtKB AAP 2/6/2013 106 3300007884 Faith P98187 11283 CYP4F8 Homo sapiens 9606 Comment/tissue specificity Expressed in the epithelium of seminal vesicles, in renal cortex, in adult and fetal liver, in epidermis, in corneal epithelium, in sweat glands, hair follicles, epithelial linings of the ampulla of vas deferens and of the stomach and small intestine, as well as in the transitional epithelium of the bladder and ureter (at protein level). In the epidermis, expressed from the basal cell to the granular cell layers. In the corneal epithelium, expressed in all cell layers. Also detected in prostate. Up-regulated in the epidermis of psoriatic lesions. hair follicle UBERON:0002073 Y Y ECO:0000006 PubMed:15789615 PubMed:10405341 PubMed:12464258 UniProtKB AAP 2/6/2013 106 3300007885 Faith P98187 11283 CYP4F8 Homo sapiens 9606 Comment/tissue specificity Expressed in the epithelium of seminal vesicles, in renal cortex, in adult and fetal liver, in epidermis, in corneal epithelium, in sweat glands, hair follicles, epithelial linings of the ampulla of vas deferens and of the stomach and small intestine, as well as in the transitional epithelium of the bladder and ureter (at protein level). In the epidermis, expressed from the basal cell to the granular cell layers. In the corneal epithelium, expressed in all cell layers. Also detected in prostate. Up-regulated in the epidermis of psoriatic lesions. prostate gland BTO:0001129 Y Y ECO:0000006 PubMed:15789615 PubMed:10405341 PubMed:12464258 UniProtKB AAP 2/6/2013 106 3300007886 Faith P98187 11283 CYP4F8 Homo sapiens 9606 Comment/tissue specificity Expressed in the epithelium of seminal vesicles, in renal cortex, in adult and fetal liver, in epidermis, in corneal epithelium, in sweat glands, hair follicles, epithelial linings of the ampulla of vas deferens and of the stomach and small intestine, as well as in the transitional epithelium of the bladder and ureter (at protein level). In the epidermis, expressed from the basal cell to the granular cell layers. In the corneal epithelium, expressed in all cell layers. Also detected in prostate. Up-regulated in the epidermis of psoriatic lesions. prostate gland UBERON:0002367 Y Y ECO:0000006 PubMed:15789615 PubMed:10405341 PubMed:12464258 UniProtKB AAP 2/6/2013 106 3300007887 Faith P98187 11283 CYP4F8 Homo sapiens 9606 Comment/tissue specificity Expressed in the epithelium of seminal vesicles, in renal cortex, in adult and fetal liver, in epidermis, in corneal epithelium, in sweat glands, hair follicles, epithelial linings of the ampulla of vas deferens and of the stomach and small intestine, as well as in the transitional epithelium of the bladder and ureter (at protein level). In the epidermis, expressed from the basal cell to the granular cell layers. In the corneal epithelium, expressed in all cell layers. Also detected in prostate. Up-regulated in the epidermis of psoriatic lesions. renal cortex BTO:0001166 Y Y ECO:0000006 PubMed:15789615 PubMed:10405341 PubMed:12464258 UniProtKB AAP 2/6/2013 106 3300007888 Faith P98187 11283 CYP4F8 Homo sapiens 9606 Comment/tissue specificity Expressed in the epithelium of seminal vesicles, in renal cortex, in adult and fetal liver, in epidermis, in corneal epithelium, in sweat glands, hair follicles, epithelial linings of the ampulla of vas deferens and of the stomach and small intestine, as well as in the transitional epithelium of the bladder and ureter (at protein level). In the epidermis, expressed from the basal cell to the granular cell layers. In the corneal epithelium, expressed in all cell layers. Also detected in prostate. Up-regulated in the epidermis of psoriatic lesions. cortex of kidney UBERON:0001225 Y Y ECO:0000006 PubMed:15789615 PubMed:10405341 PubMed:12464258 UniProtKB AAP 2/6/2013 106 3300007889 Faith P98187 11283 CYP4F8 Homo sapiens 9606 Comment/tissue specificity Expressed in the epithelium of seminal vesicles, in renal cortex, in adult and fetal liver, in epidermis, in corneal epithelium, in sweat glands, hair follicles, epithelial linings of the ampulla of vas deferens and of the stomach and small intestine, as well as in the transitional epithelium of the bladder and ureter (at protein level). In the epidermis, expressed from the basal cell to the granular cell layers. In the corneal epithelium, expressed in all cell layers. Also detected in prostate. Up-regulated in the epidermis of psoriatic lesions. sweat gland BTO:0001331 Y Y ECO:0000006 PubMed:15789615 PubMed:10405341 PubMed:12464258 UniProtKB AAP 2/6/2013 106 3300007890 Faith P98187 11283 CYP4F8 Homo sapiens 9606 Comment/tissue specificity Expressed in the epithelium of seminal vesicles, in renal cortex, in adult and fetal liver, in epidermis, in corneal epithelium, in sweat glands, hair follicles, epithelial linings of the ampulla of vas deferens and of the stomach and small intestine, as well as in the transitional epithelium of the bladder and ureter (at protein level). In the epidermis, expressed from the basal cell to the granular cell layers. In the corneal epithelium, expressed in all cell layers. Also detected in prostate. Up-regulated in the epidermis of psoriatic lesions. sweat gland UBERON:0001820 Y Y ECO:0000006 PubMed:15789615 PubMed:10405341 PubMed:12464258 UniProtKB AAP 2/6/2013 106 3300007891 Faith P98187 11283 CYP4F8 Homo sapiens 9606 EC 1.14.14.1 Y Y ECO:0000311 EC number UniProtKB AAP 2/6/2013 106 3300007892 Katie Q9Y271 10800 CYSLTR1 Homo sapiens 9606 Comment/subcellular location Cell membrane;Multi-pass membrane protein plasma membrane GO:0005886 SL-0039 Y Y ECO:0000311 UniProtKB AAP, DGA 1/9/2013 103 3300007897 Katie Q9Y271 10800 CYSLTR1 Homo sapiens 9606 Comment/tissue specificity Widely expressed, with highest levels in spleen and peripheral blood leukocytes. Lower expression in several tissues, such as lung (mostly in smooth muscle bundles and alveolar macrophages), placenta, small intestine, pancreas, colon and heart. alveolar macrophage BTO:0000802 Y Y ECO:0000311 UniProtKB No Uberon term; alveolar macrophages AAP, DGA 1/9/2013 103 3300007899 Katie Q9Y271 10800 CYSLTR1 Homo sapiens 9606 Comment/tissue specificity Widely expressed, with highest levels in spleen and peripheral blood leukocytes. Lower expression in several tissues, such as lung (mostly in smooth muscle bundles and alveolar macrophages), placenta, small intestine, pancreas, colon and heart. leukocyte BTO:0000751 Y Y ECO:0000311 UniProtKB No Uberon term; peripheral blood leukocytes AAP, DGA 1/9/2013 103 3300007900 Katie/Faith Q9Y271 10800 CYSLTR1 Homo sapiens 9606 Comment/tissue specificity Widely expressed, with highest levels in spleen and peripheral blood leukocytes. Lower expression in several tissues, such as lung (mostly in smooth muscle bundles and alveolar macrophages), placenta, small intestine, pancreas, colon and heart. colon BTO:0000269 Y Y ECO:0000311 UniProtKB AAP, DGA 1/9/2013 103 3300007902 Katie/Faith Q9Y271 10800 CYSLTR1 Homo sapiens 9606 Comment/tissue specificity Widely expressed, with highest levels in spleen and peripheral blood leukocytes. Lower expression in several tissues, such as lung (mostly in smooth muscle bundles and alveolar macrophages), placenta, small intestine, pancreas, colon and heart. colon UBERON:0001155 Y Y ECO:0000311 UniProtKB AAP, DGA 1/9/2013 103 3300007903 Katie/Faith Q9Y271 10800 CYSLTR1 Homo sapiens 9606 Comment/tissue specificity Widely expressed, with highest levels in spleen and peripheral blood leukocytes. Lower expression in several tissues, such as lung (mostly in smooth muscle bundles and alveolar macrophages), placenta, small intestine, pancreas, colon and heart. heart BTO:0000562 Y Y ECO:0000311 UniProtKB AAP, DGA 1/9/2013 103 3300007904 Katie/Faith Q9Y271 10800 CYSLTR1 Homo sapiens 9606 Comment/tissue specificity Widely expressed, with highest levels in spleen and peripheral blood leukocytes. Lower expression in several tissues, such as lung (mostly in smooth muscle bundles and alveolar macrophages), placenta, small intestine, pancreas, colon and heart. heart UBERON:0000948 Y Y ECO:0000311 UniProtKB AAP, DGA 1/9/2013 103 3300007905 Katie/Faith Q9Y271 10800 CYSLTR1 Homo sapiens 9606 Comment/tissue specificity Widely expressed, with highest levels in spleen and peripheral blood leukocytes. Lower expression in several tissues, such as lung (mostly in smooth muscle bundles and alveolar macrophages), placenta, small intestine, pancreas, colon and heart. lung BTO:0000763 Y Y ECO:0000311 UniProtKB AAP, DGA 1/9/2013 103 3300007906 Katie/Faith Q9Y271 10800 CYSLTR1 Homo sapiens 9606 Comment/tissue specificity Widely expressed, with highest levels in spleen and peripheral blood leukocytes. Lower expression in several tissues, such as lung (mostly in smooth muscle bundles and alveolar macrophages), placenta, small intestine, pancreas, colon and heart. lung UBERON:0002048 Y Y ECO:0000311 UniProtKB AAP, DGA 1/9/2013 103 3300007907 Katie/Faith Q9Y271 10800 CYSLTR1 Homo sapiens 9606 Comment/tissue specificity Widely expressed, with highest levels in spleen and peripheral blood leukocytes. Lower expression in several tissues, such as lung (mostly in smooth muscle bundles and alveolar macrophages), placenta, small intestine, pancreas, colon and heart. pancreas BTO:0000988 Y Y ECO:0000311 UniProtKB AAP, DGA 1/9/2013 103 3300007908 Katie/Faith Q9Y271 10800 CYSLTR1 Homo sapiens 9606 Comment/tissue specificity Widely expressed, with highest levels in spleen and peripheral blood leukocytes. Lower expression in several tissues, such as lung (mostly in smooth muscle bundles and alveolar macrophages), placenta, small intestine, pancreas, colon and heart. pancreas UBERON:0001264 Y Y ECO:0000311 UniProtKB AAP, DGA 1/9/2013 103 3300007909 Katie/Faith Q9Y271 10800 CYSLTR1 Homo sapiens 9606 Comment/tissue specificity Widely expressed, with highest levels in spleen and peripheral blood leukocytes. Lower expression in several tissues, such as lung (mostly in smooth muscle bundles and alveolar macrophages), placenta, small intestine, pancreas, colon and heart. placenta BTO:0001078 Y Y ECO:0000311 UniProtKB AAP, DGA 1/9/2013 103 3300007910 Katie/Faith Q9Y271 10800 CYSLTR1 Homo sapiens 9606 Comment/tissue specificity Widely expressed, with highest levels in spleen and peripheral blood leukocytes. Lower expression in several tissues, such as lung (mostly in smooth muscle bundles and alveolar macrophages), placenta, small intestine, pancreas, colon and heart. placenta UBERON:0001987 Y Y ECO:0000311 UniProtKB AAP, DGA 1/9/2013 103 3300007911 Katie/Faith Q9Y271 10800 CYSLTR1 Homo sapiens 9606 Comment/tissue specificity Widely expressed, with highest levels in spleen and peripheral blood leukocytes. Lower expression in several tissues, such as lung (mostly in smooth muscle bundles and alveolar macrophages), placenta, small intestine, pancreas, colon and heart. small intestine BTO:0000651 Y Y ECO:0000311 UniProtKB AAP, DGA 1/9/2013 103 3300007912 Katie/Faith Q9Y271 10800 CYSLTR1 Homo sapiens 9606 Comment/tissue specificity Widely expressed, with highest levels in spleen and peripheral blood leukocytes. Lower expression in several tissues, such as lung (mostly in smooth muscle bundles and alveolar macrophages), placenta, small intestine, pancreas, colon and heart. small intestine UBERON:0002108 Y Y ECO:0000311 UniProtKB AAP, DGA 1/9/2013 103 3300007913 Katie Q9Y271 10800 CYSLTR1 Homo sapiens 9606 Comment/tissue specificity Widely expressed, with highest levels in spleen and peripheral blood leukocytes. Lower expression in several tissues, such as lung (mostly in smooth muscle bundles and alveolar macrophages), placenta, small intestine, pancreas, colon and heart. spleen BTO:0001281 Y Y ECO:0000311 UniProtKB AAP, DGA 1/9/2013 103 3300007914 Katie Q9Y271 10800 CYSLTR1 Homo sapiens 9606 Comment/tissue specificity Widely expressed, with highest levels in spleen and peripheral blood leukocytes. Lower expression in several tissues, such as lung (mostly in smooth muscle bundles and alveolar macrophages), placenta, small intestine, pancreas, colon and heart. spleen UBERON:0002106 Y Y ECO:0000311 UniProtKB AAP, DGA 1/9/2013 103 3300007915 Katie Q9NS75 57105 CYSLTR2 Homo sapiens 9606 Comment/subcellular location Cell membrane;Multi-pass membrane protein plasma membrane GO:0005886 SL-0039 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 107 3300007917 Katie Q9NS75 57105 CYSLTR2 Homo sapiens 9606 Comment/tissue specificity Widely expressed, with highest levels in the heart, placenta, spleen, peripheral blood leukocytes and adrenal gland. In lung, expressed in the interstitial macrophages, and slightly in smooth muscle cells. macrophage BTO:0000801 Y Y ECO:0000311 UniProtKB No Uberon term; expressed in the interstitial macrophages AAP 1/9/2013 107 3300007918 Katie Q9NS75 57105 CYSLTR2 Homo sapiens 9606 Comment/tissue specificity Widely expressed, with highest levels in the heart, placenta, spleen, peripheral blood leukocytes and adrenal gland. In lung, expressed in the interstitial macrophages, and slightly in smooth muscle cells. leukocyte BTO:0000751 Y Y ECO:0000311 UniProtKB No Uberon term; peripheral blood leukocytes AAP 1/9/2013 107 3300007919 Katie Q9NS75 57105 CYSLTR2 Homo sapiens 9606 Comment/tissue specificity Widely expressed, with highest levels in the heart, placenta, spleen, peripheral blood leukocytes and adrenal gland. In lung, expressed in the interstitial macrophages, and slightly in smooth muscle cells. adrenal gland BTO:0000047 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 107 3300007921 Katie Q9NS75 57105 CYSLTR2 Homo sapiens 9606 Comment/tissue specificity Widely expressed, with highest levels in the heart, placenta, spleen, peripheral blood leukocytes and adrenal gland. In lung, expressed in the interstitial macrophages, and slightly in smooth muscle cells. adrenal gland UBERON:0002369 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 107 3300007922 Katie Q9NS75 57105 CYSLTR2 Homo sapiens 9606 Comment/tissue specificity Widely expressed, with highest levels in the heart, placenta, spleen, peripheral blood leukocytes and adrenal gland. In lung, expressed in the interstitial macrophages, and slightly in smooth muscle cells. heart BTO:0000562 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 107 3300007923 Katie Q9NS75 57105 CYSLTR2 Homo sapiens 9606 Comment/tissue specificity Widely expressed, with highest levels in the heart, placenta, spleen, peripheral blood leukocytes and adrenal gland. In lung, expressed in the interstitial macrophages, and slightly in smooth muscle cells. heart UBERON:0000948 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 107 3300007924 Katie Q9NS75 57105 CYSLTR2 Homo sapiens 9606 Comment/tissue specificity Widely expressed, with highest levels in the heart, placenta, spleen, peripheral blood leukocytes and adrenal gland. In lung, expressed in the interstitial macrophages, and slightly in smooth muscle cells. lung BTO:0000763 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 107 3300007925 Katie Q9NS75 57105 CYSLTR2 Homo sapiens 9606 Comment/tissue specificity Widely expressed, with highest levels in the heart, placenta, spleen, peripheral blood leukocytes and adrenal gland. In lung, expressed in the interstitial macrophages, and slightly in smooth muscle cells. lung UBERON:0002048 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 107 3300007926 Katie Q9NS75 57105 CYSLTR2 Homo sapiens 9606 Comment/tissue specificity Widely expressed, with highest levels in the heart, placenta, spleen, peripheral blood leukocytes and adrenal gland. In lung, expressed in the interstitial macrophages, and slightly in smooth muscle cells. placenta BTO:0001078 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 107 3300007927 Katie Q9NS75 57105 CYSLTR2 Homo sapiens 9606 Comment/tissue specificity Widely expressed, with highest levels in the heart, placenta, spleen, peripheral blood leukocytes and adrenal gland. In lung, expressed in the interstitial macrophages, and slightly in smooth muscle cells. placenta UBERON:0001987 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 107 3300007928 Katie Q9NS75 57105 CYSLTR2 Homo sapiens 9606 Comment/tissue specificity Widely expressed, with highest levels in the heart, placenta, spleen, peripheral blood leukocytes and adrenal gland. In lung, expressed in the interstitial macrophages, and slightly in smooth muscle cells. smooth muscle BTO:0001260 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 107 3300007929 Katie Q9NS75 57105 CYSLTR2 Homo sapiens 9606 Comment/tissue specificity Widely expressed, with highest levels in the heart, placenta, spleen, peripheral blood leukocytes and adrenal gland. In lung, expressed in the interstitial macrophages, and slightly in smooth muscle cells. smooth muscle tissue UBERON:0001135 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 107 3300007930 Katie Q9NS75 57105 CYSLTR2 Homo sapiens 9606 Comment/tissue specificity Widely expressed, with highest levels in the heart, placenta, spleen, peripheral blood leukocytes and adrenal gland. In lung, expressed in the interstitial macrophages, and slightly in smooth muscle cells. spleen BTO:0001281 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 107 3300007931 Katie Q9NS75 57105 CYSLTR2 Homo sapiens 9606 Comment/tissue specificity Widely expressed, with highest levels in the heart, placenta, spleen, peripheral blood leukocytes and adrenal gland. In lung, expressed in the interstitial macrophages, and slightly in smooth muscle cells. spleen UBERON:0002106 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 107 3300007932 Katie P16444 1800 DPEP1 Homo sapiens 9606 Comment/subcellular location Apical cell membrane;GPI-anchor apical plasma membrane GO:0016324 SL-0015 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 143 3300007934 Katie P16444 1800 DPEP1 Homo sapiens 9606 Comment/subcellular location Brush border membrane. brush border membrane GO:0031526 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 143 3300007935 Katie P16444 1800 DPEP1 Homo sapiens 9606 Comment/subcellular location Microvillus membrane;GPI-anchor microvillus membrane GO:0031528 SL-0294 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 143 3300007936 Katie P16444 1800 DPEP1 Homo sapiens 9606 EC 3.4.13.19 Y Y ECO:0000311 EC number UniProtKB AAP 2/6/2013 143 3300007937 Katie Q9H4A9 64174 DPEP2 Homo sapiens 9606 EC 3.4.13.19 Y Y ECO:0000311 EC number UniProtKB AAP 11/28/2012 83 3300007941 Faith Q9NXB9 54898 ELOVL2 Homo sapiens 9606 EC 2.3.1.199 Y Y EC number UniProtKB AAP 4/3/2013 90 3300007942 Faith Q9NXB9 54898 ELOVL2 Homo sapiens 9606 Comment/function Condensing enzyme that catalyzes the synthesis of polyunsaturated very long chain fatty acid (C20- and C22-PUFA). Acts specifically toward polyunsaturated acyl-CoA with the higher activity toward C20:4(n-6) acyl-CoA. unsaturated fatty acyl-CoA CHEBI:51006 Y Y ECO:0000006 PubMed:12371743 PubMed:20937905 UniProtKB AAP 4/3/2013 90 3300007943 Faith Q9NXB9 54898 ELOVL2 Homo sapiens 9606 Comment/function Condensing enzyme that catalyzes the synthesis of polyunsaturated very long chain fatty acid (C20- and C22-PUFA). Acts specifically toward polyunsaturated acyl-CoA with the higher activity toward C20:4(n-6) acyl-CoA. arachidonoyl-CoA CHEBI:15514 Y Y ECO:0000006 PubMed:12371743 PubMed:20937905 UniProtKB AAP 4/3/2013 90 3300007944 Faith Q9NXB9 54898 ELOVL2 Homo sapiens 9606 Comment/tissue specificity Liver and testis. liver BTO:0000759 Y Y ECO:0000006 PubMed:20937905 UniProtKB AAP 4/3/2013 90 3300007946 Faith Q9NXB9 54898 ELOVL2 Homo sapiens 9606 Comment/tissue specificity Liver and testis. liver UBERON:0002107 Y Y ECO:0000006 PubMed:20937905 UniProtKB AAP 4/3/2013 90 3300007947 Faith Q9NXB9 54898 ELOVL2 Homo sapiens 9606 Comment/tissue specificity Liver and testis. testis BTO:0001363 Y Y ECO:0000006 PubMed:20937905 UniProtKB AAP 4/3/2013 90 3300007948 Faith Q9NXB9 54898 ELOVL2 Homo sapiens 9606 Comment/tissue specificity Liver and testis. testis UBERON:0000473 Y Y ECO:0000006 PubMed:20937905 UniProtKB AAP 4/3/2013 90 3300007949 Faith Q9NYP7 60481 ELOVL5 Homo sapiens 9606 EC 2.3.1.199 Y Y EC number UniProtKB AAP 4/3/2013 94 3300007950 Faith Q9NYP7 60481 ELOVL5 Homo sapiens 9606 Comment/function Condensing enzyme that catalyzes the synthesis of monounsaturated and of polyunsaturated very long chain fatty acids Acts specifically toward polyunsaturated acyl-CoA with the higher activity toward C18:3(n-6) acyl-CoA. unsaturated fatty acyl-CoA CHEBI:51006 Y Y ECO:0000006 PubMed:10970790 PubMed:20937905 UniProtKB AAP 4/3/2013 94 3300007951 Faith Q9NYP7 60481 ELOVL5 Homo sapiens 9606 Comment/function Condensing enzyme that catalyzes the synthesis of monounsaturated and of polyunsaturated very long chain fatty acids Acts specifically toward polyunsaturated acyl-CoA with the higher activity toward C18:3(n-6) acyl-CoA. gamma-linolenoyl-CoA CHEBI:15508 Y Y ECO:0000006 PubMed:10970790 PubMed:20937905 UniProtKB AAP 4/3/2013 94 3300007952 Faith Q9NYP7 60481 ELOVL5 Homo sapiens 9606 Comment/tissue specificity Ubiquitous. Highly expressed in the adrenal gland and testis. Weakly expressed in prostate, lung and brain. adrenal gland BTO:0000047 Y Y ECO:0000006 PubMed:10970790 PubMed:20937905 UniProtKB AAP 4/3/2013 94 3300007955 Faith Q9NYP7 60481 ELOVL5 Homo sapiens 9606 Comment/tissue specificity Ubiquitous. Highly expressed in the adrenal gland and testis. Weakly expressed in prostate, lung and brain. adrenal gland UBERON:0002369 Y Y ECO:0000006 PubMed:10970790 PubMed:20937905 UniProtKB AAP 4/3/2013 94 3300007956 Faith Q9NYP7 60481 ELOVL5 Homo sapiens 9606 Comment/tissue specificity Ubiquitous. Highly expressed in the adrenal gland and testis. Weakly expressed in prostate, lung and brain. testis BTO:0001363 Y Y ECO:0000006 PubMed:10970790 PubMed:20937905 UniProtKB AAP 4/3/2013 94 3300007957 Faith Q9NYP7 60481 ELOVL5 Homo sapiens 9606 Comment/tissue specificity Ubiquitous. Highly expressed in the adrenal gland and testis. Weakly expressed in prostate, lung and brain. testis UBERON:0000473 Y Y ECO:0000006 PubMed:10970790 PubMed:20937905 UniProtKB AAP 4/3/2013 94 3300007958 Faith Q9NYP7 60481 ELOVL5 Homo sapiens 9606 Comment/tissue specificity Ubiquitous. Highly expressed in the adrenal gland and testis. Weakly expressed in prostate, lung and brain. prostate gland BTO:0001129 Y Y ECO:0000006 PubMed:10970790 PubMed:20937905 UniProtKB weakly expressed AAP 4/3/2013 94 3300007959 Faith Q9NYP7 60481 ELOVL5 Homo sapiens 9606 Comment/tissue specificity Ubiquitous. Highly expressed in the adrenal gland and testis. Weakly expressed in prostate, lung and brain. prostate gland UBERON:0002367 Y Y ECO:0000006 PubMed:10970790 PubMed:20937905 UniProtKB weakly expressed AAP 4/3/2013 94 3300007960 Faith Q9NYP7 60481 ELOVL5 Homo sapiens 9606 Comment/tissue specificity Ubiquitous. Highly expressed in the adrenal gland and testis. Weakly expressed in prostate, lung and brain. lung BTO:0000763 Y Y ECO:0000006 PubMed:10970790 PubMed:20937905 UniProtKB weakly expressed AAP 4/3/2013 94 3300007961 Faith Q9NYP7 60481 ELOVL5 Homo sapiens 9606 Comment/tissue specificity Ubiquitous. Highly expressed in the adrenal gland and testis. Weakly expressed in prostate, lung and brain. lung UBERON:0002048 Y Y ECO:0000006 PubMed:10970790 PubMed:20937905 UniProtKB weakly expressed AAP 4/3/2013 94 3300007962 Faith Q9NYP7 60481 ELOVL5 Homo sapiens 9606 Comment/tissue specificity Ubiquitous. Highly expressed in the adrenal gland and testis. Weakly expressed in prostate, lung and brain. brain BTO:0000142 Y Y ECO:0000006 PubMed:10970790 PubMed:20937905 UniProtKB weakly expressed AAP 4/3/2013 94 3300007963 Faith Q9NYP7 60481 ELOVL5 Homo sapiens 9606 Comment/tissue specificity Ubiquitous. Highly expressed in the adrenal gland and testis. Weakly expressed in prostate, lung and brain. brain UBERON:0000955 Y Y ECO:0000006 PubMed:10970790 PubMed:20937905 UniProtKB weakly expressed AAP 4/3/2013 94 3300007964 Faith Q9NYP7 60481 ELOVL5 Homo sapiens 9606 Comment/Sequence caution The sequence BAC11178.1 (EMBL-CDS). Reason: erroneous initiation Y Y UniProtKB AAP 4/3/2013 94 3300007965 Faith O60427 3992 FADS1 Homo sapiens 9606 EC 1.14.19.- Y Y EC number UniProtKB AAP 5/1/2013 108 3300007970 Faith O60427 3992 FADS1 Homo sapiens 9606 Comment/function Component of a lipid metabolic pathway that catalyzes biosynthesis of highly unsaturated fatty acids (HUFA) from precursor essential polyunsaturated fatty acids (PUFA) linoleic acid (LA) (18:2n-6) and alpha-linolenic acid (ALA) (18:3n-3). Catalyzes the desaturation of dihomo-gamma-linoleic acid (DHGLA) (20:3n-6) and eicosatetraenoic acid (20:4n-3) to generate arachidonic acid (AA) (20:4n-6) and eicosapentaenoic acid (EPA)(20:5n-3) respectively. linoleic acid CHEBI:17351 Y Y ECO:0000006 PubMed:10601301 PubMed:10769175 UniProtKB AAP 5/1/2013 108 3300007971 Faith O60427 3992 FADS1 Homo sapiens 9606 Comment/function Component of a lipid metabolic pathway that catalyzes biosynthesis of highly unsaturated fatty acids (HUFA) from precursor essential polyunsaturated fatty acids (PUFA) linoleic acid (LA) (18:2n-6) and alpha-linolenic acid (ALA) (18:3n-3). Catalyzes the desaturation of dihomo-gamma-linoleic acid (DHGLA) (20:3n-6) and eicosatetraenoic acid (20:4n-3) to generate arachidonic acid (AA) (20:4n-6) and eicosapentaenoic acid (EPA)(20:5n-3) respectively. icosatetraenoic acid CHEBI:36033 Y Y ECO:0000006 PubMed:10601301 PubMed:10769175 UniProtKB AAP 5/1/2013 108 3300007972 Faith O60427 3992 FADS1 Homo sapiens 9606 Comment/function Component of a lipid metabolic pathway that catalyzes biosynthesis of highly unsaturated fatty acids (HUFA) from precursor essential polyunsaturated fatty acids (PUFA) linoleic acid (LA) (18:2n-6) and alpha-linolenic acid (ALA) (18:3n-3). Catalyzes the desaturation of dihomo-gamma-linoleic acid (DHGLA) (20:3n-6) and eicosatetraenoic acid (20:4n-3) to generate arachidonic acid (AA) (20:4n-6) and eicosapentaenoic acid (EPA)(20:5n-3) respectively. alpha-linolenic acid CHEBI:27432 Y Y ECO:0000006 PubMed:10601301 PubMed:10769175 UniProtKB AAP 5/1/2013 108 3300007973 Faith O60427 3992 FADS1 Homo sapiens 9606 Comment/function Component of a lipid metabolic pathway that catalyzes biosynthesis of highly unsaturated fatty acids (HUFA) from precursor essential polyunsaturated fatty acids (PUFA) linoleic acid (LA) (18:2n-6) and alpha-linolenic acid (ALA) (18:3n-3). Catalyzes the desaturation of dihomo-gamma-linoleic acid (DHGLA) (20:3n-6) and eicosatetraenoic acid (20:4n-3) to generate arachidonic acid (AA) (20:4n-6) and eicosapentaenoic acid (EPA)(20:5n-3) respectively. all-cis-icosa-8,11,14-trienoic acid CHEBI:53486 Y Y ECO:0000006 PubMed:10601301 PubMed:10769175 UniProtKB AAP 5/1/2013 108 3300007974 Faith O60427 3992 FADS1 Homo sapiens 9606 Comment/pathway Lipid metabolism; polyunsaturated fatty acid biosynthesis. lipid metabolic process GO:0006629 UPA00436 Y Y UniProtKB AAP 5/1/2013 108 3300007976 Faith O60427 3992 FADS1 Homo sapiens 9606 Comment/tissue specificity Expressed in many tissues, it is most abundant in the liver, brain, adrenal gland and heart. Found as well in skeletal muscle, lung, placenta, kidney, pancreas and retina. liver BTO:0000759 Y Y ECO:0000006 PubMed:10601301 PubMed:10769175 PubMed:10860662 UniProtKB AAP 5/1/2013 108 3300007979 Faith O60427 3992 FADS1 Homo sapiens 9606 Comment/tissue specificity Expressed in many tissues, it is most abundant in the liver, brain, adrenal gland and heart. Found as well in skeletal muscle, lung, placenta, kidney, pancreas and retina. liver UBERON:0002107 Y Y ECO:0000006 PubMed:10601301 PubMed:10769175 PubMed:10860662 UniProtKB AAP 5/1/2013 108 3300007980 Faith O60427 3992 FADS1 Homo sapiens 9606 Comment/tissue specificity Expressed in many tissues, it is most abundant in the liver, brain, adrenal gland and heart. Found as well in skeletal muscle, lung, placenta, kidney, pancreas and retina. brain BTO:0000142 Y Y ECO:0000006 PubMed:10601301 PubMed:10769175 PubMed:10860662 UniProtKB AAP 5/1/2013 108 3300007981 Faith O60427 3992 FADS1 Homo sapiens 9606 Comment/tissue specificity Expressed in many tissues, it is most abundant in the liver, brain, adrenal gland and heart. Found as well in skeletal muscle, lung, placenta, kidney, pancreas and retina. brain UBERON:0000955 Y Y ECO:0000006 PubMed:10601301 PubMed:10769175 PubMed:10860662 UniProtKB AAP 5/1/2013 108 3300007982 Faith O60427 3992 FADS1 Homo sapiens 9606 Comment/tissue specificity Expressed in many tissues, it is most abundant in the liver, brain, adrenal gland and heart. Found as well in skeletal muscle, lung, placenta, kidney, pancreas and retina. adrenal gland BTO:0000047 Y Y ECO:0000006 PubMed:10601301 PubMed:10769175 PubMed:10860662 UniProtKB AAP 5/1/2013 108 3300007983 Faith O60427 3992 FADS1 Homo sapiens 9606 Comment/tissue specificity Expressed in many tissues, it is most abundant in the liver, brain, adrenal gland and heart. Found as well in skeletal muscle, lung, placenta, kidney, pancreas and retina. adrenal gland UBERON:0002369 Y Y ECO:0000006 PubMed:10601301 PubMed:10769175 PubMed:10860662 UniProtKB AAP 5/1/2013 108 3300007984 Faith O60427 3992 FADS1 Homo sapiens 9606 Comment/tissue specificity Expressed in many tissues, it is most abundant in the liver, brain, adrenal gland and heart. Found as well in skeletal muscle, lung, placenta, kidney, pancreas and retina. heart BTO:0000562 Y Y ECO:0000006 PubMed:10601301 PubMed:10769175 PubMed:10860662 UniProtKB AAP 5/1/2013 108 3300007985 Faith O60427 3992 FADS1 Homo sapiens 9606 Comment/tissue specificity Expressed in many tissues, it is most abundant in the liver, brain, adrenal gland and heart. Found as well in skeletal muscle, lung, placenta, kidney, pancreas and retina. heart UBERON:0000948 Y Y ECO:0000006 PubMed:10601301 PubMed:10769175 PubMed:10860662 UniProtKB AAP 5/1/2013 108 3300007986 Faith O60427 3992 FADS1 Homo sapiens 9606 Comment/tissue specificity Expressed in many tissues, it is most abundant in the liver, brain, adrenal gland and heart. Found as well in skeletal muscle, lung, placenta, kidney, pancreas and retina. skeletal muscle BTO:0001103 Y Y ECO:0000006 PubMed:10601301 PubMed:10769175 PubMed:10860662 UniProtKB AAP 5/1/2013 108 3300007987 Faith O60427 3992 FADS1 Homo sapiens 9606 Comment/tissue specificity Expressed in many tissues, it is most abundant in the liver, brain, adrenal gland and heart. Found as well in skeletal muscle, lung, placenta, kidney, pancreas and retina. skeletal muscle tissue UBERON:0001134 Y Y ECO:0000006 PubMed:10601301 PubMed:10769175 PubMed:10860662 UniProtKB AAP 5/1/2013 108 3300007988 Faith O60427 3992 FADS1 Homo sapiens 9606 Comment/tissue specificity Expressed in many tissues, it is most abundant in the liver, brain, adrenal gland and heart. Found as well in skeletal muscle, lung, placenta, kidney, pancreas and retina. lung BTO:0000763 Y Y ECO:0000006 PubMed:10601301 PubMed:10769175 PubMed:10860662 UniProtKB AAP 5/1/2013 108 3300007989 Faith O60427 3992 FADS1 Homo sapiens 9606 Comment/tissue specificity Expressed in many tissues, it is most abundant in the liver, brain, adrenal gland and heart. Found as well in skeletal muscle, lung, placenta, kidney, pancreas and retina. lung UBERON:0002048 Y Y ECO:0000006 PubMed:10601301 PubMed:10769175 PubMed:10860662 UniProtKB AAP 5/1/2013 108 3300007990 Faith O60427 3992 FADS1 Homo sapiens 9606 Comment/tissue specificity Expressed in many tissues, it is most abundant in the liver, brain, adrenal gland and heart. Found as well in skeletal muscle, lung, placenta, kidney, pancreas and retina. placenta BTO:0001078 Y Y ECO:0000006 PubMed:10601301 PubMed:10769175 PubMed:10860662 UniProtKB AAP 5/1/2013 108 3300007991 Faith O60427 3992 FADS1 Homo sapiens 9606 Comment/tissue specificity Expressed in many tissues, it is most abundant in the liver, brain, adrenal gland and heart. Found as well in skeletal muscle, lung, placenta, kidney, pancreas and retina. placenta UBERON:0001987 Y Y ECO:0000006 PubMed:10601301 PubMed:10769175 PubMed:10860662 UniProtKB AAP 5/1/2013 108 3300007992 Faith O60427 3992 FADS1 Homo sapiens 9606 Comment/tissue specificity Expressed in many tissues, it is most abundant in the liver, brain, adrenal gland and heart. Found as well in skeletal muscle, lung, placenta, kidney, pancreas and retina. kidney BTO:0000671 Y Y ECO:0000006 PubMed:10601301 PubMed:10769175 PubMed:10860662 UniProtKB AAP 5/1/2013 108 3300007993 Faith O60427 3992 FADS1 Homo sapiens 9606 Comment/tissue specificity Expressed in many tissues, it is most abundant in the liver, brain, adrenal gland and heart. Found as well in skeletal muscle, lung, placenta, kidney, pancreas and retina. kidney UBERON:0002113 Y Y ECO:0000006 PubMed:10601301 PubMed:10769175 PubMed:10860662 UniProtKB AAP 5/1/2013 108 3300007994 Faith O60427 3992 FADS1 Homo sapiens 9606 Comment/tissue specificity Expressed in many tissues, it is most abundant in the liver, brain, adrenal gland and heart. Found as well in skeletal muscle, lung, placenta, kidney, pancreas and retina. pancreas BTO:0000988 Y Y ECO:0000006 PubMed:10601301 PubMed:10769175 PubMed:10860662 UniProtKB AAP 5/1/2013 108 3300007995 Faith O60427 3992 FADS1 Homo sapiens 9606 Comment/tissue specificity Expressed in many tissues, it is most abundant in the liver, brain, adrenal gland and heart. Found as well in skeletal muscle, lung, placenta, kidney, pancreas and retina. pancreas UBERON:0001264 Y Y ECO:0000006 PubMed:10601301 PubMed:10769175 PubMed:10860662 UniProtKB AAP 5/1/2013 108 3300007996 Faith O60427 3992 FADS1 Homo sapiens 9606 Comment/tissue specificity Expressed in many tissues, it is most abundant in the liver, brain, adrenal gland and heart. Found as well in skeletal muscle, lung, placenta, kidney, pancreas and retina. retina BTO:0001175 Y Y ECO:0000006 PubMed:10601301 PubMed:10769175 PubMed:10860662 UniProtKB AAP 5/1/2013 108 3300007997 Faith O60427 3992 FADS1 Homo sapiens 9606 Comment/tissue specificity Expressed in many tissues, it is most abundant in the liver, brain, adrenal gland and heart. Found as well in skeletal muscle, lung, placenta, kidney, pancreas and retina. retina UBERON:0000966 Y Y ECO:0000006 PubMed:10601301 PubMed:10769175 PubMed:10860662 UniProtKB AAP 5/1/2013 108 3300007998 Faith O60427 3992 FADS1 Homo sapiens 9606 Comment/developmental stage Highly expressed in fetal liver and fetal brain. liver BTO:0000759 fetus BTO:0000449 Y Y ECO:0000006 PubMed:10601301 PubMed:10769175 UniProtKB AAP 5/1/2013 108 3300007999 Faith O60427 3992 FADS1 Homo sapiens 9606 Comment/developmental stage Highly expressed in fetal liver and fetal brain. liver UBERON:0002107 fetus BTO:0000449 Y Y ECO:0000006 PubMed:10601301 PubMed:10769175 UniProtKB AAP 5/1/2013 108 3300008000 Faith O60427 3992 FADS1 Homo sapiens 9606 Comment/Sequence caution The sequence CAC21679.1 (EMBL-CDS). Reason: erroneous initiation. Translation N-terminally extended. Y Y UniProtKB AAP 5/1/2013 108 3300008001 Faith O95864 9415 FADS2 Homo sapiens 9606 EC 1.14.19.- Y Y EC number UniProtKB AAP, DGA 5/1/2013 101 3300008002 Faith O95864 9415 FADS2 Homo sapiens 9606 Comment/function Component of a lipid metabolic pathway that catalyzes biosynthesis of highly unsaturated fatty acids (HUFA) from precursor essential polyunsaturated fatty acids (PUFA) linoleic acid (LA) (18:2n-6) and alpha-linolenic acid (ALA) (18:3n-3). Catalyzes the first and rate limiting step in this pathway which is the desaturation of LA (18:2n-6) and ALA (18:3n-3) into gamma-linoleic acid (GLA) (18:3n-6) and stearidonic acid (18:4n-3) respectively and other desaturation steps. Highly unsaturated fatty acids (HUFA) play pivotal roles in many biological functions. It catalizes as well the introduction of a cis double bond in palmitate to produce the mono-unsaturated fatty acid sapienate, the most abundant fatty acid in sebum. linoleic acid CHEBI:17351 Y Y ECO:0000006 PubMed:9867867 PubMed:12713571 UniProtKB AAP, DGA 5/1/2013 101 3300008003 Faith O95864 9415 FADS2 Homo sapiens 9606 Comment/function Component of a lipid metabolic pathway that catalyzes biosynthesis of highly unsaturated fatty acids (HUFA) from precursor essential polyunsaturated fatty acids (PUFA) linoleic acid (LA) (18:2n-6) and alpha-linolenic acid (ALA) (18:3n-3). Catalyzes the first and rate limiting step in this pathway which is the desaturation of LA (18:2n-6) and ALA (18:3n-3) into gamma-linoleic acid (GLA) (18:3n-6) and stearidonic acid (18:4n-3) respectively and other desaturation steps. Highly unsaturated fatty acids (HUFA) play pivotal roles in many biological functions. It catalizes as well the introduction of a cis double bond in palmitate to produce the mono-unsaturated fatty acid sapienate, the most abundant fatty acid in sebum. alpha-linolenic acid CHEBI:27432 Y Y ECO:0000006 PubMed:9867867 PubMed:12713571 UniProtKB AAP, DGA 5/1/2013 101 3300008004 Faith O95864 9415 FADS2 Homo sapiens 9606 Comment/pathway Lipid metabolism; polyunsaturated fatty acid biosynthesis. lipid metabolic process GO:0006629 UPA00436 Y Y UniProtKB AAP, DGA 5/1/2013 101 3300008005 Faith O95864 9415 FADS2 Homo sapiens 9606 Comment/tissue specificity Expressed in a wide array of tissues, highest expression is found in liver followed by brain, lung, heart, and retina. A lower level is found in breast tumor when compared with normal tissues; lowest levels were found in patients with poor prognostic index. liver BTO:0000759 Y Y ECO:0000006 PubMed:9867867 PubMed:10860662 PubMed:12851727 UniProtKB AAP, DGA 5/1/2013 101 3300008008 Faith O95864 9415 FADS2 Homo sapiens 9606 Comment/tissue specificity Expressed in a wide array of tissues, highest expression is found in liver followed by brain, lung, heart, and retina. A lower level is found in breast tumor when compared with normal tissues; lowest levels were found in patients with poor prognostic index. liver UBERON:0002107 Y Y ECO:0000006 PubMed:9867867 PubMed:10860662 PubMed:12851727 UniProtKB AAP, DGA 5/1/2013 101 3300008009 Faith O95864 9415 FADS2 Homo sapiens 9606 Comment/tissue specificity Expressed in a wide array of tissues, highest expression is found in liver followed by brain, lung, heart, and retina. A lower level is found in breast tumor when compared with normal tissues; lowest levels were found in patients with poor prognostic index. brain BTO:0000142 Y Y ECO:0000006 PubMed:9867867 PubMed:10860662 PubMed:12851727 UniProtKB AAP, DGA 5/1/2013 101 3300008010 Faith O95864 9415 FADS2 Homo sapiens 9606 Comment/tissue specificity Expressed in a wide array of tissues, highest expression is found in liver followed by brain, lung, heart, and retina. A lower level is found in breast tumor when compared with normal tissues; lowest levels were found in patients with poor prognostic index. brain UBERON:0000955 Y Y ECO:0000006 PubMed:9867867 PubMed:10860662 PubMed:12851727 UniProtKB AAP, DGA 5/1/2013 101 3300008011 Faith O95864 9415 FADS2 Homo sapiens 9606 Comment/tissue specificity Expressed in a wide array of tissues, highest expression is found in liver followed by brain, lung, heart, and retina. A lower level is found in breast tumor when compared with normal tissues; lowest levels were found in patients with poor prognostic index. lung BTO:0000763 Y Y ECO:0000006 PubMed:9867867 PubMed:10860662 PubMed:12851727 UniProtKB AAP, DGA 5/1/2013 101 3300008012 Faith O95864 9415 FADS2 Homo sapiens 9606 Comment/tissue specificity Expressed in a wide array of tissues, highest expression is found in liver followed by brain, lung, heart, and retina. A lower level is found in breast tumor when compared with normal tissues; lowest levels were found in patients with poor prognostic index. lung UBERON:0002048 Y Y ECO:0000006 PubMed:9867867 PubMed:10860662 PubMed:12851727 UniProtKB AAP, DGA 5/1/2013 101 3300008013 Faith O95864 9415 FADS2 Homo sapiens 9606 Comment/tissue specificity Expressed in a wide array of tissues, highest expression is found in liver followed by brain, lung, heart, and retina. A lower level is found in breast tumor when compared with normal tissues; lowest levels were found in patients with poor prognostic index. heart BTO:0000562 Y Y ECO:0000006 PubMed:9867867 PubMed:10860662 PubMed:12851727 UniProtKB AAP, DGA 5/1/2013 101 3300008014 Faith O95864 9415 FADS2 Homo sapiens 9606 Comment/tissue specificity Expressed in a wide array of tissues, highest expression is found in liver followed by brain, lung, heart, and retina. A lower level is found in breast tumor when compared with normal tissues; lowest levels were found in patients with poor prognostic index. heart UBERON:0000948 Y Y ECO:0000006 PubMed:9867867 PubMed:10860662 PubMed:12851727 UniProtKB AAP, DGA 5/1/2013 101 3300008015 Faith O95864 9415 FADS2 Homo sapiens 9606 Comment/tissue specificity Expressed in a wide array of tissues, highest expression is found in liver followed by brain, lung, heart, and retina. A lower level is found in breast tumor when compared with normal tissues; lowest levels were found in patients with poor prognostic index. retina BTO:0001175 Y Y ECO:0000006 PubMed:9867867 PubMed:10860662 PubMed:12851727 UniProtKB AAP, DGA 5/1/2013 101 3300008016 Faith O95864 9415 FADS2 Homo sapiens 9606 Comment/tissue specificity Expressed in a wide array of tissues, highest expression is found in liver followed by brain, lung, heart, and retina. A lower level is found in breast tumor when compared with normal tissues; lowest levels were found in patients with poor prognostic index. retina UBERON:0000966 Y Y ECO:0000006 PubMed:9867867 PubMed:10860662 PubMed:12851727 UniProtKB AAP, DGA 5/1/2013 101 3300008017 Faith O95864 9415 FADS2 Homo sapiens 9606 Comment/tissue specificity Expressed in a wide array of tissues, highest expression is found in liver followed by brain, lung, heart, and retina. A lower level is found in breast tumor when compared with normal tissues; lowest levels were found in patients with poor prognostic index. breast cancer DOID:1612 Y Y ECO:0000006 PubMed:9867867 PubMed:10860662 PubMed:12851727 UniProtKB lower levels in breast tumor AAP, DGA 5/1/2013 101 3300008018 Faith O95864 9415 FADS2 Homo sapiens 9606 Comment/tissue specificity Expressed in a wide array of tissues, highest expression is found in liver followed by brain, lung, heart, and retina. A lower level is found in breast tumor when compared with normal tissues; lowest levels were found in patients with poor prognostic index. Neoplasm of breast SNOMEDCT:126926005 Y Y ECO:0000006 PubMed:9867867 PubMed:10860662 PubMed:12851727 UniProtKB lower levels in breast tumor AAP, DGA 5/1/2013 101 3300008019 Faith O95864 9415 FADS2 Homo sapiens 9606 Comment/developmental stage Found in fetal heart. heart BTO:0000562 fetus BTO:0000449 Y Y UniProtKB AAP, DGA 5/1/2013 101 3300008020 Faith O95864 9415 FADS2 Homo sapiens 9606 Comment/developmental stage Found in fetal heart. heart UBERON:0000948 fetus BTO:0000449 Y Y UniProtKB AAP, DGA 5/1/2013 101 3300008021 Faith Q8TBF2 127281 FAM213B Homo sapiens 9606 Comment/subcellular location Cytosol cytosol GO:0005829 SL-0091 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 83 3300008024 Faith Q8TBF2 127281 FAM213B Homo sapiens 9606 EC 1.11.1.20 Y Y ECO:0000311 EC number UniProtKB AAP 2/6/2013 83 3300008025 Rose P19440 2678 GGT1 Homo sapiens 9606 Comment/tissue specificity Detected in fetal and adult kidney and liver, adult pancreas, stomach, intestine, placenta and lung. Isoform 3 is lung-specific. There are several other tissue-specific forms that arise from alternative promoter usage but that produce the same protein. kidney BTO:0000671 adult BTO:0001043 Y Y ECO:0000311 UniProtKB AAP, DGA 11/28/2012 148 3300008026 Rose P19440 2678 GGT1 Homo sapiens 9606 Comment/tissue specificity Detected in fetal and adult kidney and liver, adult pancreas, stomach, intestine, placenta and lung. Isoform 3 is lung-specific. There are several other tissue-specific forms that arise from alternative promoter usage but that produce the same protein. kidney UBERON:0002113 adult BTO:0001043 Y Y ECO:0000311 UniProtKB AAP, DGA 11/28/2012 148 3300008027 Rose P19440 2678 GGT1 Homo sapiens 9606 Comment/tissue specificity Detected in fetal and adult kidney and liver, adult pancreas, stomach, intestine, placenta and lung. Isoform 3 is lung-specific. There are several other tissue-specific forms that arise from alternative promoter usage but that produce the same protein. liver BTO:0000759 adult BTO:0001043 Y Y ECO:0000311 UniProtKB AAP, DGA 11/28/2012 148 3300008028 Rose P19440 2678 GGT1 Homo sapiens 9606 Comment/tissue specificity Detected in fetal and adult kidney and liver, adult pancreas, stomach, intestine, placenta and lung. Isoform 3 is lung-specific. There are several other tissue-specific forms that arise from alternative promoter usage but that produce the same protein. liver UBERON:0002107 adult BTO:0001043 Y Y ECO:0000311 UniProtKB AAP, DGA 11/28/2012 148 3300008029 Rose P19440 2678 GGT1 Homo sapiens 9606 Comment/tissue specificity Detected in fetal and adult kidney and liver, adult pancreas, stomach, intestine, placenta and lung. Isoform 3 is lung-specific. There are several other tissue-specific forms that arise from alternative promoter usage but that produce the same protein. kidney BTO:0000671 fetus BTO:0000449 Y Y ECO:0000311 UniProtKB AAP, DGA 11/28/2012 148 3300008030 Rose P19440 2678 GGT1 Homo sapiens 9606 Comment/tissue specificity Detected in fetal and adult kidney and liver, adult pancreas, stomach, intestine, placenta and lung. Isoform 3 is lung-specific. There are several other tissue-specific forms that arise from alternative promoter usage but that produce the same protein. kidney UBERON:0002113 fetus BTO:0000449 Y Y ECO:0000311 UniProtKB AAP, DGA 11/28/2012 148 3300008031 Rose P19440 2678 GGT1 Homo sapiens 9606 Comment/tissue specificity Detected in fetal and adult kidney and liver, adult pancreas, stomach, intestine, placenta and lung. Isoform 3 is lung-specific. There are several other tissue-specific forms that arise from alternative promoter usage but that produce the same protein. liver BTO:0000759 fetus BTO:0000449 Y Y ECO:0000311 UniProtKB AAP, DGA 11/28/2012 148 3300008032 Rose P19440 2678 GGT1 Homo sapiens 9606 Comment/tissue specificity Detected in fetal and adult kidney and liver, adult pancreas, stomach, intestine, placenta and lung. Isoform 3 is lung-specific. There are several other tissue-specific forms that arise from alternative promoter usage but that produce the same protein. liver UBERON:0002107 fetus BTO:0000449 Y Y ECO:0000311 UniProtKB AAP, DGA 11/28/2012 148 3300008033 Rose P19440 2678 GGT1 Homo sapiens 9606 Comment/Involvement in disease Glutathionuria (GLUTH) [MIM:231950]: Autosomal recessive disease. Note=The disease is caused by mutations affecting the gene represented in this entry. MIM:231950 amino acid metabolic disorder DOID:9252 The disease is caused by mutations affecting the gene represented in this entry. Y Y ECO:0000311 UniProtKB HDO term more general than OMIM. AAP, DGA 5/1/2013 151 3300008035 Rose P19440 2678 GGT1 Homo sapiens 9606 Comment/Involvement in disease Glutathionuria (GLUTH) [MIM:231950]: Autosomal recessive disease. Note=The disease is caused by mutations affecting the gene represented in this entry. MIM:231950 gamma-Glutamyltransferase deficiency SNOMEDCT:78586005 The disease is caused by mutations affecting the gene represented in this entry. Y Y ECO:0000311 UniProtKB HDO term more general than OMIM. AAP, DGA 5/1/2013 151 3300008036 Rose P19440 2678 GGT1 Homo sapiens 9606 Comment/pathway Sulfur metabolism; glutathione metabolism. glutathione metabolic process GO:0006749 UPA00096 Y Y ECO:0000311 UniProtKB AAP, DGA 11/28/2012 148 3300008038 Rose P19440 2678 GGT1 Homo sapiens 9606 Comment/pathway Sulfur metabolism; glutathione metabolism. sulfur compound metabolic process GO:0006790 UPA00096 Y Y ECO:0000311 UniProtKB AAP, DGA 11/28/2012 148 3300008039 Rose P19440 2678 GGT1 Homo sapiens 9606 Comment/subcellular location Membrane;Single-pass type II membrane protein membrane GO:0016020 SL-0162 Y Y ECO:0000311 UniProtKB AAP, DGA 11/28/2012 148 3300008041 Rose P19440 2678 GGT1 Homo sapiens 9606 Comment/tissue specificity Detected in fetal and adult kidney and liver, adult pancreas, stomach, intestine, placenta and lung. Isoform 3 is lung-specific. There are several other tissue-specific forms that arise from alternative promoter usage but that produce the same protein. intestine BTO:0000648 Y Y ECO:0000311 UniProtKB AAP, DGA 11/28/2012 148 3300008044 Rose P19440 2678 GGT1 Homo sapiens 9606 Comment/tissue specificity Detected in fetal and adult kidney and liver, adult pancreas, stomach, intestine, placenta and lung. Isoform 3 is lung-specific. There are several other tissue-specific forms that arise from alternative promoter usage but that produce the same protein. intestine UBERON:0000160 Y Y ECO:0000311 UniProtKB AAP, DGA 11/28/2012 148 3300008045 Rose P19440 2678 GGT1 Homo sapiens 9606 Comment/tissue specificity Detected in fetal and adult kidney and liver, adult pancreas, stomach, intestine, placenta and lung. Isoform 3 is lung-specific. There are several other tissue-specific forms that arise from alternative promoter usage but that produce the same protein. lung BTO:0000763 Y Y ECO:0000311 UniProtKB AAP, DGA 11/28/2012 148 3300008046 Rose P19440 2678 GGT1 Homo sapiens 9606 Comment/tissue specificity Detected in fetal and adult kidney and liver, adult pancreas, stomach, intestine, placenta and lung. Isoform 3 is lung-specific. There are several other tissue-specific forms that arise from alternative promoter usage but that produce the same protein. lung UBERON:0002048 Y Y ECO:0000311 UniProtKB AAP, DGA 11/28/2012 148 3300008047 Rose P19440 2678 GGT1 Homo sapiens 9606 Comment/tissue specificity Detected in fetal and adult kidney and liver, adult pancreas, stomach, intestine, placenta and lung. Isoform 3 is lung-specific. There are several other tissue-specific forms that arise from alternative promoter usage but that produce the same protein. pancreas BTO:0000988 Y Y ECO:0000311 UniProtKB AAP, DGA 11/28/2012 148 3300008048 Rose P19440 2678 GGT1 Homo sapiens 9606 Comment/tissue specificity Detected in fetal and adult kidney and liver, adult pancreas, stomach, intestine, placenta and lung. Isoform 3 is lung-specific. There are several other tissue-specific forms that arise from alternative promoter usage but that produce the same protein. pancreas UBERON:0001264 Y Y ECO:0000311 UniProtKB AAP, DGA 11/28/2012 148 3300008049 Rose P19440 2678 GGT1 Homo sapiens 9606 Comment/tissue specificity Detected in fetal and adult kidney and liver, adult pancreas, stomach, intestine, placenta and lung. Isoform 3 is lung-specific. There are several other tissue-specific forms that arise from alternative promoter usage but that produce the same protein. placenta BTO:0001078 Y Y ECO:0000311 UniProtKB AAP, DGA 11/28/2012 148 3300008050 Rose P19440 2678 GGT1 Homo sapiens 9606 Comment/tissue specificity Detected in fetal and adult kidney and liver, adult pancreas, stomach, intestine, placenta and lung. Isoform 3 is lung-specific. There are several other tissue-specific forms that arise from alternative promoter usage but that produce the same protein. placenta UBERON:0001987 Y Y ECO:0000311 UniProtKB AAP, DGA 11/28/2012 148 3300008051 Rose P19440 2678 GGT1 Homo sapiens 9606 Comment/tissue specificity Detected in fetal and adult kidney and liver, adult pancreas, stomach, intestine, placenta and lung. Isoform 3 is lung-specific. There are several other tissue-specific forms that arise from alternative promoter usage but that produce the same protein. stomach BTO:0001307 Y Y ECO:0000311 UniProtKB AAP, DGA 11/28/2012 148 3300008052 Rose P19440 2678 GGT1 Homo sapiens 9606 Comment/tissue specificity Detected in fetal and adult kidney and liver, adult pancreas, stomach, intestine, placenta and lung. Isoform 3 is lung-specific. There are several other tissue-specific forms that arise from alternative promoter usage but that produce the same protein. stomach UBERON:0000945 Y Y ECO:0000311 UniProtKB AAP, DGA 11/28/2012 148 3300008053 Rose P19440 2678 GGT1 Homo sapiens 9606 EC 2.3.2.2 Y Y ECO:0000311 EC number UniProtKB AAP, DGA 11/28/2012 148 3300008054 Rose P36269 2687 GGT5 Homo sapiens 9606 Comment/pathway Lipid metabolism; leukotriene D4 biosynthesis. leukotriene biosynthetic process GO:0019370 UPA00436 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 124 3300008056 Rose P36269 2687 GGT5 Homo sapiens 9606 Comment/pathway Lipid metabolism; leukotriene D4 biosynthesis. lipid metabolic process GO:0006629 UPA00436 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 124 3300008057 Rose P36269 2687 GGT5 Homo sapiens 9606 EC 2.3.2.2 Y Y ECO:0000311 EC number UniProtKB AAP 2/6/2013 124 3300008060 Faith Q6P531 124975 GGT6 Homo sapiens 9606 Comment/pathway Sulfur metabolism; glutathione metabolism. sulfur compound metabolic process GO:0006790 UPA00096 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 69 3300008062 Faith Q6P531 124975 GGT6 Homo sapiens 9606 EC 2.3.2.2 Y Y ECO:0000311 EC number UniProtKB AAP 11/28/2012 69 3300008064 Katie Q9UJ14 2686 GGT7 Homo sapiens 9606 Comment/pathway Sulfur metabolism; glutathione metabolism. glutathione metabolic process GO:0006749 UPA00096 Y Y ECO:0000311 PubMed:14660610 PubMed:15752708 UniProtKB AAP 1/9/2013 101 3300008066 Katie Q9UJ14 2686 GGT7 Homo sapiens 9606 Comment/pathway Sulfur metabolism; glutathione metabolism. sulfur compound metabolic process GO:0006790 UPA00096 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 101 3300008067 Katie/Faith Q9UJ14 2686 GGT7 Homo sapiens 9606 Comment/tissue specificity Widely expressed, but at low level, except in the airway epithelial cells. Detected in brain, heart, kidney, liver, lung, spleen, testis and trachea. respiratory epithelium cell BTO:0004533 respiratory epithelial cell CL:0002368 Y Y ECO:0000311 UniProtKB except in the airway epithelial cells AAP 1/9/2013 101 3300008071 Katie/Faith Q9UJ14 2686 GGT7 Homo sapiens 9606 Comment/tissue specificity Widely expressed, but at low level, except in the airway epithelial cells. Detected in brain, heart, kidney, liver, lung, spleen, testis and trachea. brain BTO:0000142 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 101 3300008073 Katie/Faith Q9UJ14 2686 GGT7 Homo sapiens 9606 Comment/tissue specificity Widely expressed, but at low level, except in the airway epithelial cells. Detected in brain, heart, kidney, liver, lung, spleen, testis and trachea. brain UBERON:0000955 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 101 3300008074 Katie/Faith Q9UJ14 2686 GGT7 Homo sapiens 9606 Comment/tissue specificity Widely expressed, but at low level, except in the airway epithelial cells. Detected in brain, heart, kidney, liver, lung, spleen, testis and trachea. heart BTO:0000562 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 101 3300008075 Katie/Faith Q9UJ14 2686 GGT7 Homo sapiens 9606 Comment/tissue specificity Widely expressed, but at low level, except in the airway epithelial cells. Detected in brain, heart, kidney, liver, lung, spleen, testis and trachea. heart UBERON:0000948 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 101 3300008076 Katie/Faith Q9UJ14 2686 GGT7 Homo sapiens 9606 Comment/tissue specificity Widely expressed, but at low level, except in the airway epithelial cells. Detected in brain, heart, kidney, liver, lung, spleen, testis and trachea. kidney BTO:0000671 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 101 3300008077 Katie/Faith Q9UJ14 2686 GGT7 Homo sapiens 9606 Comment/tissue specificity Widely expressed, but at low level, except in the airway epithelial cells. Detected in brain, heart, kidney, liver, lung, spleen, testis and trachea. kidney UBERON:0002113 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 101 3300008078 Katie/Faith Q9UJ14 2686 GGT7 Homo sapiens 9606 Comment/tissue specificity Widely expressed, but at low level, except in the airway epithelial cells. Detected in brain, heart, kidney, liver, lung, spleen, testis and trachea. liver BTO:0000759 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 101 3300008079 Katie/Faith Q9UJ14 2686 GGT7 Homo sapiens 9606 Comment/tissue specificity Widely expressed, but at low level, except in the airway epithelial cells. Detected in brain, heart, kidney, liver, lung, spleen, testis and trachea. liver UBERON:0002107 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 101 3300008080 Katie/Faith Q9UJ14 2686 GGT7 Homo sapiens 9606 Comment/tissue specificity Widely expressed, but at low level, except in the airway epithelial cells. Detected in brain, heart, kidney, liver, lung, spleen, testis and trachea. lung BTO:0000763 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 101 3300008081 Katie/Faith Q9UJ14 2686 GGT7 Homo sapiens 9606 Comment/tissue specificity Widely expressed, but at low level, except in the airway epithelial cells. Detected in brain, heart, kidney, liver, lung, spleen, testis and trachea. lung UBERON:0002048 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 101 3300008082 Katie/Faith Q9UJ14 2686 GGT7 Homo sapiens 9606 Comment/tissue specificity Widely expressed, but at low level, except in the airway epithelial cells. Detected in brain, heart, kidney, liver, lung, spleen, testis and trachea. spleen BTO:0001281 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 101 3300008083 Katie/Faith Q9UJ14 2686 GGT7 Homo sapiens 9606 Comment/tissue specificity Widely expressed, but at low level, except in the airway epithelial cells. Detected in brain, heart, kidney, liver, lung, spleen, testis and trachea. spleen UBERON:0002106 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 101 3300008084 Katie/Faith Q9UJ14 2686 GGT7 Homo sapiens 9606 Comment/tissue specificity Widely expressed, but at low level, except in the airway epithelial cells. Detected in brain, heart, kidney, liver, lung, spleen, testis and trachea. testis BTO:0001363 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 101 3300008085 Katie Q9UJ14 2686 GGT7 Homo sapiens 9606 Comment/tissue specificity Widely expressed, but at low level, except in the airway epithelial cells. Detected in brain, heart, kidney, liver, lung, spleen, testis and trachea. testis UBERON:0000473 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 101 3300008086 Katie Q9UJ14 2686 GGT7 Homo sapiens 9606 Comment/tissue specificity Widely expressed, but at low level, except in the airway epithelial cells. Detected in brain, heart, kidney, liver, lung, spleen, testis and trachea. trachea BTO:0001388 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 101 3300008087 Katie Q9UJ14 2686 GGT7 Homo sapiens 9606 Comment/tissue specificity Widely expressed, but at low level, except in the airway epithelial cells. Detected in brain, heart, kidney, liver, lung, spleen, testis and trachea. trachea UBERON:0003126 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 101 3300008088 Katie Q9UJ14 2686 GGT7 Homo sapiens 9606 EC 2.3.2.2 Y Y ECO:0000311 EC number UniProtKB AAP 1/9/2013 101 3300008089 Faith Q13304 2840 GPR17 Homo sapiens 9606 Comment/tissue specificity Expressed in brain, kidney, heart and umbilical vein endothelial cells. Highest level in brain. HUVEC cell BTO:0001949 endothelial cell of umbilical vein CL:0002618 Y Y ECO:0000006 PubMed:16990797 UniProtKB AAP 4/3/2013 104 3300008090 Faith Q13304 2840 GPR17 Homo sapiens 9606 Comment/subcellular location Cell membrane;Multi-pass membrane protein plasma membrane GO:0005886 SL-0039 Y Y UniProtKB AAP 4/3/2013 104 3300008092 Faith Q13304 2840 GPR17 Homo sapiens 9606 Comment/tissue specificity Expressed in brain, kidney, heart and umbilical vein endothelial cells. Highest level in brain. brain BTO:0000142 Y Y ECO:0000006 PubMed:16990797 UniProtKB AAP 4/3/2013 104 3300008093 Faith Q13304 2840 GPR17 Homo sapiens 9606 Comment/tissue specificity Expressed in brain, kidney, heart and umbilical vein endothelial cells. Highest level in brain. brain UBERON:0000955 Y Y ECO:0000006 PubMed:16990797 UniProtKB AAP 4/3/2013 104 3300008094 Faith Q13304 2840 GPR17 Homo sapiens 9606 Comment/tissue specificity Expressed in brain, kidney, heart and umbilical vein endothelial cells. Highest level in brain. kidney BTO:0000671 Y Y ECO:0000006 PubMed:16990797 UniProtKB AAP 4/3/2013 104 3300008095 Faith Q13304 2840 GPR17 Homo sapiens 9606 Comment/tissue specificity Expressed in brain, kidney, heart and umbilical vein endothelial cells. Highest level in brain. kidney UBERON:0002113 Y Y ECO:0000006 PubMed:16990797 UniProtKB AAP 4/3/2013 104 3300008096 Faith Q13304 2840 GPR17 Homo sapiens 9606 Comment/tissue specificity Expressed in brain, kidney, heart and umbilical vein endothelial cells. Highest level in brain. heart BTO:0000562 Y Y ECO:0000006 PubMed:16990797 UniProtKB AAP 4/3/2013 104 3300008097 Faith Q13304 2840 GPR17 Homo sapiens 9606 Comment/tissue specificity Expressed in brain, kidney, heart and umbilical vein endothelial cells. Highest level in brain. heart UBERON:0000948 Y Y ECO:0000006 PubMed:16990797 UniProtKB AAP 4/3/2013 104 3300008098 Mike P07203 2876 GPX1 Homo sapiens 9606 EC 1.11.1.9 Y Y ECO:0000311 EC number UniProtKB AAP, DGA 2/6/2013 155 3300008101 Rose P18283 2877 GPX2 Homo sapiens 9606 Comment/tissue specificity Mostly in liver and gastrointestinal tract, not found in heart or kidney. gastrointestinal tract BTO:0000511 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 127 3300008106 Rose P18283 2877 GPX2 Homo sapiens 9606 Comment/tissue specificity Mostly in liver and gastrointestinal tract, not found in heart or kidney. digestive tract UBERON:0001555 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 127 3300008107 Rose P18283 2877 GPX2 Homo sapiens 9606 Comment/tissue specificity Mostly in liver and gastrointestinal tract, not found in heart or kidney. liver BTO:0000759 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 127 3300008108 Rose P18283 2877 GPX2 Homo sapiens 9606 Comment/tissue specificity Mostly in liver and gastrointestinal tract, not found in heart or kidney. liver UBERON:0002107 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 127 3300008109 Rose P18283 2877 GPX2 Homo sapiens 9606 EC 1.11.1.9 Y Y ECO:0000311 EC number UniProtKB AAP 2/6/2013 127 3300008110 Rose P22352 2878 GPX3 Homo sapiens 9606 Comment/tissue specificity Secreted in plasma. blood plasma BTO:0000131 Y Y ECO:0000311 UniProtKB AAP, DGA 1/9/2013 138 3300008113 Rose P22352 2878 GPX3 Homo sapiens 9606 Comment/tissue specificity Secreted in plasma. blood plasma UBERON:0001969 Y Y ECO:0000311 UniProtKB AAP, DGA 1/9/2013 138 3300008114 Rose P22352 2878 GPX3 Homo sapiens 9606 EC 1.11.1.9 Y Y ECO:0000311 EC number UniProtKB AAP, DGA 1/9/2013 138 3300008115 Katie P36969 2879 GPX4 Homo sapiens 9606 Comment/subcellular location Cytoplasm cytoplasm GO:0005737 SL-0086 Y Y ECO:0000311 UniProtKB AAP, DGA 11/28/2012 137 3300008117 Katie P36969 2879 GPX4 Homo sapiens 9606 Comment/tissue specificity Present primarily in testis. testis BTO:0001363 Y Y ECO:0000311 UniProtKB AAP, DGA 11/28/2012 137 3300008118 Katie P36969 2879 GPX4 Homo sapiens 9606 Comment/tissue specificity Present primarily in testis. testis UBERON:0000473 Y Y ECO:0000311 UniProtKB AAP, DGA 11/28/2012 137 3300008119 Katie P36969 2879 GPX4 Homo sapiens 9606 EC 1.11.1.12 Y Y ECO:0000311 EC number UniProtKB AAP, DGA 11/28/2012 137 3300008120 Mike O75715 2880 GPX5 Homo sapiens 9606 Comment/subcellular location Secreted extracellular region GO:0005576 SL-0243 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 110 3300008122 Mike O75715 2880 GPX5 Homo sapiens 9606 Comment/tissue specificity Epididymis. epididymis BTO:0000408 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 110 3300008123 Mike O75715 2880 GPX5 Homo sapiens 9606 Comment/tissue specificity Epididymis. epididymis UBERON:0001301 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 110 3300008124 Mike O75715 2880 GPX5 Homo sapiens 9606 EC 1.11.1.9 Y Y ECO:0000311 EC number UniProtKB AAP 11/28/2012 110 3300008125 Faith P59796 257202 GPX6 Homo sapiens 9606 Comment/subcellular location Secreted extracellular region GO:0005576 SL-0243 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 84 3300008126 Faith P59796 257202 GPX6 Homo sapiens 9606 Comment/tissue specificity Expressed in olfactory epithelium and embryos. embryo BTO:0000379 Y Y ECO:0000006 PubMed:12775843 UniProtKB AAP 2/6/2013 84 3300008127 Faith P59796 257202 GPX6 Homo sapiens 9606 Comment/tissue specificity Expressed in olfactory epithelium and embryos. embryo UBERON:0000922 Y Y ECO:0000006 PubMed:12775843 UniProtKB AAP 2/6/2013 84 3300008128 Faith P59796 257202 GPX6 Homo sapiens 9606 Comment/tissue specificity Expressed in olfactory epithelium and embryos. olfactory epithelium BTO:0000108 Y Y ECO:0000006 PubMed:12775843 UniProtKB AAP 2/6/2013 84 3300008129 Faith P59796 257202 GPX6 Homo sapiens 9606 Comment/tissue specificity Expressed in olfactory epithelium and embryos. olfactory epithelium UBERON:0001997 Y Y ECO:0000006 PubMed:12775843 UniProtKB AAP 2/6/2013 84 3300008130 Faith P59796 257202 GPX6 Homo sapiens 9606 EC 1.11.1.9 Y Y ECO:0000311 EC number UniProtKB AAP 2/6/2013 84 3300008131 Faith Q96SL4 2882 GPX7 Homo sapiens 9606 Comment/Involvement in disease Barrett esophagus (BE) [MIM:614266]: A condition characterized by a metaplastic change in which normal esophageal squamous epithelium is replaced by a columnar and intestinal-type epithelium. Patients with Barrett esophagus have an increased risk of esophageal adenocarcinoma. The main cause of Barrett esophagus is gastroesophageal reflux. The retrograde movement of acid and bile salts from the stomach into the esophagus causes prolonged injury to the esophageal epithelium and induces chronic esophagitis, which in turn is believed to trigger the pathologic changes. Note=The disease is caused by mutations affecting the gene represented in this entry. The pathologic mechanisms leading to Barrett esophagus involve GPX7 dysfunction that results in higher levels of hydrogen peroxide and ROS-induced oxidative stress and DNA damage in esophageal cells. MIM:614266 Barrett's esophagus DOID:9206 The disease is caused by mutations affecting the gene represented in this entry. The pathologic mechanisms leading to Barrett esophagus involve GPX7 dysfunction that results in higher levels of hydrogen peroxide and ROS-induced oxidative stress and DNA damage in esophageal cells. Y Y ECO:0000006 PubMed:22157330 UniProtKB http://purl.bioontology.org/ontology/ICD9CM/530.85 AAP 5/1/2013 108 3300008133 Faith Q96SL4 2882 GPX7 Homo sapiens 9606 Comment/Involvement in disease Barrett esophagus (BE) [MIM:614266]: A condition characterized by a metaplastic change in which normal esophageal squamous epithelium is replaced by a columnar and intestinal-type epithelium. Patients with Barrett esophagus have an increased risk of esophageal adenocarcinoma. The main cause of Barrett esophagus is gastroesophageal reflux. The retrograde movement of acid and bile salts from the stomach into the esophagus causes prolonged injury to the esophageal epithelium and induces chronic esophagitis, which in turn is believed to trigger the pathologic changes. Note=The disease is caused by mutations affecting the gene represented in this entry. The pathologic mechanisms leading to Barrett esophagus involve GPX7 dysfunction that results in higher levels of hydrogen peroxide and ROS-induced oxidative stress and DNA damage in esophageal cells. MIM:614266 Barrett's esophagus SNOMEDCT:302914006 The disease is caused by mutations affecting the gene represented in this entry. The pathologic mechanisms leading to Barrett esophagus involve GPX7 dysfunction that results in higher levels of hydrogen peroxide and ROS-induced oxidative stress and DNA damage in esophageal cells. Y Y ECO:0000006 PubMed:22157330 UniProtKB http://purl.bioontology.org/ontology/ICD9CM/530.85 AAP 5/1/2013 108 3300008134 Faith Q96SL4 2882 GPX7 Homo sapiens 9606 Comment/subcellular location Secreted extracellular region GO:0005576 SL-0243 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 105 3300008136 Faith Q96SL4 2882 GPX7 Homo sapiens 9606 Comment/tissue specificity Expressed in esophageal epithelial cells; expression is up-regulated after exposure to acidic bile acids. esophageal epithelium BTO:0001578 Y Y ECO:0000006 PubMed:22157330 UniProtKB AAP 11/28/2012 105 3300008138 Faith Q96SL4 2882 GPX7 Homo sapiens 9606 Comment/tissue specificity Expressed in esophageal epithelial cells; expression is up-regulated after exposure to acidic bile acids. epithelium of esophagus UBERON:0001976 Y Y ECO:0000006 PubMed:22157330 UniProtKB AAP 11/28/2012 105 3300008139 Faith Q96SL4 2882 GPX7 Homo sapiens 9606 EC 1.11.1.9 Y Y ECO:0000311 EC number UniProtKB AAP 11/28/2012 105 3300008140 Katie/Faith P15428 3248 HPGD Homo sapiens 9606 Comment/induction Down-regulated by cortisol, dexamethasone and betamethasone. Down-regulated in colon cancer. Up-regulated by TGFB1. colon BTO:0000269 colon cancer DOID:219 Y Y ECO:0000006 PubMed:15574495 PubMed:12788907 UniProtKB AAP 2/6/2013 135 3300008142 Katie/Faith P15428 3248 HPGD Homo sapiens 9606 Comment/induction Down-regulated by cortisol, dexamethasone and betamethasone. Down-regulated in colon cancer. Up-regulated by TGFB1. colon UBERON:0001155 colon cancer DOID:219 Y Y ECO:0000006 PubMed:15574495 PubMed:12788907 UniProtKB AAP 2/6/2013 135 3300008143 Katie P15428 3248 HPGD Homo sapiens 9606 Comment/Involvement in disease Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 (PHOAR1) [MIM:259100]: A disease characterized by digital clubbing, periostosis, acroosteolysis, painful joint enlargement, and variable features of pachydermia that include thickened facial skin and a thickened scalp. Other developmental anomalies include delayed closure of the cranial sutures and congenital heart disease. Note=The disease is caused by mutations affecting the gene represented in this entry. MIM:259100 primary hypertrophic osteoarthropathy DOID:14283 The disease is caused by mutations affecting the gene represented in this entry. Y Y ECO:0000006 PubMed:18500342 UniProtKB AAP 5/1/2013 138 3300008148 Katie P15428 3248 HPGD Homo sapiens 9606 Comment/Involvement in disease Cranioosteoarthropathy (COA) [MIM:259100]: A form of osterarthropathy characterized by swelling of the joints, digital clubbing, hyperhidrosis, delayed closure of the fontanels, periostosis, and variable patent ductus arteriosus. Pachydermia is not a prominent feature. Note=The disease is caused by mutations affecting the gene represented in this entry. MIM:259100 primary hypertrophic osteoarthropathy DOID:14283 The disease is caused by mutations affecting the gene represented in this entry. Y Y ECO:0000006 PubMed:18500342 UniProtKB AAP 5/1/2013 138 3300008149 Katie/Rose P15428 3248 HPGD Homo sapiens 9606 Comment/Involvement in disease Isolated congenital nail clubbing (ICNC) [MIM:119900]: A rare genodermatosis characterized by enlargement of the nail plate and terminal segments of the fingers and toes, resulting from proliferation of the connective tissues between the nail matrix and the distal phalanx. It is usually symmetrical and bilateral (in some cases unilateral). In nail clubbing usually the distal end of the nail matrix is relatively high compared to the proximal end, while the nail plate is complete but its dimensions and diameter more or less vary in comparison to normal. There may be different fingers and toes involved to varying degrees. Some fingers or toes are spared, but the thumbs are almost always involved. Note=The disease is caused by mutations affecting the gene represented in this entry. MIM:119900 skin disease DOID:37 The disease is caused by mutations affecting the gene represented in this entry. Y Y ECO:0000006 PubMed:18805827 UniProtKB No HDO term, except genodermatosis = skin disease (best match in HDO) AAP 5/1/2013 138 3300008150 Katie/Rose P15428 3248 HPGD Homo sapiens 9606 Comment/Involvement in disease Isolated congenital nail clubbing (ICNC) [MIM:119900]: A rare genodermatosis characterized by enlargement of the nail plate and terminal segments of the fingers and toes, resulting from proliferation of the connective tissues between the nail matrix and the distal phalanx. It is usually symmetrical and bilateral (in some cases unilateral). In nail clubbing usually the distal end of the nail matrix is relatively high compared to the proximal end, while the nail plate is complete but its dimensions and diameter more or less vary in comparison to normal. There may be different fingers and toes involved to varying degrees. Some fingers or toes are spared, but the thumbs are almost always involved. Note=The disease is caused by mutations affecting the gene represented in this entry. MIM:119900 Hereditary clubbing SNOMEDCT:239055005 The disease is caused by mutations affecting the gene represented in this entry. Y Y ECO:0000006 PubMed:18805827 UniProtKB No HDO term, except genodermatosis = skin disease (best match in HDO) AAP 5/1/2013 138 3300008151 Katie P15428 3248 HPGD Homo sapiens 9606 Comment/tissue specificity Detected in colon epithelium (at protein level). colon BTO:0000269 Y Y ECO:0000006 PubMed:15574495 UniProtKB AAP 2/6/2013 135 3300008153 Katie P15428 3248 HPGD Homo sapiens 9606 Comment/tissue specificity Detected in colon epithelium (at protein level). colonic epithelium UBERON:0000397 Y Y ECO:0000006 PubMed:15574495 UniProtKB AAP 2/6/2013 135 3300008154 Katie P15428 3248 HPGD Homo sapiens 9606 EC 1.1.1.141 Y Y ECO:0000311 EC number UniProtKB AAP 2/6/2013 135 3300008155 Mike O60760 27306 HPGDS Homo sapiens 9606 Comment/tissue specificity Expressed in a number of megakaryocytic cell lines but not in platelets. Highly expressed in adipose tissue, macrophages and placenta. Also expressed at lower levels in lung, heart, lymph nodes, appendix, bone marrow and fetal liver. macrophage BTO:0000801 macrophage CL:0000235 Y Y ECO:0000006 PubMed:10824118 PubMed:11672424 PubMed:9425264 PubMed:9353279 UniProtKB AAP 2/6/2013 124 3300008156 Mike/Faith O60760 27306 HPGDS Homo sapiens 9606 Comment/tissue specificity Expressed in a number of megakaryocytic cell lines but not in platelets. Highly expressed in adipose tissue, macrophages and placenta. Also expressed at lower levels in lung, heart, lymph nodes, appendix, bone marrow and fetal liver. liver BTO:0000759 fetus BTO:0000449 Y Y ECO:0000006 PubMed:10824118 PubMed:11672424 PubMed:9425264 PubMed:9353279 UniProtKB Note that the liver is specified to be fetal, hence the use of the ""fetal organ"" term. AAP 2/6/2013 124 3300008157 Mike/Faith O60760 27306 HPGDS Homo sapiens 9606 Comment/tissue specificity Expressed in a number of megakaryocytic cell lines but not in platelets. Highly expressed in adipose tissue, macrophages and placenta. Also expressed at lower levels in lung, heart, lymph nodes, appendix, bone marrow and fetal liver. liver UBERON:0002107 fetus BTO:0000449 Y Y ECO:0000006 PubMed:10824118 PubMed:11672424 PubMed:9425264 PubMed:9353279 UniProtKB Note that the liver is specified to be fetal, hence the use of the ""fetal organ"" term. AAP 2/6/2013 124 3300008158 Mike O60760 27306 HPGDS Homo sapiens 9606 Comment/tissue specificity Expressed in a number of megakaryocytic cell lines but not in platelets. Highly expressed in adipose tissue, macrophages and placenta. Also expressed at lower levels in lung, heart, lymph nodes, appendix, bone marrow and fetal liver. adipose tissue BTO:0001487 Y Y ECO:0000006 PubMed:10824118 PubMed:11672424 PubMed:9425264 PubMed:9353279 UniProtKB AAP 2/6/2013 124 3300008163 Mike O60760 27306 HPGDS Homo sapiens 9606 Comment/tissue specificity Expressed in a number of megakaryocytic cell lines but not in platelets. Highly expressed in adipose tissue, macrophages and placenta. Also expressed at lower levels in lung, heart, lymph nodes, appendix, bone marrow and fetal liver. adipose tissue UBERON:0001013 Y Y ECO:0000006 PubMed:10824118 PubMed:11672424 PubMed:9425264 PubMed:9353279 UniProtKB AAP 2/6/2013 124 3300008164 Mike/Faith O60760 27306 HPGDS Homo sapiens 9606 Comment/tissue specificity Expressed in a number of megakaryocytic cell lines but not in platelets. Highly expressed in adipose tissue, macrophages and placenta. Also expressed at lower levels in lung, heart, lymph nodes, appendix, bone marrow and fetal liver. bone marrow BTO:0000141 Y Y ECO:0000006 PubMed:10824118 PubMed:11672424 PubMed:9425264 PubMed:9353279 UniProtKB AAP 2/6/2013 124 3300008165 Mike/Faith O60760 27306 HPGDS Homo sapiens 9606 Comment/tissue specificity Expressed in a number of megakaryocytic cell lines but not in platelets. Highly expressed in adipose tissue, macrophages and placenta. Also expressed at lower levels in lung, heart, lymph nodes, appendix, bone marrow and fetal liver. bone marrow UBERON:0002371 Y Y ECO:0000006 PubMed:10824118 PubMed:11672424 PubMed:9425264 PubMed:9353279 UniProtKB AAP 2/6/2013 124 3300008166 Mike/Faith O60760 27306 HPGDS Homo sapiens 9606 Comment/tissue specificity Expressed in a number of megakaryocytic cell lines but not in platelets. Highly expressed in adipose tissue, macrophages and placenta. Also expressed at lower levels in lung, heart, lymph nodes, appendix, bone marrow and fetal liver. heart BTO:0000562 Y Y ECO:0000006 PubMed:10824118 PubMed:11672424 PubMed:9425264 PubMed:9353279 UniProtKB AAP 2/6/2013 124 3300008167 Mike/Faith O60760 27306 HPGDS Homo sapiens 9606 Comment/tissue specificity Expressed in a number of megakaryocytic cell lines but not in platelets. Highly expressed in adipose tissue, macrophages and placenta. Also expressed at lower levels in lung, heart, lymph nodes, appendix, bone marrow and fetal liver. heart UBERON:0000948 Y Y ECO:0000006 PubMed:10824118 PubMed:11672424 PubMed:9425264 PubMed:9353279 UniProtKB AAP 2/6/2013 124 3300008168 Mike/Faith O60760 27306 HPGDS Homo sapiens 9606 Comment/tissue specificity Expressed in a number of megakaryocytic cell lines but not in platelets. Highly expressed in adipose tissue, macrophages and placenta. Also expressed at lower levels in lung, heart, lymph nodes, appendix, bone marrow and fetal liver. lung BTO:0000763 Y Y ECO:0000006 PubMed:10824118 PubMed:11672424 PubMed:9425264 PubMed:9353279 UniProtKB AAP 2/6/2013 124 3300008169 Mike/Faith O60760 27306 HPGDS Homo sapiens 9606 Comment/tissue specificity Expressed in a number of megakaryocytic cell lines but not in platelets. Highly expressed in adipose tissue, macrophages and placenta. Also expressed at lower levels in lung, heart, lymph nodes, appendix, bone marrow and fetal liver. lung UBERON:0002048 Y Y ECO:0000006 PubMed:10824118 PubMed:11672424 PubMed:9425264 PubMed:9353279 UniProtKB AAP 2/6/2013 124 3300008170 Mike/Faith O60760 27306 HPGDS Homo sapiens 9606 Comment/tissue specificity Expressed in a number of megakaryocytic cell lines but not in platelets. Highly expressed in adipose tissue, macrophages and placenta. Also expressed at lower levels in lung, heart, lymph nodes, appendix, bone marrow and fetal liver. lymph node BTO:0000784 Y Y ECO:0000006 PubMed:10824118 PubMed:11672424 PubMed:9425264 PubMed:9353279 UniProtKB AAP 2/6/2013 124 3300008171 Mike/Faith O60760 27306 HPGDS Homo sapiens 9606 Comment/tissue specificity Expressed in a number of megakaryocytic cell lines but not in platelets. Highly expressed in adipose tissue, macrophages and placenta. Also expressed at lower levels in lung, heart, lymph nodes, appendix, bone marrow and fetal liver. lymph node UBERON:0000029 Y Y ECO:0000006 PubMed:10824118 PubMed:11672424 PubMed:9425264 PubMed:9353279 UniProtKB AAP 2/6/2013 124 3300008172 Mike O60760 27306 HPGDS Homo sapiens 9606 Comment/tissue specificity Expressed in a number of megakaryocytic cell lines but not in platelets. Highly expressed in adipose tissue, macrophages and placenta. Also expressed at lower levels in lung, heart, lymph nodes, appendix, bone marrow and fetal liver. megakaryocyte BTO:0000843 Y Y ECO:0000006 PubMed:10824118 PubMed:11672424 PubMed:9425264 PubMed:9353279 UniProtKB AAP 2/6/2013 124 3300008173 Mike O60760 27306 HPGDS Homo sapiens 9606 Comment/tissue specificity Expressed in a number of megakaryocytic cell lines but not in platelets. Highly expressed in adipose tissue, macrophages and placenta. Also expressed at lower levels in lung, heart, lymph nodes, appendix, bone marrow and fetal liver. placenta BTO:0001078 Y Y ECO:0000006 PubMed:10824118 PubMed:11672424 PubMed:9425264 PubMed:9353279 UniProtKB AAP 2/6/2013 124 3300008174 Mike O60760 27306 HPGDS Homo sapiens 9606 Comment/tissue specificity Expressed in a number of megakaryocytic cell lines but not in platelets. Highly expressed in adipose tissue, macrophages and placenta. Also expressed at lower levels in lung, heart, lymph nodes, appendix, bone marrow and fetal liver. placenta UBERON:0001987 Y Y ECO:0000006 PubMed:10824118 PubMed:11672424 PubMed:9425264 PubMed:9353279 UniProtKB AAP 2/6/2013 124 3300008175 Mike/Faith O60760 27306 HPGDS Homo sapiens 9606 Comment/tissue specificity Expressed in a number of megakaryocytic cell lines but not in platelets. Highly expressed in adipose tissue, macrophages and placenta. Also expressed at lower levels in lung, heart, lymph nodes, appendix, bone marrow and fetal liver. vermiform appendix BTO:0000084 Y Y ECO:0000006 PubMed:10824118 PubMed:11672424 PubMed:9425264 PubMed:9353279 UniProtKB AAP 2/6/2013 124 3300008176 Mike/Faith O60760 27306 HPGDS Homo sapiens 9606 Comment/tissue specificity Expressed in a number of megakaryocytic cell lines but not in platelets. Highly expressed in adipose tissue, macrophages and placenta. Also expressed at lower levels in lung, heart, lymph nodes, appendix, bone marrow and fetal liver. vermiform appendix UBERON:0001154 Y Y ECO:0000006 PubMed:10824118 PubMed:11672424 PubMed:9425264 PubMed:9353279 UniProtKB AAP 2/6/2013 124 3300008177 Mike O60760 27306 HPGDS Homo sapiens 9606 EC 5.3.99.2 Y Y ECO:0000311 EC number UniProtKB AAP 2/6/2013 124 3300008178 Mike/Faith P04180 3931 LCAT Homo sapiens 9606 Comment/subcellular location Secreted into blood plasma. Produced in astrocytes and secreted into cerebral spinal fluid (CSF). astrocyte BTO:0000099 astrocyte CL:0000127 Y Y ECO:0000311 UniProtKB remaining annotations covered below. AAP, DGA 11/28/2012 141 3300008179 Mike P04180 3931 LCAT Homo sapiens 9606 Comment/Involvement in disease Lecithin-cholesterol acyltransferase deficiency (LCATD) [MIM:245900]: A disorder of lipoprotein metabolism characterized by inadequate esterification of plasmatic cholesterol. Two clinical forms are recognized: complete LCAT deficiency and fish-eye disease. LCATD is generally referred to the complete form which is associated with absence of both alpha and beta LCAT activities resulting in esterification anomalies involving both HDL (alpha-LCAT activity) and LDL (beta-LCAT activity). It causes a typical triad of diffuse corneal opacities, target cell hemolytic anemia, and proteinuria with renal failure. Note=The disease is caused by mutations affecting the gene represented in this entry. MIM:245900 Norum disease DOID:1391 The disease is caused by mutations affecting the gene represented in this entry. Y Y ECO:0000006 PubMed:2370048 PubMed:1681161 PubMed:1859405 PubMed:8432868 PubMed:8318557 PubMed:7607641 PubMed:7711728 PubMed:8807342 PubMed:9007616 PubMed:9741700 PubMed:11423760 PubMed:12957688 PubMed:15994445 PubMed:16051254 PubMed:16216249 UniProtKB AAP, DGA 5/1/2013 144 3300008181 Mike P04180 3931 LCAT Homo sapiens 9606 Comment/Involvement in disease Fish-eye disease (FED) [MIM:136120]: A disorder of lipoprotein metabolism due to partial lecithin-cholesterol acyltransferase deficiency that affects only alpha-LCAT activity. FED is characterized by low plasma HDL and corneal opacities due to accumulation of cholesterol deposits in the cornea ('fish-eye'). Note=The disease is caused by mutations affecting the gene represented in this entry. MIM:136120 corneal dystrophy DOID:2566 The disease is caused by mutations affecting the gene represented in this entry. Y Y ECO:0000006 PubMed:15994445 PubMed:1571050 PubMed:1737840 PubMed:1516702 PubMed:8620346 PubMed:9261271 PubMed:21901787 UniProtKB The OMIM term is more specific than the HDO term. AAP, DGA 5/1/2013 144 3300008182 Mike P04180 3931 LCAT Homo sapiens 9606 Comment/subcellular location Secreted extracellular region GO:0005576 SL-0243 Y Y ECO:0000311 UniProtKB AAP, DGA 11/28/2012 141 3300008184 Mike P04180 3931 LCAT Homo sapiens 9606 Comment/tissue specificity Expressed mainly in brain, liver and testes. Secreted into plasma and cerebral spinal fluid. Expressed in Hep-G2 cell line. blood plasma BTO:0000131 Y Y ECO:0000006 PubMed:3797244 PubMed:10222237 UniProtKB AAP, DGA 11/28/2012 141 3300008185 Mike P04180 3931 LCAT Homo sapiens 9606 Comment/tissue specificity Expressed mainly in brain, liver and testes. Secreted into plasma and cerebral spinal fluid. Expressed in Hep-G2 cell line. blood plasma UBERON:0001969 Y Y ECO:0000006 PubMed:3797244 PubMed:10222237 UniProtKB AAP, DGA 11/28/2012 141 3300008186 Mike P04180 3931 LCAT Homo sapiens 9606 Comment/tissue specificity Expressed mainly in brain, liver and testes. Secreted into plasma and cerebral spinal fluid. Expressed in Hep-G2 cell line. brain BTO:0000142 Y Y ECO:0000006 PubMed:3797244 PubMed:10222237 UniProtKB AAP, DGA 11/28/2012 141 3300008187 Mike P04180 3931 LCAT Homo sapiens 9606 Comment/tissue specificity Expressed mainly in brain, liver and testes. Secreted into plasma and cerebral spinal fluid. Expressed in Hep-G2 cell line. brain UBERON:0000955 Y Y ECO:0000006 PubMed:3797244 PubMed:10222237 UniProtKB AAP, DGA 11/28/2012 141 3300008188 Mike P04180 3931 LCAT Homo sapiens 9606 Comment/tissue specificity Expressed mainly in brain, liver and testes. Secreted into plasma and cerebral spinal fluid. Expressed in Hep-G2 cell line. cerebrospinal fluid BTO:0000237 Y Y ECO:0000006 PubMed:3797244 PubMed:10222237 UniProtKB AAP, DGA 11/28/2012 141 3300008189 Mike P04180 3931 LCAT Homo sapiens 9606 Comment/tissue specificity Expressed mainly in brain, liver and testes. Secreted into plasma and cerebral spinal fluid. Expressed in Hep-G2 cell line. cerebrospinal fluid UBERON:0001359 Y Y ECO:0000006 PubMed:3797244 PubMed:10222237 UniProtKB AAP, DGA 11/28/2012 141 3300008190 Mike P04180 3931 LCAT Homo sapiens 9606 Comment/tissue specificity Expressed mainly in brain, liver and testes. Secreted into plasma and cerebral spinal fluid. Expressed in Hep-G2 cell line. Hep-G2 cell BTO:0000599 Y Y ECO:0000006 PubMed:3797244 PubMed:10222237 UniProtKB AAP, DGA 11/28/2012 141 3300008191 Mike P04180 3931 LCAT Homo sapiens 9606 Comment/tissue specificity Expressed mainly in brain, liver and testes. Secreted into plasma and cerebral spinal fluid. Expressed in Hep-G2 cell line. liver BTO:0000759 Y Y ECO:0000006 PubMed:3797244 PubMed:10222237 UniProtKB AAP, DGA 11/28/2012 141 3300008192 Mike P04180 3931 LCAT Homo sapiens 9606 Comment/tissue specificity Expressed mainly in brain, liver and testes. Secreted into plasma and cerebral spinal fluid. Expressed in Hep-G2 cell line. liver UBERON:0002107 Y Y ECO:0000006 PubMed:3797244 PubMed:10222237 UniProtKB AAP, DGA 11/28/2012 141 3300008193 Mike P04180 3931 LCAT Homo sapiens 9606 Comment/tissue specificity Expressed mainly in brain, liver and testes. Secreted into plasma and cerebral spinal fluid. Expressed in Hep-G2 cell line. testis BTO:0001363 Y Y ECO:0000006 PubMed:3797244 PubMed:10222237 UniProtKB AAP, DGA 11/28/2012 141 3300008194 Mike P04180 3931 LCAT Homo sapiens 9606 Comment/tissue specificity Expressed mainly in brain, liver and testes. Secreted into plasma and cerebral spinal fluid. Expressed in Hep-G2 cell line. testis UBERON:0000473 Y Y ECO:0000006 PubMed:3797244 PubMed:10222237 UniProtKB AAP, DGA 11/28/2012 141 3300008195 Mike P04180 3931 LCAT Homo sapiens 9606 EC 2.3.1.43 Y Y ECO:0000311 EC number UniProtKB AAP, DGA 11/28/2012 141 3300008196 Rose P38571 3988 LIPA Homo sapiens 9606 Comment/Involvement in disease Cholesteryl ester storage disease (CESD) [MIM:278000]: A mild manifestation of LIPA deficiency, leading to the accumulation of cholesteryl esters and triglycerides in most tissues of the body. It is characterized by late-onset. Note=The disease is caused by mutations affecting the gene represented in this entry. MIM:278000 Wolman disease DOID:14497 The disease is caused by mutations affecting the gene represented in this entry. Y Y ECO:0000006 PubMed:8146180 PubMed:9633819 UniProtKB AAP 5/1/2013 131 3300008198 Rose P38571 3988 LIPA Homo sapiens 9606 Comment/Involvement in disease Cholesteryl ester storage disease (CESD) [MIM:278000]: A mild manifestation of LIPA deficiency, leading to the accumulation of cholesteryl esters and triglycerides in most tissues of the body. It is characterized by late-onset. Note=The disease is caused by mutations affecting the gene represented in this entry. MIM:278000 Wolman's disease SNOMEDCT:82500001 The disease is caused by mutations affecting the gene represented in this entry. Y Y ECO:0000006 PubMed:8146180 PubMed:9633819 UniProtKB AAP 5/1/2013 131 3300008199 Rose P38571 3988 LIPA Homo sapiens 9606 Comment/Involvement in disease Wolman disease (WOD) [MIM:278000]: A severe manifestation of LIPA deficiency, leading to the accumulation of cholesteryl esters and triglycerides in most tissues of the body. WD occurs in infancy and is nearly always fatal before the age of 1 year. Note=The disease is caused by mutations affecting the gene represented in this entry. MIM:278000 Wolman disease DOID:14497 The disease is caused by mutations affecting the gene represented in this entry. Y Y ECO:0000311 UniProtKB AAP 5/1/2013 131 3300008200 Rose P38571 3988 LIPA Homo sapiens 9606 Comment/Involvement in disease Wolman disease (WOD) [MIM:278000]: A severe manifestation of LIPA deficiency, leading to the accumulation of cholesteryl esters and triglycerides in most tissues of the body. WD occurs in infancy and is nearly always fatal before the age of 1 year. Note=The disease is caused by mutations affecting the gene represented in this entry. MIM:278000 Wolman's disease SNOMEDCT:82500001 The disease is caused by mutations affecting the gene represented in this entry. Y Y ECO:0000311 UniProtKB AAP 5/1/2013 131 3300008201 Rose P38571 3988 LIPA Homo sapiens 9606 Comment/subcellular location Lysosome lysosome GO:0005764 SL-0158 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 128 3300008202 Rose P38571 3988 LIPA Homo sapiens 9606 EC 3.1.1.13 Y Y ECO:0000311 EC number UniProtKB AAP 11/28/2012 128 3300008203 Faith Q05469 3991 LIPE Homo sapiens 9606 Comment/pathway Glycerolipid metabolism; triacylglycerol degradation. glycerolipid metabolic process GO:0046486 UPA00230 Y Y ECO:0000311 UniProtKB AAP, DGA 11/28/2012 118 3300008205 Faith Q05469 3991 LIPE Homo sapiens 9606 Comment/subcellular location Caveola caveola GO:0005901 SL-0035 Y Y ECO:0000311 UniProtKB AAP, DGA 11/28/2012 118 3300008206 Faith Q05469 3991 LIPE Homo sapiens 9606 Comment/subcellular location Cytosol cytosol GO:0005829 SL-0091 Y Y ECO:0000311 UniProtKB AAP, DGA 11/28/2012 118 3300008207 Faith Q05469 3991 LIPE Homo sapiens 9606 Comment/subcellular location Cell membrane plasma membrane GO:0005886 SL-0039 Y Y ECO:0000311 UniProtKB AAP, DGA 11/28/2012 118 3300008208 Faith Q05469 3991 LIPE Homo sapiens 9606 Comment/subcellular location Found in the high-density caveolae. Translocates to the cytoplasm from the caveolae upon insulin stimulation. Y Y ECO:0000311 UniProtKB AAP, DGA 11/28/2012 118 3300008209 Faith Q05469 3991 LIPE Homo sapiens 9606 Comment/tissue specificity In adipose tissue and heart, it primarily hydrolyzes stored triglycerides to free fatty acids, while in steroidogenic tissues, it principally converts cholesteryl esters to free cholesterol for steroid hormone production. adipose tissue BTO:0001487 Y Y ECO:0000311 UniProtKB Info extracted from Comment/fuction AAP, DGA 11/28/2012 118 3300008210 Faith Q05469 3991 LIPE Homo sapiens 9606 Comment/tissue specificity In adipose tissue and heart, it primarily hydrolyzes stored triglycerides to free fatty acids, while in steroidogenic tissues, it principally converts cholesteryl esters to free cholesterol for steroid hormone production. adipose tissue UBERON:0001013 Y Y ECO:0000311 UniProtKB Info extracted from Comment/fuction AAP, DGA 11/28/2012 118 3300008211 Faith Q05469 3991 LIPE Homo sapiens 9606 Comment/tissue specificity In adipose tissue and heart, it primarily hydrolyzes stored triglycerides to free fatty acids, while in steroidogenic tissues, it principally converts cholesteryl esters to free cholesterol for steroid hormone production. heart BTO:0000562 Y Y ECO:0000311 UniProtKB Info extracted from Comment/fuction AAP, DGA 11/28/2012 118 3300008212 Faith Q05469 3991 LIPE Homo sapiens 9606 Comment/tissue specificity In adipose tissue and heart, it primarily hydrolyzes stored triglycerides to free fatty acids, while in steroidogenic tissues, it principally converts cholesteryl esters to free cholesterol for steroid hormone production. heart UBERON:0000948 Y Y ECO:0000311 UniProtKB Info extracted from Comment/fuction AAP, DGA 11/28/2012 118 3300008213 Faith Q05469 3991 LIPE Homo sapiens 9606 EC 3.1.1.79 Y Y ECO:0000311 EC number UniProtKB AAP, DGA 11/28/2012 118 3300008215 Katie Q9Y5X9 9388 LIPG Homo sapiens 9606 Comment/subcellular location Secreted extracellular region GO:0005576 SL-0243 Y Y ECO:0000311 UniProtKB AAP, DGA 11/28/2012 117 3300008218 Katie Q9Y5X9 9388 LIPG Homo sapiens 9606 Comment/tissue specificity High level of expression in the liver, placenta, lung, thyroid, kidney, testis and in the corpus luteum of the ovary. Expressed also in coronary artery endothelial cells, umbilical vein endothelial cells and in hepatocytes and osteosarcoma cell lines. Not detected in heart, brain and muscle. coronary artery endothelial cell BTO:0004096 Y Y ECO:0000311 UniProtKB No Uberon term AAP, DGA 11/28/2012 117 3300008219 Katie Q9Y5X9 9388 LIPG Homo sapiens 9606 Comment/tissue specificity High level of expression in the liver, placenta, lung, thyroid, kidney, testis and in the corpus luteum of the ovary. Expressed also in coronary artery endothelial cells, umbilical vein endothelial cells and in hepatocytes and osteosarcoma cell lines. Not detected in heart, brain and muscle. hepatocyte BTO:0000575 Y Y ECO:0000311 UniProtKB No Uberon term AAP, DGA 11/28/2012 117 3300008220 Katie Q9Y5X9 9388 LIPG Homo sapiens 9606 Comment/tissue specificity High level of expression in the liver, placenta, lung, thyroid, kidney, testis and in the corpus luteum of the ovary. Expressed also in coronary artery endothelial cells, umbilical vein endothelial cells and in hepatocytes and osteosarcoma cell lines. Not detected in heart, brain and muscle. osteosarcoma cell line BTO:0000407 Y Y ECO:0000311 UniProtKB No Uberon term AAP, DGA 11/28/2012 117 3300008221 Katie Q9Y5X9 9388 LIPG Homo sapiens 9606 Comment/tissue specificity High level of expression in the liver, placenta, lung, thyroid, kidney, testis and in the corpus luteum of the ovary. Expressed also in coronary artery endothelial cells, umbilical vein endothelial cells and in hepatocytes and osteosarcoma cell lines. Not detected in heart, brain and muscle. umbilical vein endothelial cell BTO:0004296 Y Y ECO:0000311 UniProtKB No Uberon term AAP, DGA 11/28/2012 117 3300008222 Katie Q9Y5X9 9388 LIPG Homo sapiens 9606 Comment/tissue specificity High level of expression in the liver, placenta, lung, thyroid, kidney, testis and in the corpus luteum of the ovary. Expressed also in coronary artery endothelial cells, umbilical vein endothelial cells and in hepatocytes and osteosarcoma cell lines. Not detected in heart, brain and muscle. corpus luteum BTO:0000292 Y Y ECO:0000311 UniProtKB AAP, DGA 11/28/2012 117 3300008224 Katie Q9Y5X9 9388 LIPG Homo sapiens 9606 Comment/tissue specificity High level of expression in the liver, placenta, lung, thyroid, kidney, testis and in the corpus luteum of the ovary. Expressed also in coronary artery endothelial cells, umbilical vein endothelial cells and in hepatocytes and osteosarcoma cell lines. Not detected in heart, brain and muscle. corpus luteum UBERON:0002512 Y Y ECO:0000311 UniProtKB AAP, DGA 11/28/2012 117 3300008225 Katie Q9Y5X9 9388 LIPG Homo sapiens 9606 Comment/tissue specificity High level of expression in the liver, placenta, lung, thyroid, kidney, testis and in the corpus luteum of the ovary. Expressed also in coronary artery endothelial cells, umbilical vein endothelial cells and in hepatocytes and osteosarcoma cell lines. Not detected in heart, brain and muscle. kidney BTO:0000671 Y Y ECO:0000311 UniProtKB AAP, DGA 11/28/2012 117 3300008226 Katie Q9Y5X9 9388 LIPG Homo sapiens 9606 Comment/tissue specificity High level of expression in the liver, placenta, lung, thyroid, kidney, testis and in the corpus luteum of the ovary. Expressed also in coronary artery endothelial cells, umbilical vein endothelial cells and in hepatocytes and osteosarcoma cell lines. Not detected in heart, brain and muscle. kidney UBERON:0002113 Y Y ECO:0000311 UniProtKB AAP, DGA 11/28/2012 117 3300008227 Katie Q9Y5X9 9388 LIPG Homo sapiens 9606 Comment/tissue specificity High level of expression in the liver, placenta, lung, thyroid, kidney, testis and in the corpus luteum of the ovary. Expressed also in coronary artery endothelial cells, umbilical vein endothelial cells and in hepatocytes and osteosarcoma cell lines. Not detected in heart, brain and muscle. liver BTO:0000759 Y Y ECO:0000311 UniProtKB AAP, DGA 11/28/2012 117 3300008228 Katie Q9Y5X9 9388 LIPG Homo sapiens 9606 Comment/tissue specificity High level of expression in the liver, placenta, lung, thyroid, kidney, testis and in the corpus luteum of the ovary. Expressed also in coronary artery endothelial cells, umbilical vein endothelial cells and in hepatocytes and osteosarcoma cell lines. Not detected in heart, brain and muscle. liver UBERON:0002107 Y Y ECO:0000311 UniProtKB AAP, DGA 11/28/2012 117 3300008229 Katie Q9Y5X9 9388 LIPG Homo sapiens 9606 Comment/tissue specificity High level of expression in the liver, placenta, lung, thyroid, kidney, testis and in the corpus luteum of the ovary. Expressed also in coronary artery endothelial cells, umbilical vein endothelial cells and in hepatocytes and osteosarcoma cell lines. Not detected in heart, brain and muscle. lung BTO:0000763 Y Y ECO:0000311 UniProtKB AAP, DGA 11/28/2012 117 3300008230 Katie Q9Y5X9 9388 LIPG Homo sapiens 9606 Comment/tissue specificity High level of expression in the liver, placenta, lung, thyroid, kidney, testis and in the corpus luteum of the ovary. Expressed also in coronary artery endothelial cells, umbilical vein endothelial cells and in hepatocytes and osteosarcoma cell lines. Not detected in heart, brain and muscle. lung UBERON:0002048 Y Y ECO:0000311 UniProtKB AAP, DGA 11/28/2012 117 3300008231 Katie Q9Y5X9 9388 LIPG Homo sapiens 9606 Comment/tissue specificity High level of expression in the liver, placenta, lung, thyroid, kidney, testis and in the corpus luteum of the ovary. Expressed also in coronary artery endothelial cells, umbilical vein endothelial cells and in hepatocytes and osteosarcoma cell lines. Not detected in heart, brain and muscle. placenta BTO:0001078 Y Y ECO:0000311 UniProtKB AAP, DGA 11/28/2012 117 3300008232 Katie Q9Y5X9 9388 LIPG Homo sapiens 9606 Comment/tissue specificity High level of expression in the liver, placenta, lung, thyroid, kidney, testis and in the corpus luteum of the ovary. Expressed also in coronary artery endothelial cells, umbilical vein endothelial cells and in hepatocytes and osteosarcoma cell lines. Not detected in heart, brain and muscle. placenta UBERON:0001987 Y Y ECO:0000311 UniProtKB AAP, DGA 11/28/2012 117 3300008233 Katie Q9Y5X9 9388 LIPG Homo sapiens 9606 Comment/tissue specificity High level of expression in the liver, placenta, lung, thyroid, kidney, testis and in the corpus luteum of the ovary. Expressed also in coronary artery endothelial cells, umbilical vein endothelial cells and in hepatocytes and osteosarcoma cell lines. Not detected in heart, brain and muscle. testis BTO:0001363 Y Y ECO:0000311 UniProtKB AAP, DGA 11/28/2012 117 3300008234 Katie Q9Y5X9 9388 LIPG Homo sapiens 9606 Comment/tissue specificity High level of expression in the liver, placenta, lung, thyroid, kidney, testis and in the corpus luteum of the ovary. Expressed also in coronary artery endothelial cells, umbilical vein endothelial cells and in hepatocytes and osteosarcoma cell lines. Not detected in heart, brain and muscle. testis UBERON:0000473 Y Y ECO:0000311 UniProtKB AAP, DGA 11/28/2012 117 3300008235 Katie Q9Y5X9 9388 LIPG Homo sapiens 9606 Comment/tissue specificity High level of expression in the liver, placenta, lung, thyroid, kidney, testis and in the corpus luteum of the ovary. Expressed also in coronary artery endothelial cells, umbilical vein endothelial cells and in hepatocytes and osteosarcoma cell lines. Not detected in heart, brain and muscle. thyroid gland BTO:0001379 Y Y ECO:0000311 UniProtKB AAP, DGA 11/28/2012 117 3300008236 Katie Q9Y5X9 9388 LIPG Homo sapiens 9606 Comment/tissue specificity High level of expression in the liver, placenta, lung, thyroid, kidney, testis and in the corpus luteum of the ovary. Expressed also in coronary artery endothelial cells, umbilical vein endothelial cells and in hepatocytes and osteosarcoma cell lines. Not detected in heart, brain and muscle. thyroid gland UBERON:0002046 Y Y ECO:0000311 UniProtKB AAP, DGA 11/28/2012 117 3300008237 Katie Q9Y5X9 9388 LIPG Homo sapiens 9606 EC 3.1.1.3 Y Y ECO:0000311 EC number UniProtKB AAP, DGA 11/28/2012 117 3300008238 Faith Q8NF37 79888 LPCAT1 Homo sapiens 9606 Comment/function Possesses both acyltransferase and acetyltransferase activities. Activity is calcium-independent. Mediates the conversion of 1-acyl-sn-glycero-3-phosphocholine (LPC) into phosphatidylcholine (PC). Displays a clear preference for saturated fatty acyl-CoAs, and 1-myristoyl or 1-palmitoyl LPC as acyl donors and acceptors, respectively. May synthesize phosphatidylcholine in pulmonary surfactant, thereby playing a pivotal role in respiratory physiology. Y Y ECO:0000006 PubMed:16864775 UniProtKB AAP 1/9/2013 86 3300008239 Faith Q8NF37 79888 LPCAT1 Homo sapiens 9606 Comment/pathway Lipid metabolism; phospholipid metabolism. lipid metabolic process GO:0006629 UPA00436 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 86 3300008240 Faith Q8NF37 79888 LPCAT1 Homo sapiens 9606 EC 2.3.1.- Y Y ECO:0000311 EC number UniProtKB AAP 1/9/2013 86 3300008244 Faith Q7L5N7 54947 LPCAT2 Homo sapiens 9606 Comment/pathway Lipid metabolism; phospholipid metabolism. lipid metabolic process GO:0006629 UPA00436 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 84 3300008246 Faith Q7L5N7 54947 LPCAT2 Homo sapiens 9606 EC 2.3.1.- Y Y ECO:0000311 EC number UniProtKB AAP 1/9/2013 84 3300008250 Faith Q6P1A2 10162 LPCAT3 Homo sapiens 9606 Comment/tissue specificity Highly expressed in liver, pancreas and adipose tissue. Very low expression in skeletal muscle and heart. Detected in neutrophils. neutrophil BTO:0000130 neutrophil CL:0000775 Y Y ECO:0000006 PubMed:18195019 PubMed:18772128 UniProtKB No Uberon term AAP 1/9/2013 82 3300008251 Faith Q6P1A2 10162 LPCAT3 Homo sapiens 9606 Comment/function Acyltransferase which mediates the conversion of lysophosphatidylcholine (1-acyl-sn-glycero-3-phosphocholine or LPC) into phosphatidylcholine (1,2-diacyl-sn-glycero-3-phosphocholine or PC) (LPCAT activity). Catalyzes also the conversion of lysophosphatidylserine (1-acyl-2-hydroxy-sn-glycero-3-phospho-L-serine or LPS) into phosphatidylserine (1,2-diacyl-sn-glycero-3-phospho-L-serine or PS) (LPSAT activity). Has also weak lysophosphatidylethanolamine acyltransferase activity (LPEAT activity). Favors polyunsaturated fatty acyl-CoAs as acyl donors compared to saturated fatty acyl-CoAs. Seems to be the major enzyme contributing to LPCAT activity in the liver. Lysophospholipid acyltransferases (LPLATs) catalyze the reacylation step of the phospholipid remodeling pathway also known as the Lands cycle. Y Y ECO:0000006 PubMed:18195019 PubMed:18772128 UniProtKB AAP 1/9/2013 82 3300008252 Faith Q6P1A2 10162 LPCAT3 Homo sapiens 9606 Comment/pathway Lipid metabolism; phospholipid metabolism. lipid metabolic process GO:0006629 UPA00436 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 82 3300008253 Faith Q6P1A2 10162 LPCAT3 Homo sapiens 9606 Comment/subcellular location Endoplasmic reticulum membrane;Multi-pass membrane protein endoplasmic reticulum membrane GO:0005789 SL-0097 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 82 3300008255 Faith Q6P1A2 10162 LPCAT3 Homo sapiens 9606 Comment/tissue specificity Highly expressed in liver, pancreas and adipose tissue. Very low expression in skeletal muscle and heart. Detected in neutrophils. adipose tissue BTO:0001487 Y Y ECO:0000006 PubMed:18195019 PubMed:18772128 UniProtKB highly expressed AAP 1/9/2013 82 3300008256 Faith Q6P1A2 10162 LPCAT3 Homo sapiens 9606 Comment/tissue specificity Highly expressed in liver, pancreas and adipose tissue. Very low expression in skeletal muscle and heart. Detected in neutrophils. adipose tissue UBERON:0001013 Y Y ECO:0000006 PubMed:18195019 PubMed:18772128 UniProtKB highly expressed AAP 1/9/2013 82 3300008257 Faith Q6P1A2 10162 LPCAT3 Homo sapiens 9606 Comment/tissue specificity Highly expressed in liver, pancreas and adipose tissue. Very low expression in skeletal muscle and heart. Detected in neutrophils. liver BTO:0000759 Y Y ECO:0000006 PubMed:18195019 PubMed:18772128 UniProtKB highly expressed AAP 1/9/2013 82 3300008258 Faith Q6P1A2 10162 LPCAT3 Homo sapiens 9606 Comment/tissue specificity Highly expressed in liver, pancreas and adipose tissue. Very low expression in skeletal muscle and heart. Detected in neutrophils. liver UBERON:0002107 Y Y ECO:0000006 PubMed:18195019 PubMed:18772128 UniProtKB highly expressed AAP 1/9/2013 82 3300008259 Faith Q6P1A2 10162 LPCAT3 Homo sapiens 9606 Comment/tissue specificity Highly expressed in liver, pancreas and adipose tissue. Very low expression in skeletal muscle and heart. Detected in neutrophils. pancreas BTO:0000988 Y Y ECO:0000006 PubMed:18195019 PubMed:18772128 UniProtKB highly expressed AAP 1/9/2013 82 3300008260 Faith Q6P1A2 10162 LPCAT3 Homo sapiens 9606 Comment/tissue specificity Highly expressed in liver, pancreas and adipose tissue. Very low expression in skeletal muscle and heart. Detected in neutrophils. pancreas UBERON:0001264 Y Y ECO:0000006 PubMed:18195019 PubMed:18772128 UniProtKB highly expressed AAP 1/9/2013 82 3300008261 Faith Q6P1A2 10162 LPCAT3 Homo sapiens 9606 Comment/tissue specificity Highly expressed in liver, pancreas and adipose tissue. Very low expression in skeletal muscle and heart. Detected in neutrophils. heart BTO:0000562 Y Y ECO:0000006 PubMed:18195019 PubMed:18772128 UniProtKB very low expression AAP 1/9/2013 82 3300008262 Faith Q6P1A2 10162 LPCAT3 Homo sapiens 9606 Comment/tissue specificity Highly expressed in liver, pancreas and adipose tissue. Very low expression in skeletal muscle and heart. Detected in neutrophils. heart UBERON:0000948 Y Y ECO:0000006 PubMed:18195019 PubMed:18772128 UniProtKB very low expression AAP 1/9/2013 82 3300008263 Faith Q6P1A2 10162 LPCAT3 Homo sapiens 9606 Comment/tissue specificity Highly expressed in liver, pancreas and adipose tissue. Very low expression in skeletal muscle and heart. Detected in neutrophils. skeletal muscle BTO:0001103 Y Y ECO:0000006 PubMed:18195019 PubMed:18772128 UniProtKB very low expression AAP 1/9/2013 82 3300008264 Faith Q6P1A2 10162 LPCAT3 Homo sapiens 9606 Comment/tissue specificity Highly expressed in liver, pancreas and adipose tissue. Very low expression in skeletal muscle and heart. Detected in neutrophils. skeletal muscle tissue UBERON:0001134 Y Y ECO:0000006 PubMed:18195019 PubMed:18772128 UniProtKB very low expression AAP 1/9/2013 82 3300008265 Faith Q6P1A2 10162 LPCAT3 Homo sapiens 9606 EC 2.3.1.- Y Y ECO:0000311 EC number UniProtKB AAP 1/9/2013 82 3300008266 Mike P09960 4048 LTA4H Homo sapiens 9606 EC 3.3.2.6 Y Y ECO:0000311 EC number UniProtKB AAP 2/6/2013 161 3300008270 Faith Q15722 1241 LTB4R Homo sapiens 9606 Comment/function Receptor for extracellular ATP > UTP and ADP. The activity of this receptor is mediated by G proteins which activate a phosphatidylinositol-calcium second messenger system. May be the cardiac P2Y receptor involved in the regulation of cardiac muscle contraction through modulation of L-type calcium currents. Is a receptor for leukotriene B4, a potent chemoattractant involved in inflammation and immune response. Y Y ECO:0000311 UniProtKB AAP, DGA 1/9/2013 123 3300008271 Faith Q15722 1241 LTB4R Homo sapiens 9606 Comment/subcellular location Cell membrane;Multi-pass membrane protein plasma membrane GO:0005886 SL-0039 Y Y ECO:0000311 UniProtKB AAP, DGA 1/9/2013 123 3300008273 Faith Q15722 1241 LTB4R Homo sapiens 9606 Comment/tissue specificity Expressed at highest levels in heart, skeletal muscle and at lower levels in brain and liver. High level of expression in lymphoid tissues. brain BTO:0000142 Y Y ECO:0000311 UniProtKB Expressed at lower levels in the brain and liver AAP, DGA 1/9/2013 123 3300008274 Faith Q15722 1241 LTB4R Homo sapiens 9606 Comment/tissue specificity Expressed at highest levels in heart, skeletal muscle and at lower levels in brain and liver. High level of expression in lymphoid tissues. brain UBERON:0000955 Y Y ECO:0000311 UniProtKB Expressed at lower levels in the brain and liver AAP, DGA 1/9/2013 123 3300008275 Faith Q15722 1241 LTB4R Homo sapiens 9606 Comment/tissue specificity Expressed at highest levels in heart, skeletal muscle and at lower levels in brain and liver. High level of expression in lymphoid tissues. liver BTO:0000759 Y Y ECO:0000311 UniProtKB Expressed at lower levels in the brain and liver AAP, DGA 1/9/2013 123 3300008276 Faith Q15722 1241 LTB4R Homo sapiens 9606 Comment/tissue specificity Expressed at highest levels in heart, skeletal muscle and at lower levels in brain and liver. High level of expression in lymphoid tissues. liver UBERON:0002107 Y Y ECO:0000311 UniProtKB Expressed at lower levels in the brain and liver AAP, DGA 1/9/2013 123 3300008277 Faith Q15722 1241 LTB4R Homo sapiens 9606 Comment/tissue specificity Expressed at highest levels in heart, skeletal muscle and at lower levels in brain and liver. High level of expression in lymphoid tissues. heart BTO:0000562 Y Y ECO:0000311 UniProtKB Expressed in highest levels in heart and skeletal muscle AAP, DGA 1/9/2013 123 3300008278 Faith Q15722 1241 LTB4R Homo sapiens 9606 Comment/tissue specificity Expressed at highest levels in heart, skeletal muscle and at lower levels in brain and liver. High level of expression in lymphoid tissues. heart UBERON:0000948 Y Y ECO:0000311 UniProtKB Expressed in highest levels in heart and skeletal muscle AAP, DGA 1/9/2013 123 3300008279 Faith Q15722 1241 LTB4R Homo sapiens 9606 Comment/tissue specificity Expressed at highest levels in heart, skeletal muscle and at lower levels in brain and liver. High level of expression in lymphoid tissues. skeletal muscle BTO:0001103 Y Y ECO:0000311 UniProtKB Expressed in highest levels in heart and skeletal muscle AAP, DGA 1/9/2013 123 3300008280 Faith Q15722 1241 LTB4R Homo sapiens 9606 Comment/tissue specificity Expressed at highest levels in heart, skeletal muscle and at lower levels in brain and liver. High level of expression in lymphoid tissues. skeletal muscle tissue UBERON:0001134 Y Y ECO:0000311 UniProtKB Expressed in highest levels in heart and skeletal muscle AAP, DGA 1/9/2013 123 3300008281 Faith Q15722 1241 LTB4R Homo sapiens 9606 Comment/tissue specificity Expressed at highest levels in heart, skeletal muscle and at lower levels in brain and liver. High level of expression in lymphoid tissues. lymphoid tissue BTO:0000753 Y Y ECO:0000311 UniProtKB AAP, DGA 1/9/2013 123 3300008282 Faith Q15722 1241 LTB4R Homo sapiens 9606 Comment/tissue specificity Expressed at highest levels in heart, skeletal muscle and at lower levels in brain and liver. High level of expression in lymphoid tissues. lymphoid tissue UBERON:0001744 Y Y ECO:0000311 UniProtKB AAP, DGA 1/9/2013 123 3300008283 Katie Q9NPC1 56413 LTB4R2 Homo sapiens 9606 Comment/subcellular location Cell membrane;Multi-pass membrane protein plasma membrane GO:0005886 SL-0039 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 107 3300008287 Faith/Rose Q16873 4056 LTC4S Homo sapiens 9606 Comment/tissue specificity Detected in lung, platelets and the myelogenous leukemia cell line KG-1 (at protein level). LTC4S activity is present in eosinophils, basophils, mast cells, certain phagocytic mononuclear cells, endothelial cells, vascular smooth muscle cells and platelets. basophil BTO:0000129 basophil CL:0000767 Y Y ECO:0000006 PubMed:7599836 UniProtKB No Uberon term AAP, DGA 11/28/2012 116 3300008289 Faith/Rose Q16873 4056 LTC4S Homo sapiens 9606 Comment/tissue specificity Detected in lung, platelets and the myelogenous leukemia cell line KG-1 (at protein level). LTC4S activity is present in eosinophils, basophils, mast cells, certain phagocytic mononuclear cells, endothelial cells, vascular smooth muscle cells and platelets. endothelial cell BTO:0001176 endothelial cell CL:0000115 Y Y ECO:0000006 PubMed:7599836 UniProtKB No Uberon term AAP, DGA 11/28/2012 116 3300008290 Faith/Rose Q16873 4056 LTC4S Homo sapiens 9606 Comment/tissue specificity Detected in lung, platelets and the myelogenous leukemia cell line KG-1 (at protein level). LTC4S activity is present in eosinophils, basophils, mast cells, certain phagocytic mononuclear cells, endothelial cells, vascular smooth muscle cells and platelets. eosinophil BTO:0000399 eosinophil CL:0000771 Y Y ECO:0000006 PubMed:7599836 UniProtKB No Uberon term AAP, DGA 11/28/2012 116 3300008291 Faith/Rose Q16873 4056 LTC4S Homo sapiens 9606 Comment/tissue specificity Detected in lung, platelets and the myelogenous leukemia cell line KG-1 (at protein level). LTC4S activity is present in eosinophils, basophils, mast cells, certain phagocytic mononuclear cells, endothelial cells, vascular smooth muscle cells and platelets. mast cell BTO:0000830 mast cell CL:0000097 Y Y ECO:0000006 PubMed:7599836 UniProtKB No Uberon term AAP, DGA 11/28/2012 116 3300008292 Faith/Rose Q16873 4056 LTC4S Homo sapiens 9606 Comment/tissue specificity Detected in lung, platelets and the myelogenous leukemia cell line KG-1 (at protein level). LTC4S activity is present in eosinophils, basophils, mast cells, certain phagocytic mononuclear cells, endothelial cells, vascular smooth muscle cells and platelets. mononuclear phagocyte BTO:0001433 mononuclear phagocyte CL:0000113 Y Y ECO:0000006 PubMed:7599836 UniProtKB No Uberon term; 'certain' suggest that it is not present in all mononuclear phagocytes AAP, DGA 11/28/2012 116 3300008293 Faith/Rose Q16873 4056 LTC4S Homo sapiens 9606 Comment/tissue specificity Detected in lung, platelets and the myelogenous leukemia cell line KG-1 (at protein level). LTC4S activity is present in eosinophils, basophils, mast cells, certain phagocytic mononuclear cells, endothelial cells, vascular smooth muscle cells and platelets. KG-1 cell BTO:0000670 myeloid cell CL:0000763 KG-1 cell CLO:0007094 Y Y ECO:0000006 PubMed:7599836 UniProtKB No Uberon term AAP, DGA 11/28/2012 116 3300008294 Faith/Rose Q16873 4056 LTC4S Homo sapiens 9606 Comment/tissue specificity Detected in lung, platelets and the myelogenous leukemia cell line KG-1 (at protein level). LTC4S activity is present in eosinophils, basophils, mast cells, certain phagocytic mononuclear cells, endothelial cells, vascular smooth muscle cells and platelets. blood platelet BTO:0000132 platelet CL:0000233 Y Y ECO:0000006 PubMed:7599836 UniProtKB No Uberon term AAP, DGA 11/28/2012 116 3300008295 Faith Q16873 4056 LTC4S Homo sapiens 9606 Comment/Involvement in disease Leukotriene C4 synthase deficiency (LTC4 synthase deficiency) [MIM:246530]: Fatal neurometabolic developmental disorder. It is associated with muscular hypotonia, psychomotor retardation, failure to thrive, and microcephaly. Note=The disease is caused by mutations affecting the gene represented in this entry. intrinsic asthma DOID:9360 The disease is caused by mutations affecting the gene represented in this entry. Y Y ECO:0000311 UniProtKB The deficiency phenotype is MIM:614037. Two cases of the deficiency are described and these patients died at the age of 6 months. For the MIM given, several diseases are discussed: aspirin intolerant asthma (MIM:208550) (patients display increased LTC4S expression and have a promoter polymorphism). I added the second MIM term. HDO does not have a term that captures the 'aspirin' effect in asthma. ICD has various intrinsic asthma terms, none aspirin related AAP, DGA 5/1/2013 119 3300008297 Faith Q16873 4056 LTC4S Homo sapiens 9606 Comment/Involvement in disease Leukotriene C4 synthase deficiency (LTC4 synthase deficiency) [MIM:246530]: Fatal neurometabolic developmental disorder. It is associated with muscular hypotonia, psychomotor retardation, failure to thrive, and microcephaly. Note=The disease is caused by mutations affecting the gene represented in this entry. Aspirin-sensitive asthma with nasal polyps SNOMEDCT:233686006 The disease is caused by mutations affecting the gene represented in this entry. Y Y ECO:0000311 UniProtKB The deficiency phenotype is MIM:614037. Two cases of the deficiency are described and these patients died at the age of 6 months. For the MIM given, several diseases are discussed: aspirin intolerant asthma (MIM:208550) (patients display increased LTC4S expression and have a promoter polymorphism). I added the second MIM term. HDO does not have a term that captures the 'aspirin' effect in asthma. ICD has various intrinsic asthma terms, none aspirin related AAP, DGA 5/1/2013 119 3300008298 Faith Q16873 4056 LTC4S Homo sapiens 9606 Comment/subcellular location Nucleus outer membrane;Multi-pass membrane protein nuclear outer membrane GO:0005640 SL-0183 Y Y ECO:0000311 UniProtKB AAP, DGA 11/28/2012 116 3300008300 Faith/Rose Q16873 4056 LTC4S Homo sapiens 9606 Comment/tissue specificity Detected in lung, platelets and the myelogenous leukemia cell line KG-1 (at protein level). LTC4S activity is present in eosinophils, basophils, mast cells, certain phagocytic mononuclear cells, endothelial cells, vascular smooth muscle cells and platelets. vascular smooth muscle cell BTO:0004578 Y Y ECO:0000006 PubMed:7599836 UniProtKB No Uberon term AAP, DGA 11/28/2012 116 3300008301 Faith/Rose Q16873 4056 LTC4S Homo sapiens 9606 Comment/tissue specificity Detected in lung, platelets and the myelogenous leukemia cell line KG-1 (at protein level). LTC4S activity is present in eosinophils, basophils, mast cells, certain phagocytic mononuclear cells, endothelial cells, vascular smooth muscle cells and platelets. blood vessel smooth muscle UBERON:0004237 Y Y ECO:0000006 PubMed:7599836 UniProtKB No Uberon term AAP, DGA 11/28/2012 116 3300008302 Faith Q16873 4056 LTC4S Homo sapiens 9606 Comment/tissue specificity Detected in lung, platelets and the myelogenous leukemia cell line KG-1 (at protein level). LTC4S activity is present in eosinophils, basophils, mast cells, certain phagocytic mononuclear cells, endothelial cells, vascular smooth muscle cells and platelets. lung BTO:0000763 Y Y ECO:0000006 PubMed:7599836 UniProtKB AAP, DGA 11/28/2012 116 3300008303 Faith Q16873 4056 LTC4S Homo sapiens 9606 Comment/tissue specificity Detected in lung, platelets and the myelogenous leukemia cell line KG-1 (at protein level). LTC4S activity is present in eosinophils, basophils, mast cells, certain phagocytic mononuclear cells, endothelial cells, vascular smooth muscle cells and platelets. lung UBERON:0002048 Y Y ECO:0000006 PubMed:7599836 UniProtKB AAP, DGA 11/28/2012 116 3300008304 Faith Q16873 4056 LTC4S Homo sapiens 9606 EC 4.4.1.20 Y Y ECO:0000311 EC number UniProtKB AAP, DGA 11/28/2012 116 3300008305 Katie P49137 9261 MAPKAPK2 Homo sapiens 9606 EC 2.7.11.1 Y Y ECO:0000311 EC number UniProtKB AAP 11/28/2012 134 3300008311 Faith Q96N66 79143 MBOAT7 Homo sapiens 9606 Comment/function Acyltransferase which mediates the conversion of lysophosphatidylinositol (1-acylglycerophosphatidylinositol or LPI) into phosphatidylinositol (1,2-diacyl-sn-glycero-3-phosphoinositol or PI) (LPIAT activity). Prefers arachidonoyl-CoA as the acyl donor. Lysophospholipid acyltransferases (LPLATs) catalyze the reacylation step of the phospholipid remodeling pathway also known as the Lands cycle. Y Y ECO:0000006 PubMed:18094042 PubMed:18772128 UniProtKB AAP 11/28/2012 74 3300008312 Faith Q96N66 79143 MBOAT7 Homo sapiens 9606 Comment/pathway Lipid metabolism; phospholipid metabolism. lipid metabolic process GO:0006629 UPA00436 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 74 3300008313 Faith Q96N66 79143 MBOAT7 Homo sapiens 9606 Comment/tissue specificity Overexpressed in metastatic breast and bladder carcinomas relative to normal breast epithelium and urothelium. breast epithelium BTO:0001428 breast carcinoma DOID:3459 Carcinoma of breast SNOMEDCT:254838004 Y Y ECO:0000006 PubMed:8702217 UniProtKB PubMed:18772128 (ref 7 in UniProt) is linked to this information in UniProt, but is not correct. I've added the correct reference, and I'll email them. SNOMED has attributes 'metastatic to' and 'metastatic from'. OVEREXPRESSED AAP 11/28/2012 74 3300008316 Faith Q96N66 79143 MBOAT7 Homo sapiens 9606 Comment/tissue specificity Overexpressed in metastatic breast and bladder carcinomas relative to normal breast epithelium and urothelium. breast epithelium UBERON:0008367 breast carcinoma DOID:3459 Carcinoma of breast SNOMEDCT:254838004 Y Y ECO:0000006 PubMed:8702217 UniProtKB PubMed:18772128 (ref 7 in UniProt) is linked to this information in UniProt, but is not correct. I've added the correct reference, and I'll email them. SNOMED has attributes 'metastatic to' and 'metastatic from'. OVEREXPRESSED AAP 11/28/2012 74 3300008317 Faith Q96N66 79143 MBOAT7 Homo sapiens 9606 Comment/tissue specificity Overexpressed in metastatic breast and bladder carcinomas relative to normal breast epithelium and urothelium. uroepithelium BTO:0003906 bladder carcinoma DOID:4007 Carcinoma of bladder SNOMEDCT:255108000 Y Y ECO:0000006 PubMed:8702217 UniProtKB PubMed:18772128 (ref 7 in UniProt) is linked to this information in UniProt, but is not correct. I've added the correct reference, and I'll email them. OVEREXPRESSED AAP 11/28/2012 74 3300008318 Faith Q96N66 79143 MBOAT7 Homo sapiens 9606 Comment/tissue specificity Overexpressed in metastatic breast and bladder carcinomas relative to normal breast epithelium and urothelium. urothelium UBERON:0000365 bladder carcinoma DOID:4007 Carcinoma of bladder SNOMEDCT:255108000 Y Y ECO:0000006 PubMed:8702217 UniProtKB PubMed:18772128 (ref 7 in UniProt) is linked to this information in UniProt, but is not correct. I've added the correct reference, and I'll email them. OVEREXPRESSED AAP 11/28/2012 74 3300008319 Faith/Rose Q96N66 79143 MBOAT7 Homo sapiens 9606 Comment/tissue specificity Overexpressed in metastatic breast and bladder carcinomas relative to normal breast epithelium and urothelium. breast epithelium BTO:0001428 Y Y ECO:0000006 PubMed:8702217 UniProtKB PubMed:18772128 (ref 7 in UniProt) is linked to this information in UniProt, but is not correct. I've added the correct reference, and I'll email them. AAP 11/28/2012 74 3300008320 Faith/Rose Q96N66 79143 MBOAT7 Homo sapiens 9606 Comment/tissue specificity Overexpressed in metastatic breast and bladder carcinomas relative to normal breast epithelium and urothelium. breast epithelium UBERON:0008367 Y Y ECO:0000006 PubMed:8702217 UniProtKB PubMed:18772128 (ref 7 in UniProt) is linked to this information in UniProt, but is not correct. I've added the correct reference, and I'll email them. AAP 11/28/2012 74 3300008321 Faith/Rose Q96N66 79143 MBOAT7 Homo sapiens 9606 Comment/tissue specificity Overexpressed in metastatic breast and bladder carcinomas relative to normal breast epithelium and urothelium. uroepithelium BTO:0003906 Y Y ECO:0000006 PubMed:8702217 UniProtKB PubMed:18772128 (ref 7 in UniProt) is linked to this information in UniProt, but is not correct. I've added the correct reference, and I'll email them. AAP 11/28/2012 74 3300008322 Faith/Rose Q96N66 79143 MBOAT7 Homo sapiens 9606 Comment/tissue specificity Overexpressed in metastatic breast and bladder carcinomas relative to normal breast epithelium and urothelium. urothelium UBERON:0000365 Y Y ECO:0000006 PubMed:8702217 UniProtKB PubMed:18772128 (ref 7 in UniProt) is linked to this information in UniProt, but is not correct. I've added the correct reference, and I'll email them. AAP 11/28/2012 74 3300008323 Faith Q96N66 79143 MBOAT7 Homo sapiens 9606 EC 2.3.1.- Y Y ECO:0000311 EC number UniProtKB AAP 11/28/2012 74 3300008324 Faith Q99735 4258 MGST2 Homo sapiens 9606 EC 2.5.1.18 Y Y EC number UniProtKB AAP 4/3/2013 110 3300008325 Faith Q99735 4258 MGST2 Homo sapiens 9606 Comment/tissue specificity Liver, spleen, skeletal muscle, heart, adrenals, pancreas, prostate, testis, fetal liver, and fetal spleen. Very low expression in lung, brain, placenta and bone marrow. liver BTO:0000759 Y Y UniProtKB AAP 4/3/2013 110 3300008329 Faith Q99735 4258 MGST2 Homo sapiens 9606 Comment/tissue specificity Liver, spleen, skeletal muscle, heart, adrenals, pancreas, prostate, testis, fetal liver, and fetal spleen. Very low expression in lung, brain, placenta and bone marrow. liver UBERON:0002107 Y Y UniProtKB AAP 4/3/2013 110 3300008330 Faith Q99735 4258 MGST2 Homo sapiens 9606 Comment/tissue specificity Liver, spleen, skeletal muscle, heart, adrenals, pancreas, prostate, testis, fetal liver, and fetal spleen. Very low expression in lung, brain, placenta and bone marrow. spleen BTO:0001281 Y Y UniProtKB AAP 4/3/2013 110 3300008331 Faith Q99735 4258 MGST2 Homo sapiens 9606 Comment/tissue specificity Liver, spleen, skeletal muscle, heart, adrenals, pancreas, prostate, testis, fetal liver, and fetal spleen. Very low expression in lung, brain, placenta and bone marrow. spleen UBERON:0002106 Y Y UniProtKB AAP 4/3/2013 110 3300008332 Faith Q99735 4258 MGST2 Homo sapiens 9606 Comment/tissue specificity Liver, spleen, skeletal muscle, heart, adrenals, pancreas, prostate, testis, fetal liver, and fetal spleen. Very low expression in lung, brain, placenta and bone marrow. skeletal muscle BTO:0001103 Y Y UniProtKB AAP 4/3/2013 110 3300008333 Faith Q99735 4258 MGST2 Homo sapiens 9606 Comment/tissue specificity Liver, spleen, skeletal muscle, heart, adrenals, pancreas, prostate, testis, fetal liver, and fetal spleen. Very low expression in lung, brain, placenta and bone marrow. skeletal muscle tissue UBERON:0001134 Y Y UniProtKB AAP 4/3/2013 110 3300008334 Faith Q99735 4258 MGST2 Homo sapiens 9606 Comment/tissue specificity Liver, spleen, skeletal muscle, heart, adrenals, pancreas, prostate, testis, fetal liver, and fetal spleen. Very low expression in lung, brain, placenta and bone marrow. heart BTO:0000562 Y Y UniProtKB AAP 4/3/2013 110 3300008335 Faith Q99735 4258 MGST2 Homo sapiens 9606 Comment/tissue specificity Liver, spleen, skeletal muscle, heart, adrenals, pancreas, prostate, testis, fetal liver, and fetal spleen. Very low expression in lung, brain, placenta and bone marrow. heart UBERON:0000948 Y Y UniProtKB AAP 4/3/2013 110 3300008336 Faith Q99735 4258 MGST2 Homo sapiens 9606 Comment/tissue specificity Liver, spleen, skeletal muscle, heart, adrenals, pancreas, prostate, testis, fetal liver, and fetal spleen. Very low expression in lung, brain, placenta and bone marrow. adrenal gland BTO:0000047 Y Y UniProtKB AAP 4/3/2013 110 3300008337 Faith Q99735 4258 MGST2 Homo sapiens 9606 Comment/tissue specificity Liver, spleen, skeletal muscle, heart, adrenals, pancreas, prostate, testis, fetal liver, and fetal spleen. Very low expression in lung, brain, placenta and bone marrow. adrenal gland UBERON:0002369 Y Y UniProtKB AAP 4/3/2013 110 3300008338 Faith Q99735 4258 MGST2 Homo sapiens 9606 Comment/tissue specificity Liver, spleen, skeletal muscle, heart, adrenals, pancreas, prostate, testis, fetal liver, and fetal spleen. Very low expression in lung, brain, placenta and bone marrow. pancreas BTO:0000988 Y Y UniProtKB AAP 4/3/2013 110 3300008339 Faith Q99735 4258 MGST2 Homo sapiens 9606 Comment/tissue specificity Liver, spleen, skeletal muscle, heart, adrenals, pancreas, prostate, testis, fetal liver, and fetal spleen. Very low expression in lung, brain, placenta and bone marrow. pancreas UBERON:0001264 Y Y UniProtKB AAP 4/3/2013 110 3300008340 Faith Q99735 4258 MGST2 Homo sapiens 9606 Comment/tissue specificity Liver, spleen, skeletal muscle, heart, adrenals, pancreas, prostate, testis, fetal liver, and fetal spleen. Very low expression in lung, brain, placenta and bone marrow. prostate gland BTO:0001129 Y Y UniProtKB AAP 4/3/2013 110 3300008341 Faith Q99735 4258 MGST2 Homo sapiens 9606 Comment/tissue specificity Liver, spleen, skeletal muscle, heart, adrenals, pancreas, prostate, testis, fetal liver, and fetal spleen. Very low expression in lung, brain, placenta and bone marrow. prostate gland UBERON:0002367 Y Y UniProtKB AAP 4/3/2013 110 3300008342 Faith Q99735 4258 MGST2 Homo sapiens 9606 Comment/tissue specificity Liver, spleen, skeletal muscle, heart, adrenals, pancreas, prostate, testis, fetal liver, and fetal spleen. Very low expression in lung, brain, placenta and bone marrow. testis BTO:0001363 Y Y UniProtKB AAP 4/3/2013 110 3300008343 Faith Q99735 4258 MGST2 Homo sapiens 9606 Comment/tissue specificity Liver, spleen, skeletal muscle, heart, adrenals, pancreas, prostate, testis, fetal liver, and fetal spleen. Very low expression in lung, brain, placenta and bone marrow. testis UBERON:0000473 Y Y UniProtKB AAP 4/3/2013 110 3300008344 Faith Q99735 4258 MGST2 Homo sapiens 9606 Comment/tissue specificity Liver, spleen, skeletal muscle, heart, adrenals, pancreas, prostate, testis, fetal liver, and fetal spleen. Very low expression in lung, brain, placenta and bone marrow. liver BTO:0000759 fetus BTO:0000449 Y Y UniProtKB AAP 4/3/2013 110 3300008345 Faith Q99735 4258 MGST2 Homo sapiens 9606 Comment/tissue specificity Liver, spleen, skeletal muscle, heart, adrenals, pancreas, prostate, testis, fetal liver, and fetal spleen. Very low expression in lung, brain, placenta and bone marrow. liver UBERON:0002107 fetus BTO:0000449 Y Y UniProtKB AAP 4/3/2013 110 3300008346 Faith Q99735 4258 MGST2 Homo sapiens 9606 Comment/tissue specificity Liver, spleen, skeletal muscle, heart, adrenals, pancreas, prostate, testis, fetal liver, and fetal spleen. Very low expression in lung, brain, placenta and bone marrow. lung BTO:0000763 Y Y UniProtKB very low expression AAP 4/3/2013 110 3300008347 Faith Q99735 4258 MGST2 Homo sapiens 9606 Comment/tissue specificity Liver, spleen, skeletal muscle, heart, adrenals, pancreas, prostate, testis, fetal liver, and fetal spleen. Very low expression in lung, brain, placenta and bone marrow. lung UBERON:0002048 Y Y UniProtKB very low expression AAP 4/3/2013 110 3300008348 Faith Q99735 4258 MGST2 Homo sapiens 9606 Comment/tissue specificity Liver, spleen, skeletal muscle, heart, adrenals, pancreas, prostate, testis, fetal liver, and fetal spleen. Very low expression in lung, brain, placenta and bone marrow. brain BTO:0000142 Y Y UniProtKB very low expression AAP 4/3/2013 110 3300008349 Faith Q99735 4258 MGST2 Homo sapiens 9606 Comment/tissue specificity Liver, spleen, skeletal muscle, heart, adrenals, pancreas, prostate, testis, fetal liver, and fetal spleen. Very low expression in lung, brain, placenta and bone marrow. brain UBERON:0000955 Y Y UniProtKB very low expression AAP 4/3/2013 110 3300008350 Faith Q99735 4258 MGST2 Homo sapiens 9606 Comment/tissue specificity Liver, spleen, skeletal muscle, heart, adrenals, pancreas, prostate, testis, fetal liver, and fetal spleen. Very low expression in lung, brain, placenta and bone marrow. placenta BTO:0001078 Y Y UniProtKB very low expression AAP 4/3/2013 110 3300008351 Faith Q99735 4258 MGST2 Homo sapiens 9606 Comment/tissue specificity Liver, spleen, skeletal muscle, heart, adrenals, pancreas, prostate, testis, fetal liver, and fetal spleen. Very low expression in lung, brain, placenta and bone marrow. placenta UBERON:0001987 Y Y UniProtKB very low expression AAP 4/3/2013 110 3300008352 Faith Q99735 4258 MGST2 Homo sapiens 9606 Comment/tissue specificity Liver, spleen, skeletal muscle, heart, adrenals, pancreas, prostate, testis, fetal liver, and fetal spleen. Very low expression in lung, brain, placenta and bone marrow. bone marrow BTO:0000141 Y Y UniProtKB very low expression AAP 4/3/2013 110 3300008353 Faith Q99735 4258 MGST2 Homo sapiens 9606 Comment/tissue specificity Liver, spleen, skeletal muscle, heart, adrenals, pancreas, prostate, testis, fetal liver, and fetal spleen. Very low expression in lung, brain, placenta and bone marrow. bone marrow UBERON:0002371 Y Y UniProtKB very low expression AAP 4/3/2013 110 3300008354 Faith O14880 4259 MGST3 Homo sapiens 9606 EC 2.5.1.18 Y Y EC number UniProtKB AAP 4/3/2013 110 3300008355 Faith O14880 4259 MGST3 Homo sapiens 9606 Comment/tissue specificity Predominantly expressed in heart, skeletal muscle, and adrenal cortex. Also found in brain, placenta, liver, kidney, pancreas, thyroid, testis and ovary. Almost absent in lung, thymus and peripheral blood leukocytes. heart BTO:0000562 Y Y UniProtKB AAP 4/3/2013 110 3300008360 Faith O14880 4259 MGST3 Homo sapiens 9606 Comment/tissue specificity Predominantly expressed in heart, skeletal muscle, and adrenal cortex. Also found in brain, placenta, liver, kidney, pancreas, thyroid, testis and ovary. Almost absent in lung, thymus and peripheral blood leukocytes. heart UBERON:0000948 Y Y UniProtKB AAP 4/3/2013 110 3300008361 Faith O14880 4259 MGST3 Homo sapiens 9606 Comment/tissue specificity Predominantly expressed in heart, skeletal muscle, and adrenal cortex. Also found in brain, placenta, liver, kidney, pancreas, thyroid, testis and ovary. Almost absent in lung, thymus and peripheral blood leukocytes. skeletal muscle BTO:0001103 Y Y UniProtKB AAP 4/3/2013 110 3300008362 Faith O14880 4259 MGST3 Homo sapiens 9606 Comment/tissue specificity Predominantly expressed in heart, skeletal muscle, and adrenal cortex. Also found in brain, placenta, liver, kidney, pancreas, thyroid, testis and ovary. Almost absent in lung, thymus and peripheral blood leukocytes. skeletal muscle tissue UBERON:0001134 Y Y UniProtKB AAP 4/3/2013 110 3300008363 Faith O14880 4259 MGST3 Homo sapiens 9606 Comment/tissue specificity Predominantly expressed in heart, skeletal muscle, and adrenal cortex. Also found in brain, placenta, liver, kidney, pancreas, thyroid, testis and ovary. Almost absent in lung, thymus and peripheral blood leukocytes. adrenal cortex BTO:0000045 Y Y UniProtKB AAP 4/3/2013 110 3300008364 Faith O14880 4259 MGST3 Homo sapiens 9606 Comment/tissue specificity Predominantly expressed in heart, skeletal muscle, and adrenal cortex. Also found in brain, placenta, liver, kidney, pancreas, thyroid, testis and ovary. Almost absent in lung, thymus and peripheral blood leukocytes. adrenal cortex UBERON:0001235 Y Y UniProtKB AAP 4/3/2013 110 3300008365 Faith O14880 4259 MGST3 Homo sapiens 9606 Comment/tissue specificity Predominantly expressed in heart, skeletal muscle, and adrenal cortex. Also found in brain, placenta, liver, kidney, pancreas, thyroid, testis and ovary. Almost absent in lung, thymus and peripheral blood leukocytes. brain BTO:0000142 Y Y UniProtKB AAP 4/3/2013 110 3300008366 Faith O14880 4259 MGST3 Homo sapiens 9606 Comment/tissue specificity Predominantly expressed in heart, skeletal muscle, and adrenal cortex. Also found in brain, placenta, liver, kidney, pancreas, thyroid, testis and ovary. Almost absent in lung, thymus and peripheral blood leukocytes. brain UBERON:0000955 Y Y UniProtKB AAP 4/3/2013 110 3300008367 Faith O14880 4259 MGST3 Homo sapiens 9606 Comment/tissue specificity Predominantly expressed in heart, skeletal muscle, and adrenal cortex. Also found in brain, placenta, liver, kidney, pancreas, thyroid, testis and ovary. Almost absent in lung, thymus and peripheral blood leukocytes. placenta BTO:0001078 Y Y UniProtKB AAP 4/3/2013 110 3300008368 Faith O14880 4259 MGST3 Homo sapiens 9606 Comment/tissue specificity Predominantly expressed in heart, skeletal muscle, and adrenal cortex. Also found in brain, placenta, liver, kidney, pancreas, thyroid, testis and ovary. Almost absent in lung, thymus and peripheral blood leukocytes. placenta UBERON:0001987 Y Y UniProtKB AAP 4/3/2013 110 3300008369 Faith O14880 4259 MGST3 Homo sapiens 9606 Comment/tissue specificity Predominantly expressed in heart, skeletal muscle, and adrenal cortex. Also found in brain, placenta, liver, kidney, pancreas, thyroid, testis and ovary. Almost absent in lung, thymus and peripheral blood leukocytes. liver BTO:0000759 Y Y UniProtKB AAP 4/3/2013 110 3300008370 Faith O14880 4259 MGST3 Homo sapiens 9606 Comment/tissue specificity Predominantly expressed in heart, skeletal muscle, and adrenal cortex. Also found in brain, placenta, liver, kidney, pancreas, thyroid, testis and ovary. Almost absent in lung, thymus and peripheral blood leukocytes. liver UBERON:0002107 Y Y UniProtKB AAP 4/3/2013 110 3300008371 Faith O14880 4259 MGST3 Homo sapiens 9606 Comment/tissue specificity Predominantly expressed in heart, skeletal muscle, and adrenal cortex. Also found in brain, placenta, liver, kidney, pancreas, thyroid, testis and ovary. Almost absent in lung, thymus and peripheral blood leukocytes. kidney BTO:0000671 Y Y UniProtKB AAP 4/3/2013 110 3300008372 Faith O14880 4259 MGST3 Homo sapiens 9606 Comment/tissue specificity Predominantly expressed in heart, skeletal muscle, and adrenal cortex. Also found in brain, placenta, liver, kidney, pancreas, thyroid, testis and ovary. Almost absent in lung, thymus and peripheral blood leukocytes. kidney UBERON:0002113 Y Y UniProtKB AAP 4/3/2013 110 3300008373 Faith O14880 4259 MGST3 Homo sapiens 9606 Comment/tissue specificity Predominantly expressed in heart, skeletal muscle, and adrenal cortex. Also found in brain, placenta, liver, kidney, pancreas, thyroid, testis and ovary. Almost absent in lung, thymus and peripheral blood leukocytes. pancreas BTO:0000988 Y Y UniProtKB AAP 4/3/2013 110 3300008374 Faith O14880 4259 MGST3 Homo sapiens 9606 Comment/tissue specificity Predominantly expressed in heart, skeletal muscle, and adrenal cortex. Also found in brain, placenta, liver, kidney, pancreas, thyroid, testis and ovary. Almost absent in lung, thymus and peripheral blood leukocytes. pancreas UBERON:0001264 Y Y UniProtKB AAP 4/3/2013 110 3300008375 Faith O14880 4259 MGST3 Homo sapiens 9606 Comment/tissue specificity Predominantly expressed in heart, skeletal muscle, and adrenal cortex. Also found in brain, placenta, liver, kidney, pancreas, thyroid, testis and ovary. Almost absent in lung, thymus and peripheral blood leukocytes. thyroid gland BTO:0001379 Y Y UniProtKB AAP 4/3/2013 110 3300008376 Faith O14880 4259 MGST3 Homo sapiens 9606 Comment/tissue specificity Predominantly expressed in heart, skeletal muscle, and adrenal cortex. Also found in brain, placenta, liver, kidney, pancreas, thyroid, testis and ovary. Almost absent in lung, thymus and peripheral blood leukocytes. thyroid gland UBERON:0002046 Y Y UniProtKB AAP 4/3/2013 110 3300008377 Faith O14880 4259 MGST3 Homo sapiens 9606 Comment/tissue specificity Predominantly expressed in heart, skeletal muscle, and adrenal cortex. Also found in brain, placenta, liver, kidney, pancreas, thyroid, testis and ovary. Almost absent in lung, thymus and peripheral blood leukocytes. testis BTO:0001363 Y Y UniProtKB AAP 4/3/2013 110 3300008378 Faith O14880 4259 MGST3 Homo sapiens 9606 Comment/tissue specificity Predominantly expressed in heart, skeletal muscle, and adrenal cortex. Also found in brain, placenta, liver, kidney, pancreas, thyroid, testis and ovary. Almost absent in lung, thymus and peripheral blood leukocytes. testis UBERON:0000473 Y Y UniProtKB AAP 4/3/2013 110 3300008379 Faith O14880 4259 MGST3 Homo sapiens 9606 Comment/tissue specificity Predominantly expressed in heart, skeletal muscle, and adrenal cortex. Also found in brain, placenta, liver, kidney, pancreas, thyroid, testis and ovary. Almost absent in lung, thymus and peripheral blood leukocytes. ovary BTO:0000975 Y Y UniProtKB AAP 4/3/2013 110 3300008380 Faith O14880 4259 MGST3 Homo sapiens 9606 Comment/tissue specificity Predominantly expressed in heart, skeletal muscle, and adrenal cortex. Also found in brain, placenta, liver, kidney, pancreas, thyroid, testis and ovary. Almost absent in lung, thymus and peripheral blood leukocytes. female gonad UBERON:0000992 Y Y UniProtKB AAP 4/3/2013 110 3300008381 Faith O14880 4259 MGST3 Homo sapiens 9606 Comment/tissue specificity Predominantly expressed in heart, skeletal muscle, and adrenal cortex. Also found in brain, placenta, liver, kidney, pancreas, thyroid, testis and ovary. Almost absent in lung, thymus and peripheral blood leukocytes. lung BTO:0000763 Y Y UniProtKB Almost absent AAP 4/3/2013 110 3300008382 Faith O14880 4259 MGST3 Homo sapiens 9606 Comment/tissue specificity Predominantly expressed in heart, skeletal muscle, and adrenal cortex. Also found in brain, placenta, liver, kidney, pancreas, thyroid, testis and ovary. Almost absent in lung, thymus and peripheral blood leukocytes. lung UBERON:0002048 Y Y UniProtKB Almost absent AAP 4/3/2013 110 3300008383 Faith O14880 4259 MGST3 Homo sapiens 9606 Comment/tissue specificity Predominantly expressed in heart, skeletal muscle, and adrenal cortex. Also found in brain, placenta, liver, kidney, pancreas, thyroid, testis and ovary. Almost absent in lung, thymus and peripheral blood leukocytes. thymus BTO:0001374 Y Y UniProtKB Almost absent AAP 4/3/2013 110 3300008384 Faith O14880 4259 MGST3 Homo sapiens 9606 Comment/tissue specificity Predominantly expressed in heart, skeletal muscle, and adrenal cortex. Also found in brain, placenta, liver, kidney, pancreas, thyroid, testis and ovary. Almost absent in lung, thymus and peripheral blood leukocytes. thymus UBERON:0002370 Y Y UniProtKB Almost absent AAP 4/3/2013 110 3300008385 Faith O14880 4259 MGST3 Homo sapiens 9606 Comment/tissue specificity Predominantly expressed in heart, skeletal muscle, and adrenal cortex. Also found in brain, placenta, liver, kidney, pancreas, thyroid, testis and ovary. Almost absent in lung, thymus and peripheral blood leukocytes. leukocyte BTO:0000751 Y Y UniProtKB Almost absent AAP 4/3/2013 110 3300008386 Faith Q8TDS5 165140 OXER1 Homo sapiens 9606 Comment/tissue specificity Expressed in various tissues except brain. Expression is more intense in liver, kidney, peripheral leukocyte, lung, and spleen than in other tissues. Highly expressed in eosinophils, neutrophils, and lung macrophages. alveolar macrophage BTO:0000802 alveolar macrophage CL:0000583 Y Y ECO:0000006 PubMed:12065583 PubMed:12606753 UniProtKB lung macrophage AAP 4/3/2013 92 3300008387 Faith Q8TDS5 165140 OXER1 Homo sapiens 9606 Comment/tissue specificity Expressed in various tissues except brain. Expression is more intense in liver, kidney, peripheral leukocyte, lung, and spleen than in other tissues. Highly expressed in eosinophils, neutrophils, and lung macrophages. eosinophil BTO:0000399 eosinophil CL:0000771 Y Y ECO:0000006 PubMed:12065583 PubMed:12606753 UniProtKB AAP 4/3/2013 92 3300008388 Faith Q8TDS5 165140 OXER1 Homo sapiens 9606 Comment/tissue specificity Expressed in various tissues except brain. Expression is more intense in liver, kidney, peripheral leukocyte, lung, and spleen than in other tissues. Highly expressed in eosinophils, neutrophils, and lung macrophages. leukocyte BTO:0000751 leukocyte CL:0000738 Y Y ECO:0000006 PubMed:12065583 PubMed:12606753 UniProtKB peripheral leukocyte AAP 4/3/2013 92 3300008389 Faith Q8TDS5 165140 OXER1 Homo sapiens 9606 Comment/tissue specificity Expressed in various tissues except brain. Expression is more intense in liver, kidney, peripheral leukocyte, lung, and spleen than in other tissues. Highly expressed in eosinophils, neutrophils, and lung macrophages. neutrophil BTO:0000130 neutrophil CL:0000775 Y Y ECO:0000006 PubMed:12065583 PubMed:12606753 UniProtKB AAP 4/3/2013 92 3300008390 Faith Q8TDS5 165140 OXER1 Homo sapiens 9606 Comment/subcellular location Cell membrane;Multi-pass membrane protein plasma membrane GO:0005886 SL-0039 Y Y UniProtKB AAP 4/3/2013 92 3300008392 Faith Q8TDS5 165140 OXER1 Homo sapiens 9606 Comment/tissue specificity Expressed in various tissues except brain. Expression is more intense in liver, kidney, peripheral leukocyte, lung, and spleen than in other tissues. Highly expressed in eosinophils, neutrophils, and lung macrophages. liver BTO:0000759 Y Y ECO:0000006 PubMed:12065583 PubMed:12606753 UniProtKB AAP 4/3/2013 92 3300008394 Faith Q8TDS5 165140 OXER1 Homo sapiens 9606 Comment/tissue specificity Expressed in various tissues except brain. Expression is more intense in liver, kidney, peripheral leukocyte, lung, and spleen than in other tissues. Highly expressed in eosinophils, neutrophils, and lung macrophages. liver UBERON:0002107 Y Y ECO:0000006 PubMed:12065583 PubMed:12606753 UniProtKB AAP 4/3/2013 92 3300008395 Faith Q8TDS5 165140 OXER1 Homo sapiens 9606 Comment/tissue specificity Expressed in various tissues except brain. Expression is more intense in liver, kidney, peripheral leukocyte, lung, and spleen than in other tissues. Highly expressed in eosinophils, neutrophils, and lung macrophages. kidney BTO:0000671 Y Y ECO:0000006 PubMed:12065583 PubMed:12606753 UniProtKB AAP 4/3/2013 92 3300008396 Faith Q8TDS5 165140 OXER1 Homo sapiens 9606 Comment/tissue specificity Expressed in various tissues except brain. Expression is more intense in liver, kidney, peripheral leukocyte, lung, and spleen than in other tissues. Highly expressed in eosinophils, neutrophils, and lung macrophages. kidney UBERON:0002113 Y Y ECO:0000006 PubMed:12065583 PubMed:12606753 UniProtKB AAP 4/3/2013 92 3300008397 Faith Q8TDS5 165140 OXER1 Homo sapiens 9606 Comment/tissue specificity Expressed in various tissues except brain. Expression is more intense in liver, kidney, peripheral leukocyte, lung, and spleen than in other tissues. Highly expressed in eosinophils, neutrophils, and lung macrophages. lung BTO:0000763 Y Y ECO:0000006 PubMed:12065583 PubMed:12606753 UniProtKB AAP 4/3/2013 92 3300008398 Faith Q8TDS5 165140 OXER1 Homo sapiens 9606 Comment/tissue specificity Expressed in various tissues except brain. Expression is more intense in liver, kidney, peripheral leukocyte, lung, and spleen than in other tissues. Highly expressed in eosinophils, neutrophils, and lung macrophages. lung UBERON:0002048 Y Y ECO:0000006 PubMed:12065583 PubMed:12606753 UniProtKB AAP 4/3/2013 92 3300008399 Faith Q8TDS5 165140 OXER1 Homo sapiens 9606 Comment/tissue specificity Expressed in various tissues except brain. Expression is more intense in liver, kidney, peripheral leukocyte, lung, and spleen than in other tissues. Highly expressed in eosinophils, neutrophils, and lung macrophages. spleen BTO:0001281 Y Y ECO:0000006 PubMed:12065583 PubMed:12606753 UniProtKB AAP 4/3/2013 92 3300008400 Faith Q8TDS5 165140 OXER1 Homo sapiens 9606 Comment/tissue specificity Expressed in various tissues except brain. Expression is more intense in liver, kidney, peripheral leukocyte, lung, and spleen than in other tissues. Highly expressed in eosinophils, neutrophils, and lung macrophages. spleen UBERON:0002106 Y Y ECO:0000006 PubMed:12065583 PubMed:12606753 UniProtKB AAP 4/3/2013 92 3300008401 Faith Q99487 5051 PAFAH2 Homo sapiens 9606 Comment/tissue specificity Broadly expressed in different tissues, but high in B- and T-lymphocytes. In brain, expression is restricted to amygdala and frontal cortex. B-lymphocyte BTO:0000776 B cell CL:0000236 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 114 3300008403 Faith Q99487 5051 PAFAH2 Homo sapiens 9606 Comment/tissue specificity Broadly expressed in different tissues, but high in B- and T-lymphocytes. In brain, expression is restricted to amygdala and frontal cortex. T-lymphocyte BTO:0000782 T cell CL:0000084 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 114 3300008404 Faith Q99487 5051 PAFAH2 Homo sapiens 9606 Comment/function Has a marked selectivity for phospholipids with short acyl chains at the sn-2 position. May share a common physiologic function with the plasma-type enzyme. Y Y ECO:0000311 UniProtKB AAP 1/9/2013 114 3300008405 Faith Q99487 5051 PAFAH2 Homo sapiens 9606 Comment/subcellular location Cytoplasm cytoplasm GO:0005737 SL-0086 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 114 3300008406 Faith Q99487 5051 PAFAH2 Homo sapiens 9606 Comment/tissue specificity Broadly expressed in different tissues, but high in B- and T-lymphocytes. In brain, expression is restricted to amygdala and frontal cortex. amygdala BTO:0001042 Y Y ECO:0000311 UniProtKB In brain, expression restricted to amygdala and frontal cortex AAP 1/9/2013 114 3300008408 Faith Q99487 5051 PAFAH2 Homo sapiens 9606 Comment/tissue specificity Broadly expressed in different tissues, but high in B- and T-lymphocytes. In brain, expression is restricted to amygdala and frontal cortex. amygdala UBERON:0001876 Y Y ECO:0000311 UniProtKB In brain, expression restricted to amygdala and frontal cortex AAP 1/9/2013 114 3300008409 Faith Q99487 5051 PAFAH2 Homo sapiens 9606 Comment/tissue specificity Broadly expressed in different tissues, but high in B- and T-lymphocytes. In brain, expression is restricted to amygdala and frontal cortex. frontal lobe BTO:0000484 Y Y ECO:0000311 UniProtKB In brain, expression restricted to amygdala and frontal cortex AAP 1/9/2013 114 3300008410 Faith Q99487 5051 PAFAH2 Homo sapiens 9606 Comment/tissue specificity Broadly expressed in different tissues, but high in B- and T-lymphocytes. In brain, expression is restricted to amygdala and frontal cortex. frontal cortex UBERON:0001870 Y Y ECO:0000311 UniProtKB In brain, expression restricted to amygdala and frontal cortex AAP 1/9/2013 114 3300008411 Faith Q99487 5051 PAFAH2 Homo sapiens 9606 EC 3.1.1.47 Y Y ECO:0000311 EC number UniProtKB AAP 1/9/2013 114 3300008412 Mike O15496 8399 PLA2G10 Homo sapiens 9606 Comment/subcellular location Secreted extracellular region GO:0005576 SL-0243 Y Y ECO:0000311 UniProtKB AAP, DGA 11/28/2012 125 3300008414 Mike O15496 8399 PLA2G10 Homo sapiens 9606 Comment/tissue specificity Found in spleen, thymus, peripheral blood leukocytes, pancreas, lung, and colon. colon BTO:0000269 Y Y ECO:0000311 UniProtKB AAP, DGA 11/28/2012 125 3300008415 Mike O15496 8399 PLA2G10 Homo sapiens 9606 Comment/tissue specificity Found in spleen, thymus, peripheral blood leukocytes, pancreas, lung, and colon. colon UBERON:0001155 Y Y ECO:0000311 UniProtKB AAP, DGA 11/28/2012 125 3300008416 Mike O15496 8399 PLA2G10 Homo sapiens 9606 Comment/tissue specificity Found in spleen, thymus, peripheral blood leukocytes, pancreas, lung, and colon. leukocyte BTO:0000751 Y Y ECO:0000311 UniProtKB AAP, DGA 11/28/2012 125 3300008417 Mike O15496 8399 PLA2G10 Homo sapiens 9606 Comment/tissue specificity Found in spleen, thymus, peripheral blood leukocytes, pancreas, lung, and colon. lung BTO:0000763 Y Y ECO:0000311 UniProtKB AAP, DGA 11/28/2012 125 3300008418 Mike O15496 8399 PLA2G10 Homo sapiens 9606 Comment/tissue specificity Found in spleen, thymus, peripheral blood leukocytes, pancreas, lung, and colon. lung UBERON:0002048 Y Y ECO:0000311 UniProtKB AAP, DGA 11/28/2012 125 3300008419 Mike O15496 8399 PLA2G10 Homo sapiens 9606 Comment/tissue specificity Found in spleen, thymus, peripheral blood leukocytes, pancreas, lung, and colon. pancreas BTO:0000988 Y Y ECO:0000311 UniProtKB AAP, DGA 11/28/2012 125 3300008420 Mike O15496 8399 PLA2G10 Homo sapiens 9606 Comment/tissue specificity Found in spleen, thymus, peripheral blood leukocytes, pancreas, lung, and colon. pancreas UBERON:0001264 Y Y ECO:0000311 UniProtKB AAP, DGA 11/28/2012 125 3300008421 Mike O15496 8399 PLA2G10 Homo sapiens 9606 Comment/tissue specificity Found in spleen, thymus, peripheral blood leukocytes, pancreas, lung, and colon. spleen BTO:0001281 Y Y ECO:0000311 UniProtKB AAP, DGA 11/28/2012 125 3300008422 Mike O15496 8399 PLA2G10 Homo sapiens 9606 Comment/tissue specificity Found in spleen, thymus, peripheral blood leukocytes, pancreas, lung, and colon. spleen UBERON:0002106 Y Y ECO:0000311 UniProtKB AAP, DGA 11/28/2012 125 3300008423 Mike O15496 8399 PLA2G10 Homo sapiens 9606 Comment/tissue specificity Found in spleen, thymus, peripheral blood leukocytes, pancreas, lung, and colon. thymus BTO:0001374 Y Y ECO:0000311 UniProtKB AAP, DGA 11/28/2012 125 3300008424 Mike O15496 8399 PLA2G10 Homo sapiens 9606 Comment/tissue specificity Found in spleen, thymus, peripheral blood leukocytes, pancreas, lung, and colon. thymus UBERON:0002370 Y Y ECO:0000311 UniProtKB AAP, DGA 11/28/2012 125 3300008425 Mike O15496 8399 PLA2G10 Homo sapiens 9606 EC 3.1.1.4 Y Y ECO:0000311 EC number UniProtKB AAP, DGA 11/28/2012 125 3300008426 Katie Q9BZM1 81579 PLA2G12A Homo sapiens 9606 Comment/function PA2 catalyzes the calcium-dependent hydrolysis of the 2-acyl groups in 3-sn-phosphoglycerides. Does not exhibit detectable activity toward sn-2-arachidonoyl- or linoleoyl-phosphatidylcholine or -phosphatidylethanolamine. phospholipid metabolic process GO:0006644 Y Y ECO:0000006 PubMed:12522102 UniProtKB AAP 11/28/2012 114 3300008427 Katie Q9BZM1 81579 PLA2G12A Homo sapiens 9606 Comment/subcellular location Cytoplasm cytoplasm GO:0005737 SL-0086 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 114 3300008428 Katie Q9BZM1 81579 PLA2G12A Homo sapiens 9606 Comment/subcellular location Secreted extracellular region GO:0005576 SL-0243 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 114 3300008429 Katie Q9BZM1 81579 PLA2G12A Homo sapiens 9606 Comment/tissue specificity Abundantly expressed in heart, skeletal muscle, kidney, liver and pancreas. heart BTO:0000562 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 114 3300008430 Katie Q9BZM1 81579 PLA2G12A Homo sapiens 9606 Comment/tissue specificity Abundantly expressed in heart, skeletal muscle, kidney, liver and pancreas. heart UBERON:0000948 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 114 3300008431 Katie Q9BZM1 81579 PLA2G12A Homo sapiens 9606 Comment/tissue specificity Abundantly expressed in heart, skeletal muscle, kidney, liver and pancreas. kidney BTO:0000671 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 114 3300008432 Katie Q9BZM1 81579 PLA2G12A Homo sapiens 9606 Comment/tissue specificity Abundantly expressed in heart, skeletal muscle, kidney, liver and pancreas. kidney UBERON:0002113 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 114 3300008433 Katie Q9BZM1 81579 PLA2G12A Homo sapiens 9606 Comment/tissue specificity Abundantly expressed in heart, skeletal muscle, kidney, liver and pancreas. liver BTO:0000759 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 114 3300008434 Katie Q9BZM1 81579 PLA2G12A Homo sapiens 9606 Comment/tissue specificity Abundantly expressed in heart, skeletal muscle, kidney, liver and pancreas. liver UBERON:0002107 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 114 3300008435 Katie Q9BZM1 81579 PLA2G12A Homo sapiens 9606 Comment/tissue specificity Abundantly expressed in heart, skeletal muscle, kidney, liver and pancreas. pancreas BTO:0000988 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 114 3300008436 Katie Q9BZM1 81579 PLA2G12A Homo sapiens 9606 Comment/tissue specificity Abundantly expressed in heart, skeletal muscle, kidney, liver and pancreas. pancreas UBERON:0001264 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 114 3300008437 Katie Q9BZM1 81579 PLA2G12A Homo sapiens 9606 Comment/tissue specificity Abundantly expressed in heart, skeletal muscle, kidney, liver and pancreas. skeletal muscle BTO:0001103 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 114 3300008438 Katie Q9BZM1 81579 PLA2G12A Homo sapiens 9606 Comment/tissue specificity Abundantly expressed in heart, skeletal muscle, kidney, liver and pancreas. skeletal muscle tissue UBERON:0001134 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 114 3300008439 Katie Q9BZM1 81579 PLA2G12A Homo sapiens 9606 EC 3.1.1.4 Y Y ECO:0000311 EC number UniProtKB AAP 11/28/2012 114 3300008440 Katie Q9BX93 84647 PLA2G12B Homo sapiens 9606 Comment/subcellular location Secreted extracellular region GO:0005576 SL-0243 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 99 3300008442 Katie Q9BX93 84647 PLA2G12B Homo sapiens 9606 Comment/tissue specificity Strong expression in liver, small intestine and kidney. kidney BTO:0000671 Y Y ECO:0000006 PubMed:14516201 UniProtKB AAP 11/28/2012 99 3300008443 Katie Q9BX93 84647 PLA2G12B Homo sapiens 9606 Comment/tissue specificity Strong expression in liver, small intestine and kidney. kidney UBERON:0002113 Y Y ECO:0000006 PubMed:14516201 UniProtKB AAP 11/28/2012 99 3300008444 Katie Q9BX93 84647 PLA2G12B Homo sapiens 9606 Comment/tissue specificity Strong expression in liver, small intestine and kidney. liver BTO:0000759 Y Y ECO:0000006 PubMed:14516201 UniProtKB AAP 11/28/2012 99 3300008445 Katie Q9BX93 84647 PLA2G12B Homo sapiens 9606 Comment/tissue specificity Strong expression in liver, small intestine and kidney. liver UBERON:0002107 Y Y ECO:0000006 PubMed:14516201 UniProtKB AAP 11/28/2012 99 3300008446 Katie Q9BX93 84647 PLA2G12B Homo sapiens 9606 Comment/tissue specificity Strong expression in liver, small intestine and kidney. small intestine BTO:0000651 Y Y ECO:0000006 PubMed:14516201 UniProtKB AAP 11/28/2012 99 3300008447 Katie Q9BX93 84647 PLA2G12B Homo sapiens 9606 Comment/tissue specificity Strong expression in liver, small intestine and kidney. small intestine UBERON:0002108 Y Y ECO:0000006 PubMed:14516201 UniProtKB AAP 11/28/2012 99 3300008448 Faith P53816 11145 PLA2G16 Homo sapiens 9606 Comment/tissue specificity Widely expressed. low expression, if any, in hematopoietic cells and thymus. In testis, confined to round spermatids. Expressed in normal ovarian epithelial cells. Down-regulated in some ovarian carcinomas and testicular germ cell tumors. hematopoietic cell BTO:0000574 hematopoietic cell CL:0000988 Y Y ECO:0000006 PubMed:19615464 PubMed:9771974 PubMed:11526504 PubMed:11973642 UniProtKB low expression, if any AAP 5/29/2013 109 3300008449 Faith P53816 11145 PLA2G16 Homo sapiens 9606 Comment/tissue specificity Widely expressed. low expression, if any, in hematopoietic cells and thymus. In testis, confined to round spermatids. Expressed in normal ovarian epithelial cells. Down-regulated in some ovarian carcinomas and testicular germ cell tumors. spermatid BTO:0001274 spermatid CL:0000018 Y Y ECO:0000006 PubMed:19615464 PubMed:9771974 PubMed:11526504 PubMed:11973642 UniProtKB confined to round spermatids in testis AAP 5/29/2013 109 3300008450 Faith P53816 11145 PLA2G16 Homo sapiens 9606 EC 3.1.1.4 Y Y EC number UniProtKB AAP 5/29/2013 109 3300008451 Faith P53816 11145 PLA2G16 Homo sapiens 9606 Comment/subcellular location Perinuclear region perinuclear region of cytoplasm GO:0048471 SL-0198 Y Y UniProtKB AAP 5/29/2013 109 3300008454 Faith P53816 11145 PLA2G16 Homo sapiens 9606 Comment/tissue specificity Widely expressed. low expression, if any, in hematopoietic cells and thymus. In testis, confined to round spermatids. Expressed in normal ovarian epithelial cells. Down-regulated in some ovarian carcinomas and testicular germ cell tumors. thymus BTO:0001374 Y Y ECO:0000006 PubMed:19615464 PubMed:9771974 PubMed:11526504 PubMed:11973642 UniProtKB low expression, if any AAP 5/29/2013 109 3300008457 Faith P53816 11145 PLA2G16 Homo sapiens 9606 Comment/tissue specificity Widely expressed. low expression, if any, in hematopoietic cells and thymus. In testis, confined to round spermatids. Expressed in normal ovarian epithelial cells. Down-regulated in some ovarian carcinomas and testicular germ cell tumors. thymus UBERON:0002370 Y Y ECO:0000006 PubMed:19615464 PubMed:9771974 PubMed:11526504 PubMed:11973642 UniProtKB low expression, if any AAP 5/29/2013 109 3300008458 Faith P53816 11145 PLA2G16 Homo sapiens 9606 Comment/tissue specificity Widely expressed. low expression, if any, in hematopoietic cells and thymus. In testis, confined to round spermatids. Expressed in normal ovarian epithelial cells. Down-regulated in some ovarian carcinomas and testicular germ cell tumors. ovary epithelium BTO:0003661 Y Y ECO:0000006 PubMed:19615464 PubMed:9771974 PubMed:11526504 PubMed:11973642 UniProtKB AAP 5/29/2013 109 3300008459 Faith P53816 11145 PLA2G16 Homo sapiens 9606 Comment/tissue specificity Widely expressed. low expression, if any, in hematopoietic cells and thymus. In testis, confined to round spermatids. Expressed in normal ovarian epithelial cells. Down-regulated in some ovarian carcinomas and testicular germ cell tumors. epithelium of female gonad UBERON:0004911 Y Y ECO:0000006 PubMed:19615464 PubMed:9771974 PubMed:11526504 PubMed:11973642 UniProtKB AAP 5/29/2013 109 3300008460 Faith P53816 11145 PLA2G16 Homo sapiens 9606 Comment/tissue specificity Widely expressed. low expression, if any, in hematopoietic cells and thymus. In testis, confined to round spermatids. Expressed in normal ovarian epithelial cells. Down-regulated in some ovarian carcinomas and testicular germ cell tumors. ovary epithelium BTO:0003661 ovarian carcinoma DOID:4001 Y Y ECO:0000006 PubMed:19615464 PubMed:9771974 PubMed:11526504 PubMed:11973642 UniProtKB Down regulated AAP 5/29/2013 109 3300008461 Faith P53816 11145 PLA2G16 Homo sapiens 9606 Comment/tissue specificity Widely expressed. low expression, if any, in hematopoietic cells and thymus. In testis, confined to round spermatids. Expressed in normal ovarian epithelial cells. Down-regulated in some ovarian carcinomas and testicular germ cell tumors. epithelium of female gonad UBERON:0004911 ovarian carcinoma DOID:4001 Y Y ECO:0000006 PubMed:19615464 PubMed:9771974 PubMed:11526504 PubMed:11973642 UniProtKB Down regulated AAP 5/29/2013 109 3300008462 Faith P53816 11145 PLA2G16 Homo sapiens 9606 Comment/tissue specificity Widely expressed. low expression, if any, in hematopoietic cells and thymus. In testis, confined to round spermatids. Expressed in normal ovarian epithelial cells. Down-regulated in some ovarian carcinomas and testicular germ cell tumors. spermatid BTO:0001274 testicular germ cell cancer DOID:5557 Y Y ECO:0000006 PubMed:19615464 PubMed:9771974 PubMed:11526504 PubMed:11973642 UniProtKB AAP 5/29/2013 109 3300008463 Faith P53816 11145 PLA2G16 Homo sapiens 9606 Comment/tissue specificity Widely expressed. low expression, if any, in hematopoietic cells and thymus. In testis, confined to round spermatids. Expressed in normal ovarian epithelial cells. Down-regulated in some ovarian carcinomas and testicular germ cell tumors. spermatid BTO:0001274 Y Y ECO:0000006 PubMed:19615464 PubMed:9771974 PubMed:11526504 PubMed:11973642 UniProtKB AAP 5/29/2013 109 3300008464 Mike P04054 5319 PLA2G1B Homo sapiens 9606 Comment/function PA2 catalyzes the calcium-dependent hydrolysis of the 2-acyl groups in 3-sn-phosphoglycerides. glycerophospholipid metabolic process GO:0006650 Y Y ECO:0000311 UniProtKB Possibly covered by existing GO annotation AAP 2/6/2013 140 3300008466 Mike P04054 5319 PLA2G1B Homo sapiens 9606 Comment/subcellular location Secreted extracellular region GO:0005576 SL-0243 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 140 3300008467 Mike P04054 5319 PLA2G1B Homo sapiens 9606 EC 3.1.1.4 Y Y ECO:0000311 EC number UniProtKB AAP 2/6/2013 140 3300008468 Mike P14555 5320 PLA2G2A Homo sapiens 9606 Comment/subcellular location Membrane;Peripheral membrane protein extrinsic component of membrane GO:0019898 SL-0162 Y Y ECO:0000311 UniProtKB AAP, DGA 1/9/2013 154 3300008471 Mike P14555 5320 PLA2G2A Homo sapiens 9606 EC 3.1.1.4 Y Y ECO:0000311 EC number UniProtKB AAP, DGA 1/9/2013 154 3300008472 Katie Q9UNK4 26279 PLA2G2D Homo sapiens 9606 Comment/function PA2 catalyzes the calcium-dependent hydrolysis of the 2-acyl groups in 3-sn-phosphoglycerides. L-alpha-1-palmitoyl-2-linoleoyl phosphatidylethanolamine is more efficiently hydrolyzed than the other phospholipids examined. phospholipid metabolic process GO:0006644 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 115 3300008473 Katie Q9UNK4 26279 PLA2G2D Homo sapiens 9606 Comment/subcellular location Secreted extracellular region GO:0005576 SL-0243 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 115 3300008474 Katie Q9UNK4 26279 PLA2G2D Homo sapiens 9606 EC 3.1.1.4 Y Y ECO:0000311 EC number UniProtKB AAP 2/6/2013 115 3300008476 Katie Q9NZK7 30814 PLA2G2E Homo sapiens 9606 Comment/function PA2 catalyzes the calcium-dependent hydrolysis of the 2-acyl groups in 3-sn-phosphoglycerides. Has a preference for arachidonic-containing phospholipids. phospholipid metabolic process GO:0006644 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 102 3300008477 Katie Q9NZK7 30814 PLA2G2E Homo sapiens 9606 Comment/subcellular location Secreted extracellular region GO:0005576 SL-0243 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 102 3300008478 Katie Q9NZK7 30814 PLA2G2E Homo sapiens 9606 Comment/tissue specificity Restricted to the brain, heart, lung, and placenta. brain BTO:0000142 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 102 3300008479 Katie Q9NZK7 30814 PLA2G2E Homo sapiens 9606 Comment/tissue specificity Restricted to the brain, heart, lung, and placenta. brain UBERON:0000955 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 102 3300008480 Katie Q9NZK7 30814 PLA2G2E Homo sapiens 9606 Comment/tissue specificity Restricted to the brain, heart, lung, and placenta. heart BTO:0000562 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 102 3300008481 Katie Q9NZK7 30814 PLA2G2E Homo sapiens 9606 Comment/tissue specificity Restricted to the brain, heart, lung, and placenta. heart UBERON:0000948 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 102 3300008482 Katie Q9NZK7 30814 PLA2G2E Homo sapiens 9606 Comment/tissue specificity Restricted to the brain, heart, lung, and placenta. lung BTO:0000763 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 102 3300008483 Katie Q9NZK7 30814 PLA2G2E Homo sapiens 9606 Comment/tissue specificity Restricted to the brain, heart, lung, and placenta. lung UBERON:0002048 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 102 3300008484 Katie Q9NZK7 30814 PLA2G2E Homo sapiens 9606 Comment/tissue specificity Restricted to the brain, heart, lung, and placenta. placenta BTO:0001078 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 102 3300008485 Katie Q9NZK7 30814 PLA2G2E Homo sapiens 9606 Comment/tissue specificity Restricted to the brain, heart, lung, and placenta. placenta UBERON:0001987 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 102 3300008486 Katie Q9NZK7 30814 PLA2G2E Homo sapiens 9606 EC 3.1.1.4 Y Y ECO:0000311 EC number UniProtKB AAP 2/6/2013 102 3300008487 Katie Q9BZM2 64600 PLA2G2F Homo sapiens 9606 Comment/function PA2 catalyzes the calcium-dependent hydrolysis of the 2-acyl groups in 3-sn-phosphoglycerides. Hydrolyzes phosphatidylglycerol versus phosphatidylcholine with a 15-fold preference. phospholipid metabolic process GO:0006644 Y Y ECO:0000006 PubMed:11112443 UniProtKB AAP 11/28/2012 100 3300008488 Katie Q9BZM2 64600 PLA2G2F Homo sapiens 9606 Comment/subcellular location Secreted extracellular region GO:0005576 SL-0243 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 100 3300008489 Katie/Faith Q9BZM2 64600 PLA2G2F Homo sapiens 9606 Comment/tissue specificity Expressed at high levels in placenta, testis, thymus and at lower levels in heart, kidney, liver and prostate. heart BTO:0000562 Y Y ECO:0000006 PubMed:11112443 UniProtKB AAP 11/28/2012 100 3300008490 Katie/Faith Q9BZM2 64600 PLA2G2F Homo sapiens 9606 Comment/tissue specificity Expressed at high levels in placenta, testis, thymus and at lower levels in heart, kidney, liver and prostate. heart UBERON:0000948 Y Y ECO:0000006 PubMed:11112443 UniProtKB AAP 11/28/2012 100 3300008491 Katie/Faith Q9BZM2 64600 PLA2G2F Homo sapiens 9606 Comment/tissue specificity Expressed at high levels in placenta, testis, thymus and at lower levels in heart, kidney, liver and prostate. kidney BTO:0000671 Y Y ECO:0000006 PubMed:11112443 UniProtKB AAP 11/28/2012 100 3300008492 Katie/Faith Q9BZM2 64600 PLA2G2F Homo sapiens 9606 Comment/tissue specificity Expressed at high levels in placenta, testis, thymus and at lower levels in heart, kidney, liver and prostate. kidney UBERON:0002113 Y Y ECO:0000006 PubMed:11112443 UniProtKB AAP 11/28/2012 100 3300008493 Katie/Faith Q9BZM2 64600 PLA2G2F Homo sapiens 9606 Comment/tissue specificity Expressed at high levels in placenta, testis, thymus and at lower levels in heart, kidney, liver and prostate. liver BTO:0000759 Y Y ECO:0000006 PubMed:11112443 UniProtKB AAP 11/28/2012 100 3300008494 Katie/Faith Q9BZM2 64600 PLA2G2F Homo sapiens 9606 Comment/tissue specificity Expressed at high levels in placenta, testis, thymus and at lower levels in heart, kidney, liver and prostate. liver UBERON:0002107 Y Y ECO:0000006 PubMed:11112443 UniProtKB AAP 11/28/2012 100 3300008495 Katie Q9BZM2 64600 PLA2G2F Homo sapiens 9606 Comment/tissue specificity Expressed at high levels in placenta, testis, thymus and at lower levels in heart, kidney, liver and prostate. placenta BTO:0001078 Y Y ECO:0000006 PubMed:11112443 UniProtKB AAP 11/28/2012 100 3300008496 Katie Q9BZM2 64600 PLA2G2F Homo sapiens 9606 Comment/tissue specificity Expressed at high levels in placenta, testis, thymus and at lower levels in heart, kidney, liver and prostate. placenta UBERON:0001987 Y Y ECO:0000006 PubMed:11112443 UniProtKB AAP 11/28/2012 100 3300008497 Katie/Faith Q9BZM2 64600 PLA2G2F Homo sapiens 9606 Comment/tissue specificity Expressed at high levels in placenta, testis, thymus and at lower levels in heart, kidney, liver and prostate. prostate gland BTO:0001129 Y Y ECO:0000006 PubMed:11112443 UniProtKB AAP 11/28/2012 100 3300008498 Katie/Faith Q9BZM2 64600 PLA2G2F Homo sapiens 9606 Comment/tissue specificity Expressed at high levels in placenta, testis, thymus and at lower levels in heart, kidney, liver and prostate. prostate gland UBERON:0002367 Y Y ECO:0000006 PubMed:11112443 UniProtKB AAP 11/28/2012 100 3300008499 Katie Q9BZM2 64600 PLA2G2F Homo sapiens 9606 Comment/tissue specificity Expressed at high levels in placenta, testis, thymus and at lower levels in heart, kidney, liver and prostate. testis BTO:0001363 Y Y ECO:0000006 PubMed:11112443 UniProtKB AAP 11/28/2012 100 3300008500 Katie Q9BZM2 64600 PLA2G2F Homo sapiens 9606 Comment/tissue specificity Expressed at high levels in placenta, testis, thymus and at lower levels in heart, kidney, liver and prostate. testis UBERON:0000473 Y Y ECO:0000006 PubMed:11112443 UniProtKB AAP 11/28/2012 100 3300008501 Katie Q9BZM2 64600 PLA2G2F Homo sapiens 9606 Comment/tissue specificity Expressed at high levels in placenta, testis, thymus and at lower levels in heart, kidney, liver and prostate. thymus BTO:0001374 Y Y ECO:0000006 PubMed:11112443 UniProtKB AAP 11/28/2012 100 3300008502 Katie Q9BZM2 64600 PLA2G2F Homo sapiens 9606 Comment/tissue specificity Expressed at high levels in placenta, testis, thymus and at lower levels in heart, kidney, liver and prostate. thymus UBERON:0002370 Y Y ECO:0000006 PubMed:11112443 UniProtKB AAP 11/28/2012 100 3300008503 Katie Q9BZM2 64600 PLA2G2F Homo sapiens 9606 EC 3.1.1.4 Y Y ECO:0000311 EC number UniProtKB AAP 11/28/2012 100 3300008504 Katie Q9NZ20 50487 PLA2G3 Homo sapiens 9606 Comment/function PA2 catalyzes the calcium-dependent hydrolysis of the 2-acyl groups in 3-sn-phosphoglycerides. Shows an 11-fold preference for phosphatidylglycerol over phosphatidylcholine (PC). Preferential cleavage: 1-palmitoyl-2-linoleoyl-phosphatidylethanolamine (PE) > 1-palmitoyl-2-linoleoyl-PC > 1-palmitoyl-2-arachidonoyl-PC > 1-palmitoyl-2-arachidonoyl-PE. Plays a role in ciliogenesis. phospholipid metabolic process GO:0006644 Y Y ECO:0000006 PubMed:12522102 PubMed:20393563 UniProtKB AAP, DGA 11/28/2012 110 3300008505 Katie Q9NZ20 50487 PLA2G3 Homo sapiens 9606 Comment/subcellular location Secreted extracellular region GO:0005576 SL-0243 Y Y ECO:0000311 UniProtKB AAP, DGA 11/28/2012 110 3300008509 Katie Q9NZ20 50487 PLA2G3 Homo sapiens 9606 Comment/tissue specificity Expressed in kidney, heart, liver, and skeletal muscle. Also present in placenta and peripheral blood leukocytes. Not detected in brain, colon, thymus, spleen and small intestine. In lung, expressed in bronchial epithelial cells and alveolar macrophages, but scarcely detected in alveolar epithelium, arterial walls and interstitial fibroblasts (at protein level). In joints of osteoarthritis and rheumatoid arthritis, expressed in endothelial cells (at protein level). In normal heart, detected in some vessels. In myocardial tissues with acute infarction, expressed in vascular endothelial cells adjacent to cardiomyocytes and those in lesions with granulation. Expression in cardiomyocytes is scarce (at protein level). In uterus, breast and colon cancers, detected in tumor cells and neighboring microvascular endothelium, but not in normal glandular tissues (at protein level). microvascular endothelium BTO:0003122 breast cancer DOID:1612 Y Y ECO:0000006 PubMed:15863501 UniProtKB In uterus, breast and colon cancers, detected in tumor cells and neighboring microvascular endothelium, but not in normal glandular tissues (at protein level). AAP, DGA 11/28/2012 110 3300008511 Katie Q9NZ20 50487 PLA2G3 Homo sapiens 9606 Comment/tissue specificity Expressed in kidney, heart, liver, and skeletal muscle. Also present in placenta and peripheral blood leukocytes. Not detected in brain, colon, thymus, spleen and small intestine. In lung, expressed in bronchial epithelial cells and alveolar macrophages, but scarcely detected in alveolar epithelium, arterial walls and interstitial fibroblasts (at protein level). In joints of osteoarthritis and rheumatoid arthritis, expressed in endothelial cells (at protein level). In normal heart, detected in some vessels. In myocardial tissues with acute infarction, expressed in vascular endothelial cells adjacent to cardiomyocytes and those in lesions with granulation. Expression in cardiomyocytes is scarce (at protein level). In uterus, breast and colon cancers, detected in tumor cells and neighboring microvascular endothelium, but not in normal glandular tissues (at protein level). microvascular endothelium UBERON:0008339 breast cancer DOID:1612 Y Y ECO:0000006 PubMed:15863501 UniProtKB In uterus, breast and colon cancers, detected in tumor cells and neighboring microvascular endothelium, but not in normal glandular tissues (at protein level). AAP, DGA 11/28/2012 110 3300008512 Katie Q9NZ20 50487 PLA2G3 Homo sapiens 9606 Comment/tissue specificity Expressed in kidney, heart, liver, and skeletal muscle. Also present in placenta and peripheral blood leukocytes. Not detected in brain, colon, thymus, spleen and small intestine. In lung, expressed in bronchial epithelial cells and alveolar macrophages, but scarcely detected in alveolar epithelium, arterial walls and interstitial fibroblasts (at protein level). In joints of osteoarthritis and rheumatoid arthritis, expressed in endothelial cells (at protein level). In normal heart, detected in some vessels. In myocardial tissues with acute infarction, expressed in vascular endothelial cells adjacent to cardiomyocytes and those in lesions with granulation. Expression in cardiomyocytes is scarce (at protein level). In uterus, breast and colon cancers, detected in tumor cells and neighboring microvascular endothelium, but not in normal glandular tissues (at protein level). breast cancer cell BTO:0000150 breast cancer DOID:1612 Y Y ECO:0000006 PubMed:15863501 UniProtKB No Uberon term; In uterus, breast and colon cancers, detected in tumor cells and neighboring microvascular endothelium, but not in normal glandular tissues (at protein level). AAP, DGA 11/28/2012 110 3300008513 Katie Q9NZ20 50487 PLA2G3 Homo sapiens 9606 Comment/tissue specificity Expressed in kidney, heart, liver, and skeletal muscle. Also present in placenta and peripheral blood leukocytes. Not detected in brain, colon, thymus, spleen and small intestine. In lung, expressed in bronchial epithelial cells and alveolar macrophages, but scarcely detected in alveolar epithelium, arterial walls and interstitial fibroblasts (at protein level). In joints of osteoarthritis and rheumatoid arthritis, expressed in endothelial cells (at protein level). In normal heart, detected in some vessels. In myocardial tissues with acute infarction, expressed in vascular endothelial cells adjacent to cardiomyocytes and those in lesions with granulation. Expression in cardiomyocytes is scarce (at protein level). In uterus, breast and colon cancers, detected in tumor cells and neighboring microvascular endothelium, but not in normal glandular tissues (at protein level). microvascular endothelium BTO:0003122 colon cancer DOID:219 Y Y ECO:0000006 PubMed:15863501 UniProtKB In uterus, breast and colon cancers, detected in tumor cells and neighboring microvascular endothelium, but not in normal glandular tissues (at protein level). AAP, DGA 11/28/2012 110 3300008514 Katie Q9NZ20 50487 PLA2G3 Homo sapiens 9606 Comment/tissue specificity Expressed in kidney, heart, liver, and skeletal muscle. Also present in placenta and peripheral blood leukocytes. Not detected in brain, colon, thymus, spleen and small intestine. In lung, expressed in bronchial epithelial cells and alveolar macrophages, but scarcely detected in alveolar epithelium, arterial walls and interstitial fibroblasts (at protein level). In joints of osteoarthritis and rheumatoid arthritis, expressed in endothelial cells (at protein level). In normal heart, detected in some vessels. In myocardial tissues with acute infarction, expressed in vascular endothelial cells adjacent to cardiomyocytes and those in lesions with granulation. Expression in cardiomyocytes is scarce (at protein level). In uterus, breast and colon cancers, detected in tumor cells and neighboring microvascular endothelium, but not in normal glandular tissues (at protein level). microvascular endothelium UBERON:0008339 colon cancer DOID:219 Y Y ECO:0000006 PubMed:15863501 UniProtKB In uterus, breast and colon cancers, detected in tumor cells and neighboring microvascular endothelium, but not in normal glandular tissues (at protein level). AAP, DGA 11/28/2012 110 3300008515 Katie Q9NZ20 50487 PLA2G3 Homo sapiens 9606 Comment/tissue specificity Expressed in kidney, heart, liver, and skeletal muscle. Also present in placenta and peripheral blood leukocytes. Not detected in brain, colon, thymus, spleen and small intestine. In lung, expressed in bronchial epithelial cells and alveolar macrophages, but scarcely detected in alveolar epithelium, arterial walls and interstitial fibroblasts (at protein level). In joints of osteoarthritis and rheumatoid arthritis, expressed in endothelial cells (at protein level). In normal heart, detected in some vessels. In myocardial tissues with acute infarction, expressed in vascular endothelial cells adjacent to cardiomyocytes and those in lesions with granulation. Expression in cardiomyocytes is scarce (at protein level). In uterus, breast and colon cancers, detected in tumor cells and neighboring microvascular endothelium, but not in normal glandular tissues (at protein level). colonic cancer cell BTO:0000586 colon cancer DOID:219 Y Y ECO:0000006 PubMed:15863501 UniProtKB No Uberon term; In uterus, breast and colon cancers, detected in tumor cells and neighboring microvascular endothelium, but not in normal glandular tissues (at protein level). AAP, DGA 11/28/2012 110 3300008516 Katie Q9NZ20 50487 PLA2G3 Homo sapiens 9606 Comment/tissue specificity Expressed in kidney, heart, liver, and skeletal muscle. Also present in placenta and peripheral blood leukocytes. Not detected in brain, colon, thymus, spleen and small intestine. In lung, expressed in bronchial epithelial cells and alveolar macrophages, but scarcely detected in alveolar epithelium, arterial walls and interstitial fibroblasts (at protein level). In joints of osteoarthritis and rheumatoid arthritis, expressed in endothelial cells (at protein level). In normal heart, detected in some vessels. In myocardial tissues with acute infarction, expressed in vascular endothelial cells adjacent to cardiomyocytes and those in lesions with granulation. Expression in cardiomyocytes is scarce (at protein level). In uterus, breast and colon cancers, detected in tumor cells and neighboring microvascular endothelium, but not in normal glandular tissues (at protein level). microvascular endothelium BTO:0003122 uterine cancer DOID:363 Y Y ECO:0000006 PubMed:15863501 UniProtKB In uterus, breast and colon cancers, detected in tumor cells and neighboring microvascular endothelium, but not in normal glandular tissues (at protein level). AAP, DGA 11/28/2012 110 3300008517 Katie Q9NZ20 50487 PLA2G3 Homo sapiens 9606 Comment/tissue specificity Expressed in kidney, heart, liver, and skeletal muscle. Also present in placenta and peripheral blood leukocytes. Not detected in brain, colon, thymus, spleen and small intestine. In lung, expressed in bronchial epithelial cells and alveolar macrophages, but scarcely detected in alveolar epithelium, arterial walls and interstitial fibroblasts (at protein level). In joints of osteoarthritis and rheumatoid arthritis, expressed in endothelial cells (at protein level). In normal heart, detected in some vessels. In myocardial tissues with acute infarction, expressed in vascular endothelial cells adjacent to cardiomyocytes and those in lesions with granulation. Expression in cardiomyocytes is scarce (at protein level). In uterus, breast and colon cancers, detected in tumor cells and neighboring microvascular endothelium, but not in normal glandular tissues (at protein level). microvascular endothelium UBERON:0008339 uterine cancer DOID:363 Y Y ECO:0000006 PubMed:15863501 UniProtKB In uterus, breast and colon cancers, detected in tumor cells and neighboring microvascular endothelium, but not in normal glandular tissues (at protein level). AAP, DGA 11/28/2012 110 3300008518 Katie Q9NZ20 50487 PLA2G3 Homo sapiens 9606 Comment/tissue specificity Expressed in kidney, heart, liver, and skeletal muscle. Also present in placenta and peripheral blood leukocytes. Not detected in brain, colon, thymus, spleen and small intestine. In lung, expressed in bronchial epithelial cells and alveolar macrophages, but scarcely detected in alveolar epithelium, arterial walls and interstitial fibroblasts (at protein level). In joints of osteoarthritis and rheumatoid arthritis, expressed in endothelial cells (at protein level). In normal heart, detected in some vessels. In myocardial tissues with acute infarction, expressed in vascular endothelial cells adjacent to cardiomyocytes and those in lesions with granulation. Expression in cardiomyocytes is scarce (at protein level). In uterus, breast and colon cancers, detected in tumor cells and neighboring microvascular endothelium, but not in normal glandular tissues (at protein level). uterine cancer cell BTO:0000257 uterine cancer DOID:363 Y Y ECO:0000006 PubMed:15863501 UniProtKB No Uberon term; In uterus, breast and colon cancers, detected in tumor cells and neighboring microvascular endothelium, but not in normal glandular tissues (at protein level). AAP, DGA 11/28/2012 110 3300008519 Katie Q9NZ20 50487 PLA2G3 Homo sapiens 9606 Comment/tissue specificity Expressed in kidney, heart, liver, and skeletal muscle. Also present in placenta and peripheral blood leukocytes. Not detected in brain, colon, thymus, spleen and small intestine. In lung, expressed in bronchial epithelial cells and alveolar macrophages, but scarcely detected in alveolar epithelium, arterial walls and interstitial fibroblasts (at protein level). In joints of osteoarthritis and rheumatoid arthritis, expressed in endothelial cells (at protein level). In normal heart, detected in some vessels. In myocardial tissues with acute infarction, expressed in vascular endothelial cells adjacent to cardiomyocytes and those in lesions with granulation. Expression in cardiomyocytes is scarce (at protein level). In uterus, breast and colon cancers, detected in tumor cells and neighboring microvascular endothelium, but not in normal glandular tissues (at protein level). vascular endothelial cell BTO:0001854 myocardial infarction DOID:5844 Y Y ECO:0000006 PubMed:15863501 UniProtKB In myocardial tissues with acute infarction, expressed in vascular endothelial cells adjacent to cardiomyocytes and those in lesions with granulation AAP, DGA 11/28/2012 110 3300008520 Katie Q9NZ20 50487 PLA2G3 Homo sapiens 9606 Comment/tissue specificity Expressed in kidney, heart, liver, and skeletal muscle. Also present in placenta and peripheral blood leukocytes. Not detected in brain, colon, thymus, spleen and small intestine. In lung, expressed in bronchial epithelial cells and alveolar macrophages, but scarcely detected in alveolar epithelium, arterial walls and interstitial fibroblasts (at protein level). In joints of osteoarthritis and rheumatoid arthritis, expressed in endothelial cells (at protein level). In normal heart, detected in some vessels. In myocardial tissues with acute infarction, expressed in vascular endothelial cells adjacent to cardiomyocytes and those in lesions with granulation. Expression in cardiomyocytes is scarce (at protein level). In uterus, breast and colon cancers, detected in tumor cells and neighboring microvascular endothelium, but not in normal glandular tissues (at protein level). endothelium UBERON:0001986 myocardial infarction DOID:5844 Y Y ECO:0000006 PubMed:15863501 UniProtKB In myocardial tissues with acute infarction, expressed in vascular endothelial cells adjacent to cardiomyocytes and those in lesions with granulation AAP, DGA 11/28/2012 110 3300008521 Rose Q9NZ20 50487 PLA2G3 Homo sapiens 9606 Comment/tissue specificity Expressed in kidney, heart, liver, and skeletal muscle. Also present in placenta and peripheral blood leukocytes. Not detected in brain, colon, thymus, spleen and small intestine. In lung, expressed in bronchial epithelial cells and alveolar macrophages, but scarcely detected in alveolar epithelium, arterial walls and interstitial fibroblasts (at protein level). In joints of osteoarthritis and rheumatoid arthritis, expressed in endothelial cells (at protein level). In normal heart, detected in some vessels. In myocardial tissues with acute infarction, expressed in vascular endothelial cells adjacent to cardiomyocytes and those in lesions with granulation. Expression in cardiomyocytes is scarce (at protein level). In uterus, breast and colon cancers, detected in tumor cells and neighboring microvascular endothelium, but not in normal glandular tissues (at protein level). joint BTO:0001686 rheumatoid arthritis DOID:7148 Y Y ECO:0000006 PubMed:15863501 UniProtKB AAP, DGA 11/28/2012 110 3300008522 Rose Q9NZ20 50487 PLA2G3 Homo sapiens 9606 Comment/tissue specificity Expressed in kidney, heart, liver, and skeletal muscle. Also present in placenta and peripheral blood leukocytes. Not detected in brain, colon, thymus, spleen and small intestine. In lung, expressed in bronchial epithelial cells and alveolar macrophages, but scarcely detected in alveolar epithelium, arterial walls and interstitial fibroblasts (at protein level). In joints of osteoarthritis and rheumatoid arthritis, expressed in endothelial cells (at protein level). In normal heart, detected in some vessels. In myocardial tissues with acute infarction, expressed in vascular endothelial cells adjacent to cardiomyocytes and those in lesions with granulation. Expression in cardiomyocytes is scarce (at protein level). In uterus, breast and colon cancers, detected in tumor cells and neighboring microvascular endothelium, but not in normal glandular tissues (at protein level). skeletal joint UBERON:0000982 rheumatoid arthritis DOID:7148 Y Y ECO:0000006 PubMed:15863501 UniProtKB AAP, DGA 11/28/2012 110 3300008523 Rose Q9NZ20 50487 PLA2G3 Homo sapiens 9606 Comment/tissue specificity Expressed in kidney, heart, liver, and skeletal muscle. Also present in placenta and peripheral blood leukocytes. Not detected in brain, colon, thymus, spleen and small intestine. In lung, expressed in bronchial epithelial cells and alveolar macrophages, but scarcely detected in alveolar epithelium, arterial walls and interstitial fibroblasts (at protein level). In joints of osteoarthritis and rheumatoid arthritis, expressed in endothelial cells (at protein level). In normal heart, detected in some vessels. In myocardial tissues with acute infarction, expressed in vascular endothelial cells adjacent to cardiomyocytes and those in lesions with granulation. Expression in cardiomyocytes is scarce (at protein level). In uterus, breast and colon cancers, detected in tumor cells and neighboring microvascular endothelium, but not in normal glandular tissues (at protein level). joint BTO:0001686 osteoarthritis DOID:8398 Y Y ECO:0000006 PubMed:15863501 UniProtKB AAP, DGA 11/28/2012 110 3300008524 Rose Q9NZ20 50487 PLA2G3 Homo sapiens 9606 Comment/tissue specificity Expressed in kidney, heart, liver, and skeletal muscle. Also present in placenta and peripheral blood leukocytes. Not detected in brain, colon, thymus, spleen and small intestine. In lung, expressed in bronchial epithelial cells and alveolar macrophages, but scarcely detected in alveolar epithelium, arterial walls and interstitial fibroblasts (at protein level). In joints of osteoarthritis and rheumatoid arthritis, expressed in endothelial cells (at protein level). In normal heart, detected in some vessels. In myocardial tissues with acute infarction, expressed in vascular endothelial cells adjacent to cardiomyocytes and those in lesions with granulation. Expression in cardiomyocytes is scarce (at protein level). In uterus, breast and colon cancers, detected in tumor cells and neighboring microvascular endothelium, but not in normal glandular tissues (at protein level). skeletal joint UBERON:0000982 osteoarthritis DOID:8398 Y Y ECO:0000006 PubMed:15863501 UniProtKB AAP, DGA 11/28/2012 110 3300008525 Katie Q9NZ20 50487 PLA2G3 Homo sapiens 9606 Comment/tissue specificity Expressed in kidney, heart, liver, and skeletal muscle. Also present in placenta and peripheral blood leukocytes. Not detected in brain, colon, thymus, spleen and small intestine. In lung, expressed in bronchial epithelial cells and alveolar macrophages, but scarcely detected in alveolar epithelium, arterial walls and interstitial fibroblasts (at protein level). In joints of osteoarthritis and rheumatoid arthritis, expressed in endothelial cells (at protein level). In normal heart, detected in some vessels. In myocardial tissues with acute infarction, expressed in vascular endothelial cells adjacent to cardiomyocytes and those in lesions with granulation. Expression in cardiomyocytes is scarce (at protein level). In uterus, breast and colon cancers, detected in tumor cells and neighboring microvascular endothelium, but not in normal glandular tissues (at protein level). alveolar macrophage BTO:0000802 Y Y ECO:0000006 PubMed:15863501 UniProtKB No Uberon term AAP, DGA 11/28/2012 110 3300008528 Rose Q9NZ20 50487 PLA2G3 Homo sapiens 9606 Comment/tissue specificity Expressed in kidney, heart, liver, and skeletal muscle. Also present in placenta and peripheral blood leukocytes. Not detected in brain, colon, thymus, spleen and small intestine. In lung, expressed in bronchial epithelial cells and alveolar macrophages, but scarcely detected in alveolar epithelium, arterial walls and interstitial fibroblasts (at protein level). In joints of osteoarthritis and rheumatoid arthritis, expressed in endothelial cells (at protein level). In normal heart, detected in some vessels. In myocardial tissues with acute infarction, expressed in vascular endothelial cells adjacent to cardiomyocytes and those in lesions with granulation. Expression in cardiomyocytes is scarce (at protein level). In uterus, breast and colon cancers, detected in tumor cells and neighboring microvascular endothelium, but not in normal glandular tissues (at protein level). endothelial cell BTO:0001176 Y Y ECO:0000006 PubMed:15863501 UniProtKB No Uberon term AAP, DGA 11/28/2012 110 3300008529 Katie Q9NZ20 50487 PLA2G3 Homo sapiens 9606 Comment/tissue specificity Expressed in kidney, heart, liver, and skeletal muscle. Also present in placenta and peripheral blood leukocytes. Not detected in brain, colon, thymus, spleen and small intestine. In lung, expressed in bronchial epithelial cells and alveolar macrophages, but scarcely detected in alveolar epithelium, arterial walls and interstitial fibroblasts (at protein level). In joints of osteoarthritis and rheumatoid arthritis, expressed in endothelial cells (at protein level). In normal heart, detected in some vessels. In myocardial tissues with acute infarction, expressed in vascular endothelial cells adjacent to cardiomyocytes and those in lesions with granulation. Expression in cardiomyocytes is scarce (at protein level). In uterus, breast and colon cancers, detected in tumor cells and neighboring microvascular endothelium, but not in normal glandular tissues (at protein level). leukocyte BTO:0000751 Y Y ECO:0000006 PubMed:15863501 UniProtKB No Uberon term AAP, DGA 11/28/2012 110 3300008530 Katie Q9NZ20 50487 PLA2G3 Homo sapiens 9606 Comment/tissue specificity Expressed in kidney, heart, liver, and skeletal muscle. Also present in placenta and peripheral blood leukocytes. Not detected in brain, colon, thymus, spleen and small intestine. In lung, expressed in bronchial epithelial cells and alveolar macrophages, but scarcely detected in alveolar epithelium, arterial walls and interstitial fibroblasts (at protein level). In joints of osteoarthritis and rheumatoid arthritis, expressed in endothelial cells (at protein level). In normal heart, detected in some vessels. In myocardial tissues with acute infarction, expressed in vascular endothelial cells adjacent to cardiomyocytes and those in lesions with granulation. Expression in cardiomyocytes is scarce (at protein level). In uterus, breast and colon cancers, detected in tumor cells and neighboring microvascular endothelium, but not in normal glandular tissues (at protein level). blood vessel BTO:0001102 Y Y ECO:0000006 PubMed:15863501 UniProtKB AAP, DGA 11/28/2012 110 3300008533 Katie Q9NZ20 50487 PLA2G3 Homo sapiens 9606 Comment/tissue specificity Expressed in kidney, heart, liver, and skeletal muscle. Also present in placenta and peripheral blood leukocytes. Not detected in brain, colon, thymus, spleen and small intestine. In lung, expressed in bronchial epithelial cells and alveolar macrophages, but scarcely detected in alveolar epithelium, arterial walls and interstitial fibroblasts (at protein level). In joints of osteoarthritis and rheumatoid arthritis, expressed in endothelial cells (at protein level). In normal heart, detected in some vessels. In myocardial tissues with acute infarction, expressed in vascular endothelial cells adjacent to cardiomyocytes and those in lesions with granulation. Expression in cardiomyocytes is scarce (at protein level). In uterus, breast and colon cancers, detected in tumor cells and neighboring microvascular endothelium, but not in normal glandular tissues (at protein level). blood vessel UBERON:0001981 Y Y ECO:0000006 PubMed:15863501 UniProtKB AAP, DGA 11/28/2012 110 3300008534 Katie Q9NZ20 50487 PLA2G3 Homo sapiens 9606 Comment/tissue specificity Expressed in kidney, heart, liver, and skeletal muscle. Also present in placenta and peripheral blood leukocytes. Not detected in brain, colon, thymus, spleen and small intestine. In lung, expressed in bronchial epithelial cells and alveolar macrophages, but scarcely detected in alveolar epithelium, arterial walls and interstitial fibroblasts (at protein level). In joints of osteoarthritis and rheumatoid arthritis, expressed in endothelial cells (at protein level). In normal heart, detected in some vessels. In myocardial tissues with acute infarction, expressed in vascular endothelial cells adjacent to cardiomyocytes and those in lesions with granulation. Expression in cardiomyocytes is scarce (at protein level). In uterus, breast and colon cancers, detected in tumor cells and neighboring microvascular endothelium, but not in normal glandular tissues (at protein level). bronchial epithelium BTO:0001845 Y Y ECO:0000006 PubMed:15863501 UniProtKB AAP, DGA 11/28/2012 110 3300008535 Katie Q9NZ20 50487 PLA2G3 Homo sapiens 9606 Comment/tissue specificity Expressed in kidney, heart, liver, and skeletal muscle. Also present in placenta and peripheral blood leukocytes. Not detected in brain, colon, thymus, spleen and small intestine. In lung, expressed in bronchial epithelial cells and alveolar macrophages, but scarcely detected in alveolar epithelium, arterial walls and interstitial fibroblasts (at protein level). In joints of osteoarthritis and rheumatoid arthritis, expressed in endothelial cells (at protein level). In normal heart, detected in some vessels. In myocardial tissues with acute infarction, expressed in vascular endothelial cells adjacent to cardiomyocytes and those in lesions with granulation. Expression in cardiomyocytes is scarce (at protein level). In uterus, breast and colon cancers, detected in tumor cells and neighboring microvascular endothelium, but not in normal glandular tissues (at protein level). epithelium of bronchus UBERON:0002031 Y Y ECO:0000006 PubMed:15863501 UniProtKB AAP, DGA 11/28/2012 110 3300008536 Katie Q9NZ20 50487 PLA2G3 Homo sapiens 9606 Comment/tissue specificity Expressed in kidney, heart, liver, and skeletal muscle. Also present in placenta and peripheral blood leukocytes. Not detected in brain, colon, thymus, spleen and small intestine. In lung, expressed in bronchial epithelial cells and alveolar macrophages, but scarcely detected in alveolar epithelium, arterial walls and interstitial fibroblasts (at protein level). In joints of osteoarthritis and rheumatoid arthritis, expressed in endothelial cells (at protein level). In normal heart, detected in some vessels. In myocardial tissues with acute infarction, expressed in vascular endothelial cells adjacent to cardiomyocytes and those in lesions with granulation. Expression in cardiomyocytes is scarce (at protein level). In uterus, breast and colon cancers, detected in tumor cells and neighboring microvascular endothelium, but not in normal glandular tissues (at protein level). heart BTO:0000562 Y Y ECO:0000006 PubMed:15863501 UniProtKB AAP, DGA 11/28/2012 110 3300008537 Katie Q9NZ20 50487 PLA2G3 Homo sapiens 9606 Comment/tissue specificity Expressed in kidney, heart, liver, and skeletal muscle. Also present in placenta and peripheral blood leukocytes. Not detected in brain, colon, thymus, spleen and small intestine. In lung, expressed in bronchial epithelial cells and alveolar macrophages, but scarcely detected in alveolar epithelium, arterial walls and interstitial fibroblasts (at protein level). In joints of osteoarthritis and rheumatoid arthritis, expressed in endothelial cells (at protein level). In normal heart, detected in some vessels. In myocardial tissues with acute infarction, expressed in vascular endothelial cells adjacent to cardiomyocytes and those in lesions with granulation. Expression in cardiomyocytes is scarce (at protein level). In uterus, breast and colon cancers, detected in tumor cells and neighboring microvascular endothelium, but not in normal glandular tissues (at protein level). heart UBERON:0000948 Y Y ECO:0000006 PubMed:15863501 UniProtKB AAP, DGA 11/28/2012 110 3300008538 Katie Q9NZ20 50487 PLA2G3 Homo sapiens 9606 Comment/tissue specificity Expressed in kidney, heart, liver, and skeletal muscle. Also present in placenta and peripheral blood leukocytes. Not detected in brain, colon, thymus, spleen and small intestine. In lung, expressed in bronchial epithelial cells and alveolar macrophages, but scarcely detected in alveolar epithelium, arterial walls and interstitial fibroblasts (at protein level). In joints of osteoarthritis and rheumatoid arthritis, expressed in endothelial cells (at protein level). In normal heart, detected in some vessels. In myocardial tissues with acute infarction, expressed in vascular endothelial cells adjacent to cardiomyocytes and those in lesions with granulation. Expression in cardiomyocytes is scarce (at protein level). In uterus, breast and colon cancers, detected in tumor cells and neighboring microvascular endothelium, but not in normal glandular tissues (at protein level). kidney BTO:0000671 Y Y ECO:0000006 PubMed:15863501 UniProtKB AAP, DGA 11/28/2012 110 3300008539 Katie Q9NZ20 50487 PLA2G3 Homo sapiens 9606 Comment/tissue specificity Expressed in kidney, heart, liver, and skeletal muscle. Also present in placenta and peripheral blood leukocytes. Not detected in brain, colon, thymus, spleen and small intestine. In lung, expressed in bronchial epithelial cells and alveolar macrophages, but scarcely detected in alveolar epithelium, arterial walls and interstitial fibroblasts (at protein level). In joints of osteoarthritis and rheumatoid arthritis, expressed in endothelial cells (at protein level). In normal heart, detected in some vessels. In myocardial tissues with acute infarction, expressed in vascular endothelial cells adjacent to cardiomyocytes and those in lesions with granulation. Expression in cardiomyocytes is scarce (at protein level). In uterus, breast and colon cancers, detected in tumor cells and neighboring microvascular endothelium, but not in normal glandular tissues (at protein level). kidney UBERON:0002113 Y Y ECO:0000006 PubMed:15863501 UniProtKB AAP, DGA 11/28/2012 110 3300008540 Katie Q9NZ20 50487 PLA2G3 Homo sapiens 9606 Comment/tissue specificity Expressed in kidney, heart, liver, and skeletal muscle. Also present in placenta and peripheral blood leukocytes. Not detected in brain, colon, thymus, spleen and small intestine. In lung, expressed in bronchial epithelial cells and alveolar macrophages, but scarcely detected in alveolar epithelium, arterial walls and interstitial fibroblasts (at protein level). In joints of osteoarthritis and rheumatoid arthritis, expressed in endothelial cells (at protein level). In normal heart, detected in some vessels. In myocardial tissues with acute infarction, expressed in vascular endothelial cells adjacent to cardiomyocytes and those in lesions with granulation. Expression in cardiomyocytes is scarce (at protein level). In uterus, breast and colon cancers, detected in tumor cells and neighboring microvascular endothelium, but not in normal glandular tissues (at protein level). liver BTO:0000759 Y Y ECO:0000006 PubMed:15863501 UniProtKB AAP, DGA 11/28/2012 110 3300008541 Katie Q9NZ20 50487 PLA2G3 Homo sapiens 9606 Comment/tissue specificity Expressed in kidney, heart, liver, and skeletal muscle. Also present in placenta and peripheral blood leukocytes. Not detected in brain, colon, thymus, spleen and small intestine. In lung, expressed in bronchial epithelial cells and alveolar macrophages, but scarcely detected in alveolar epithelium, arterial walls and interstitial fibroblasts (at protein level). In joints of osteoarthritis and rheumatoid arthritis, expressed in endothelial cells (at protein level). In normal heart, detected in some vessels. In myocardial tissues with acute infarction, expressed in vascular endothelial cells adjacent to cardiomyocytes and those in lesions with granulation. Expression in cardiomyocytes is scarce (at protein level). In uterus, breast and colon cancers, detected in tumor cells and neighboring microvascular endothelium, but not in normal glandular tissues (at protein level). liver UBERON:0002107 Y Y ECO:0000006 PubMed:15863501 UniProtKB AAP, DGA 11/28/2012 110 3300008542 Katie Q9NZ20 50487 PLA2G3 Homo sapiens 9606 Comment/tissue specificity Expressed in kidney, heart, liver, and skeletal muscle. Also present in placenta and peripheral blood leukocytes. Not detected in brain, colon, thymus, spleen and small intestine. In lung, expressed in bronchial epithelial cells and alveolar macrophages, but scarcely detected in alveolar epithelium, arterial walls and interstitial fibroblasts (at protein level). In joints of osteoarthritis and rheumatoid arthritis, expressed in endothelial cells (at protein level). In normal heart, detected in some vessels. In myocardial tissues with acute infarction, expressed in vascular endothelial cells adjacent to cardiomyocytes and those in lesions with granulation. Expression in cardiomyocytes is scarce (at protein level). In uterus, breast and colon cancers, detected in tumor cells and neighboring microvascular endothelium, but not in normal glandular tissues (at protein level). placenta BTO:0001078 Y Y ECO:0000006 PubMed:15863501 UniProtKB AAP, DGA 11/28/2012 110 3300008543 Katie Q9NZ20 50487 PLA2G3 Homo sapiens 9606 Comment/tissue specificity Expressed in kidney, heart, liver, and skeletal muscle. Also present in placenta and peripheral blood leukocytes. Not detected in brain, colon, thymus, spleen and small intestine. In lung, expressed in bronchial epithelial cells and alveolar macrophages, but scarcely detected in alveolar epithelium, arterial walls and interstitial fibroblasts (at protein level). In joints of osteoarthritis and rheumatoid arthritis, expressed in endothelial cells (at protein level). In normal heart, detected in some vessels. In myocardial tissues with acute infarction, expressed in vascular endothelial cells adjacent to cardiomyocytes and those in lesions with granulation. Expression in cardiomyocytes is scarce (at protein level). In uterus, breast and colon cancers, detected in tumor cells and neighboring microvascular endothelium, but not in normal glandular tissues (at protein level). placenta UBERON:0001987 Y Y ECO:0000006 PubMed:15863501 UniProtKB AAP, DGA 11/28/2012 110 3300008544 Katie Q9NZ20 50487 PLA2G3 Homo sapiens 9606 Comment/tissue specificity Expressed in kidney, heart, liver, and skeletal muscle. Also present in placenta and peripheral blood leukocytes. Not detected in brain, colon, thymus, spleen and small intestine. In lung, expressed in bronchial epithelial cells and alveolar macrophages, but scarcely detected in alveolar epithelium, arterial walls and interstitial fibroblasts (at protein level). In joints of osteoarthritis and rheumatoid arthritis, expressed in endothelial cells (at protein level). In normal heart, detected in some vessels. In myocardial tissues with acute infarction, expressed in vascular endothelial cells adjacent to cardiomyocytes and those in lesions with granulation. Expression in cardiomyocytes is scarce (at protein level). In uterus, breast and colon cancers, detected in tumor cells and neighboring microvascular endothelium, but not in normal glandular tissues (at protein level). skeletal muscle BTO:0001103 Y Y ECO:0000006 PubMed:15863501 UniProtKB AAP, DGA 11/28/2012 110 3300008545 Katie Q9NZ20 50487 PLA2G3 Homo sapiens 9606 Comment/tissue specificity Expressed in kidney, heart, liver, and skeletal muscle. Also present in placenta and peripheral blood leukocytes. Not detected in brain, colon, thymus, spleen and small intestine. In lung, expressed in bronchial epithelial cells and alveolar macrophages, but scarcely detected in alveolar epithelium, arterial walls and interstitial fibroblasts (at protein level). In joints of osteoarthritis and rheumatoid arthritis, expressed in endothelial cells (at protein level). In normal heart, detected in some vessels. In myocardial tissues with acute infarction, expressed in vascular endothelial cells adjacent to cardiomyocytes and those in lesions with granulation. Expression in cardiomyocytes is scarce (at protein level). In uterus, breast and colon cancers, detected in tumor cells and neighboring microvascular endothelium, but not in normal glandular tissues (at protein level). skeletal muscle tissue UBERON:0001134 Y Y ECO:0000006 PubMed:15863501 UniProtKB AAP, DGA 11/28/2012 110 3300008546 Katie Q9NZ20 50487 PLA2G3 Homo sapiens 9606 EC 3.1.1.4 Y Y ECO:0000311 EC number UniProtKB AAP, DGA 11/28/2012 110 3300008547 Rose P47712 5321 PLA2G4A Homo sapiens 9606 Comment/subcellular location Cytoplasm cytoplasm GO:0005737 SL-0086 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 140 3300008549 Rose P47712 5321 PLA2G4A Homo sapiens 9606 Comment/subcellular location Cytoplasmic vesicle cytoplasmic membrane-bounded vesicle GO:0016023 SL-0088 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 140 3300008550 Rose P47712 5321 PLA2G4A Homo sapiens 9606 Comment/tissue specificity Expressed in various tissues such as macrophages, platelets, neutrophils, fibroblasts and lung endothelium. blood platelet BTO:0000132 Y Y ECO:0000311 UniProtKB No Uberon term AAP 11/28/2012 140 3300008552 Rose P47712 5321 PLA2G4A Homo sapiens 9606 Comment/tissue specificity Expressed in various tissues such as macrophages, platelets, neutrophils, fibroblasts and lung endothelium. fibroblast BTO:0000452 Y Y ECO:0000311 UniProtKB No Uberon term AAP 11/28/2012 140 3300008553 Rose P47712 5321 PLA2G4A Homo sapiens 9606 Comment/tissue specificity Expressed in various tissues such as macrophages, platelets, neutrophils, fibroblasts and lung endothelium. macrophage BTO:0000801 Y Y ECO:0000311 UniProtKB No Uberon term AAP 11/28/2012 140 3300008554 Rose P47712 5321 PLA2G4A Homo sapiens 9606 Comment/tissue specificity Expressed in various tissues such as macrophages, platelets, neutrophils, fibroblasts and lung endothelium. neutrophil BTO:0000130 Y Y ECO:0000311 UniProtKB No Uberon term AAP 11/28/2012 140 3300008555 Rose P47712 5321 PLA2G4A Homo sapiens 9606 Comment/tissue specificity Expressed in various tissues such as macrophages, platelets, neutrophils, fibroblasts and lung endothelium. lung endothelium BTO:0004128 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 140 3300008556 Rose P47712 5321 PLA2G4A Homo sapiens 9606 Comment/tissue specificity Expressed in various tissues such as macrophages, platelets, neutrophils, fibroblasts and lung endothelium. lung endothelium UBERON:0013479 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 140 3300008557 Mike P0C869 100137049 PLA2G4B Homo sapiens 9606 Comment/subcellular location Early endosome membrane;Peripheral membrane protein early endosome membrane GO:0031901 SL-0093 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 45 3300008561 Mike P0C869 100137049 PLA2G4B Homo sapiens 9606 Comment/subcellular location Mitochondrion membrane;Peripheral membrane protein mitochondrial membrane GO:0031966 SL-0171 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 45 3300008562 Mike P0C869 100137049 PLA2G4B Homo sapiens 9606 Comment/tissue specificity Widely expressed. Expressed at higher level in brain, heart, liver, cerebellum and pancreas. Isoform 3 is widely expressed. brain BTO:0000142 Y Y ECO:0000006 PubMed:10085124 PubMed:10358058 PubMed:16617059 UniProtKB AAP 11/28/2012 45 3300008566 Mike P0C869 100137049 PLA2G4B Homo sapiens 9606 Comment/tissue specificity Widely expressed. Expressed at higher level in brain, heart, liver, cerebellum and pancreas. Isoform 3 is widely expressed. brain UBERON:0000955 Y Y ECO:0000006 PubMed:10085124 PubMed:10358058 PubMed:16617059 UniProtKB AAP 11/28/2012 45 3300008567 Mike P0C869 100137049 PLA2G4B Homo sapiens 9606 Comment/tissue specificity Widely expressed. Expressed at higher level in brain, heart, liver, cerebellum and pancreas. Isoform 3 is widely expressed. cerebellum BTO:0000232 Y Y ECO:0000006 PubMed:10085124 PubMed:10358058 PubMed:16617059 UniProtKB AAP 11/28/2012 45 3300008568 Mike P0C869 100137049 PLA2G4B Homo sapiens 9606 Comment/tissue specificity Widely expressed. Expressed at higher level in brain, heart, liver, cerebellum and pancreas. Isoform 3 is widely expressed. cerebellum UBERON:0002037 Y Y ECO:0000006 PubMed:10085124 PubMed:10358058 PubMed:16617059 UniProtKB AAP 11/28/2012 45 3300008569 Mike P0C869 100137049 PLA2G4B Homo sapiens 9606 Comment/tissue specificity Widely expressed. Expressed at higher level in brain, heart, liver, cerebellum and pancreas. Isoform 3 is widely expressed. heart BTO:0000562 Y Y ECO:0000006 PubMed:10085124 PubMed:10358058 PubMed:16617059 UniProtKB AAP 11/28/2012 45 3300008570 Mike P0C869 100137049 PLA2G4B Homo sapiens 9606 Comment/tissue specificity Widely expressed. Expressed at higher level in brain, heart, liver, cerebellum and pancreas. Isoform 3 is widely expressed. heart UBERON:0000948 Y Y ECO:0000006 PubMed:10085124 PubMed:10358058 PubMed:16617059 UniProtKB AAP 11/28/2012 45 3300008571 Mike P0C869 100137049 PLA2G4B Homo sapiens 9606 Comment/tissue specificity Widely expressed. Expressed at higher level in brain, heart, liver, cerebellum and pancreas. Isoform 3 is widely expressed. liver BTO:0000759 Y Y ECO:0000006 PubMed:10085124 PubMed:10358058 PubMed:16617059 UniProtKB AAP 11/28/2012 45 3300008572 Mike P0C869 100137049 PLA2G4B Homo sapiens 9606 Comment/tissue specificity Widely expressed. Expressed at higher level in brain, heart, liver, cerebellum and pancreas. Isoform 3 is widely expressed. liver UBERON:0002107 Y Y ECO:0000006 PubMed:10085124 PubMed:10358058 PubMed:16617059 UniProtKB AAP 11/28/2012 45 3300008573 Mike P0C869 100137049 PLA2G4B Homo sapiens 9606 Comment/tissue specificity Widely expressed. Expressed at higher level in brain, heart, liver, cerebellum and pancreas. Isoform 3 is widely expressed. pancreas BTO:0000988 Y Y ECO:0000006 PubMed:10085124 PubMed:10358058 PubMed:16617059 UniProtKB AAP 11/28/2012 45 3300008574 Mike P0C869 100137049 PLA2G4B Homo sapiens 9606 Comment/tissue specificity Widely expressed. Expressed at higher level in brain, heart, liver, cerebellum and pancreas. Isoform 3 is widely expressed. pancreas UBERON:0001264 Y Y ECO:0000006 PubMed:10085124 PubMed:10358058 PubMed:16617059 UniProtKB AAP 11/28/2012 45 3300008575 Mike P0C869 100137049 PLA2G4B Homo sapiens 9606 EC 3.1.1.4 Y Y ECO:0000311 EC number UniProtKB AAP 11/28/2012 45 3300008576 Katie Q9UP65 8605 PLA2G4C Homo sapiens 9606 Comment/function Has a preference for arachidonic acid at the sn-2 position of phosphatidylcholine as compared with palmitic acid. phospholipid metabolic process GO:0006644 Y Y ECO:0000006 PubMed:10085124 UniProtKB AAP 11/28/2012 93 3300008577 Katie Q9UP65 8605 PLA2G4C Homo sapiens 9606 Comment/subcellular location Membrane;Lipid-anchor membrane GO:0016020 SL-0162 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 93 3300008578 Katie Q9UP65 8605 PLA2G4C Homo sapiens 9606 Comment/tissue specificity Highly expressed in heart and skeletal muscle. heart BTO:0000562 Y Y ECO:0000006 PubMed:10085124 PubMed:9705332 UniProtKB AAP 11/28/2012 93 3300008579 Katie Q9UP65 8605 PLA2G4C Homo sapiens 9606 Comment/tissue specificity Highly expressed in heart and skeletal muscle. heart UBERON:0000948 Y Y ECO:0000006 PubMed:10085124 PubMed:9705332 UniProtKB AAP 11/28/2012 93 3300008580 Katie Q9UP65 8605 PLA2G4C Homo sapiens 9606 Comment/tissue specificity Highly expressed in heart and skeletal muscle. skeletal muscle BTO:0001103 Y Y ECO:0000006 PubMed:10085124 PubMed:9705332 UniProtKB AAP 11/28/2012 93 3300008581 Katie Q9UP65 8605 PLA2G4C Homo sapiens 9606 Comment/tissue specificity Highly expressed in heart and skeletal muscle. skeletal muscle tissue UBERON:0001134 Y Y ECO:0000006 PubMed:10085124 PubMed:9705332 UniProtKB AAP 11/28/2012 93 3300008582 Katie Q9UP65 8605 PLA2G4C Homo sapiens 9606 EC 3.1.1.4 Y Y ECO:0000311 EC number UniProtKB AAP 11/28/2012 93 3300008583 Faith Q86XP0 283748 PLA2G4D Homo sapiens 9606 Comment/function Calcium-dependent phospholipase A2 that selectively hydrolyzes glycerophospholipids in the sn-2 position. Not arachidonic acid-specific but has linoleic acid-specific activity. May play a role in inflammation in psoriatic lesions. psoriasis DOID:8893 Y Y ECO:0000006 PubMed:14709560 UniProtKB AAP 11/28/2012 82 3300008584 Faith Q86XP0 283748 PLA2G4D Homo sapiens 9606 Comment/subcellular location Cytoplasmic vesicle membrane;Peripheral membrane protein cytoplasmic vesicle membrane GO:0030659 SL-0089 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 82 3300008586 Faith Q86XP0 283748 PLA2G4D Homo sapiens 9606 Comment/subcellular location Cytosol cytosol GO:0005829 SL-0091 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 82 3300008587 Faith Q86XP0 283748 PLA2G4D Homo sapiens 9606 Comment/tissue specificity Expressed in stratified squamous epithelia, such as those in skin and cervix, but not in other tissues. Strongly expressed in the upper spinous layer of the psoriatic epidermis, expressed weakly and discontinuously in atopic dermatitis and mycosis fungoides, and not detected in the epidermis of normal skin. atopic dermatitis DOID:3310 Y Y ECO:0000006 PubMed:14709560 UniProtKB discontinuously in atopic dermatitis; expressed weakly and discontinuously AAP 11/28/2012 82 3300008589 Faith Q86XP0 283748 PLA2G4D Homo sapiens 9606 Comment/tissue specificity Expressed in stratified squamous epithelia, such as those in skin and cervix, but not in other tissues. Strongly expressed in the upper spinous layer of the psoriatic epidermis, expressed weakly and discontinuously in atopic dermatitis and mycosis fungoides, and not detected in the epidermis of normal skin. mycosis fungoides DOID:8691 Y Y ECO:0000006 PubMed:14709560 UniProtKB expressed weakly and discontinuously; mycosis fungoides AAP 11/28/2012 82 3300008590 Faith Q86XP0 283748 PLA2G4D Homo sapiens 9606 Comment/tissue specificity Expressed in stratified squamous epithelia, such as those in skin and cervix, but not in other tissues. Strongly expressed in the upper spinous layer of the psoriatic epidermis, expressed weakly and discontinuously in atopic dermatitis and mycosis fungoides, and not detected in the epidermis of normal skin. stratum spinosum BTO:0000435 psoriasis DOID:8893 Y Y ECO:0000006 PubMed:14709560 UniProtKB strongly expressed AAP 11/28/2012 82 3300008591 Faith Q86XP0 283748 PLA2G4D Homo sapiens 9606 Comment/tissue specificity Expressed in stratified squamous epithelia, such as those in skin and cervix, but not in other tissues. Strongly expressed in the upper spinous layer of the psoriatic epidermis, expressed weakly and discontinuously in atopic dermatitis and mycosis fungoides, and not detected in the epidermis of normal skin. stratum spinosum of epidermis UBERON:0002026 psoriasis DOID:8893 Y Y ECO:0000006 PubMed:14709560 UniProtKB strongly expressed AAP 11/28/2012 82 3300008592 Faith Q86XP0 283748 PLA2G4D Homo sapiens 9606 Comment/tissue specificity Expressed in stratified squamous epithelia, such as those in skin and cervix, but not in other tissues. Strongly expressed in the upper spinous layer of the psoriatic epidermis, expressed weakly and discontinuously in atopic dermatitis and mycosis fungoides, and not detected in the epidermis of normal skin. squamous epithelium BTO:0002072 Y Y ECO:0000006 PubMed:14709560 UniProtKB Did not find 'stratified' in BRENDA AAP 11/28/2012 82 3300008593 Faith Q86XP0 283748 PLA2G4D Homo sapiens 9606 Comment/tissue specificity Expressed in stratified squamous epithelia, such as those in skin and cervix, but not in other tissues. Strongly expressed in the upper spinous layer of the psoriatic epidermis, expressed weakly and discontinuously in atopic dermatitis and mycosis fungoides, and not detected in the epidermis of normal skin. stratified squamous epithelium UBERON:0006915 Y Y ECO:0000006 PubMed:14709560 UniProtKB Did not find 'stratified' in BRENDA AAP 11/28/2012 82 3300008594 Faith Q86XP0 283748 PLA2G4D Homo sapiens 9606 Comment/tissue specificity Expressed in stratified squamous epithelia, such as those in skin and cervix, but not in other tissues. Strongly expressed in the upper spinous layer of the psoriatic epidermis, expressed weakly and discontinuously in atopic dermatitis and mycosis fungoides, and not detected in the epidermis of normal skin. cervical epithelium BTO:0000241 Y Y ECO:0000006 PubMed:14709560 UniProtKB In Uberon, did not find 'stratified'. In BRENDA: cervical endothelium and cervical squamous epithelial cell AAP 11/28/2012 82 3300008596 Faith Q86XP0 283748 PLA2G4D Homo sapiens 9606 Comment/tissue specificity Expressed in stratified squamous epithelia, such as those in skin and cervix, but not in other tissues. Strongly expressed in the upper spinous layer of the psoriatic epidermis, expressed weakly and discontinuously in atopic dermatitis and mycosis fungoides, and not detected in the epidermis of normal skin. cervix squamous epithelium UBERON:0006922 Y Y ECO:0000006 PubMed:14709560 UniProtKB In Uberon, did not find 'stratified'. In BRENDA: cervical endothelium and cervical squamous epithelial cell AAP 11/28/2012 82 3300008597 Faith Q86XP0 283748 PLA2G4D Homo sapiens 9606 EC 3.1.1.4 Y Y ECO:0000311 EC number UniProtKB AAP 11/28/2012 82 3300008601 Faith Q3MJ16 123745 PLA2G4E Homo sapiens 9606 Comment/subcellular location Cytosol cytosol GO:0005829 SL-0091 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 70 3300008603 Faith Q3MJ16 123745 PLA2G4E Homo sapiens 9606 Comment/subcellular location Lysosome membrane;Peripheral membrane protein lysosomal membrane GO:0005765 SL-0157 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 70 3300008604 Faith Q3MJ16 123745 PLA2G4E Homo sapiens 9606 EC 3.1.1.4 Y Y ECO:0000311 EC number UniProtKB AAP 11/28/2012 70 3300008606 Faith Q68DD2 255189 PLA2G4F Homo sapiens 9606 Comment/subcellular location Cytosol cytosol GO:0005829 SL-0091 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 72 3300008608 Faith Q68DD2 255189 PLA2G4F Homo sapiens 9606 Comment/subcellular location Lysosome membrane;Peripheral membrane protein lysosomal membrane GO:0005765 SL-0157 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 72 3300008609 Faith Q68DD2 255189 PLA2G4F Homo sapiens 9606 EC 3.1.1.4 Y Y ECO:0000311 EC number UniProtKB AAP 11/28/2012 72 3300008611 Rose P39877 5322 PLA2G5 Homo sapiens 9606 Comment/Involvement in disease Fleck retina, familial benign (FRFB) [MIM:228980]: An autosomal recessive condition associated with a distinctive retinal appearance and no apparent visual or electrophysiologic deficits. Affected individuals are asymptomatic, but fundus examination reveals a striking pattern of diffuse, yellow-white, fleck-like lesions extending to the far periphery of the retina but sparing the foveal region. Note=The disease is caused by mutations affecting the gene represented in this entry. MIM:228980 retinal disease DOID:5679 The disease is caused by mutations affecting the gene represented in this entry. Y Y ECO:0000006 PubMed:22137173 UniProtKB HDO term more general than OMIM. AAP 5/1/2013 126 3300008613 Rose P39877 5322 PLA2G5 Homo sapiens 9606 Comment/Involvement in disease Fleck retina, familial benign (FRFB) [MIM:228980]: An autosomal recessive condition associated with a distinctive retinal appearance and no apparent visual or electrophysiologic deficits. Affected individuals are asymptomatic, but fundus examination reveals a striking pattern of diffuse, yellow-white, fleck-like lesions extending to the far periphery of the retina but sparing the foveal region. Note=The disease is caused by mutations affecting the gene represented in this entry. MIM:228980 Retinal flecking SNOMEDCT:247138002 The disease is caused by mutations affecting the gene represented in this entry. Y Y ECO:0000006 PubMed:22137173 UniProtKB HDO term more general than OMIM. AAP 5/1/2013 126 3300008614 Rose P39877 5322 PLA2G5 Homo sapiens 9606 Comment/subcellular location Secreted extracellular region GO:0005576 SL-0243 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 123 3300008615 Rose P39877 5322 PLA2G5 Homo sapiens 9606 Comment/tissue specificity Heart, placenta and less abundantly, in lung. Detected in the outer and inner plexiform layers of the retina (at protein level). heart BTO:0000562 Y Y ECO:0000006 PubMed:22137173 UniProtKB AAP 11/28/2012 123 3300008618 Rose P39877 5322 PLA2G5 Homo sapiens 9606 Comment/tissue specificity Heart, placenta and less abundantly, in lung. Detected in the outer and inner plexiform layers of the retina (at protein level). heart UBERON:0000948 Y Y ECO:0000006 PubMed:22137173 UniProtKB AAP 11/28/2012 123 3300008619 Rose P39877 5322 PLA2G5 Homo sapiens 9606 Comment/tissue specificity Heart, placenta and less abundantly, in lung. Detected in the outer and inner plexiform layers of the retina (at protein level). lung BTO:0000763 Y Y ECO:0000006 PubMed:22137173 UniProtKB AAP 11/28/2012 123 3300008620 Rose P39877 5322 PLA2G5 Homo sapiens 9606 Comment/tissue specificity Heart, placenta and less abundantly, in lung. Detected in the outer and inner plexiform layers of the retina (at protein level). lung UBERON:0002048 Y Y ECO:0000006 PubMed:22137173 UniProtKB AAP 11/28/2012 123 3300008621 Rose P39877 5322 PLA2G5 Homo sapiens 9606 Comment/tissue specificity Heart, placenta and less abundantly, in lung. Detected in the outer and inner plexiform layers of the retina (at protein level). placenta BTO:0001078 Y Y ECO:0000006 PubMed:22137173 UniProtKB AAP 11/28/2012 123 3300008622 Rose P39877 5322 PLA2G5 Homo sapiens 9606 Comment/tissue specificity Heart, placenta and less abundantly, in lung. Detected in the outer and inner plexiform layers of the retina (at protein level). placenta UBERON:0001987 Y Y ECO:0000006 PubMed:22137173 UniProtKB AAP 11/28/2012 123 3300008623 Rose P39877 5322 PLA2G5 Homo sapiens 9606 Comment/tissue specificity Heart, placenta and less abundantly, in lung. Detected in the outer and inner plexiform layers of the retina (at protein level). retina BTO:0001175 Y Y ECO:0000006 PubMed:22137173 UniProtKB AAP 11/28/2012 123 3300008624 Rose P39877 5322 PLA2G5 Homo sapiens 9606 Comment/tissue specificity Heart, placenta and less abundantly, in lung. Detected in the outer and inner plexiform layers of the retina (at protein level). retina UBERON:0000966 Y Y ECO:0000006 PubMed:22137173 UniProtKB AAP 11/28/2012 123 3300008625 Rose P39877 5322 PLA2G5 Homo sapiens 9606 EC 3.1.1.4 Y Y ECO:0000311 EC number UniProtKB AAP 11/28/2012 123 3300008626 Mike O60733 8398 PLA2G6 Homo sapiens 9606 Comment/Involvement in disease Parkinson disease 14 (PARK14) [MIM:612953]: An adult-onset progressive neurodegenerative disorder characterized by parkinsonism, dystonia, severe cognitive decline, cerebral and cerebellar atrophy and absent iron in the basal ganglia on magnetic resonance imaging. Note=The disease is caused by mutations affecting the gene represented in this entry. MIM:612953 Parkinson's disease DOID:14330 The disease is caused by mutations affecting the gene represented in this entry. Y Y ECO:0000006 PubMed:18570303 UniProtKB The OMIM term is more specific than the HDO term. ICD:332 332.0 AAP, DGA 5/1/2013 131 3300008629 Mike O60733 8398 PLA2G6 Homo sapiens 9606 Comment/Involvement in disease Neurodegeneration with brain iron accumulation 2A (NBIA2A) [MIM:256600]: A neurodegenerative disease characterized by pathologic axonal swelling and spheroid bodies in the central nervous system. Onset is within the first 2 years of life with death by age 10 years. Note=The disease is caused by mutations affecting the gene represented in this entry. MIM:256600 The disease is caused by mutations affecting the gene represented in this entry. Y Y ECO:0000311 UniProtKB AAP, DGA 5/1/2013 131 3300008630 Mike O60733 8398 PLA2G6 Homo sapiens 9606 Comment/Involvement in disease Neurodegeneration with brain iron accumulation 2B (NBIA2B) [MIM:610217]: A neurodegenerative disorder associated with iron accumulation in the brain, primarily in the basal ganglia. It is characterized by progressive extrapyramidal dysfunction leading to rigidity, dystonia, dysarthria and sensorimotor impairment. Note=The disease is caused by mutations affecting the gene represented in this entry. MIM:610217 The disease is caused by mutations affecting the gene represented in this entry. Y Y ECO:0000006 PubMed:16783378 UniProtKB AAP, DGA 5/1/2013 131 3300008631 Mike O60733 8398 PLA2G6 Homo sapiens 9606 EC 3.1.1.4 Y Y ECO:0000311 EC number UniProtKB AAP, DGA 1/9/2013 128 3300008634 Faith Q6P1J6 151056 PLB1 Homo sapiens 9606 Comment/tissue specificity Expressed in the epidermis (at protein level). epidermis BTO:0000404 Y Y ECO:0000006 PubMed:12150957 UniProtKB protein level AAP 11/28/2012 77 3300008639 Faith Q6P1J6 151056 PLB1 Homo sapiens 9606 Comment/tissue specificity Expressed in the epidermis (at protein level). epidermis UBERON:0001003 Y Y ECO:0000006 PubMed:12150957 UniProtKB protein level AAP 11/28/2012 77 3300008640 Faith Q96AD5 57104 PNPLA2 Homo sapiens 9606 Comment/developmental stage Induced during differentiation of primary preadipocytes to adipocytes. Expression increased from fetal to adult in retinal pigment epithelium. preadipocyte BTO:0001107 preadipocyte CL:0002334 Y Y ECO:0000006 PubMed:17032652 PubMed:16249444 PubMed:16705060 UniProtKB Difficult to capture developmental information. AAP 6/26/2013 87 3300008641 Faith Q96AD5 57104 PNPLA2 Homo sapiens 9606 EC 3.1.1.3 Y Y EC number UniProtKB AAP 6/26/2013 87 3300008642 Faith Q96AD5 57104 PNPLA2 Homo sapiens 9606 Comment/tissue specificity Highest expression in adipose tissue. Also detected in heart, skeletal muscle, and portions of the gastrointestinal tract. Detected in normal retina and retinoblastoma cells. Detected in retinal pigment epithelium and, at lower intensity, in the inner segments of photoreceptors and in the ganglion cell layer of the neural retina (at protein level). adipose tissue BTO:0001487 Y Y ECO:0000006 PubMed:15550674 PubMed:17032652 PubMed:16249444 PubMed:16150821 UniProtKB Highest expression AAP 6/26/2013 87 3300008647 Faith Q96AD5 57104 PNPLA2 Homo sapiens 9606 Comment/tissue specificity Highest expression in adipose tissue. Also detected in heart, skeletal muscle, and portions of the gastrointestinal tract. Detected in normal retina and retinoblastoma cells. Detected in retinal pigment epithelium and, at lower intensity, in the inner segments of photoreceptors and in the ganglion cell layer of the neural retina (at protein level). adipose tissue UBERON:0001013 Y Y ECO:0000006 PubMed:15550674 PubMed:17032652 PubMed:16249444 PubMed:16150821 UniProtKB Highest expression AAP 6/26/2013 87 3300008648 Faith Q96AD5 57104 PNPLA2 Homo sapiens 9606 Comment/tissue specificity Highest expression in adipose tissue. Also detected in heart, skeletal muscle, and portions of the gastrointestinal tract. Detected in normal retina and retinoblastoma cells. Detected in retinal pigment epithelium and, at lower intensity, in the inner segments of photoreceptors and in the ganglion cell layer of the neural retina (at protein level). heart BTO:0000562 Y Y ECO:0000006 PubMed:15550674 PubMed:17032652 PubMed:16249444 PubMed:16150821 UniProtKB AAP 6/26/2013 87 3300008649 Faith Q96AD5 57104 PNPLA2 Homo sapiens 9606 Comment/tissue specificity Highest expression in adipose tissue. Also detected in heart, skeletal muscle, and portions of the gastrointestinal tract. Detected in normal retina and retinoblastoma cells. Detected in retinal pigment epithelium and, at lower intensity, in the inner segments of photoreceptors and in the ganglion cell layer of the neural retina (at protein level). heart UBERON:0000948 Y Y ECO:0000006 PubMed:15550674 PubMed:17032652 PubMed:16249444 PubMed:16150821 UniProtKB AAP 6/26/2013 87 3300008650 Faith Q96AD5 57104 PNPLA2 Homo sapiens 9606 Comment/tissue specificity Highest expression in adipose tissue. Also detected in heart, skeletal muscle, and portions of the gastrointestinal tract. Detected in normal retina and retinoblastoma cells. Detected in retinal pigment epithelium and, at lower intensity, in the inner segments of photoreceptors and in the ganglion cell layer of the neural retina (at protein level). skeletal muscle BTO:0001103 Y Y ECO:0000006 PubMed:15550674 PubMed:17032652 PubMed:16249444 PubMed:16150821 UniProtKB AAP 6/26/2013 87 3300008651 Faith Q96AD5 57104 PNPLA2 Homo sapiens 9606 Comment/tissue specificity Highest expression in adipose tissue. Also detected in heart, skeletal muscle, and portions of the gastrointestinal tract. Detected in normal retina and retinoblastoma cells. Detected in retinal pigment epithelium and, at lower intensity, in the inner segments of photoreceptors and in the ganglion cell layer of the neural retina (at protein level). skeletal muscle tissue UBERON:0001134 Y Y ECO:0000006 PubMed:15550674 PubMed:17032652 PubMed:16249444 PubMed:16150821 UniProtKB AAP 6/26/2013 87 3300008652 Faith Q96AD5 57104 PNPLA2 Homo sapiens 9606 Comment/tissue specificity Highest expression in adipose tissue. Also detected in heart, skeletal muscle, and portions of the gastrointestinal tract. Detected in normal retina and retinoblastoma cells. Detected in retinal pigment epithelium and, at lower intensity, in the inner segments of photoreceptors and in the ganglion cell layer of the neural retina (at protein level). gastrointestinal tract BTO:0000511 Y Y ECO:0000006 PubMed:15550674 PubMed:17032652 PubMed:16249444 PubMed:16150821 UniProtKB Is there a more specific location in one of the publications? AAP 6/26/2013 87 3300008653 Faith Q96AD5 57104 PNPLA2 Homo sapiens 9606 Comment/tissue specificity Highest expression in adipose tissue. Also detected in heart, skeletal muscle, and portions of the gastrointestinal tract. Detected in normal retina and retinoblastoma cells. Detected in retinal pigment epithelium and, at lower intensity, in the inner segments of photoreceptors and in the ganglion cell layer of the neural retina (at protein level). digestive tract UBERON:0001555 Y Y ECO:0000006 PubMed:15550674 PubMed:17032652 PubMed:16249444 PubMed:16150821 UniProtKB Is there a more specific location in one of the publications? AAP 6/26/2013 87 3300008654 Faith Q96AD5 57104 PNPLA2 Homo sapiens 9606 Comment/tissue specificity Highest expression in adipose tissue. Also detected in heart, skeletal muscle, and portions of the gastrointestinal tract. Detected in normal retina and retinoblastoma cells. Detected in retinal pigment epithelium and, at lower intensity, in the inner segments of photoreceptors and in the ganglion cell layer of the neural retina (at protein level). retina BTO:0001175 Y Y ECO:0000006 PubMed:15550674 PubMed:17032652 PubMed:16249444 PubMed:16150821 UniProtKB AAP 6/26/2013 87 3300008655 Faith Q96AD5 57104 PNPLA2 Homo sapiens 9606 Comment/tissue specificity Highest expression in adipose tissue. Also detected in heart, skeletal muscle, and portions of the gastrointestinal tract. Detected in normal retina and retinoblastoma cells. Detected in retinal pigment epithelium and, at lower intensity, in the inner segments of photoreceptors and in the ganglion cell layer of the neural retina (at protein level). retina UBERON:0000966 Y Y ECO:0000006 PubMed:15550674 PubMed:17032652 PubMed:16249444 PubMed:16150821 UniProtKB AAP 6/26/2013 87 3300008656 Faith Q96AD5 57104 PNPLA2 Homo sapiens 9606 Comment/tissue specificity Highest expression in adipose tissue. Also detected in heart, skeletal muscle, and portions of the gastrointestinal tract. Detected in normal retina and retinoblastoma cells. Detected in retinal pigment epithelium and, at lower intensity, in the inner segments of photoreceptors and in the ganglion cell layer of the neural retina (at protein level). retinoblastoma cell BTO:0001178 Y Y ECO:0000006 PubMed:15550674 PubMed:17032652 PubMed:16249444 PubMed:16150821 UniProtKB AAP 6/26/2013 87 3300008657 Faith Q96AD5 57104 PNPLA2 Homo sapiens 9606 Comment/tissue specificity Highest expression in adipose tissue. Also detected in heart, skeletal muscle, and portions of the gastrointestinal tract. Detected in normal retina and retinoblastoma cells. Detected in retinal pigment epithelium and, at lower intensity, in the inner segments of photoreceptors and in the ganglion cell layer of the neural retina (at protein level). retinal pigment epithelium BTO:0001177 Y Y ECO:0000006 PubMed:15550674 PubMed:17032652 PubMed:16249444 PubMed:16150821 UniProtKB AAP 6/26/2013 87 3300008658 Faith Q96AD5 57104 PNPLA2 Homo sapiens 9606 Comment/tissue specificity Highest expression in adipose tissue. Also detected in heart, skeletal muscle, and portions of the gastrointestinal tract. Detected in normal retina and retinoblastoma cells. Detected in retinal pigment epithelium and, at lower intensity, in the inner segments of photoreceptors and in the ganglion cell layer of the neural retina (at protein level). pigmented layer of retina UBERON:0001782 Y Y ECO:0000006 PubMed:15550674 PubMed:17032652 PubMed:16249444 PubMed:16150821 UniProtKB AAP 6/26/2013 87 3300008659 Faith Q96AD5 57104 PNPLA2 Homo sapiens 9606 Comment/tissue specificity Highest expression in adipose tissue. Also detected in heart, skeletal muscle, and portions of the gastrointestinal tract. Detected in normal retina and retinoblastoma cells. Detected in retinal pigment epithelium and, at lower intensity, in the inner segments of photoreceptors and in the ganglion cell layer of the neural retina (at protein level). photoreceptor BTO:0001060 Y Y ECO:0000006 PubMed:15550674 PubMed:17032652 PubMed:16249444 PubMed:16150821 UniProtKB expressed at lower intensity AAP 6/26/2013 87 3300008660 Faith Q96AD5 57104 PNPLA2 Homo sapiens 9606 Comment/tissue specificity Highest expression in adipose tissue. Also detected in heart, skeletal muscle, and portions of the gastrointestinal tract. Detected in normal retina and retinoblastoma cells. Detected in retinal pigment epithelium and, at lower intensity, in the inner segments of photoreceptors and in the ganglion cell layer of the neural retina (at protein level). photoreceptor inner segment layer UBERON:0003925 Y Y ECO:0000006 PubMed:15550674 PubMed:17032652 PubMed:16249444 PubMed:16150821 UniProtKB expressed at lower intensity AAP 6/26/2013 87 3300008661 Faith Q96AD5 57104 PNPLA2 Homo sapiens 9606 Comment/tissue specificity Highest expression in adipose tissue. Also detected in heart, skeletal muscle, and portions of the gastrointestinal tract. Detected in normal retina and retinoblastoma cells. Detected in retinal pigment epithelium and, at lower intensity, in the inner segments of photoreceptors and in the ganglion cell layer of the neural retina (at protein level). ganglion cell layer BTO:0003398 Y Y ECO:0000006 PubMed:15550674 PubMed:17032652 PubMed:16249444 PubMed:16150821 UniProtKB expressed at lower intensity AAP 6/26/2013 87 3300008662 Faith Q96AD5 57104 PNPLA2 Homo sapiens 9606 Comment/tissue specificity Highest expression in adipose tissue. Also detected in heart, skeletal muscle, and portions of the gastrointestinal tract. Detected in normal retina and retinoblastoma cells. Detected in retinal pigment epithelium and, at lower intensity, in the inner segments of photoreceptors and in the ganglion cell layer of the neural retina (at protein level). ganglionic layer of retina UBERON:0001792 Y Y ECO:0000006 PubMed:15550674 PubMed:17032652 PubMed:16249444 PubMed:16150821 UniProtKB expressed at lower intensity AAP 6/26/2013 87 3300008663 Faith Q96AD5 57104 PNPLA2 Homo sapiens 9606 Comment/developmental stage Induced during differentiation of primary preadipocytes to adipocytes. Expression increased from fetal to adult in retinal pigment epithelium. adipocyte BTO:0000443 Y Y ECO:0000006 PubMed:17032652 PubMed:16249444 PubMed:16705060 UniProtKB Difficult to capture developmental information. AAP 6/26/2013 87 3300008664 Faith Q96AD5 57104 PNPLA2 Homo sapiens 9606 Comment/developmental stage Induced during differentiation of primary preadipocytes to adipocytes. Expression increased from fetal to adult in retinal pigment epithelium. retinal pigment epithelium BTO:0001177 fetus BTO:0000449 Y Y ECO:0000006 PubMed:17032652 PubMed:16249444 PubMed:16705060 UniProtKB Difficult to capture developmental information. AAP 6/26/2013 87 3300008665 Faith Q96AD5 57104 PNPLA2 Homo sapiens 9606 Comment/developmental stage Induced during differentiation of primary preadipocytes to adipocytes. Expression increased from fetal to adult in retinal pigment epithelium. pigmented layer of retina UBERON:0001782 fetus BTO:0000449 Y Y ECO:0000006 PubMed:17032652 PubMed:16249444 PubMed:16705060 UniProtKB Difficult to capture developmental information. AAP 6/26/2013 87 3300008666 Faith Q96AD5 57104 PNPLA2 Homo sapiens 9606 Comment/miscellaneous Genetic variations in PNPLA2 may be associated with plasma free fatty acids, triglycerides levels, and fasting glucose concentrations. fatty acid CHEBI:35366 Y Y UniProtKB Actual term would be 'plasma free fatty acids', but no ontology term found.#ORIGINAL data type: Comment/polymorphism AAP 6/26/2013 87 3300008668 Faith Q96AD5 57104 PNPLA2 Homo sapiens 9606 Comment/miscellaneous Genetic variations in PNPLA2 may be associated with plasma free fatty acids, triglycerides levels, and fasting glucose concentrations. triglyceride CHEBI:17855 Y Y UniProtKB Actual term would be 'triglyceride levels', but no ontology term found.#ORIGINAL data type: Comment/polymorphism AAP 6/26/2013 87 3300008670 Faith Q96AD5 57104 PNPLA2 Homo sapiens 9606 Comment/miscellaneous Genetic variations in PNPLA2 may be associated with plasma free fatty acids, triglycerides levels, and fasting glucose concentrations. glucose CHEBI:17234 Y Y UniProtKB Actual term would be 'fasting glucose concentrations' but no ontology term found.#ORIGINAL data type: Comment/polymorphism AAP 6/26/2013 87 3300008672 Faith Q96AD5 57104 PNPLA2 Homo sapiens 9606 Comment/Involvement in disease Note=Genetic variations in PNPLA2 may be associated with risk of diabetes mellitus type 2. type 2 diabetes mellitus DOID:9352 Genetic variations in PNPLA2 may be associated with risk of diabetes mellitus type 2. Y Y UniProtKB AAP 6/26/2013 87 3300008673 Faith Q96AD5 57104 PNPLA2 Homo sapiens 9606 Comment/Involvement in disease Neutral lipid storage disease with myopathy (NLSDM) [MIM:610717]: Neutral lipid storage disorder (NLSD) with myopathy but without ichthyosis. NLSDs are characterized by the presence of triglyceride-containing cytoplasmic droplets in leukocytes and in other tissues, including bone marrow, skin, and muscle. Individuals with NLSDM did not show obesity, in spite of a defect in triglyceride degradation in fibroblasts and in marked triglyceride storage in liver, muscles, and other visceral cells. Note=The disease is caused by mutations affecting the gene represented in this entry. MIM:610717 neutral lipid storage disease DOID:0050729 The disease is caused by mutations affecting the gene represented in this entry. Y Y ECO:0000006 PubMed:17187067 UniProtKB AAP 6/26/2013 87 3300008674 Faith Q13258 5729 PTGDR Homo sapiens 9606 Comment/tissue specificity Expressed in retinal choroid, ciliary epithelium, longitudinal and circular ciliary muscles, iris, small intestine and platelet membranes. blood platelet BTO:0000132 platelet CL:0000233 Y Y ECO:0000006 PubMed:6302737 PubMed:11082108 UniProtKB could not find platelet membrane AAP 1/9/2013 116 3300008676 Faith Q13258 5729 PTGDR Homo sapiens 9606 Comment/Involvement in disease Asthma-related traits 1 (ASRT1) [MIM:607277]: Asthma-related traits include clinical symptoms of asthma, such as coughing, wheezing, dyspnea, bronchial hyperresponsiveness as assessed by methacholine challenge test, serum IgE levels, atopy and atopic dermatitis. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. MIM:607277 asthma DOID:2841 Disease susceptibility is associated with variations affecting the gene represented in this entry. Y Y ECO:0000006 PubMed:15496624 UniProtKB SNOMED has various types of asthma and has the qualifier 'susceptible' AAP 5/1/2013 119 3300008678 Faith Q13258 5729 PTGDR Homo sapiens 9606 Comment/Involvement in disease Asthma-related traits 1 (ASRT1) [MIM:607277]: Asthma-related traits include clinical symptoms of asthma, such as coughing, wheezing, dyspnea, bronchial hyperresponsiveness as assessed by methacholine challenge test, serum IgE levels, atopy and atopic dermatitis. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. MIM:607277 Asthma SNOMEDCT:195967001 Disease susceptibility is associated with variations affecting the gene represented in this entry. Y Y ECO:0000006 PubMed:15496624 UniProtKB SNOMED has various types of asthma and has the qualifier 'susceptible' AAP 5/1/2013 119 3300008679 Faith/Rose Q13258 5729 PTGDR Homo sapiens 9606 Comment/tissue specificity Expressed in retinal choroid, ciliary epithelium, longitudinal and circular ciliary muscles, iris, small intestine and platelet membranes. ciliary muscle BTO:0000654 Longitudinal fiber of ciliary muscle SNOMEDCT:280863004 Y Y ECO:0000006 PubMed:6302737 PubMed:11082108 UniProtKB I find ciliary muscle, but not longitudinal. Does exist in SNOMED; ; Non-disease term from SNOMED AAP 1/9/2013 116 3300008681 Faith/Rose Q13258 5729 PTGDR Homo sapiens 9606 Comment/tissue specificity Expressed in retinal choroid, ciliary epithelium, longitudinal and circular ciliary muscles, iris, small intestine and platelet membranes. ciliary muscle UBERON:0001605 Longitudinal fiber of ciliary muscle SNOMEDCT:280863004 Y Y ECO:0000006 PubMed:6302737 PubMed:11082108 UniProtKB I find ciliary muscle, but not longitudinal. Does exist in SNOMED; ; Non-disease term from SNOMED AAP 1/9/2013 116 3300008682 Faith/Rose Q13258 5729 PTGDR Homo sapiens 9606 Comment/tissue specificity Expressed in retinal choroid, ciliary epithelium, longitudinal and circular ciliary muscles, iris, small intestine and platelet membranes. ciliary muscle BTO:0000654 Entire circular fibers of ciliary muscle SNOMEDCT:280866007 Y Y ECO:0000006 PubMed:6302737 PubMed:11082108 UniProtKB circular not captured by Uberon or BRENDA; Non-disease term from SNOMED AAP 1/9/2013 116 3300008683 Faith/Rose Q13258 5729 PTGDR Homo sapiens 9606 Comment/tissue specificity Expressed in retinal choroid, ciliary epithelium, longitudinal and circular ciliary muscles, iris, small intestine and platelet membranes. ciliary muscle UBERON:0001605 Entire circular fibers of ciliary muscle SNOMEDCT:280866007 Y Y ECO:0000006 PubMed:6302737 PubMed:11082108 UniProtKB circular not captured by Uberon or BRENDA; Non-disease term from SNOMED AAP 1/9/2013 116 3300008684 Faith Q13258 5729 PTGDR Homo sapiens 9606 Comment/tissue specificity Expressed in retinal choroid, ciliary epithelium, longitudinal and circular ciliary muscles, iris, small intestine and platelet membranes. choroid BTO:0001829 Y Y ECO:0000006 PubMed:6302737 PubMed:11082108 UniProtKB AAP 1/9/2013 116 3300008685 Faith Q13258 5729 PTGDR Homo sapiens 9606 Comment/tissue specificity Expressed in retinal choroid, ciliary epithelium, longitudinal and circular ciliary muscles, iris, small intestine and platelet membranes. optic choroid UBERON:0001776 Y Y ECO:0000006 PubMed:6302737 PubMed:11082108 UniProtKB AAP 1/9/2013 116 3300008686 Faith Q13258 5729 PTGDR Homo sapiens 9606 Comment/tissue specificity Expressed in retinal choroid, ciliary epithelium, longitudinal and circular ciliary muscles, iris, small intestine and platelet membranes. ciliary epithelium BTO:0001770 Y Y ECO:0000006 PubMed:6302737 PubMed:11082108 UniProtKB AAP 1/9/2013 116 3300008687 Faith Q13258 5729 PTGDR Homo sapiens 9606 Comment/tissue specificity Expressed in retinal choroid, ciliary epithelium, longitudinal and circular ciliary muscles, iris, small intestine and platelet membranes. ciliary epithelium UBERON:0001778 Y Y ECO:0000006 PubMed:6302737 PubMed:11082108 UniProtKB AAP 1/9/2013 116 3300008688 Faith Q13258 5729 PTGDR Homo sapiens 9606 Comment/tissue specificity Expressed in retinal choroid, ciliary epithelium, longitudinal and circular ciliary muscles, iris, small intestine and platelet membranes. iris BTO:0000653 Y Y ECO:0000006 PubMed:6302737 PubMed:11082108 UniProtKB AAP 1/9/2013 116 3300008689 Faith Q13258 5729 PTGDR Homo sapiens 9606 Comment/tissue specificity Expressed in retinal choroid, ciliary epithelium, longitudinal and circular ciliary muscles, iris, small intestine and platelet membranes. iris UBERON:0001769 Y Y ECO:0000006 PubMed:6302737 PubMed:11082108 UniProtKB AAP 1/9/2013 116 3300008690 Faith Q13258 5729 PTGDR Homo sapiens 9606 Comment/tissue specificity Expressed in retinal choroid, ciliary epithelium, longitudinal and circular ciliary muscles, iris, small intestine and platelet membranes. small intestine BTO:0000651 Y Y ECO:0000006 PubMed:6302737 PubMed:11082108 UniProtKB AAP 1/9/2013 116 3300008691 Faith Q13258 5729 PTGDR Homo sapiens 9606 Comment/tissue specificity Expressed in retinal choroid, ciliary epithelium, longitudinal and circular ciliary muscles, iris, small intestine and platelet membranes. small intestine UBERON:0002108 Y Y ECO:0000006 PubMed:6302737 PubMed:11082108 UniProtKB AAP 1/9/2013 116 3300008692 Katie Q9Y5Y4 11251 PTGDR2 Homo sapiens 9606 Comment/tissue specificity Widespread expression. High expression in stomach, small intestine, heart and thymus. Intermediate expression in colon, spinal cord and peripheral blood and low expression in brain, skeletal muscle and spleen. Expressed also on Th2- and Tc2- type cells, eosinophils and basophils. basophil BTO:0000129 Y Y ECO:0000006 PubMed:11208866 PubMed:9973380 PubMed:11168006 PubMed:12466225 UniProtKB No Uberon term AAP 1/9/2013 102 3300008697 Katie Q9Y5Y4 11251 PTGDR2 Homo sapiens 9606 Comment/tissue specificity Widespread expression. High expression in stomach, small intestine, heart and thymus. Intermediate expression in colon, spinal cord and peripheral blood and low expression in brain, skeletal muscle and spleen. Expressed also on Th2- and Tc2- type cells, eosinophils and basophils. TC2 cell BTO:0004794 Y Y ECO:0000006 PubMed:11208866 PubMed:9973380 PubMed:11168006 PubMed:12466225 UniProtKB No Uberon term AAP 1/9/2013 102 3300008698 Katie Q9Y5Y4 11251 PTGDR2 Homo sapiens 9606 Comment/tissue specificity Widespread expression. High expression in stomach, small intestine, heart and thymus. Intermediate expression in colon, spinal cord and peripheral blood and low expression in brain, skeletal muscle and spleen. Expressed also on Th2- and Tc2- type cells, eosinophils and basophils. Th2-cell BTO:0001679 Y Y ECO:0000006 PubMed:11208866 PubMed:9973380 PubMed:11168006 PubMed:12466225 UniProtKB No Uberon term AAP 1/9/2013 102 3300008699 Katie/Rose Q9Y5Y4 11251 PTGDR2 Homo sapiens 9606 Comment/tissue specificity Widespread expression. High expression in stomach, small intestine, heart and thymus. Intermediate expression in colon, spinal cord and peripheral blood and low expression in brain, skeletal muscle and spleen. Expressed also on Th2- and Tc2- type cells, eosinophils and basophils. peripheral blood BTO:0000553 Y Y ECO:0000006 PubMed:11208866 PubMed:9973380 PubMed:11168006 PubMed:12466225 UniProtKB Uberon term more general AAP 1/9/2013 102 3300008700 Katie/Rose Q9Y5Y4 11251 PTGDR2 Homo sapiens 9606 Comment/tissue specificity Widespread expression. High expression in stomach, small intestine, heart and thymus. Intermediate expression in colon, spinal cord and peripheral blood and low expression in brain, skeletal muscle and spleen. Expressed also on Th2- and Tc2- type cells, eosinophils and basophils. blood UBERON:0000178 Y Y ECO:0000006 PubMed:11208866 PubMed:9973380 PubMed:11168006 PubMed:12466225 UniProtKB Uberon term more general AAP 1/9/2013 102 3300008701 Katie Q9Y5Y4 11251 PTGDR2 Homo sapiens 9606 Comment/tissue specificity Widespread expression. High expression in stomach, small intestine, heart and thymus. Intermediate expression in colon, spinal cord and peripheral blood and low expression in brain, skeletal muscle and spleen. Expressed also on Th2- and Tc2- type cells, eosinophils and basophils. brain BTO:0000142 Y Y ECO:0000006 PubMed:11208866 PubMed:9973380 PubMed:11168006 PubMed:12466225 UniProtKB AAP 1/9/2013 102 3300008703 Katie/Faith Q9Y5Y4 11251 PTGDR2 Homo sapiens 9606 Comment/tissue specificity Widespread expression. High expression in stomach, small intestine, heart and thymus. Intermediate expression in colon, spinal cord and peripheral blood and low expression in brain, skeletal muscle and spleen. Expressed also on Th2- and Tc2- type cells, eosinophils and basophils. brain UBERON:0000955 Y Y ECO:0000006 PubMed:11208866 PubMed:9973380 PubMed:11168006 PubMed:12466225 UniProtKB AAP 1/9/2013 102 3300008704 Katie Q9Y5Y4 11251 PTGDR2 Homo sapiens 9606 Comment/tissue specificity Widespread expression. High expression in stomach, small intestine, heart and thymus. Intermediate expression in colon, spinal cord and peripheral blood and low expression in brain, skeletal muscle and spleen. Expressed also on Th2- and Tc2- type cells, eosinophils and basophils. colon BTO:0000269 Y Y ECO:0000006 PubMed:11208866 PubMed:9973380 PubMed:11168006 PubMed:12466225 UniProtKB AAP 1/9/2013 102 3300008705 Katie Q9Y5Y4 11251 PTGDR2 Homo sapiens 9606 Comment/tissue specificity Widespread expression. High expression in stomach, small intestine, heart and thymus. Intermediate expression in colon, spinal cord and peripheral blood and low expression in brain, skeletal muscle and spleen. Expressed also on Th2- and Tc2- type cells, eosinophils and basophils. colon UBERON:0001155 Y Y ECO:0000006 PubMed:11208866 PubMed:9973380 PubMed:11168006 PubMed:12466225 UniProtKB AAP 1/9/2013 102 3300008706 Katie Q9Y5Y4 11251 PTGDR2 Homo sapiens 9606 Comment/tissue specificity Widespread expression. High expression in stomach, small intestine, heart and thymus. Intermediate expression in colon, spinal cord and peripheral blood and low expression in brain, skeletal muscle and spleen. Expressed also on Th2- and Tc2- type cells, eosinophils and basophils. heart BTO:0000562 Y Y ECO:0000006 PubMed:11208866 PubMed:9973380 PubMed:11168006 PubMed:12466225 UniProtKB AAP 1/9/2013 102 3300008707 Katie Q9Y5Y4 11251 PTGDR2 Homo sapiens 9606 Comment/tissue specificity Widespread expression. High expression in stomach, small intestine, heart and thymus. Intermediate expression in colon, spinal cord and peripheral blood and low expression in brain, skeletal muscle and spleen. Expressed also on Th2- and Tc2- type cells, eosinophils and basophils. heart UBERON:0000948 Y Y ECO:0000006 PubMed:11208866 PubMed:9973380 PubMed:11168006 PubMed:12466225 UniProtKB AAP 1/9/2013 102 3300008708 Katie Q9Y5Y4 11251 PTGDR2 Homo sapiens 9606 Comment/tissue specificity Widespread expression. High expression in stomach, small intestine, heart and thymus. Intermediate expression in colon, spinal cord and peripheral blood and low expression in brain, skeletal muscle and spleen. Expressed also on Th2- and Tc2- type cells, eosinophils and basophils. skeletal muscle BTO:0001103 Y Y ECO:0000006 PubMed:11208866 PubMed:9973380 PubMed:11168006 PubMed:12466225 UniProtKB AAP 1/9/2013 102 3300008709 Katie Q9Y5Y4 11251 PTGDR2 Homo sapiens 9606 Comment/tissue specificity Widespread expression. High expression in stomach, small intestine, heart and thymus. Intermediate expression in colon, spinal cord and peripheral blood and low expression in brain, skeletal muscle and spleen. Expressed also on Th2- and Tc2- type cells, eosinophils and basophils. skeletal muscle tissue UBERON:0001134 Y Y ECO:0000006 PubMed:11208866 PubMed:9973380 PubMed:11168006 PubMed:12466225 UniProtKB AAP 1/9/2013 102 3300008710 Katie Q9Y5Y4 11251 PTGDR2 Homo sapiens 9606 Comment/tissue specificity Widespread expression. High expression in stomach, small intestine, heart and thymus. Intermediate expression in colon, spinal cord and peripheral blood and low expression in brain, skeletal muscle and spleen. Expressed also on Th2- and Tc2- type cells, eosinophils and basophils. small intestine BTO:0000651 Y Y ECO:0000006 PubMed:11208866 PubMed:9973380 PubMed:11168006 PubMed:12466225 UniProtKB AAP 1/9/2013 102 3300008711 Katie Q9Y5Y4 11251 PTGDR2 Homo sapiens 9606 Comment/tissue specificity Widespread expression. High expression in stomach, small intestine, heart and thymus. Intermediate expression in colon, spinal cord and peripheral blood and low expression in brain, skeletal muscle and spleen. Expressed also on Th2- and Tc2- type cells, eosinophils and basophils. small intestine UBERON:0002108 Y Y ECO:0000006 PubMed:11208866 PubMed:9973380 PubMed:11168006 PubMed:12466225 UniProtKB AAP 1/9/2013 102 3300008712 Katie Q9Y5Y4 11251 PTGDR2 Homo sapiens 9606 Comment/tissue specificity Widespread expression. High expression in stomach, small intestine, heart and thymus. Intermediate expression in colon, spinal cord and peripheral blood and low expression in brain, skeletal muscle and spleen. Expressed also on Th2- and Tc2- type cells, eosinophils and basophils. spinal cord BTO:0001279 Y Y ECO:0000006 PubMed:11208866 PubMed:9973380 PubMed:11168006 PubMed:12466225 UniProtKB AAP 1/9/2013 102 3300008713 Katie Q9Y5Y4 11251 PTGDR2 Homo sapiens 9606 Comment/tissue specificity Widespread expression. High expression in stomach, small intestine, heart and thymus. Intermediate expression in colon, spinal cord and peripheral blood and low expression in brain, skeletal muscle and spleen. Expressed also on Th2- and Tc2- type cells, eosinophils and basophils. spinal cord UBERON:0002240 Y Y ECO:0000006 PubMed:11208866 PubMed:9973380 PubMed:11168006 PubMed:12466225 UniProtKB AAP 1/9/2013 102 3300008714 Katie Q9Y5Y4 11251 PTGDR2 Homo sapiens 9606 Comment/tissue specificity Widespread expression. High expression in stomach, small intestine, heart and thymus. Intermediate expression in colon, spinal cord and peripheral blood and low expression in brain, skeletal muscle and spleen. Expressed also on Th2- and Tc2- type cells, eosinophils and basophils. spleen BTO:0001281 Y Y ECO:0000006 PubMed:11208866 PubMed:9973380 PubMed:11168006 PubMed:12466225 UniProtKB AAP 1/9/2013 102 3300008715 Katie Q9Y5Y4 11251 PTGDR2 Homo sapiens 9606 Comment/tissue specificity Widespread expression. High expression in stomach, small intestine, heart and thymus. Intermediate expression in colon, spinal cord and peripheral blood and low expression in brain, skeletal muscle and spleen. Expressed also on Th2- and Tc2- type cells, eosinophils and basophils. spleen UBERON:0002106 Y Y ECO:0000006 PubMed:11208866 PubMed:9973380 PubMed:11168006 PubMed:12466225 UniProtKB AAP 1/9/2013 102 3300008716 Katie Q9Y5Y4 11251 PTGDR2 Homo sapiens 9606 Comment/tissue specificity Widespread expression. High expression in stomach, small intestine, heart and thymus. Intermediate expression in colon, spinal cord and peripheral blood and low expression in brain, skeletal muscle and spleen. Expressed also on Th2- and Tc2- type cells, eosinophils and basophils. stomach BTO:0001307 Y Y ECO:0000006 PubMed:11208866 PubMed:9973380 PubMed:11168006 PubMed:12466225 UniProtKB AAP 1/9/2013 102 3300008717 Katie Q9Y5Y4 11251 PTGDR2 Homo sapiens 9606 Comment/tissue specificity Widespread expression. High expression in stomach, small intestine, heart and thymus. Intermediate expression in colon, spinal cord and peripheral blood and low expression in brain, skeletal muscle and spleen. Expressed also on Th2- and Tc2- type cells, eosinophils and basophils. stomach UBERON:0000945 Y Y ECO:0000006 PubMed:11208866 PubMed:9973380 PubMed:11168006 PubMed:12466225 UniProtKB AAP 1/9/2013 102 3300008718 Katie Q9Y5Y4 11251 PTGDR2 Homo sapiens 9606 Comment/tissue specificity Widespread expression. High expression in stomach, small intestine, heart and thymus. Intermediate expression in colon, spinal cord and peripheral blood and low expression in brain, skeletal muscle and spleen. Expressed also on Th2- and Tc2- type cells, eosinophils and basophils. thymus BTO:0001374 Y Y ECO:0000006 PubMed:11208866 PubMed:9973380 PubMed:11168006 PubMed:12466225 UniProtKB AAP 1/9/2013 102 3300008719 Katie Q9Y5Y4 11251 PTGDR2 Homo sapiens 9606 Comment/tissue specificity Widespread expression. High expression in stomach, small intestine, heart and thymus. Intermediate expression in colon, spinal cord and peripheral blood and low expression in brain, skeletal muscle and spleen. Expressed also on Th2- and Tc2- type cells, eosinophils and basophils. thymus UBERON:0002370 Y Y ECO:0000006 PubMed:11208866 PubMed:9973380 PubMed:11168006 PubMed:12466225 UniProtKB AAP 1/9/2013 102 3300008720 Rose P41222 5730 PTGDS Homo sapiens 9606 Comment/developmental stage Expression in the amniotic fluid increases dramatically during weeks 12 to 25 of pregnancy. Levels decrease slowly after 25 weeks. amniotic fluid BTO:0000068 Y Y ECO:0000006 PubMed:8674187 UniProtKB Can't really capture development info easily; Non-disease term from SNOMED AAP, DGA 2/6/2013 132 3300008721 Rose P41222 5730 PTGDS Homo sapiens 9606 Comment/developmental stage Expression in the amniotic fluid increases dramatically during weeks 12 to 25 of pregnancy. Levels decrease slowly after 25 weeks. amniotic fluid UBERON:0000173 Y Y ECO:0000006 PubMed:8674187 UniProtKB Can't really capture development info easily; Non-disease term from SNOMED AAP, DGA 2/6/2013 132 3300008722 Rose P41222 5730 PTGDS Homo sapiens 9606 Comment/miscellaneous It has been proposed that the urinary and serum levels may provide a sensitive indicator of renal damage in diabetes mellitus and hypertension. Elevated levels in the coronary circulation may also be associated with angina. Changes in charge and molecular weight microheterogeneity, due to modification of the N-linked oligosaccharides, may be associated with neurodegenerative disease and multiple sclerosis. Detected in meningioma but not in other brain tumors and may be considered a specific cell marker for meningioma. Expression levels in amniotic fluid are altered in abnormal pregnancies. Levels are lower in pregnancies with trisomic fetuses and fetuses with renal abnormalities. meningioma DOID:3565 Y Y ECO:0000311 UniProtKB AAP, DGA 2/6/2013 132 3300008725 Rose P41222 5730 PTGDS Homo sapiens 9606 Comment/miscellaneous It has been proposed that the urinary and serum levels may provide a sensitive indicator of renal damage in diabetes mellitus and hypertension. Elevated levels in the coronary circulation may also be associated with angina. Changes in charge and molecular weight microheterogeneity, due to modification of the N-linked oligosaccharides, may be associated with neurodegenerative disease and multiple sclerosis. Detected in meningioma but not in other brain tumors and may be considered a specific cell marker for meningioma. Expression levels in amniotic fluid are altered in abnormal pregnancies. Levels are lower in pregnancies with trisomic fetuses and fetuses with renal abnormalities. amniotic fluid BTO:0000068 Y Y ECO:0000311 UniProtKB AAP, DGA 2/6/2013 132 3300008726 Rose P41222 5730 PTGDS Homo sapiens 9606 Comment/miscellaneous It has been proposed that the urinary and serum levels may provide a sensitive indicator of renal damage in diabetes mellitus and hypertension. Elevated levels in the coronary circulation may also be associated with angina. Changes in charge and molecular weight microheterogeneity, due to modification of the N-linked oligosaccharides, may be associated with neurodegenerative disease and multiple sclerosis. Detected in meningioma but not in other brain tumors and may be considered a specific cell marker for meningioma. Expression levels in amniotic fluid are altered in abnormal pregnancies. Levels are lower in pregnancies with trisomic fetuses and fetuses with renal abnormalities. amniotic fluid UBERON:0000173 Y Y ECO:0000311 UniProtKB AAP, DGA 2/6/2013 132 3300008727 Rose P41222 5730 PTGDS Homo sapiens 9606 Comment/miscellaneous It has been proposed that the urinary and serum levels may provide a sensitive indicator of renal damage in diabetes mellitus and hypertension. Elevated levels in the coronary circulation may also be associated with angina. Changes in charge and molecular weight microheterogeneity, due to modification of the N-linked oligosaccharides, may be associated with neurodegenerative disease and multiple sclerosis. Detected in meningioma but not in other brain tumors and may be considered a specific cell marker for meningioma. Expression levels in amniotic fluid are altered in abnormal pregnancies. Levels are lower in pregnancies with trisomic fetuses and fetuses with renal abnormalities. urine BTO:0001419 Y Y ECO:0000311 UniProtKB AAP, DGA 2/6/2013 132 3300008728 Rose P41222 5730 PTGDS Homo sapiens 9606 Comment/miscellaneous It has been proposed that the urinary and serum levels may provide a sensitive indicator of renal damage in diabetes mellitus and hypertension. Elevated levels in the coronary circulation may also be associated with angina. Changes in charge and molecular weight microheterogeneity, due to modification of the N-linked oligosaccharides, may be associated with neurodegenerative disease and multiple sclerosis. Detected in meningioma but not in other brain tumors and may be considered a specific cell marker for meningioma. Expression levels in amniotic fluid are altered in abnormal pregnancies. Levels are lower in pregnancies with trisomic fetuses and fetuses with renal abnormalities. urine UBERON:0001088 Y Y ECO:0000311 UniProtKB AAP, DGA 2/6/2013 132 3300008729 Rose P41222 5730 PTGDS Homo sapiens 9606 Comment/subcellular location Golgi apparatus Golgi apparatus GO:0005794 SL-0132 Y Y ECO:0000311 UniProtKB AAP, DGA 2/6/2013 132 3300008731 Rose P41222 5730 PTGDS Homo sapiens 9606 Comment/subcellular location Nucleus membrane nuclear membrane GO:0031965 SL-0182 Y Y ECO:0000311 UniProtKB AAP, DGA 2/6/2013 132 3300008732 Rose P41222 5730 PTGDS Homo sapiens 9606 Comment/subcellular location Perinuclear region perinuclear region of cytoplasm GO:0048471 SL-0198 Y Y ECO:0000311 UniProtKB AAP, DGA 2/6/2013 132 3300008733 Rose P41222 5730 PTGDS Homo sapiens 9606 Comment/subcellular location Detected on rough endoplasmic reticulum of arachnoid and menigioma cells. Localized to the nuclear envelope, Golgi apparatus, secretory vesicles and spherical cytoplasmic structures in arachnoid trabecular cells, and to circular cytoplasmic structures in meningeal macrophages and perivascular microglial cells. In oligodendrocytes, localized to the rough endoplasmic reticulum and nuclear envelope. In retinal pigment epithelial cells, localized to distinct cytoplasmic domains including the perinuclear region. Also secreted. arachnoid mater BTO:0001636 Y Y ECO:0000311 UniProtKB Maybe meningothelial cell (cell type ontology) AAP, DGA 2/6/2013 132 3300008735 Rose P41222 5730 PTGDS Homo sapiens 9606 Comment/subcellular location Detected on rough endoplasmic reticulum of arachnoid and menigioma cells. Localized to the nuclear envelope, Golgi apparatus, secretory vesicles and spherical cytoplasmic structures in arachnoid trabecular cells, and to circular cytoplasmic structures in meningeal macrophages and perivascular microglial cells. In oligodendrocytes, localized to the rough endoplasmic reticulum and nuclear envelope. In retinal pigment epithelial cells, localized to distinct cytoplasmic domains including the perinuclear region. Also secreted. arachnoid mater UBERON:0002362 Y Y ECO:0000311 UniProtKB Maybe meningothelial cell (cell type ontology) AAP, DGA 2/6/2013 132 3300008736 Rose P41222 5730 PTGDS Homo sapiens 9606 Comment/tissue specificity Abundant in the brain and CNS, where it is expressed in tissues of the blood-brain barrier and secreted into the cerebro-spinal fluid. Abundantly expressed in the heart. In the male reproductive system, it is expressed in the testis, epididymis and prostate, and is secreted into the seminal fluid. Expressed in the eye and secreted into the aqueous humor. Lower levels detected in various tissue fluids such as serum, normal urine, ascitic fluid and tear fluid. Also found in a number of other organs including ovary, fimbriae of the fallopian tubes, kidney, leukocytes. leukocyte BTO:0000751 Y Y ECO:0000006 PubMed:9475419 PubMed:9065498 PubMed:7692978 PubMed:9844724 PubMed:8599604 PubMed:8761996 PubMed:9405674 PubMed:10462696 PubMed:11882588 UniProtKB No Uberon term AAP, DGA 2/6/2013 132 3300008738 Rose P41222 5730 PTGDS Homo sapiens 9606 Comment/tissue specificity Abundant in the brain and CNS, where it is expressed in tissues of the blood-brain barrier and secreted into the cerebro-spinal fluid. Abundantly expressed in the heart. In the male reproductive system, it is expressed in the testis, epididymis and prostate, and is secreted into the seminal fluid. Expressed in the eye and secreted into the aqueous humor. Lower levels detected in various tissue fluids such as serum, normal urine, ascitic fluid and tear fluid. Also found in a number of other organs including ovary, fimbriae of the fallopian tubes, kidney, leukocytes. anterior chamber of the eye BTO:0002084 Y Y ECO:0000006 PubMed:9475419 PubMed:9065498 PubMed:7692978 PubMed:9844724 PubMed:8599604 PubMed:8761996 PubMed:9405674 PubMed:10462696 PubMed:11882588 UniProtKB Uberon term is a better match. AAP, DGA 2/6/2013 132 3300008739 Rose P41222 5730 PTGDS Homo sapiens 9606 Comment/tissue specificity Abundant in the brain and CNS, where it is expressed in tissues of the blood-brain barrier and secreted into the cerebro-spinal fluid. Abundantly expressed in the heart. In the male reproductive system, it is expressed in the testis, epididymis and prostate, and is secreted into the seminal fluid. Expressed in the eye and secreted into the aqueous humor. Lower levels detected in various tissue fluids such as serum, normal urine, ascitic fluid and tear fluid. Also found in a number of other organs including ovary, fimbriae of the fallopian tubes, kidney, leukocytes. aqueous humor of eyeball UBERON:0001796 Y Y ECO:0000006 PubMed:9475419 PubMed:9065498 PubMed:7692978 PubMed:9844724 PubMed:8599604 PubMed:8761996 PubMed:9405674 PubMed:10462696 PubMed:11882588 UniProtKB Uberon term is a better match. AAP, DGA 2/6/2013 132 3300008740 Rose P41222 5730 PTGDS Homo sapiens 9606 Comment/tissue specificity Abundant in the brain and CNS, where it is expressed in tissues of the blood-brain barrier and secreted into the cerebro-spinal fluid. Abundantly expressed in the heart. In the male reproductive system, it is expressed in the testis, epididymis and prostate, and is secreted into the seminal fluid. Expressed in the eye and secreted into the aqueous humor. Lower levels detected in various tissue fluids such as serum, normal urine, ascitic fluid and tear fluid. Also found in a number of other organs including ovary, fimbriae of the fallopian tubes, kidney, leukocytes. arachnoid barrier layer BTO:0002498 Y Y ECO:0000006 PubMed:9475419 PubMed:9065498 PubMed:7692978 PubMed:9844724 PubMed:8599604 PubMed:8761996 PubMed:9405674 PubMed:10462696 PubMed:11882588 UniProtKB AAP, DGA 2/6/2013 132 3300008741 Rose P41222 5730 PTGDS Homo sapiens 9606 Comment/tissue specificity Abundant in the brain and CNS, where it is expressed in tissues of the blood-brain barrier and secreted into the cerebro-spinal fluid. Abundantly expressed in the heart. In the male reproductive system, it is expressed in the testis, epididymis and prostate, and is secreted into the seminal fluid. Expressed in the eye and secreted into the aqueous humor. Lower levels detected in various tissue fluids such as serum, normal urine, ascitic fluid and tear fluid. Also found in a number of other organs including ovary, fimbriae of the fallopian tubes, kidney, leukocytes. blood brain barrier UBERON:0000120 Y Y ECO:0000006 PubMed:9475419 PubMed:9065498 PubMed:7692978 PubMed:9844724 PubMed:8599604 PubMed:8761996 PubMed:9405674 PubMed:10462696 PubMed:11882588 UniProtKB AAP, DGA 2/6/2013 132 3300008742 Rose/Faith P41222 5730 PTGDS Homo sapiens 9606 Comment/tissue specificity Abundant in the brain and CNS, where it is expressed in tissues of the blood-brain barrier and secreted into the cerebro-spinal fluid. Abundantly expressed in the heart. In the male reproductive system, it is expressed in the testis, epididymis and prostate, and is secreted into the seminal fluid. Expressed in the eye and secreted into the aqueous humor. Lower levels detected in various tissue fluids such as serum, normal urine, ascitic fluid and tear fluid. Also found in a number of other organs including ovary, fimbriae of the fallopian tubes, kidney, leukocytes. ascites BTO:0000091 Y Y ECO:0000006 PubMed:9475419 PubMed:9065498 PubMed:7692978 PubMed:9844724 PubMed:8599604 PubMed:8761996 PubMed:9405674 PubMed:10462696 PubMed:11882588 UniProtKB AAP, DGA 2/6/2013 132 3300008743 Rose/Faith P41222 5730 PTGDS Homo sapiens 9606 Comment/tissue specificity Abundant in the brain and CNS, where it is expressed in tissues of the blood-brain barrier and secreted into the cerebro-spinal fluid. Abundantly expressed in the heart. In the male reproductive system, it is expressed in the testis, epididymis and prostate, and is secreted into the seminal fluid. Expressed in the eye and secreted into the aqueous humor. Lower levels detected in various tissue fluids such as serum, normal urine, ascitic fluid and tear fluid. Also found in a number of other organs including ovary, fimbriae of the fallopian tubes, kidney, leukocytes. ascitic fluid UBERON:0007795 Y Y ECO:0000006 PubMed:9475419 PubMed:9065498 PubMed:7692978 PubMed:9844724 PubMed:8599604 PubMed:8761996 PubMed:9405674 PubMed:10462696 PubMed:11882588 UniProtKB AAP, DGA 2/6/2013 132 3300008744 Rose P41222 5730 PTGDS Homo sapiens 9606 Comment/tissue specificity Abundant in the brain and CNS, where it is expressed in tissues of the blood-brain barrier and secreted into the cerebro-spinal fluid. Abundantly expressed in the heart. In the male reproductive system, it is expressed in the testis, epididymis and prostate, and is secreted into the seminal fluid. Expressed in the eye and secreted into the aqueous humor. Lower levels detected in various tissue fluids such as serum, normal urine, ascitic fluid and tear fluid. Also found in a number of other organs including ovary, fimbriae of the fallopian tubes, kidney, leukocytes. brain BTO:0000142 Y Y ECO:0000006 PubMed:9475419 PubMed:9065498 PubMed:7692978 PubMed:9844724 PubMed:8599604 PubMed:8761996 PubMed:9405674 PubMed:10462696 PubMed:11882588 UniProtKB AAP, DGA 2/6/2013 132 3300008745 Rose P41222 5730 PTGDS Homo sapiens 9606 Comment/tissue specificity Abundant in the brain and CNS, where it is expressed in tissues of the blood-brain barrier and secreted into the cerebro-spinal fluid. Abundantly expressed in the heart. In the male reproductive system, it is expressed in the testis, epididymis and prostate, and is secreted into the seminal fluid. Expressed in the eye and secreted into the aqueous humor. Lower levels detected in various tissue fluids such as serum, normal urine, ascitic fluid and tear fluid. Also found in a number of other organs including ovary, fimbriae of the fallopian tubes, kidney, leukocytes. brain UBERON:0000955 Y Y ECO:0000006 PubMed:9475419 PubMed:9065498 PubMed:7692978 PubMed:9844724 PubMed:8599604 PubMed:8761996 PubMed:9405674 PubMed:10462696 PubMed:11882588 UniProtKB AAP, DGA 2/6/2013 132 3300008746 Rose P41222 5730 PTGDS Homo sapiens 9606 Comment/tissue specificity Abundant in the brain and CNS, where it is expressed in tissues of the blood-brain barrier and secreted into the cerebro-spinal fluid. Abundantly expressed in the heart. In the male reproductive system, it is expressed in the testis, epididymis and prostate, and is secreted into the seminal fluid. Expressed in the eye and secreted into the aqueous humor. Lower levels detected in various tissue fluids such as serum, normal urine, ascitic fluid and tear fluid. Also found in a number of other organs including ovary, fimbriae of the fallopian tubes, kidney, leukocytes. central nervous system BTO:0000227 Y Y ECO:0000006 PubMed:9475419 PubMed:9065498 PubMed:7692978 PubMed:9844724 PubMed:8599604 PubMed:8761996 PubMed:9405674 PubMed:10462696 PubMed:11882588 UniProtKB AAP, DGA 2/6/2013 132 3300008747 Rose P41222 5730 PTGDS Homo sapiens 9606 Comment/tissue specificity Abundant in the brain and CNS, where it is expressed in tissues of the blood-brain barrier and secreted into the cerebro-spinal fluid. Abundantly expressed in the heart. In the male reproductive system, it is expressed in the testis, epididymis and prostate, and is secreted into the seminal fluid. Expressed in the eye and secreted into the aqueous humor. Lower levels detected in various tissue fluids such as serum, normal urine, ascitic fluid and tear fluid. Also found in a number of other organs including ovary, fimbriae of the fallopian tubes, kidney, leukocytes. central nervous system UBERON:0001017 Y Y ECO:0000006 PubMed:9475419 PubMed:9065498 PubMed:7692978 PubMed:9844724 PubMed:8599604 PubMed:8761996 PubMed:9405674 PubMed:10462696 PubMed:11882588 UniProtKB AAP, DGA 2/6/2013 132 3300008748 Rose P41222 5730 PTGDS Homo sapiens 9606 Comment/tissue specificity Abundant in the brain and CNS, where it is expressed in tissues of the blood-brain barrier and secreted into the cerebro-spinal fluid. Abundantly expressed in the heart. In the male reproductive system, it is expressed in the testis, epididymis and prostate, and is secreted into the seminal fluid. Expressed in the eye and secreted into the aqueous humor. Lower levels detected in various tissue fluids such as serum, normal urine, ascitic fluid and tear fluid. Also found in a number of other organs including ovary, fimbriae of the fallopian tubes, kidney, leukocytes. cerebrospinal fluid BTO:0000237 Y Y ECO:0000006 PubMed:9475419 PubMed:9065498 PubMed:7692978 PubMed:9844724 PubMed:8599604 PubMed:8761996 PubMed:9405674 PubMed:10462696 PubMed:11882588 UniProtKB AAP, DGA 2/6/2013 132 3300008749 Rose P41222 5730 PTGDS Homo sapiens 9606 Comment/tissue specificity Abundant in the brain and CNS, where it is expressed in tissues of the blood-brain barrier and secreted into the cerebro-spinal fluid. Abundantly expressed in the heart. In the male reproductive system, it is expressed in the testis, epididymis and prostate, and is secreted into the seminal fluid. Expressed in the eye and secreted into the aqueous humor. Lower levels detected in various tissue fluids such as serum, normal urine, ascitic fluid and tear fluid. Also found in a number of other organs including ovary, fimbriae of the fallopian tubes, kidney, leukocytes. cerebrospinal fluid UBERON:0001359 Y Y ECO:0000006 PubMed:9475419 PubMed:9065498 PubMed:7692978 PubMed:9844724 PubMed:8599604 PubMed:8761996 PubMed:9405674 PubMed:10462696 PubMed:11882588 UniProtKB AAP, DGA 2/6/2013 132 3300008750 Rose P41222 5730 PTGDS Homo sapiens 9606 Comment/tissue specificity Abundant in the brain and CNS, where it is expressed in tissues of the blood-brain barrier and secreted into the cerebro-spinal fluid. Abundantly expressed in the heart. In the male reproductive system, it is expressed in the testis, epididymis and prostate, and is secreted into the seminal fluid. Expressed in the eye and secreted into the aqueous humor. Lower levels detected in various tissue fluids such as serum, normal urine, ascitic fluid and tear fluid. Also found in a number of other organs including ovary, fimbriae of the fallopian tubes, kidney, leukocytes. epididymis BTO:0000408 Y Y ECO:0000006 PubMed:9475419 PubMed:9065498 PubMed:7692978 PubMed:9844724 PubMed:8599604 PubMed:8761996 PubMed:9405674 PubMed:10462696 PubMed:11882588 UniProtKB AAP, DGA 2/6/2013 132 3300008751 Rose P41222 5730 PTGDS Homo sapiens 9606 Comment/tissue specificity Abundant in the brain and CNS, where it is expressed in tissues of the blood-brain barrier and secreted into the cerebro-spinal fluid. Abundantly expressed in the heart. In the male reproductive system, it is expressed in the testis, epididymis and prostate, and is secreted into the seminal fluid. Expressed in the eye and secreted into the aqueous humor. Lower levels detected in various tissue fluids such as serum, normal urine, ascitic fluid and tear fluid. Also found in a number of other organs including ovary, fimbriae of the fallopian tubes, kidney, leukocytes. epididymis UBERON:0001301 Y Y ECO:0000006 PubMed:9475419 PubMed:9065498 PubMed:7692978 PubMed:9844724 PubMed:8599604 PubMed:8761996 PubMed:9405674 PubMed:10462696 PubMed:11882588 UniProtKB AAP, DGA 2/6/2013 132 3300008752 Rose P41222 5730 PTGDS Homo sapiens 9606 Comment/tissue specificity Abundant in the brain and CNS, where it is expressed in tissues of the blood-brain barrier and secreted into the cerebro-spinal fluid. Abundantly expressed in the heart. In the male reproductive system, it is expressed in the testis, epididymis and prostate, and is secreted into the seminal fluid. Expressed in the eye and secreted into the aqueous humor. Lower levels detected in various tissue fluids such as serum, normal urine, ascitic fluid and tear fluid. Also found in a number of other organs including ovary, fimbriae of the fallopian tubes, kidney, leukocytes. eye BTO:0000439 Y Y ECO:0000006 PubMed:9475419 PubMed:9065498 PubMed:7692978 PubMed:9844724 PubMed:8599604 PubMed:8761996 PubMed:9405674 PubMed:10462696 PubMed:11882588 UniProtKB AAP, DGA 2/6/2013 132 3300008753 Rose P41222 5730 PTGDS Homo sapiens 9606 Comment/tissue specificity Abundant in the brain and CNS, where it is expressed in tissues of the blood-brain barrier and secreted into the cerebro-spinal fluid. Abundantly expressed in the heart. In the male reproductive system, it is expressed in the testis, epididymis and prostate, and is secreted into the seminal fluid. Expressed in the eye and secreted into the aqueous humor. Lower levels detected in various tissue fluids such as serum, normal urine, ascitic fluid and tear fluid. Also found in a number of other organs including ovary, fimbriae of the fallopian tubes, kidney, leukocytes. eye UBERON:0000970 Y Y ECO:0000006 PubMed:9475419 PubMed:9065498 PubMed:7692978 PubMed:9844724 PubMed:8599604 PubMed:8761996 PubMed:9405674 PubMed:10462696 PubMed:11882588 UniProtKB AAP, DGA 2/6/2013 132 3300008754 Rose P41222 5730 PTGDS Homo sapiens 9606 Comment/tissue specificity Abundant in the brain and CNS, where it is expressed in tissues of the blood-brain barrier and secreted into the cerebro-spinal fluid. Abundantly expressed in the heart. In the male reproductive system, it is expressed in the testis, epididymis and prostate, and is secreted into the seminal fluid. Expressed in the eye and secreted into the aqueous humor. Lower levels detected in various tissue fluids such as serum, normal urine, ascitic fluid and tear fluid. Also found in a number of other organs including ovary, fimbriae of the fallopian tubes, kidney, leukocytes. heart BTO:0000562 Y Y ECO:0000006 PubMed:9475419 PubMed:9065498 PubMed:7692978 PubMed:9844724 PubMed:8599604 PubMed:8761996 PubMed:9405674 PubMed:10462696 PubMed:11882588 UniProtKB AAP, DGA 2/6/2013 132 3300008755 Rose P41222 5730 PTGDS Homo sapiens 9606 Comment/tissue specificity Abundant in the brain and CNS, where it is expressed in tissues of the blood-brain barrier and secreted into the cerebro-spinal fluid. Abundantly expressed in the heart. In the male reproductive system, it is expressed in the testis, epididymis and prostate, and is secreted into the seminal fluid. Expressed in the eye and secreted into the aqueous humor. Lower levels detected in various tissue fluids such as serum, normal urine, ascitic fluid and tear fluid. Also found in a number of other organs including ovary, fimbriae of the fallopian tubes, kidney, leukocytes. heart UBERON:0000948 Y Y ECO:0000006 PubMed:9475419 PubMed:9065498 PubMed:7692978 PubMed:9844724 PubMed:8599604 PubMed:8761996 PubMed:9405674 PubMed:10462696 PubMed:11882588 UniProtKB AAP, DGA 2/6/2013 132 3300008756 Rose P41222 5730 PTGDS Homo sapiens 9606 Comment/tissue specificity Abundant in the brain and CNS, where it is expressed in tissues of the blood-brain barrier and secreted into the cerebro-spinal fluid. Abundantly expressed in the heart. In the male reproductive system, it is expressed in the testis, epididymis and prostate, and is secreted into the seminal fluid. Expressed in the eye and secreted into the aqueous humor. Lower levels detected in various tissue fluids such as serum, normal urine, ascitic fluid and tear fluid. Also found in a number of other organs including ovary, fimbriae of the fallopian tubes, kidney, leukocytes. kidney BTO:0000671 Y Y ECO:0000006 PubMed:9475419 PubMed:9065498 PubMed:7692978 PubMed:9844724 PubMed:8599604 PubMed:8761996 PubMed:9405674 PubMed:10462696 PubMed:11882588 UniProtKB AAP, DGA 2/6/2013 132 3300008757 Rose P41222 5730 PTGDS Homo sapiens 9606 Comment/tissue specificity Abundant in the brain and CNS, where it is expressed in tissues of the blood-brain barrier and secreted into the cerebro-spinal fluid. Abundantly expressed in the heart. In the male reproductive system, it is expressed in the testis, epididymis and prostate, and is secreted into the seminal fluid. Expressed in the eye and secreted into the aqueous humor. Lower levels detected in various tissue fluids such as serum, normal urine, ascitic fluid and tear fluid. Also found in a number of other organs including ovary, fimbriae of the fallopian tubes, kidney, leukocytes. kidney UBERON:0002113 Y Y ECO:0000006 PubMed:9475419 PubMed:9065498 PubMed:7692978 PubMed:9844724 PubMed:8599604 PubMed:8761996 PubMed:9405674 PubMed:10462696 PubMed:11882588 UniProtKB AAP, DGA 2/6/2013 132 3300008758 Rose P41222 5730 PTGDS Homo sapiens 9606 Comment/tissue specificity Abundant in the brain and CNS, where it is expressed in tissues of the blood-brain barrier and secreted into the cerebro-spinal fluid. Abundantly expressed in the heart. In the male reproductive system, it is expressed in the testis, epididymis and prostate, and is secreted into the seminal fluid. Expressed in the eye and secreted into the aqueous humor. Lower levels detected in various tissue fluids such as serum, normal urine, ascitic fluid and tear fluid. Also found in a number of other organs including ovary, fimbriae of the fallopian tubes, kidney, leukocytes. ovary BTO:0000975 Y Y ECO:0000006 PubMed:9475419 PubMed:9065498 PubMed:7692978 PubMed:9844724 PubMed:8599604 PubMed:8761996 PubMed:9405674 PubMed:10462696 PubMed:11882588 UniProtKB AAP, DGA 2/6/2013 132 3300008759 Rose P41222 5730 PTGDS Homo sapiens 9606 Comment/tissue specificity Abundant in the brain and CNS, where it is expressed in tissues of the blood-brain barrier and secreted into the cerebro-spinal fluid. Abundantly expressed in the heart. In the male reproductive system, it is expressed in the testis, epididymis and prostate, and is secreted into the seminal fluid. Expressed in the eye and secreted into the aqueous humor. Lower levels detected in various tissue fluids such as serum, normal urine, ascitic fluid and tear fluid. Also found in a number of other organs including ovary, fimbriae of the fallopian tubes, kidney, leukocytes. female gonad UBERON:0000992 Y Y ECO:0000006 PubMed:9475419 PubMed:9065498 PubMed:7692978 PubMed:9844724 PubMed:8599604 PubMed:8761996 PubMed:9405674 PubMed:10462696 PubMed:11882588 UniProtKB AAP, DGA 2/6/2013 132 3300008760 Rose P41222 5730 PTGDS Homo sapiens 9606 Comment/tissue specificity Abundant in the brain and CNS, where it is expressed in tissues of the blood-brain barrier and secreted into the cerebro-spinal fluid. Abundantly expressed in the heart. In the male reproductive system, it is expressed in the testis, epididymis and prostate, and is secreted into the seminal fluid. Expressed in the eye and secreted into the aqueous humor. Lower levels detected in various tissue fluids such as serum, normal urine, ascitic fluid and tear fluid. Also found in a number of other organs including ovary, fimbriae of the fallopian tubes, kidney, leukocytes. oviduct BTO:0000980 Y Y ECO:0000006 PubMed:9475419 PubMed:9065498 PubMed:7692978 PubMed:9844724 PubMed:8599604 PubMed:8761996 PubMed:9405674 PubMed:10462696 PubMed:11882588 UniProtKB AAP, DGA 2/6/2013 132 3300008761 Rose P41222 5730 PTGDS Homo sapiens 9606 Comment/tissue specificity Abundant in the brain and CNS, where it is expressed in tissues of the blood-brain barrier and secreted into the cerebro-spinal fluid. Abundantly expressed in the heart. In the male reproductive system, it is expressed in the testis, epididymis and prostate, and is secreted into the seminal fluid. Expressed in the eye and secreted into the aqueous humor. Lower levels detected in various tissue fluids such as serum, normal urine, ascitic fluid and tear fluid. Also found in a number of other organs including ovary, fimbriae of the fallopian tubes, kidney, leukocytes. fallopian tube UBERON:0003889 Y Y ECO:0000006 PubMed:9475419 PubMed:9065498 PubMed:7692978 PubMed:9844724 PubMed:8599604 PubMed:8761996 PubMed:9405674 PubMed:10462696 PubMed:11882588 UniProtKB AAP, DGA 2/6/2013 132 3300008762 Rose P41222 5730 PTGDS Homo sapiens 9606 Comment/tissue specificity Abundant in the brain and CNS, where it is expressed in tissues of the blood-brain barrier and secreted into the cerebro-spinal fluid. Abundantly expressed in the heart. In the male reproductive system, it is expressed in the testis, epididymis and prostate, and is secreted into the seminal fluid. Expressed in the eye and secreted into the aqueous humor. Lower levels detected in various tissue fluids such as serum, normal urine, ascitic fluid and tear fluid. Also found in a number of other organs including ovary, fimbriae of the fallopian tubes, kidney, leukocytes. prostate gland BTO:0001129 Y Y ECO:0000006 PubMed:9475419 PubMed:9065498 PubMed:7692978 PubMed:9844724 PubMed:8599604 PubMed:8761996 PubMed:9405674 PubMed:10462696 PubMed:11882588 UniProtKB AAP, DGA 2/6/2013 132 3300008763 Rose P41222 5730 PTGDS Homo sapiens 9606 Comment/tissue specificity Abundant in the brain and CNS, where it is expressed in tissues of the blood-brain barrier and secreted into the cerebro-spinal fluid. Abundantly expressed in the heart. In the male reproductive system, it is expressed in the testis, epididymis and prostate, and is secreted into the seminal fluid. Expressed in the eye and secreted into the aqueous humor. Lower levels detected in various tissue fluids such as serum, normal urine, ascitic fluid and tear fluid. Also found in a number of other organs including ovary, fimbriae of the fallopian tubes, kidney, leukocytes. prostate gland UBERON:0002367 Y Y ECO:0000006 PubMed:9475419 PubMed:9065498 PubMed:7692978 PubMed:9844724 PubMed:8599604 PubMed:8761996 PubMed:9405674 PubMed:10462696 PubMed:11882588 UniProtKB AAP, DGA 2/6/2013 132 3300008764 Rose P41222 5730 PTGDS Homo sapiens 9606 Comment/tissue specificity Abundant in the brain and CNS, where it is expressed in tissues of the blood-brain barrier and secreted into the cerebro-spinal fluid. Abundantly expressed in the heart. In the male reproductive system, it is expressed in the testis, epididymis and prostate, and is secreted into the seminal fluid. Expressed in the eye and secreted into the aqueous humor. Lower levels detected in various tissue fluids such as serum, normal urine, ascitic fluid and tear fluid. Also found in a number of other organs including ovary, fimbriae of the fallopian tubes, kidney, leukocytes. seminal vesicle fluid BTO:0002053 Y Y ECO:0000006 PubMed:9475419 PubMed:9065498 PubMed:7692978 PubMed:9844724 PubMed:8599604 PubMed:8761996 PubMed:9405674 PubMed:10462696 PubMed:11882588 UniProtKB AAP, DGA 2/6/2013 132 3300008765 Rose P41222 5730 PTGDS Homo sapiens 9606 Comment/tissue specificity Abundant in the brain and CNS, where it is expressed in tissues of the blood-brain barrier and secreted into the cerebro-spinal fluid. Abundantly expressed in the heart. In the male reproductive system, it is expressed in the testis, epididymis and prostate, and is secreted into the seminal fluid. Expressed in the eye and secreted into the aqueous humor. Lower levels detected in various tissue fluids such as serum, normal urine, ascitic fluid and tear fluid. Also found in a number of other organs including ovary, fimbriae of the fallopian tubes, kidney, leukocytes. seminal fluid UBERON:0006530 Y Y ECO:0000006 PubMed:9475419 PubMed:9065498 PubMed:7692978 PubMed:9844724 PubMed:8599604 PubMed:8761996 PubMed:9405674 PubMed:10462696 PubMed:11882588 UniProtKB AAP, DGA 2/6/2013 132 3300008766 Rose/Faith P41222 5730 PTGDS Homo sapiens 9606 Comment/tissue specificity Abundant in the brain and CNS, where it is expressed in tissues of the blood-brain barrier and secreted into the cerebro-spinal fluid. Abundantly expressed in the heart. In the male reproductive system, it is expressed in the testis, epididymis and prostate, and is secreted into the seminal fluid. Expressed in the eye and secreted into the aqueous humor. Lower levels detected in various tissue fluids such as serum, normal urine, ascitic fluid and tear fluid. Also found in a number of other organs including ovary, fimbriae of the fallopian tubes, kidney, leukocytes. serum BTO:0001239 Y Y ECO:0000006 PubMed:9475419 PubMed:9065498 PubMed:7692978 PubMed:9844724 PubMed:8599604 PubMed:8761996 PubMed:9405674 PubMed:10462696 PubMed:11882588 UniProtKB AAP, DGA 2/6/2013 132 3300008767 Rose/Faith P41222 5730 PTGDS Homo sapiens 9606 Comment/tissue specificity Abundant in the brain and CNS, where it is expressed in tissues of the blood-brain barrier and secreted into the cerebro-spinal fluid. Abundantly expressed in the heart. In the male reproductive system, it is expressed in the testis, epididymis and prostate, and is secreted into the seminal fluid. Expressed in the eye and secreted into the aqueous humor. Lower levels detected in various tissue fluids such as serum, normal urine, ascitic fluid and tear fluid. Also found in a number of other organs including ovary, fimbriae of the fallopian tubes, kidney, leukocytes. serum UBERON:0001977 Y Y ECO:0000006 PubMed:9475419 PubMed:9065498 PubMed:7692978 PubMed:9844724 PubMed:8599604 PubMed:8761996 PubMed:9405674 PubMed:10462696 PubMed:11882588 UniProtKB AAP, DGA 2/6/2013 132 3300008768 Rose/Faith P41222 5730 PTGDS Homo sapiens 9606 Comment/tissue specificity Abundant in the brain and CNS, where it is expressed in tissues of the blood-brain barrier and secreted into the cerebro-spinal fluid. Abundantly expressed in the heart. In the male reproductive system, it is expressed in the testis, epididymis and prostate, and is secreted into the seminal fluid. Expressed in the eye and secreted into the aqueous humor. Lower levels detected in various tissue fluids such as serum, normal urine, ascitic fluid and tear fluid. Also found in a number of other organs including ovary, fimbriae of the fallopian tubes, kidney, leukocytes. tear BTO:0001499 Y Y ECO:0000006 PubMed:9475419 PubMed:9065498 PubMed:7692978 PubMed:9844724 PubMed:8599604 PubMed:8761996 PubMed:9405674 PubMed:10462696 PubMed:11882588 UniProtKB AAP, DGA 2/6/2013 132 3300008769 Rose/Faith P41222 5730 PTGDS Homo sapiens 9606 Comment/tissue specificity Abundant in the brain and CNS, where it is expressed in tissues of the blood-brain barrier and secreted into the cerebro-spinal fluid. Abundantly expressed in the heart. In the male reproductive system, it is expressed in the testis, epididymis and prostate, and is secreted into the seminal fluid. Expressed in the eye and secreted into the aqueous humor. Lower levels detected in various tissue fluids such as serum, normal urine, ascitic fluid and tear fluid. Also found in a number of other organs including ovary, fimbriae of the fallopian tubes, kidney, leukocytes. lacrimal gland secretion UBERON:0001827 Y Y ECO:0000006 PubMed:9475419 PubMed:9065498 PubMed:7692978 PubMed:9844724 PubMed:8599604 PubMed:8761996 PubMed:9405674 PubMed:10462696 PubMed:11882588 UniProtKB AAP, DGA 2/6/2013 132 3300008770 Rose P41222 5730 PTGDS Homo sapiens 9606 Comment/tissue specificity Abundant in the brain and CNS, where it is expressed in tissues of the blood-brain barrier and secreted into the cerebro-spinal fluid. Abundantly expressed in the heart. In the male reproductive system, it is expressed in the testis, epididymis and prostate, and is secreted into the seminal fluid. Expressed in the eye and secreted into the aqueous humor. Lower levels detected in various tissue fluids such as serum, normal urine, ascitic fluid and tear fluid. Also found in a number of other organs including ovary, fimbriae of the fallopian tubes, kidney, leukocytes. testis BTO:0001363 Y Y ECO:0000006 PubMed:9475419 PubMed:9065498 PubMed:7692978 PubMed:9844724 PubMed:8599604 PubMed:8761996 PubMed:9405674 PubMed:10462696 PubMed:11882588 UniProtKB AAP, DGA 2/6/2013 132 3300008771 Rose P41222 5730 PTGDS Homo sapiens 9606 Comment/tissue specificity Abundant in the brain and CNS, where it is expressed in tissues of the blood-brain barrier and secreted into the cerebro-spinal fluid. Abundantly expressed in the heart. In the male reproductive system, it is expressed in the testis, epididymis and prostate, and is secreted into the seminal fluid. Expressed in the eye and secreted into the aqueous humor. Lower levels detected in various tissue fluids such as serum, normal urine, ascitic fluid and tear fluid. Also found in a number of other organs including ovary, fimbriae of the fallopian tubes, kidney, leukocytes. testis UBERON:0000473 Y Y ECO:0000006 PubMed:9475419 PubMed:9065498 PubMed:7692978 PubMed:9844724 PubMed:8599604 PubMed:8761996 PubMed:9405674 PubMed:10462696 PubMed:11882588 UniProtKB AAP, DGA 2/6/2013 132 3300008772 Rose/Faith P41222 5730 PTGDS Homo sapiens 9606 Comment/tissue specificity Abundant in the brain and CNS, where it is expressed in tissues of the blood-brain barrier and secreted into the cerebro-spinal fluid. Abundantly expressed in the heart. In the male reproductive system, it is expressed in the testis, epididymis and prostate, and is secreted into the seminal fluid. Expressed in the eye and secreted into the aqueous humor. Lower levels detected in various tissue fluids such as serum, normal urine, ascitic fluid and tear fluid. Also found in a number of other organs including ovary, fimbriae of the fallopian tubes, kidney, leukocytes. urine BTO:0001419 Y Y ECO:0000006 PubMed:9475419 PubMed:9065498 PubMed:7692978 PubMed:9844724 PubMed:8599604 PubMed:8761996 PubMed:9405674 PubMed:10462696 PubMed:11882588 UniProtKB AAP, DGA 2/6/2013 132 3300008773 Rose P41222 5730 PTGDS Homo sapiens 9606 Comment/tissue specificity Abundant in the brain and CNS, where it is expressed in tissues of the blood-brain barrier and secreted into the cerebro-spinal fluid. Abundantly expressed in the heart. In the male reproductive system, it is expressed in the testis, epididymis and prostate, and is secreted into the seminal fluid. Expressed in the eye and secreted into the aqueous humor. Lower levels detected in various tissue fluids such as serum, normal urine, ascitic fluid and tear fluid. Also found in a number of other organs including ovary, fimbriae of the fallopian tubes, kidney, leukocytes. urine UBERON:0001088 Y Y ECO:0000006 PubMed:9475419 PubMed:9065498 PubMed:7692978 PubMed:9844724 PubMed:8599604 PubMed:8761996 PubMed:9405674 PubMed:10462696 PubMed:11882588 UniProtKB AAP, DGA 2/6/2013 132 3300008774 Rose P41222 5730 PTGDS Homo sapiens 9606 EC 5.3.99.2 Y Y ECO:0000311 EC number UniProtKB AAP, DGA 2/6/2013 132 3300008775 Rose P34995 5731 PTGER1 Homo sapiens 9606 Comment/function Receptor for prostaglandin E2 (PGE2). The activity of this receptor is mediated by G(q) proteins which activate a phosphatidylinositol-calcium second messenger system. May play a role as an important modulator of renal function. Implicated the smooth muscle contractile response to PGE2 in various tissues. smooth muscle BTO:0001260 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 112 3300008776 Rose P34995 5731 PTGER1 Homo sapiens 9606 Comment/function Receptor for prostaglandin E2 (PGE2). The activity of this receptor is mediated by G(q) proteins which activate a phosphatidylinositol-calcium second messenger system. May play a role as an important modulator of renal function. Implicated the smooth muscle contractile response to PGE2 in various tissues. smooth muscle tissue UBERON:0001135 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 112 3300008777 Rose P34995 5731 PTGER1 Homo sapiens 9606 Comment/subcellular location Cell membrane;Multi-pass membrane protein plasma membrane GO:0005886 SL-0039 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 112 3300008779 Rose P34995 5731 PTGER1 Homo sapiens 9606 Comment/tissue specificity Abundant in kidney. Lower level expression in lung, skeletal muscle and spleen, lowest expression in testis and not detected in liver brain and heart. kidney BTO:0000671 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 112 3300008783 Rose P34995 5731 PTGER1 Homo sapiens 9606 Comment/tissue specificity Abundant in kidney. Lower level expression in lung, skeletal muscle and spleen, lowest expression in testis and not detected in liver brain and heart. kidney UBERON:0002113 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 112 3300008784 Rose P34995 5731 PTGER1 Homo sapiens 9606 Comment/tissue specificity Abundant in kidney. Lower level expression in lung, skeletal muscle and spleen, lowest expression in testis and not detected in liver brain and heart. lung BTO:0000763 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 112 3300008785 Rose P34995 5731 PTGER1 Homo sapiens 9606 Comment/tissue specificity Abundant in kidney. Lower level expression in lung, skeletal muscle and spleen, lowest expression in testis and not detected in liver brain and heart. lung UBERON:0002048 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 112 3300008786 Rose P34995 5731 PTGER1 Homo sapiens 9606 Comment/tissue specificity Abundant in kidney. Lower level expression in lung, skeletal muscle and spleen, lowest expression in testis and not detected in liver brain and heart. skeletal muscle BTO:0001103 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 112 3300008787 Rose P34995 5731 PTGER1 Homo sapiens 9606 Comment/tissue specificity Abundant in kidney. Lower level expression in lung, skeletal muscle and spleen, lowest expression in testis and not detected in liver brain and heart. skeletal muscle tissue UBERON:0001134 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 112 3300008788 Rose P34995 5731 PTGER1 Homo sapiens 9606 Comment/tissue specificity Abundant in kidney. Lower level expression in lung, skeletal muscle and spleen, lowest expression in testis and not detected in liver brain and heart. spleen BTO:0001281 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 112 3300008789 Rose P34995 5731 PTGER1 Homo sapiens 9606 Comment/tissue specificity Abundant in kidney. Lower level expression in lung, skeletal muscle and spleen, lowest expression in testis and not detected in liver brain and heart. spleen UBERON:0002106 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 112 3300008790 Rose/Faith P34995 5731 PTGER1 Homo sapiens 9606 Comment/tissue specificity Abundant in kidney. Lower level expression in lung, skeletal muscle and spleen, lowest expression in testis and not detected in liver brain and heart. testis BTO:0001363 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 112 3300008791 Rose/Faith P34995 5731 PTGER1 Homo sapiens 9606 Comment/tissue specificity Abundant in kidney. Lower level expression in lung, skeletal muscle and spleen, lowest expression in testis and not detected in liver brain and heart. testis UBERON:0000473 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 112 3300008792 Rose P43116 5732 PTGER2 Homo sapiens 9606 Comment/subcellular location Cell membrane;Multi-pass membrane protein plasma membrane GO:0005886 SL-0039 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 112 3300008794 Rose P43116 5732 PTGER2 Homo sapiens 9606 Comment/tissue specificity Placenta and lung. lung BTO:0000763 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 112 3300008795 Rose P43116 5732 PTGER2 Homo sapiens 9606 Comment/tissue specificity Placenta and lung. lung UBERON:0002048 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 112 3300008796 Rose P43116 5732 PTGER2 Homo sapiens 9606 Comment/tissue specificity Placenta and lung. placenta BTO:0001078 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 112 3300008797 Rose P43116 5732 PTGER2 Homo sapiens 9606 Comment/tissue specificity Placenta and lung. placenta UBERON:0001987 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 112 3300008798 Rose P43115 5733 PTGER3 Homo sapiens 9606 Comment/tissue specificity Expressed in small intestine, heart, pancreas, gastric fundic mucosa, mammary artery and pulmonary vessels. artery BTO:0000573 Y Y ECO:0000006 PubMed:18023986 UniProtKB mammary artery term (or synonym) not available AAP 1/9/2013 131 3300008801 Rose P43115 5733 PTGER3 Homo sapiens 9606 Comment/tissue specificity Expressed in small intestine, heart, pancreas, gastric fundic mucosa, mammary artery and pulmonary vessels. artery UBERON:0001637 Y Y ECO:0000006 PubMed:18023986 UniProtKB mammary artery term (or synonym) not available AAP 1/9/2013 131 3300008802 Rose P43115 5733 PTGER3 Homo sapiens 9606 Comment/tissue specificity Expressed in small intestine, heart, pancreas, gastric fundic mucosa, mammary artery and pulmonary vessels. fundic mucosa BTO:0004109 Y Y ECO:0000006 PubMed:18023986 UniProtKB AAP 1/9/2013 131 3300008803 Rose P43115 5733 PTGER3 Homo sapiens 9606 Comment/tissue specificity Expressed in small intestine, heart, pancreas, gastric fundic mucosa, mammary artery and pulmonary vessels. gastrointestinal system mucosa UBERON:0004786 Y Y ECO:0000006 PubMed:18023986 UniProtKB AAP 1/9/2013 131 3300008804 Rose P43115 5733 PTGER3 Homo sapiens 9606 Comment/tissue specificity Expressed in small intestine, heart, pancreas, gastric fundic mucosa, mammary artery and pulmonary vessels. gastric mucosa BTO:0001308 Y Y ECO:0000006 PubMed:18023986 UniProtKB AAP 1/9/2013 131 3300008805 Rose P43115 5733 PTGER3 Homo sapiens 9606 Comment/tissue specificity Expressed in small intestine, heart, pancreas, gastric fundic mucosa, mammary artery and pulmonary vessels. heart BTO:0000562 Y Y ECO:0000006 PubMed:18023986 UniProtKB AAP 1/9/2013 131 3300008806 Rose P43115 5733 PTGER3 Homo sapiens 9606 Comment/tissue specificity Expressed in small intestine, heart, pancreas, gastric fundic mucosa, mammary artery and pulmonary vessels. heart UBERON:0000948 Y Y ECO:0000006 PubMed:18023986 UniProtKB AAP 1/9/2013 131 3300008807 Rose P43115 5733 PTGER3 Homo sapiens 9606 Comment/tissue specificity Expressed in small intestine, heart, pancreas, gastric fundic mucosa, mammary artery and pulmonary vessels. pancreas BTO:0000988 Y Y ECO:0000006 PubMed:18023986 UniProtKB AAP 1/9/2013 131 3300008808 Rose P43115 5733 PTGER3 Homo sapiens 9606 Comment/tissue specificity Expressed in small intestine, heart, pancreas, gastric fundic mucosa, mammary artery and pulmonary vessels. pancreas UBERON:0001264 Y Y ECO:0000006 PubMed:18023986 UniProtKB AAP 1/9/2013 131 3300008809 Rose P43115 5733 PTGER3 Homo sapiens 9606 Comment/tissue specificity Expressed in small intestine, heart, pancreas, gastric fundic mucosa, mammary artery and pulmonary vessels. pulmonary vein BTO:0001799 Y Y ECO:0000006 PubMed:18023986 UniProtKB AAP 1/9/2013 131 3300008810 Rose P43115 5733 PTGER3 Homo sapiens 9606 Comment/tissue specificity Expressed in small intestine, heart, pancreas, gastric fundic mucosa, mammary artery and pulmonary vessels. lung blood vessel UBERON:0003512 Y Y ECO:0000006 PubMed:18023986 UniProtKB AAP 1/9/2013 131 3300008811 Rose P43115 5733 PTGER3 Homo sapiens 9606 Comment/tissue specificity Expressed in small intestine, heart, pancreas, gastric fundic mucosa, mammary artery and pulmonary vessels. small intestine BTO:0000651 Y Y ECO:0000006 PubMed:18023986 UniProtKB AAP 1/9/2013 131 3300008812 Rose P43115 5733 PTGER3 Homo sapiens 9606 Comment/tissue specificity Expressed in small intestine, heart, pancreas, gastric fundic mucosa, mammary artery and pulmonary vessels. small intestine UBERON:0002108 Y Y ECO:0000006 PubMed:18023986 UniProtKB AAP 1/9/2013 131 3300008813 Rose P35408 5734 PTGER4 Homo sapiens 9606 Comment/function Receptor for prostaglandin E2 (PGE2). The activity of this receptor is mediated by G(s) proteins that stimulate adenylate cyclase. Has a relaxing effect on smooth muscle. May play an important role in regulating renal hemodynamics, intestinal epithelial transport, adrenal aldosterone secretion, and uterine function. smooth muscle BTO:0001260 Y Y ECO:0000311 UniProtKB Tissue info not necessariy linked to PMID source. AAP 2/6/2013 124 3300008815 Rose P35408 5734 PTGER4 Homo sapiens 9606 Comment/function Receptor for prostaglandin E2 (PGE2). The activity of this receptor is mediated by G(s) proteins that stimulate adenylate cyclase. Has a relaxing effect on smooth muscle. May play an important role in regulating renal hemodynamics, intestinal epithelial transport, adrenal aldosterone secretion, and uterine function. smooth muscle tissue UBERON:0001135 Y Y ECO:0000311 UniProtKB Tissue info not necessariy linked to PMID source. AAP 2/6/2013 124 3300008816 Rose P35408 5734 PTGER4 Homo sapiens 9606 Comment/subcellular location Cell membrane;Multi-pass membrane protein plasma membrane GO:0005886 SL-0039 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 124 3300008817 Rose/Faith P35408 5734 PTGER4 Homo sapiens 9606 Comment/tissue specificity High in intestine and in peripheral blood mononuclear cells; low in lung, kidney, thymus, uterus, vasculature and brain. Not found in liver, heart, retina oe skeletal muscle. brain BTO:0000142 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 124 3300008822 Rose/Faith P35408 5734 PTGER4 Homo sapiens 9606 Comment/tissue specificity High in intestine and in peripheral blood mononuclear cells; low in lung, kidney, thymus, uterus, vasculature and brain. Not found in liver, heart, retina oe skeletal muscle. brain UBERON:0000955 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 124 3300008823 Rose P35408 5734 PTGER4 Homo sapiens 9606 Comment/tissue specificity High in intestine and in peripheral blood mononuclear cells; low in lung, kidney, thymus, uterus, vasculature and brain. Not found in liver, heart, retina oe skeletal muscle. hematopoietic cell BTO:0000574 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 124 3300008824 Rose P35408 5734 PTGER4 Homo sapiens 9606 Comment/tissue specificity High in intestine and in peripheral blood mononuclear cells; low in lung, kidney, thymus, uterus, vasculature and brain. Not found in liver, heart, retina oe skeletal muscle. blood UBERON:0000178 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 124 3300008825 Rose P35408 5734 PTGER4 Homo sapiens 9606 Comment/tissue specificity High in intestine and in peripheral blood mononuclear cells; low in lung, kidney, thymus, uterus, vasculature and brain. Not found in liver, heart, retina oe skeletal muscle. intestine BTO:0000648 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 124 3300008826 Rose P35408 5734 PTGER4 Homo sapiens 9606 Comment/tissue specificity High in intestine and in peripheral blood mononuclear cells; low in lung, kidney, thymus, uterus, vasculature and brain. Not found in liver, heart, retina oe skeletal muscle. intestine UBERON:0000160 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 124 3300008827 Rose/Faith P35408 5734 PTGER4 Homo sapiens 9606 Comment/tissue specificity High in intestine and in peripheral blood mononuclear cells; low in lung, kidney, thymus, uterus, vasculature and brain. Not found in liver, heart, retina oe skeletal muscle. kidney BTO:0000671 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 124 3300008828 Rose/Faith P35408 5734 PTGER4 Homo sapiens 9606 Comment/tissue specificity High in intestine and in peripheral blood mononuclear cells; low in lung, kidney, thymus, uterus, vasculature and brain. Not found in liver, heart, retina oe skeletal muscle. kidney UBERON:0002113 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 124 3300008829 Rose/Faith P35408 5734 PTGER4 Homo sapiens 9606 Comment/tissue specificity High in intestine and in peripheral blood mononuclear cells; low in lung, kidney, thymus, uterus, vasculature and brain. Not found in liver, heart, retina oe skeletal muscle. lung BTO:0000763 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 124 3300008830 Rose/Faith P35408 5734 PTGER4 Homo sapiens 9606 Comment/tissue specificity High in intestine and in peripheral blood mononuclear cells; low in lung, kidney, thymus, uterus, vasculature and brain. Not found in liver, heart, retina oe skeletal muscle. lung UBERON:0002048 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 124 3300008831 Rose/Faith P35408 5734 PTGER4 Homo sapiens 9606 Comment/tissue specificity High in intestine and in peripheral blood mononuclear cells; low in lung, kidney, thymus, uterus, vasculature and brain. Not found in liver, heart, retina oe skeletal muscle. thymus BTO:0001374 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 124 3300008832 Rose/Faith P35408 5734 PTGER4 Homo sapiens 9606 Comment/tissue specificity High in intestine and in peripheral blood mononuclear cells; low in lung, kidney, thymus, uterus, vasculature and brain. Not found in liver, heart, retina oe skeletal muscle. thymus UBERON:0002370 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 124 3300008833 Rose/Faith P35408 5734 PTGER4 Homo sapiens 9606 Comment/tissue specificity High in intestine and in peripheral blood mononuclear cells; low in lung, kidney, thymus, uterus, vasculature and brain. Not found in liver, heart, retina oe skeletal muscle. uterus BTO:0001424 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 124 3300008834 Rose/Faith P35408 5734 PTGER4 Homo sapiens 9606 Comment/tissue specificity High in intestine and in peripheral blood mononuclear cells; low in lung, kidney, thymus, uterus, vasculature and brain. Not found in liver, heart, retina oe skeletal muscle. uterus UBERON:0000995 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 124 3300008835 Rose/Faith P35408 5734 PTGER4 Homo sapiens 9606 Comment/tissue specificity High in intestine and in peripheral blood mononuclear cells; low in lung, kidney, thymus, uterus, vasculature and brain. Not found in liver, heart, retina oe skeletal muscle. vasculature BTO:0003718 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 124 3300008836 Rose/Faith P35408 5734 PTGER4 Homo sapiens 9606 Comment/tissue specificity High in intestine and in peripheral blood mononuclear cells; low in lung, kidney, thymus, uterus, vasculature and brain. Not found in liver, heart, retina oe skeletal muscle. vasculature UBERON:0002049 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 124 3300008837 Mike O14684 9536 PTGES Homo sapiens 9606 EC 5.3.99.3 Y Y ECO:0000311 EC number UniProtKB AAP, DGA 2/6/2013 100 3300008841 Katie Q9H7Z7 80142 PTGES2 Homo sapiens 9606 Comment/tissue specificity Widely expressed. Expressed in the heart, including apex, inter-ventricular septum, both atria and ventricles, but not in the aorta. Also expressed in fetal heart. Detected in various regions of the brain: cerebellum; occipital, frontal and parietal lobes. Also expressed in the lymph nodes, skeletal muscle, kidney and trachea, but not in the thymus or lung. Overexpressed in colorectal cancer. heart BTO:0000562 fetus BTO:0000449 Y Y ECO:0000006 PubMed:11866447 UniProtKB AAP 2/6/2013 110 3300008842 Katie Q9H7Z7 80142 PTGES2 Homo sapiens 9606 Comment/tissue specificity Widely expressed. Expressed in the heart, including apex, inter-ventricular septum, both atria and ventricles, but not in the aorta. Also expressed in fetal heart. Detected in various regions of the brain: cerebellum; occipital, frontal and parietal lobes. Also expressed in the lymph nodes, skeletal muscle, kidney and trachea, but not in the thymus or lung. Overexpressed in colorectal cancer. heart UBERON:0000948 fetus BTO:0000449 Y Y ECO:0000006 PubMed:11866447 UniProtKB AAP 2/6/2013 110 3300008843 Katie Q9H7Z7 80142 PTGES2 Homo sapiens 9606 Comment/pathway Lipid metabolism; prostaglandin biosynthesis. lipid metabolic process GO:0006629 UPA00436 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 110 3300008845 Katie Q9H7Z7 80142 PTGES2 Homo sapiens 9606 Comment/pathway Lipid metabolism; prostaglandin biosynthesis. prostaglandin biosynthetic process GO:0001516 UPA00436 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 110 3300008846 Katie Q9H7Z7 80142 PTGES2 Homo sapiens 9606 Comment/subcellular location Perinuclear region perinuclear region of cytoplasm GO:0048471 SL-0198 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 110 3300008848 Katie/Faith Q9H7Z7 80142 PTGES2 Homo sapiens 9606 Comment/tissue specificity Widely expressed. Expressed in the heart, including apex, inter-ventricular septum, both atria and ventricles, but not in the aorta. Also expressed in fetal heart. Detected in various regions of the brain: cerebellum; occipital, frontal and parietal lobes. Also expressed in the lymph nodes, skeletal muscle, kidney and trachea, but not in the thymus or lung. Overexpressed in colorectal cancer. colon BTO:0000269 colorectal cancer DOID:9256 Y Y ECO:0000006 PubMed:11866447 UniProtKB Overexpressed in colorectal cancer AAP 2/6/2013 110 3300008850 Katie/Faith Q9H7Z7 80142 PTGES2 Homo sapiens 9606 Comment/tissue specificity Widely expressed. Expressed in the heart, including apex, inter-ventricular septum, both atria and ventricles, but not in the aorta. Also expressed in fetal heart. Detected in various regions of the brain: cerebellum; occipital, frontal and parietal lobes. Also expressed in the lymph nodes, skeletal muscle, kidney and trachea, but not in the thymus or lung. Overexpressed in colorectal cancer. colon UBERON:0001155 colorectal cancer DOID:9256 Y Y ECO:0000006 PubMed:11866447 UniProtKB Overexpressed in colorectal cancer AAP 2/6/2013 110 3300008851 Katie/Faith Q9H7Z7 80142 PTGES2 Homo sapiens 9606 Comment/tissue specificity Widely expressed. Expressed in the heart, including apex, inter-ventricular septum, both atria and ventricles, but not in the aorta. Also expressed in fetal heart. Detected in various regions of the brain: cerebellum; occipital, frontal and parietal lobes. Also expressed in the lymph nodes, skeletal muscle, kidney and trachea, but not in the thymus or lung. Overexpressed in colorectal cancer. colon BTO:0000269 Y Y ECO:0000006 PubMed:11866447 UniProtKB Overexpressed in colorectal cancer AAP 2/6/2013 110 3300008852 Katie/Faith Q9H7Z7 80142 PTGES2 Homo sapiens 9606 Comment/tissue specificity Widely expressed. Expressed in the heart, including apex, inter-ventricular septum, both atria and ventricles, but not in the aorta. Also expressed in fetal heart. Detected in various regions of the brain: cerebellum; occipital, frontal and parietal lobes. Also expressed in the lymph nodes, skeletal muscle, kidney and trachea, but not in the thymus or lung. Overexpressed in colorectal cancer. colon UBERON:0001155 Y Y ECO:0000006 PubMed:11866447 UniProtKB Overexpressed in colorectal cancer AAP 2/6/2013 110 3300008853 Katie Q9H7Z7 80142 PTGES2 Homo sapiens 9606 Comment/tissue specificity Widely expressed. Expressed in the heart, including apex, inter-ventricular septum, both atria and ventricles, but not in the aorta. Also expressed in fetal heart. Detected in various regions of the brain: cerebellum; occipital, frontal and parietal lobes. Also expressed in the lymph nodes, skeletal muscle, kidney and trachea, but not in the thymus or lung. Overexpressed in colorectal cancer. heart BTO:0000562 Y Y ECO:0000006 PubMed:11866447 UniProtKB Uberon term is more specific. AAP 2/6/2013 110 3300008856 Katie Q9H7Z7 80142 PTGES2 Homo sapiens 9606 Comment/tissue specificity Widely expressed. Expressed in the heart, including apex, inter-ventricular septum, both atria and ventricles, but not in the aorta. Also expressed in fetal heart. Detected in various regions of the brain: cerebellum; occipital, frontal and parietal lobes. Also expressed in the lymph nodes, skeletal muscle, kidney and trachea, but not in the thymus or lung. Overexpressed in colorectal cancer. apex of heart UBERON:0002098 Y Y ECO:0000006 PubMed:11866447 UniProtKB Uberon term is more specific. AAP 2/6/2013 110 3300008857 Katie Q9H7Z7 80142 PTGES2 Homo sapiens 9606 Comment/tissue specificity Widely expressed. Expressed in the heart, including apex, inter-ventricular septum, both atria and ventricles, but not in the aorta. Also expressed in fetal heart. Detected in various regions of the brain: cerebellum; occipital, frontal and parietal lobes. Also expressed in the lymph nodes, skeletal muscle, kidney and trachea, but not in the thymus or lung. Overexpressed in colorectal cancer. atrium BTO:0000903 Y Y ECO:0000006 PubMed:11866447 UniProtKB AAP 2/6/2013 110 3300008859 Katie Q9H7Z7 80142 PTGES2 Homo sapiens 9606 Comment/tissue specificity Widely expressed. Expressed in the heart, including apex, inter-ventricular septum, both atria and ventricles, but not in the aorta. Also expressed in fetal heart. Detected in various regions of the brain: cerebellum; occipital, frontal and parietal lobes. Also expressed in the lymph nodes, skeletal muscle, kidney and trachea, but not in the thymus or lung. Overexpressed in colorectal cancer. cardiac atrium UBERON:0002081 Y Y ECO:0000006 PubMed:11866447 UniProtKB AAP 2/6/2013 110 3300008860 Katie Q9H7Z7 80142 PTGES2 Homo sapiens 9606 Comment/tissue specificity Widely expressed. Expressed in the heart, including apex, inter-ventricular septum, both atria and ventricles, but not in the aorta. Also expressed in fetal heart. Detected in various regions of the brain: cerebellum; occipital, frontal and parietal lobes. Also expressed in the lymph nodes, skeletal muscle, kidney and trachea, but not in the thymus or lung. Overexpressed in colorectal cancer. brain BTO:0000142 Y Y ECO:0000006 PubMed:11866447 UniProtKB AAP 2/6/2013 110 3300008861 Katie Q9H7Z7 80142 PTGES2 Homo sapiens 9606 Comment/tissue specificity Widely expressed. Expressed in the heart, including apex, inter-ventricular septum, both atria and ventricles, but not in the aorta. Also expressed in fetal heart. Detected in various regions of the brain: cerebellum; occipital, frontal and parietal lobes. Also expressed in the lymph nodes, skeletal muscle, kidney and trachea, but not in the thymus or lung. Overexpressed in colorectal cancer. brain UBERON:0000955 Y Y ECO:0000006 PubMed:11866447 UniProtKB AAP 2/6/2013 110 3300008862 Katie Q9H7Z7 80142 PTGES2 Homo sapiens 9606 Comment/tissue specificity Widely expressed. Expressed in the heart, including apex, inter-ventricular septum, both atria and ventricles, but not in the aorta. Also expressed in fetal heart. Detected in various regions of the brain: cerebellum; occipital, frontal and parietal lobes. Also expressed in the lymph nodes, skeletal muscle, kidney and trachea, but not in the thymus or lung. Overexpressed in colorectal cancer. cerebellum BTO:0000232 Y Y ECO:0000006 PubMed:11866447 UniProtKB AAP 2/6/2013 110 3300008863 Katie Q9H7Z7 80142 PTGES2 Homo sapiens 9606 Comment/tissue specificity Widely expressed. Expressed in the heart, including apex, inter-ventricular septum, both atria and ventricles, but not in the aorta. Also expressed in fetal heart. Detected in various regions of the brain: cerebellum; occipital, frontal and parietal lobes. Also expressed in the lymph nodes, skeletal muscle, kidney and trachea, but not in the thymus or lung. Overexpressed in colorectal cancer. cerebellum UBERON:0002037 Y Y ECO:0000006 PubMed:11866447 UniProtKB AAP 2/6/2013 110 3300008864 Katie Q9H7Z7 80142 PTGES2 Homo sapiens 9606 Comment/tissue specificity Widely expressed. Expressed in the heart, including apex, inter-ventricular septum, both atria and ventricles, but not in the aorta. Also expressed in fetal heart. Detected in various regions of the brain: cerebellum; occipital, frontal and parietal lobes. Also expressed in the lymph nodes, skeletal muscle, kidney and trachea, but not in the thymus or lung. Overexpressed in colorectal cancer. frontal lobe BTO:0000484 Y Y ECO:0000006 PubMed:11866447 UniProtKB AAP 2/6/2013 110 3300008865 Katie Q9H7Z7 80142 PTGES2 Homo sapiens 9606 Comment/tissue specificity Widely expressed. Expressed in the heart, including apex, inter-ventricular septum, both atria and ventricles, but not in the aorta. Also expressed in fetal heart. Detected in various regions of the brain: cerebellum; occipital, frontal and parietal lobes. Also expressed in the lymph nodes, skeletal muscle, kidney and trachea, but not in the thymus or lung. Overexpressed in colorectal cancer. frontal cortex UBERON:0001870 Y Y ECO:0000006 PubMed:11866447 UniProtKB AAP 2/6/2013 110 3300008866 Katie Q9H7Z7 80142 PTGES2 Homo sapiens 9606 Comment/tissue specificity Widely expressed. Expressed in the heart, including apex, inter-ventricular septum, both atria and ventricles, but not in the aorta. Also expressed in fetal heart. Detected in various regions of the brain: cerebellum; occipital, frontal and parietal lobes. Also expressed in the lymph nodes, skeletal muscle, kidney and trachea, but not in the thymus or lung. Overexpressed in colorectal cancer. heart BTO:0000562 Y Y ECO:0000006 PubMed:11866447 UniProtKB AAP 2/6/2013 110 3300008867 Katie Q9H7Z7 80142 PTGES2 Homo sapiens 9606 Comment/tissue specificity Widely expressed. Expressed in the heart, including apex, inter-ventricular septum, both atria and ventricles, but not in the aorta. Also expressed in fetal heart. Detected in various regions of the brain: cerebellum; occipital, frontal and parietal lobes. Also expressed in the lymph nodes, skeletal muscle, kidney and trachea, but not in the thymus or lung. Overexpressed in colorectal cancer. heart UBERON:0000948 Y Y ECO:0000006 PubMed:11866447 UniProtKB AAP 2/6/2013 110 3300008868 Katie Q9H7Z7 80142 PTGES2 Homo sapiens 9606 Comment/tissue specificity Widely expressed. Expressed in the heart, including apex, inter-ventricular septum, both atria and ventricles, but not in the aorta. Also expressed in fetal heart. Detected in various regions of the brain: cerebellum; occipital, frontal and parietal lobes. Also expressed in the lymph nodes, skeletal muscle, kidney and trachea, but not in the thymus or lung. Overexpressed in colorectal cancer. heart ventricle BTO:0000862 Y Y ECO:0000006 PubMed:11866447 UniProtKB AAP 2/6/2013 110 3300008869 Katie Q9H7Z7 80142 PTGES2 Homo sapiens 9606 Comment/tissue specificity Widely expressed. Expressed in the heart, including apex, inter-ventricular septum, both atria and ventricles, but not in the aorta. Also expressed in fetal heart. Detected in various regions of the brain: cerebellum; occipital, frontal and parietal lobes. Also expressed in the lymph nodes, skeletal muscle, kidney and trachea, but not in the thymus or lung. Overexpressed in colorectal cancer. cardiac ventricle UBERON:0002082 Y Y ECO:0000006 PubMed:11866447 UniProtKB AAP 2/6/2013 110 3300008870 Katie Q9H7Z7 80142 PTGES2 Homo sapiens 9606 Comment/tissue specificity Widely expressed. Expressed in the heart, including apex, inter-ventricular septum, both atria and ventricles, but not in the aorta. Also expressed in fetal heart. Detected in various regions of the brain: cerebellum; occipital, frontal and parietal lobes. Also expressed in the lymph nodes, skeletal muscle, kidney and trachea, but not in the thymus or lung. Overexpressed in colorectal cancer. interventricular septum BTO:0002483 Y Y ECO:0000006 PubMed:11866447 UniProtKB AAP 2/6/2013 110 3300008871 Katie Q9H7Z7 80142 PTGES2 Homo sapiens 9606 Comment/tissue specificity Widely expressed. Expressed in the heart, including apex, inter-ventricular septum, both atria and ventricles, but not in the aorta. Also expressed in fetal heart. Detected in various regions of the brain: cerebellum; occipital, frontal and parietal lobes. Also expressed in the lymph nodes, skeletal muscle, kidney and trachea, but not in the thymus or lung. Overexpressed in colorectal cancer. septum UBERON:0003037 Y Y ECO:0000006 PubMed:11866447 UniProtKB AAP 2/6/2013 110 3300008872 Katie Q9H7Z7 80142 PTGES2 Homo sapiens 9606 Comment/tissue specificity Widely expressed. Expressed in the heart, including apex, inter-ventricular septum, both atria and ventricles, but not in the aorta. Also expressed in fetal heart. Detected in various regions of the brain: cerebellum; occipital, frontal and parietal lobes. Also expressed in the lymph nodes, skeletal muscle, kidney and trachea, but not in the thymus or lung. Overexpressed in colorectal cancer. kidney BTO:0000671 Y Y ECO:0000006 PubMed:11866447 UniProtKB AAP 2/6/2013 110 3300008873 Katie Q9H7Z7 80142 PTGES2 Homo sapiens 9606 Comment/tissue specificity Widely expressed. Expressed in the heart, including apex, inter-ventricular septum, both atria and ventricles, but not in the aorta. Also expressed in fetal heart. Detected in various regions of the brain: cerebellum; occipital, frontal and parietal lobes. Also expressed in the lymph nodes, skeletal muscle, kidney and trachea, but not in the thymus or lung. Overexpressed in colorectal cancer. kidney UBERON:0002113 Y Y ECO:0000006 PubMed:11866447 UniProtKB AAP 2/6/2013 110 3300008874 Katie Q9H7Z7 80142 PTGES2 Homo sapiens 9606 Comment/tissue specificity Widely expressed. Expressed in the heart, including apex, inter-ventricular septum, both atria and ventricles, but not in the aorta. Also expressed in fetal heart. Detected in various regions of the brain: cerebellum; occipital, frontal and parietal lobes. Also expressed in the lymph nodes, skeletal muscle, kidney and trachea, but not in the thymus or lung. Overexpressed in colorectal cancer. lymph node BTO:0000784 Y Y ECO:0000006 PubMed:11866447 UniProtKB AAP 2/6/2013 110 3300008875 Katie Q9H7Z7 80142 PTGES2 Homo sapiens 9606 Comment/tissue specificity Widely expressed. Expressed in the heart, including apex, inter-ventricular septum, both atria and ventricles, but not in the aorta. Also expressed in fetal heart. Detected in various regions of the brain: cerebellum; occipital, frontal and parietal lobes. Also expressed in the lymph nodes, skeletal muscle, kidney and trachea, but not in the thymus or lung. Overexpressed in colorectal cancer. lymph node UBERON:0000029 Y Y ECO:0000006 PubMed:11866447 UniProtKB AAP 2/6/2013 110 3300008876 Katie Q9H7Z7 80142 PTGES2 Homo sapiens 9606 Comment/tissue specificity Widely expressed. Expressed in the heart, including apex, inter-ventricular septum, both atria and ventricles, but not in the aorta. Also expressed in fetal heart. Detected in various regions of the brain: cerebellum; occipital, frontal and parietal lobes. Also expressed in the lymph nodes, skeletal muscle, kidney and trachea, but not in the thymus or lung. Overexpressed in colorectal cancer. occipital lobe BTO:0000293 Y Y ECO:0000006 PubMed:11866447 UniProtKB AAP 2/6/2013 110 3300008877 Katie Q9H7Z7 80142 PTGES2 Homo sapiens 9606 Comment/tissue specificity Widely expressed. Expressed in the heart, including apex, inter-ventricular septum, both atria and ventricles, but not in the aorta. Also expressed in fetal heart. Detected in various regions of the brain: cerebellum; occipital, frontal and parietal lobes. Also expressed in the lymph nodes, skeletal muscle, kidney and trachea, but not in the thymus or lung. Overexpressed in colorectal cancer. occipital lobe UBERON:0002021 Y Y ECO:0000006 PubMed:11866447 UniProtKB AAP 2/6/2013 110 3300008878 Katie Q9H7Z7 80142 PTGES2 Homo sapiens 9606 Comment/tissue specificity Widely expressed. Expressed in the heart, including apex, inter-ventricular septum, both atria and ventricles, but not in the aorta. Also expressed in fetal heart. Detected in various regions of the brain: cerebellum; occipital, frontal and parietal lobes. Also expressed in the lymph nodes, skeletal muscle, kidney and trachea, but not in the thymus or lung. Overexpressed in colorectal cancer. parietal lobe BTO:0001001 Y Y ECO:0000006 PubMed:11866447 UniProtKB AAP 2/6/2013 110 3300008879 Katie Q9H7Z7 80142 PTGES2 Homo sapiens 9606 Comment/tissue specificity Widely expressed. Expressed in the heart, including apex, inter-ventricular septum, both atria and ventricles, but not in the aorta. Also expressed in fetal heart. Detected in various regions of the brain: cerebellum; occipital, frontal and parietal lobes. Also expressed in the lymph nodes, skeletal muscle, kidney and trachea, but not in the thymus or lung. Overexpressed in colorectal cancer. parietal lobe UBERON:0001872 Y Y ECO:0000006 PubMed:11866447 UniProtKB AAP 2/6/2013 110 3300008880 Katie Q9H7Z7 80142 PTGES2 Homo sapiens 9606 Comment/tissue specificity Widely expressed. Expressed in the heart, including apex, inter-ventricular septum, both atria and ventricles, but not in the aorta. Also expressed in fetal heart. Detected in various regions of the brain: cerebellum; occipital, frontal and parietal lobes. Also expressed in the lymph nodes, skeletal muscle, kidney and trachea, but not in the thymus or lung. Overexpressed in colorectal cancer. skeletal muscle BTO:0001103 Y Y ECO:0000006 PubMed:11866447 UniProtKB AAP 2/6/2013 110 3300008881 Katie Q9H7Z7 80142 PTGES2 Homo sapiens 9606 Comment/tissue specificity Widely expressed. Expressed in the heart, including apex, inter-ventricular septum, both atria and ventricles, but not in the aorta. Also expressed in fetal heart. Detected in various regions of the brain: cerebellum; occipital, frontal and parietal lobes. Also expressed in the lymph nodes, skeletal muscle, kidney and trachea, but not in the thymus or lung. Overexpressed in colorectal cancer. skeletal muscle tissue UBERON:0001134 Y Y ECO:0000006 PubMed:11866447 UniProtKB AAP 2/6/2013 110 3300008882 Katie Q9H7Z7 80142 PTGES2 Homo sapiens 9606 Comment/tissue specificity Widely expressed. Expressed in the heart, including apex, inter-ventricular septum, both atria and ventricles, but not in the aorta. Also expressed in fetal heart. Detected in various regions of the brain: cerebellum; occipital, frontal and parietal lobes. Also expressed in the lymph nodes, skeletal muscle, kidney and trachea, but not in the thymus or lung. Overexpressed in colorectal cancer. trachea BTO:0001388 Y Y ECO:0000006 PubMed:11866447 UniProtKB AAP 2/6/2013 110 3300008883 Katie Q9H7Z7 80142 PTGES2 Homo sapiens 9606 Comment/tissue specificity Widely expressed. Expressed in the heart, including apex, inter-ventricular septum, both atria and ventricles, but not in the aorta. Also expressed in fetal heart. Detected in various regions of the brain: cerebellum; occipital, frontal and parietal lobes. Also expressed in the lymph nodes, skeletal muscle, kidney and trachea, but not in the thymus or lung. Overexpressed in colorectal cancer. trachea UBERON:0003126 Y Y ECO:0000006 PubMed:11866447 UniProtKB AAP 2/6/2013 110 3300008884 Katie Q9H7Z7 80142 PTGES2 Homo sapiens 9606 EC 5.3.99.3 Y Y ECO:0000311 EC number UniProtKB AAP 2/6/2013 110 3300008885 Faith Q15185 10728 PTGES3 Homo sapiens 9606 EC 5.3.99.3 Y Y ECO:0000311 EC number UniProtKB AAP 2/6/2013 125 3300008889 Faith Q16647 5740 PTGIS Homo sapiens 9606 Comment/tissue specificity Widely expressed; particularly abundant in ovary, heart, skeletal muscle, lung and prostate. heart BTO:0000562 Y Y ECO:0000311 UniProtKB particularly abundant AAP, DGA 2/6/2013 129 3300008896 Faith Q16647 5740 PTGIS Homo sapiens 9606 Comment/tissue specificity Widely expressed; particularly abundant in ovary, heart, skeletal muscle, lung and prostate. heart UBERON:0000948 Y Y ECO:0000311 UniProtKB particularly abundant AAP, DGA 2/6/2013 129 3300008897 Faith Q16647 5740 PTGIS Homo sapiens 9606 Comment/tissue specificity Widely expressed; particularly abundant in ovary, heart, skeletal muscle, lung and prostate. lung BTO:0000763 Y Y ECO:0000311 UniProtKB particularly abundant AAP, DGA 2/6/2013 129 3300008898 Faith Q16647 5740 PTGIS Homo sapiens 9606 Comment/tissue specificity Widely expressed; particularly abundant in ovary, heart, skeletal muscle, lung and prostate. lung UBERON:0002048 Y Y ECO:0000311 UniProtKB particularly abundant AAP, DGA 2/6/2013 129 3300008899 Faith Q16647 5740 PTGIS Homo sapiens 9606 Comment/tissue specificity Widely expressed; particularly abundant in ovary, heart, skeletal muscle, lung and prostate. ovary BTO:0000975 Y Y ECO:0000311 UniProtKB particularly abundant AAP, DGA 2/6/2013 129 3300008900 Faith Q16647 5740 PTGIS Homo sapiens 9606 Comment/tissue specificity Widely expressed; particularly abundant in ovary, heart, skeletal muscle, lung and prostate. female gonad UBERON:0000992 Y Y ECO:0000311 UniProtKB particularly abundant AAP, DGA 2/6/2013 129 3300008901 Faith Q16647 5740 PTGIS Homo sapiens 9606 Comment/tissue specificity Widely expressed; particularly abundant in ovary, heart, skeletal muscle, lung and prostate. prostate gland BTO:0001129 Y Y ECO:0000311 UniProtKB particularly abundant AAP, DGA 2/6/2013 129 3300008902 Faith Q16647 5740 PTGIS Homo sapiens 9606 Comment/tissue specificity Widely expressed; particularly abundant in ovary, heart, skeletal muscle, lung and prostate. prostate gland UBERON:0002367 Y Y ECO:0000311 UniProtKB particularly abundant AAP, DGA 2/6/2013 129 3300008903 Faith Q16647 5740 PTGIS Homo sapiens 9606 Comment/tissue specificity Widely expressed; particularly abundant in ovary, heart, skeletal muscle, lung and prostate. skeletal muscle BTO:0001103 Y Y ECO:0000311 UniProtKB particularly abundant AAP, DGA 2/6/2013 129 3300008904 Faith Q16647 5740 PTGIS Homo sapiens 9606 Comment/tissue specificity Widely expressed; particularly abundant in ovary, heart, skeletal muscle, lung and prostate. skeletal muscle tissue UBERON:0001134 Y Y ECO:0000311 UniProtKB particularly abundant AAP, DGA 2/6/2013 129 3300008905 Faith Q16647 5740 PTGIS Homo sapiens 9606 EC 5.3.99.4 Y Y ECO:0000311 EC number UniProtKB AAP, DGA 2/6/2013 129 3300008907 Katie Q14914 22949 PTGR1 Homo sapiens 9606 Comment/subcellular location Cytoplasm cytoplasm GO:0005737 SL-0086 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 125 3300008909 Katie Q14914 22949 PTGR1 Homo sapiens 9606 Comment/tissue specificity High expression in the kidney, liver, and intestine but not in leukocytes. intestine BTO:0000648 Y Y ECO:0000006 PubMed:8576264 UniProtKB AAP 1/9/2013 125 3300008911 Katie Q14914 22949 PTGR1 Homo sapiens 9606 Comment/tissue specificity High expression in the kidney, liver, and intestine but not in leukocytes. intestine UBERON:0000160 Y Y ECO:0000006 PubMed:8576264 UniProtKB AAP 1/9/2013 125 3300008912 Katie Q14914 22949 PTGR1 Homo sapiens 9606 Comment/tissue specificity High expression in the kidney, liver, and intestine but not in leukocytes. kidney BTO:0000671 Y Y ECO:0000006 PubMed:8576264 UniProtKB AAP 1/9/2013 125 3300008913 Katie Q14914 22949 PTGR1 Homo sapiens 9606 Comment/tissue specificity High expression in the kidney, liver, and intestine but not in leukocytes. kidney UBERON:0002113 Y Y ECO:0000006 PubMed:8576264 UniProtKB AAP 1/9/2013 125 3300008914 Katie Q14914 22949 PTGR1 Homo sapiens 9606 Comment/tissue specificity High expression in the kidney, liver, and intestine but not in leukocytes. liver BTO:0000759 Y Y ECO:0000006 PubMed:8576264 UniProtKB AAP 1/9/2013 125 3300008915 Katie Q14914 22949 PTGR1 Homo sapiens 9606 Comment/tissue specificity High expression in the kidney, liver, and intestine but not in leukocytes. liver UBERON:0002107 Y Y ECO:0000006 PubMed:8576264 UniProtKB AAP 1/9/2013 125 3300008916 Katie Q14914 22949 PTGR1 Homo sapiens 9606 EC 1.3.1.- Y Y ECO:0000311 EC number UniProtKB AAP 1/9/2013 125 3300008917 Rose P23219 5742 PTGS1 Homo sapiens 9606 Comment/miscellaneous This enzyme is the target of nonsteroidal anti-inflammatory drugs such as aspirin. acetylsalicylic acid CHEBI:15365 Y Y ECO:0000311 UniProtKB Possible druf info AAP, DGA 2/6/2013 151 3300008919 Rose P23219 5742 PTGS1 Homo sapiens 9606 Comment/pathway Lipid metabolism; prostaglandin biosynthesis. lipid metabolic process GO:0006629 UPA00436 Y Y ECO:0000311 UniProtKB AAP, DGA 2/6/2013 151 3300008921 Rose P23219 5742 PTGS1 Homo sapiens 9606 Comment/pathway Lipid metabolism; prostaglandin biosynthesis. prostaglandin biosynthetic process GO:0001516 UPA00436 Y Y ECO:0000311 UniProtKB AAP, DGA 2/6/2013 151 3300008922 Rose P23219 5742 PTGS1 Homo sapiens 9606 Comment/subcellular location Endoplasmic reticulum membrane;Peripheral membrane protein endoplasmic reticulum membrane GO:0005789 SL-0097 Y Y ECO:0000311 UniProtKB AAP, DGA 2/6/2013 151 3300008924 Rose P23219 5742 PTGS1 Homo sapiens 9606 Comment/subcellular location Microsome membrane;Peripheral membrane protein intracellular membrane-bounded organelle GO:0043231 SL-0165 Y Y ECO:0000311 UniProtKB Microsome obsolete GO term AAP, DGA 2/6/2013 151 3300008925 Rose P23219 5742 PTGS1 Homo sapiens 9606 EC 1.14.99.1 Y Y ECO:0000311 EC number UniProtKB AAP, DGA 2/6/2013 151 3300008926 Rose P35354 5743 PTGS2 Homo sapiens 9606 Comment/miscellaneous This enzyme is the target of nonsteroidal anti-inflammatory drugs such as aspirin. acetylsalicylic acid CHEBI:15365 Y Y ECO:0000311 UniProtKB AAP, DGA 2/6/2013 143 3300008929 Rose P35354 5743 PTGS2 Homo sapiens 9606 Comment/pathway Lipid metabolism; prostaglandin biosynthesis. lipid metabolic process GO:0006629 UPA00436 Y Y ECO:0000311 UniProtKB AAP, DGA 2/6/2013 143 3300008931 Rose P35354 5743 PTGS2 Homo sapiens 9606 Comment/pathway Lipid metabolism; prostaglandin biosynthesis. prostaglandin biosynthetic process GO:0001516 UPA00436 Y Y ECO:0000311 UniProtKB AAP, DGA 2/6/2013 143 3300008932 Rose P35354 5743 PTGS2 Homo sapiens 9606 Comment/subcellular location Endoplasmic reticulum membrane;Peripheral membrane protein endoplasmic reticulum membrane GO:0005789 SL-0097 Y Y ECO:0000311 UniProtKB AAP, DGA 2/6/2013 143 3300008933 Rose P35354 5743 PTGS2 Homo sapiens 9606 Comment/subcellular location Microsome membrane;Peripheral membrane protein intracellular membrane-bounded organelle GO:0043231 SL-0165 Y Y ECO:0000311 UniProtKB Microsome obsolete GO term AAP, DGA 2/6/2013 143 3300008934 Rose P35354 5743 PTGS2 Homo sapiens 9606 EC 1.14.99.1 Y Y ECO:0000311 EC number UniProtKB AAP, DGA 2/6/2013 143 3300008935 Mike O14975 11001 SLC27A2 Homo sapiens 9606 Comment/subcellular location Peripheral membrane associated with the lumenal side of peroxisomes. extrinsic component of intraperoxisomal membrane GO:0005780 Y Y ECO:0000311 UniProtKB more specific than existing GO term AAP 2/6/2013 106 3300008937 Mike O14975 11001 SLC27A2 Homo sapiens 9606 Comment/subcellular location Endoplasmic reticulum membrane;Multi-pass membrane protein integral component of endoplasmic reticulum membrane GO:0030176 SL-0097 Y Y ECO:0000311 UniProtKB more specific than existing GO term AAP 2/6/2013 106 3300008938 Mike O14975 11001 SLC27A2 Homo sapiens 9606 Comment/tissue specificity Expressed in liver, kidney, placenta and pancreas. kidney BTO:0000671 Y Y ECO:0000006 PubMed:10198260 UniProtKB AAP 2/6/2013 106 3300008940 Mike O14975 11001 SLC27A2 Homo sapiens 9606 Comment/tissue specificity Expressed in liver, kidney, placenta and pancreas. kidney UBERON:0002113 Y Y ECO:0000006 PubMed:10198260 UniProtKB AAP 2/6/2013 106 3300008941 Mike O14975 11001 SLC27A2 Homo sapiens 9606 Comment/tissue specificity Expressed in liver, kidney, placenta and pancreas. liver BTO:0000759 Y Y ECO:0000006 PubMed:10198260 UniProtKB AAP 2/6/2013 106 3300008942 Mike O14975 11001 SLC27A2 Homo sapiens 9606 Comment/tissue specificity Expressed in liver, kidney, placenta and pancreas. liver UBERON:0002107 Y Y ECO:0000006 PubMed:10198260 UniProtKB AAP 2/6/2013 106 3300008943 Mike O14975 11001 SLC27A2 Homo sapiens 9606 Comment/tissue specificity Expressed in liver, kidney, placenta and pancreas. pancreas BTO:0000988 Y Y ECO:0000006 PubMed:10198260 UniProtKB AAP 2/6/2013 106 3300008944 Mike O14975 11001 SLC27A2 Homo sapiens 9606 Comment/tissue specificity Expressed in liver, kidney, placenta and pancreas. pancreas UBERON:0001264 Y Y ECO:0000006 PubMed:10198260 UniProtKB AAP 2/6/2013 106 3300008945 Mike O14975 11001 SLC27A2 Homo sapiens 9606 Comment/tissue specificity Expressed in liver, kidney, placenta and pancreas. placenta BTO:0001078 Y Y ECO:0000006 PubMed:10198260 UniProtKB AAP 2/6/2013 106 3300008946 Mike O14975 11001 SLC27A2 Homo sapiens 9606 Comment/tissue specificity Expressed in liver, kidney, placenta and pancreas. placenta UBERON:0001987 Y Y ECO:0000006 PubMed:10198260 UniProtKB AAP 2/6/2013 106 3300008947 Mike O14975 11001 SLC27A2 Homo sapiens 9606 EC 6.2.1.- Y Y ECO:0000311 EC number UniProtKB This EC code describes a class of reactions. AAP 2/6/2013 106 3300008948 Rose P35610 6646 SOAT1 Homo sapiens 9606 EC 2.3.1.26 Y Y ECO:0000311 EC number UniProtKB AAP 2/6/2013 124 3300008952 Rose P21731 6915 TBXA2R Homo sapiens 9606 Comment/function Receptor for thromboxane A2 (TXA2), a potent stimulator of platelet aggregation. The activity of this receptor is mediated by a G-protein that activates a phosphatidylinositol-calcium second messenger system. In the kidney, the binding of TXA2 to glomerular TP receptors causes intense vasoconstriction. Activates phospholipase C. Isoform 1 activates adenylyl cyclase. Isoform 2 inhibits adenylyl cyclase. kidney BTO:0000671 Y Y ECO:0000006 PubMed:8613548 UniProtKB Tissue info not necessariy linked to PMID source. AAP, DGA 1/9/2013 138 3300008953 Rose P21731 6915 TBXA2R Homo sapiens 9606 Comment/function Receptor for thromboxane A2 (TXA2), a potent stimulator of platelet aggregation. The activity of this receptor is mediated by a G-protein that activates a phosphatidylinositol-calcium second messenger system. In the kidney, the binding of TXA2 to glomerular TP receptors causes intense vasoconstriction. Activates phospholipase C. Isoform 1 activates adenylyl cyclase. Isoform 2 inhibits adenylyl cyclase. kidney UBERON:0002113 Y Y ECO:0000006 PubMed:8613548 UniProtKB Tissue info not necessariy linked to PMID source. AAP, DGA 1/9/2013 138 3300008954 Rose P21731 6915 TBXA2R Homo sapiens 9606 Comment/Involvement in disease Bleeding disorder, platelet-type 13 (BDPLT13) [MIM:614009]: A disorder characterized by reduced platelet aggregation and a tendency to mild mucocutaneous bleeding. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. MIM:614009 blood platelet disease DOID:2218 Disease susceptibility is associated with variations affecting the gene represented in this entry. Y Y ECO:0000006 PubMed:8613548 PubMed:7929844 UniProtKB AAP, DGA 5/1/2013 141 3300008955 Rose P21731 6915 TBXA2R Homo sapiens 9606 Comment/Involvement in disease Bleeding disorder, platelet-type 13 (BDPLT13) [MIM:614009]: A disorder characterized by reduced platelet aggregation and a tendency to mild mucocutaneous bleeding. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. MIM:614009 Platelet disorder SNOMEDCT:22716005 Disease susceptibility is associated with variations affecting the gene represented in this entry. Y Y ECO:0000006 PubMed:8613548 PubMed:7929844 UniProtKB AAP, DGA 5/1/2013 141 3300008956 Rose P21731 6915 TBXA2R Homo sapiens 9606 Comment/subcellular location Cell membrane;Multi-pass membrane protein plasma membrane GO:0005886 SL-0039 Y Y ECO:0000311 UniProtKB AAP, DGA 1/9/2013 138 3300008958 Rose P24557 6916 TBXAS1 Homo sapiens 9606 Comment/Involvement in disease Ghosal hematodiaphyseal dysplasia (GHDD) [MIM:231095]: Rare autosomal recessive disorder characterized by increased bone density with predominant diaphyseal involvement and aregenerative corticosteroid-sensitive anemia. Aregenerative anemia is characterized by bone marrow failure, so that functional marrow cells are regenerated slowly or not at all. Note=The disease is caused by mutations affecting the gene represented in this entry. MIM:231095 bone disease DOID:0080001 The disease is caused by mutations affecting the gene represented in this entry. Y Y ECO:0000006 PubMed:6101498 PubMed:18264100 UniProtKB HDO term more general than OMIM. AAP, DGA 5/1/2013 150 3300008960 Rose P24557 6916 TBXAS1 Homo sapiens 9606 Comment/Involvement in disease Thromboxane synthetase deficiency (TBXAS1 deficiency) [MIM:274180]: Characterized by hemorrhagic diathesis. Note=The disease is caused by mutations affecting the gene represented in this entry. MIM:274180 blood platelet disease DOID:2218 The disease is caused by mutations affecting the gene represented in this entry. Y Y ECO:0000006 PubMed:6101498 UniProtKB AAP, DGA 5/1/2013 150 3300008961 Rose P24557 6916 TBXAS1 Homo sapiens 9606 Comment/Involvement in disease Thromboxane synthetase deficiency (TBXAS1 deficiency) [MIM:274180]: Characterized by hemorrhagic diathesis. Note=The disease is caused by mutations affecting the gene represented in this entry. MIM:274180 Thromboxane synthetase deficiency SNOMEDCT:234477002 The disease is caused by mutations affecting the gene represented in this entry. Y Y ECO:0000006 PubMed:6101498 UniProtKB AAP, DGA 5/1/2013 150 3300008962 Rose P24557 6916 TBXAS1 Homo sapiens 9606 Comment/subcellular location Endoplasmic reticulum membrane;Multi-pass membrane protein endoplasmic reticulum membrane GO:0005789 SL-0097 Y Y ECO:0000311 UniProtKB AAP, DGA 2/6/2013 147 3300008964 Rose P24557 6916 TBXAS1 Homo sapiens 9606 Comment/tissue specificity Platelets, lung, kidney, spleen, macrophages and lung fibroblasts. lung fibroblast BTO:0000764 Y Y ECO:0000311 UniProtKB No Uberon term AAP, DGA 2/6/2013 147 3300008965 Rose P24557 6916 TBXAS1 Homo sapiens 9606 Comment/tissue specificity Platelets, lung, kidney, spleen, macrophages and lung fibroblasts. macrophage BTO:0000801 Y Y ECO:0000311 UniProtKB No Uberon term AAP, DGA 2/6/2013 147 3300008966 Rose P24557 6916 TBXAS1 Homo sapiens 9606 Comment/tissue specificity Platelets, lung, kidney, spleen, macrophages and lung fibroblasts. blood platelet BTO:0000132 Y Y ECO:0000311 UniProtKB No Uberon term (only parent term blood) AAP, DGA 2/6/2013 147 3300008967 Rose P24557 6916 TBXAS1 Homo sapiens 9606 Comment/tissue specificity Platelets, lung, kidney, spleen, macrophages and lung fibroblasts. blood UBERON:0000178 Y Y ECO:0000311 UniProtKB No Uberon term (only parent term blood) AAP, DGA 2/6/2013 147 3300008968 Rose P24557 6916 TBXAS1 Homo sapiens 9606 Comment/tissue specificity Platelets, lung, kidney, spleen, macrophages and lung fibroblasts. kidney BTO:0000671 Y Y ECO:0000311 UniProtKB AAP, DGA 2/6/2013 147 3300008969 Rose P24557 6916 TBXAS1 Homo sapiens 9606 Comment/tissue specificity Platelets, lung, kidney, spleen, macrophages and lung fibroblasts. kidney UBERON:0002113 Y Y ECO:0000311 UniProtKB AAP, DGA 2/6/2013 147 3300008970 Rose P24557 6916 TBXAS1 Homo sapiens 9606 Comment/tissue specificity Platelets, lung, kidney, spleen, macrophages and lung fibroblasts. lung BTO:0000763 Y Y ECO:0000311 UniProtKB AAP, DGA 2/6/2013 147 3300008971 Rose P24557 6916 TBXAS1 Homo sapiens 9606 Comment/tissue specificity Platelets, lung, kidney, spleen, macrophages and lung fibroblasts. lung UBERON:0002048 Y Y ECO:0000311 UniProtKB AAP, DGA 2/6/2013 147 3300008972 Rose P24557 6916 TBXAS1 Homo sapiens 9606 Comment/tissue specificity Platelets, lung, kidney, spleen, macrophages and lung fibroblasts. spleen BTO:0001281 Y Y ECO:0000311 UniProtKB AAP, DGA 2/6/2013 147 3300008973 Rose P24557 6916 TBXAS1 Homo sapiens 9606 Comment/tissue specificity Platelets, lung, kidney, spleen, macrophages and lung fibroblasts. spleen UBERON:0002106 Y Y ECO:0000311 UniProtKB AAP, DGA 2/6/2013 147 3300008974 Rose P24557 6916 TBXAS1 Homo sapiens 9606 EC 5.3.99.5 Y Y ECO:0000311 EC number UniProtKB AAP, DGA 2/6/2013 147 3300008975 Faith P23219 5742 PTGS1 Homo sapiens 9606 Comment/tissue specificity Cox-1 protein and mRNA was detected in normal tissue with vascular EC and SMC (isolated from saphenous vein) vascular endothelial cell BTO:0001854 blood vessel endothelial cell CL:0000071 Y Y PubMed:10514410 PENTACON From review: Pubmed:16395396; From review: Pubmed:21508345 AAP, DGA 4/21/2014 3 3300008976 Faith P23219 5742 PTGS1 Homo sapiens 9606 Comment/tissue specificity Within the atherosclerotic lesion, PTGS1 and PTGS2 protein and mRNA colocalized with endothelial cells, smooth muscle cells (isolated from saphenous vein), and macrophages. Protein staining signal was brightest macrophage. By western blot, PTGS2 was not detectable in EC or SMC. vascular endothelial cell BTO:0001854 blood vessel endothelial cell CL:0000071 atherosclerosis DOID: 1936 Y Y PubMed:10514410 PENTACON From review: Pubmed:16395396; From review: Pubmed:21508345 AAP, DGA 4/21/2014 3 3300008977 Faith P23219 5742 PTGS1 Homo sapiens 9606 Comment/tissue specificity Within the atherosclerotic lesion, PTGS1 and PTGS2 protein and mRNA colocalized with endothelial cells, smooth muscle cells (isolated from saphenous vein), and macrophages. Protein staining signal was brightest macrophage. By western blot, PTGS2 was not detectable in EC or SMC. vascular smooth muscle cell BTO:0004578 vascular associated smooth muscle cell CL:0000359 atherosclerosis DOID: 1936 Y Y PubMed:10514410 PENTACON From review: Pubmed:16395396; From review: Pubmed:21508345 AAP, DGA 4/21/2014 3 3300008978 Faith P23219 5742 PTGS1 Homo sapiens 9606 Comment/tissue specificity Within the atherosclerotic lesion, PTGS1 and PTGS2 protein and mRNA colocalized with endothelial cells, smooth muscle cells (isolated from saphenous vein), and macrophages. Protein staining signal was brightest macrophage. By western blot, PTGS2 was not detectable in EC or SMC. macrophage BTO:0000801 macrophage CL:0000235 atherosclerosis DOID: 1936 Y Y PubMed:10514410 PENTACON From review: Pubmed:16395396; From review: Pubmed:21508345 AAP, DGA 4/21/2014 3 3300008979 Faith P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity Within the atherosclerotic lesion, PTGS1 and PTGS2 protein and mRNA colocalized with endothelial cells, smooth muscle cells (isolated from saphenous vein), and macrophages. Protein staining signal was brightest macrophage. By western blot, PTGS2 was not detectable in EC or SMC. vascular endothelial cell BTO:0001854 blood vessel endothelial cell CL:0000071 atherosclerosis DOID: 1936 Y Y PubMed:10514410 PENTACON From review: Pubmed:16395396; From review: Pubmed:21508345 AAP, DGA 4/21/2014 3 3300008980 Faith P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity Within the atherosclerotic lesion, PTGS1 and PTGS2 protein and mRNA colocalized with endothelial cells, smooth muscle cells (isolated from saphenous vein), and macrophages. Protein staining signal was brightest macrophage. By western blot, PTGS2 was not detectable in EC or SMC. vascular smooth muscle cell BTO:0004578 vascular associated smooth muscle cell CL:0000359 atherosclerosis DOID: 1936 Y Y PubMed:10514410 PENTACON From review: Pubmed:16395396; From review: Pubmed:21508345 AAP, DGA 4/21/2014 3 3300008981 Faith P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity Within the atherosclerotic lesion, PTGS1 and PTGS2 protein and mRNA colocalized with endothelial cells, smooth muscle cells (isolated from saphenous vein), and macrophages. Protein staining signal was brightest macrophage. By western blot, PTGS2 was not detectable in EC or SMC. macrophage BTO:0000801 macrophage CL:0000235 atherosclerosis DOID: 1936 Y Y PubMed:10514410 PENTACON From review: Pubmed:16395396; From review: Pubmed:21508345 AAP, DGA 4/21/2014 3 3300008982 Faith P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity PTGS2 protein expression was induced in vascular endothelial cells (isolated from athersclerotic lesions) cultured for 24 hours in the presence of recombinant human CD 40 ligand (10 ug/ml) vascular endothelial cell BTO:0001854 blood vessel endothelial cell CL:0000071 atherosclerosis DOID: 1936 Y Y PubMed:10514410 PENTACON From review: Pubmed:16395396; From review: Pubmed:21508345; inducible:recombinant human CD 40 ligand AAP, DGA 4/21/2014 3 3300008983 Faith P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity PTGS2 protein expression was induced in vascular endothelial cells (isolated from athersclerotic lesions) cultured for 24 hours in the presence of IL-1beta (10 ng/ml) and TNFalpha (50 ng/ml) vascular endothelial cell BTO:0001854 blood vessel endothelial cell CL:0000071 atherosclerosis DOID: 1936 Y Y PubMed:10514410 PENTACON From review: Pubmed:16395396; From review: Pubmed:21508345 inducible:IL-1beta, TNFalpha AAP, DGA 4/21/2014 3 3300008984 Katie/Faith P42330 8644 AKR1C3 Homo sapiens 9606 Comment/tissue specificity AKR1C3 mRNA was detected in HAECs, HUVECs, and HMVECs aortic endothelial cell BTO:0003245 aortic endothelial cell CL:0002544 Y Y PubMed:19442656 PENTACON AAP 4/21/2014 3 3300008985 Katie/Faith P42330 8644 AKR1C3 Homo sapiens 9606 Comment/tissue specificity AKR1C3 mRNA was detected in HAECs, HUVECs, and HMVECs HUVEC cell BTO:0001949 endothelial cell of umbilical vein CL:0002618 Y Y PubMed:19442656 PENTACON AAP 4/21/2014 3 3300008986 Katie/Faith P42330 8644 AKR1C3 Homo sapiens 9606 Comment/tissue specificity AKR1C3 mRNA was detected in HAECs, HUVECs, and HMVECs microvascular endothelial cell BTO:0003123 blood vessel endothelial cell CL:0000071 Y Y PubMed:19442656 PENTACON AAP 4/21/2014 3 3300008987 Katie/Faith P18054 239 ALOX12 Homo sapiens 9606 Comment/tissue specificity 12-LOX mRNA and protein was detected in HUVECs and HMVECs HUVEC cell BTO:0001949 endothelial cell of umbilical vein CL:0002618 Y Y Pubmed:10733500 PENTACON AAP, DGA 4/21/2014 3 3300008988 Katie/Faith P18054 239 ALOX12 Homo sapiens 9606 Comment/tissue specificity 12-LOX mRNA and protein was detected in HUVECs and HMVECs microvascular endothelial cell BTO:0003123 blood vessel endothelial cell CL:0000071 Y Y Pubmed:10733500 PENTACON AAP, DGA 4/21/2014 3 3300008989 Faith P21731 6915 TBXA2R Homo sapiens 9606 Comment/tissue specificity Isoform: P21731-2;Isoform 2;Beta blood platelet BTO:0000132 platelet CL:0000233 Y Y PubMed:8613548 PENTACON AAP, DGA 4/21/2014 3 3300008990 Faith P21731 6915 TBXA2R Homo sapiens 9606 Comment/tissue specificity Isoform: P21731-3;Isoform 1;Alpha blood platelet BTO:0000132 platelet CL:0000233 Y Y PubMed:8613548 PENTACON AAP, DGA 4/21/2014 3 3300008991 Katie P24752 38 ACAT1 Homo sapiens 9606 Comment/tissue specificity ACAT1 is expressed in macrophages in atherosclerotic lesions and in cultured monocytes-macrophages macrophage BTO:0000801 macrophage CL:0000235 Y Y PubMed:9763528 PENTACON AAP, DGA 4/21/2014 3 3300008992 Katie P33121 2180 ACSL1 Homo sapiens 9606 Comment/tissue specificity Expressed in macrophages and upregulated by M1 polarization macrophage BTO:0000801 macrophage CL:0000235 Y Y PubMed:22308341 PENTACON AAP 4/21/2014 3 3300008993 Katie P33121 2180 ACSL1 Homo sapiens 9606 Comment/tissue specificity ACSL1 mRNA and protein was detected in human macrophages macrophage BTO:0000801 macrophage CL:0000235 Y Y Pubmed:17259370 PENTACON AAP 4/21/2014 3 3300008994 Katie O95573 2181 ACSL3 Homo sapiens 9606 Comment/tissue specificity ACSL3 mRNA was detected in human macrophages macrophage BTO:0000801 macrophage CL:0000235 Y Y Pubmed:17259370 PENTACON AAP 4/21/2014 3 3300008995 Katie/Faith Q9ULC5 51703 ACSL5 Homo sapiens 9606 Comment/tissue specificity ACSL5 mRNA was detected at a low level in human macrophages macrophage BTO:0000801 macrophage CL:0000235 Y Y Pubmed:17259370 PENTACON AAP 4/21/2014 3 3300008996 Faith O14684 9536 PTGES Homo sapiens 9606 Comment/tissue specificity PTGES expression (mRNA and protein) was induced by all-trans retinoic acid in macrophages derived from isolated CD14++ monocytes by treatment with macrophage colony stimulation factor macrophage BTO:0000801 macrophage CL:0000235 Y Y PubMed:22204820 PENTACON inducible:all-trans retinoic acid AAP, DGA 4/21/2014 3 3300008997 Faith O14684 9536 PTGES Homo sapiens 9606 Comment/tissue specificity PTGES expression (protein) was induced by all-trans retinoic acid + LPS in macrophages derived from isolated CD14++ monocytes by treatment with macrophage colony stimulation factor macrophage BTO:0000801 macrophage CL:0000235 Y Y PubMed:22204820 PENTACON inducible:all-trans retinoic acid + LPS AAP, DGA 4/21/2014 3 3300008998 Faith P23219 5742 PTGS1 Homo sapiens 9606 Comment/tissue specificity PTGS1 protein was detected in macrophage (derived from peripheral blood monocytes, 1, 3,9 days culture). After 3 and, more markedly, after 9 days of in vitro culture, a constitutively expressed second Cox-1 protein was detected with an molecular weight of approximately 50 kd macrophage BTO:0000801 macrophage CL:0000235 Y Y PubMed:10514410 PENTACON From review: Pubmed:16395396; From review: Pubmed:21508345 AAP, DGA 4/21/2014 3 3300008999 Faith P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity PTGS2 protein was induced in macrophage (derived from peripheral blood monocytes, 1, 3,9 days culture) cultured in the presence of LPS (100 ng/ml). Inducibility of the 70-kd form diminishes with increased time in culture of the macrophage. The lower molecular weight form rose with time of culture (but does not appear to be inducible) macrophage BTO:0000801 macrophage CL:0000235 Y Y PubMed:10514410 PENTACON From review: Pubmed:16395396; From review: Pubmed:21508345; inducible:LPS AAP, DGA 4/21/2014 3 3300009000 Faith P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity PTGS2 protein expression was induced in macrophage (isolated from athersclerotic lesions) cultured for 24 hours in the presence of recombinant human CD 40 ligand (10 ug/ml) macrophage BTO:0000801 macrophage CL:0000235 atherosclerosis DOID: 1936 Y Y PubMed:10514410 PENTACON From review: Pubmed:16395396; From review: Pubmed:21508345; inducible:recombinant human CD 40 ligand AAP, DGA 4/21/2014 3 3300009001 Katie/Faith O15439 10257 ABCC4 Homo sapiens 9606 Comment/tissue specificity Protein detected in endothelial cells and vascular smooth muscle cells of human coronary arteries coronary artery smooth muscle cell BTO:0005101 smooth muscle cell of the coronary artery CL:0002592 Y Y PubMed:15297306 PENTACON AAP 4/21/2014 3 3300009002 Katie/Faith P33121 2180 ACSL1 Homo sapiens 9606 Comment/tissue specificity ACSL1 mRNA and protein was detected in human aortic smooth muscle cells aortic smooth muscle BTO:0001685 aortic smooth muscle cell CL:0002539 Y Y Pubmed:21242590 Pubmed:17259370 PENTACON AAP 4/21/2014 3 3300009003 Katie/Faith O95573 2181 ACSL3 Homo sapiens 9606 Comment/tissue specificity ACSL3 mRNA was detected in human aortic smooth muscle cells aortic smooth muscle BTO:0001685 aortic smooth muscle cell CL:0002539 Y Y Pubmed:17259370 PENTACON AAP 4/21/2014 3 3300009004 Katie/Faith O60488 2182 ACSL4 Homo sapiens 9606 Comment/tissue specificity ACSL4 splice variant 1 (NM_004458) was detected in cultured aortic smooth muscle cells aortic smooth muscle BTO:0001685 aortic smooth muscle cell CL:0002539 Y Y Pubmed:21242590 PENTACON Splice variant 1 (short) was more abundantly expressed than variant 2 (long) in aortic smooth muscle cells, also noted in IVM tab AAP 4/21/2014 3 3300009005 Faith P23219 5742 PTGS1 Homo sapiens 9606 Comment/tissue specificity Cox-1 protein and mRNA was detected in normal tissue with vascular EC and SMC (isolated from saphenous vein) vascular smooth muscle cell BTO:0004578 vascular associated smooth muscle cell CL:0000359 Y Y PubMed:10514410 PENTACON From review: Pubmed:16395396; From review: Pubmed:21508345 AAP, DGA 4/21/2014 3 3300009006 Faith P23219 5742 PTGS1 Homo sapiens 9606 Comment/tissue specificity There was a modest induction of PTGS1 mRNA [in human vascular smooth muscle cells treated with phorbol 12-myristate 13-acetate (20 ng/ml) for 4 h] vascular smooth muscle cell BTO:0004578 vascular associated smooth muscle cell CL:0000359 Y Y PubMed:1380156 PENTACON inducible: phorbol 12-myristate 13-acetate AAP, DGA 4/21/2014 3 3300009007 Faith P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity PTGS2 protein expression was induced in vascular smooth muscle cells (isolated from athersclerotic lesions) cultured for 24 hours in the presence of recombinant human CD 40 ligand (10 ug/ml) vascular smooth muscle cell BTO:0004578 vascular associated smooth muscle cell CL:0000359 atherosclerosis DOID: 1936 Y Y PubMed:10514410 PENTACON From review: Pubmed:16395396; From review: Pubmed:21508345; inducible:recombinant human CD 40 ligand AAP, DGA 4/21/2014 3 3300009008 Faith P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity PTGS2 mRNA was induced in human vascular smooth muscle cells treated with phorbol 12-myristate 13-acetate (20 ng/ml) for 4 h vascular smooth muscle cell BTO:0004578 vascular associated smooth muscle cell CL:0000359 Y Y PubMed:1380156 PENTACON inducible: phorbol 12-myristate 13-acetate AAP, DGA 4/21/2014 3 3300009009 Faith O60760 27306 HPGDS Homo sapiens 9606 Comment/tissue specificity HPGDS protein was detected on lymphocytes lymphocyte BTO:0000775 lymphocyte CL:0000542 Y Y PubMed:10679060 PENTACON AAP 4/21/2014 3 3300009010 Katie Q7L5N7 54947 LPCAT2 Homo sapiens 9606 Comment/tissue specificity Expression detected in human peripheral blood monocytes monocyte BTO:0000876 monocyte CL:0000576 Y Y Pubmed:20018618 PENTACON AAP 4/21/2014 3 3300009011 Katie Q6P1A2 10162 LPCAT3 Homo sapiens 9606 Comment/tissue specificity Expression detected in human peripheral blood monocytes monocyte BTO:0000876 monocyte CL:0000576 Y Y Pubmed:20018618 PENTACON AAP 4/21/2014 3 3300009012 Faith P23219 5742 PTGS1 Homo sapiens 9606 Comment/tissue specificity PTGS1 mRNA and protein (PubMed:10514410) was detected in monocytes (isolated from leukocyte-rich elutriates in PubMed:1380156) monocyte BTO:0000876 monocyte CL:0000576 Y Y PubMed:1380156 PubMed:8282809 PubMed:10514410 PENTACON AAP, DGA 4/21/2014 3 3300009013 Faith P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity PTGS2 mRNA expression was induced in monocytes (isolated from leukocyte-rich elutriates) by treatment with PMA (20 ng/ml) for 5 h monocyte BTO:0000876 monocyte CL:0000576 Y Y PubMed:1380156 PENTACON inducible: phorbol 12-myristate 13-acetate; cells assayed were separated from leukocytes AAP, DGA 4/21/2014 3 3300009014 Faith P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity PTGS2 mRNA expression was induced in monocytes (isolated from leukocyte-rich elutriates) by treatment with LPS (10 ug/ml) for 5 h monocyte BTO:0000876 monocyte CL:0000576 Y Y PubMed:1380156 PENTACON inducible: LPS; cells assayed were separated from leukocytes AAP, DGA 4/21/2014 3 3300009015 Faith P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity 24 h exposure to LPS (10 ug/ml) increased PTGS2 mRNA and protein expression in monocytes. monocyte BTO:0000876 monocyte CL:0000576 Y Y PubMed:8282809 PubMed:7929310 PENTACON inducible: LPS AAP, DGA 4/21/2014 3 3300009016 Faith Q13258 5729 PTGDR Homo sapiens 9606 Comment/tissue specificity mRNA detected by means of RT-PCR/Southern hybridization eosinophil BTO:0000399 eosinophil CL:0000771 Y Y PubMed:11742277 PENTACON AAP 4/21/2014 3 3300009017 Katie Q96N66 79143 MBOAT7 Homo sapiens 9606 Comment/tissue specificity Detected in human neutrophils neutrophil BTO:0000130 neutrophil CL:0000775 Y Y PubMed:18772128 PENTACON PubMed:18772128 also provides data regarding expression and activity of MBOAT5 in human neutrophils AAP 4/21/2014 3 3300009018 Faith O60760 27306 HPGDS Homo sapiens 9606 Comment/tissue specificity HPGDS mRNA and protein was detected in Th2 cells generated from PBMCs of healthy adults Th2-cell BTO:0001679 Tc2 cell CL:0000918 Y Y PubMed:10679060 PENTACON constitutive AAP 4/21/2014 3 3300009019 Faith P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity PTGS2 was detected in Th2 cells generated from PBMCs of healthy adults after stimulation with immobilized OKT3 and KOLT-2 (time course) Th2-cell BTO:0001679 Tc2 cell CL:0000918 Y Y PubMed:10679060 PENTACON inducible:OKT3,KOLT-2 AAP, DGA 4/21/2014 3 3300009020 Faith P41222 5730 PTGDS Homo sapiens 9606 Comment/tissue specificity Immunoreactivity was localized in both atrial and ventricular myocardial cells in immunostaining of human autopsy specimens with monoclonal or polyclonal antibodies against human L-PGDS parenchyma BTO:0001539 regular atrial cardiac myocyte CL:0002129 Y Y PubMed:9405674 PENTACON AAP, DGA 4/21/2014 3 3300009021 Faith P41222 5730 PTGDS Homo sapiens 9606 Comment/tissue specificity Immunoreactivity was localized in both atrial and ventricular myocardial cells in immunostaining of human autopsy specimens with monoclonal or polyclonal antibodies against human L-PGDS parenchyma BTO:0001539 regular ventricular cardiac myocyte CL:0002131 Y Y PubMed:9405674 PENTACON AAP, DGA 4/21/2014 3 3300009022 Faith P41222 5730 PTGDS Homo sapiens 9606 Comment/tissue specificity In high magnification, immunoreactivity of L-PGDS was detected in the cytoplasm of endocardial cells heart endothelial cell BTO:0004294 endocardial cell CL:0002350 Y Y PubMed:9405674 PENTACON early arteriosclerotic plaque in intima of coronary artery, ventricular endocardium, left & right coronary arteries, right ventricle, L-PGDS accumulates in the plasma during coronary circulation in patients with stable angina. AAP, DGA 4/21/2014 3 3300009023 Katie P15121 231 AKR1B1 Homo sapiens 9606 Comment/tissue specificity AKR1B1 mRNA was detected in HAECs aortic endothelial cell BTO:0003245 aortic endothelial cell CL:0002544 Y Y PubMed:19442656 PENTACON AAP, DGA 4/21/2014 3 3300009024 Katie P16152 873 CBR1 Homo sapiens 9606 Comment/tissue specificity CBR1 mRNA was detected in HAECs aortic endothelial cell BTO:0003245 aortic endothelial cell CL:0002544 Y Y PubMed:19442656 PENTACON AAP 4/21/2014 3 3300009025 Faith P23219 5742 PTGS1 Homo sapiens 9606 Comment/tissue specificity PTGS1 mRNA was detected in umbilical smooth muscle cells vascular smooth muscle cell BTO:0004578 smooth muscle cell of the umbilical artery CL:0002594 Y Y PubMed:9647328 PENTACON AAP, DGA 4/21/2014 3 3300009026 Faith P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity PTGS2 mRNA was detected in umbilical smooth muscle cells vascular smooth muscle cell BTO:0004578 smooth muscle cell of the umbilical artery CL:0002594 Y Y PubMed:9647328 PENTACON AAP, DGA 4/21/2014 3 3300009027 Faith P43088 5737 PTGFR Homo sapiens 9606 Comment/tissue specificity Isoform: P43088-2;Isoform 2;FP(S) HUVEC cell BTO:0001949 endothelial cell of umbilical vein CL:0002618 Y Y PubMed:14984197 PENTACON AAP 4/21/2014 3 3300009028 Katie/Faith O15439 10257 ABCC4 Homo sapiens 9606 Comment/tissue specificity Protein detected in endothelial cells and vascular smooth muscle cells of human coronary arteries arterial endothelial cell BTO:0004758 endothelial cell of artery CL:1000413 Y Y PubMed:15297306 PENTACON AAP 4/21/2014 3 3300009029 Faith P21731 6915 TBXA2R Homo sapiens 9606 Comment/tissue specificity Isoform: P21731-2;Isoform 2;Beta placenta BTO:0001078 Y Y PubMed:8034687 PENTACON AAP, DGA 4/21/2014 3 3300009030 Faith P21731 6915 TBXA2R Homo sapiens 9606 Comment/tissue specificity Isoform: P21731-2;Isoform 2;Beta placenta UBERON:0001987 Y Y PubMed:8034687 PENTACON AAP, DGA 4/21/2014 3 3300009031 Faith P21731 6915 TBXA2R Homo sapiens 9606 Comment/tissue specificity Isoform: P21731-3;Isoform 1;Alpha placenta BTO:0001078 Y Y PubMed:8034687 PENTACON AAP, DGA 4/21/2014 3 3300009032 Faith P21731 6915 TBXA2R Homo sapiens 9606 Comment/tissue specificity Isoform: P21731-3;Isoform 1;Alpha placenta UBERON:0001987 Y Y PubMed:8034687 PENTACON AAP, DGA 4/21/2014 3 3300009033 Faith Q16647 5740 PTGIS Homo sapiens 9606 Comment/tissue specificity PGIS was detected by immunofluorescence in cryostat sections of human liver smooth muscle cells of blood vessels from liver vascular smooth muscle cell BTO:0004578 Y Y PubMed:8034007 PENTACON AAP, DGA 4/21/2014 3 3300009034 Faith Q16647 5740 PTGIS Homo sapiens 9606 Comment/tissue specificity PGIS was detected by immunofluorescence in cryostat sections of human liver smooth muscle cells of blood vessels from liver vasculature of liver UBERON:0006877 Y Y PubMed:8034007 PENTACON AAP, DGA 4/21/2014 3 3300009035 Katie/Faith P24752 38 ACAT1 Homo sapiens 9606 Comment/tissue specificity ACAT1 is upregulated in atherosclerotic plaque compared to healthy arteries. Pubmed:9763528 suggests that this is due to high expression in infiltrating macrophages. artery BTO:0000573 atherosclerosis DOID: 1936 Atherosclerosis SNOMEDCT:195251000 Y Y PubMed:15961705 PubMed:9763528 PENTACON Upregulated in atherosclerotic plaque AAP, DGA 4/21/2014 3 3300009036 Katie/Faith P24752 38 ACAT1 Homo sapiens 9606 Comment/tissue specificity ACAT1 is upregulated in atherosclerotic plaque compared to healthy arteries. Pubmed:9763528 suggests that this is due to high expression in infiltrating macrophages. artery UBERON:0001637 atherosclerosis DOID: 1936 Atherosclerosis SNOMEDCT:195251000 Y Y PubMed:15961705 PubMed:9763528 PENTACON Upregulated in atherosclerotic plaque AAP, DGA 4/21/2014 3 3300009037 Katie/Faith P24752 38 ACAT1 Homo sapiens 9606 Comment/tissue specificity ACAT1 is upregulated in atherosclerotic plaque compared to healthy arteries. Pubmed:9763528 suggests that this is due to high expression in infiltrating macrophages. artery BTO:0000573 Y Y PubMed:15961705 PubMed:9763528 PENTACON AAP, DGA 4/21/2014 3 3300009038 Katie/Faith P24752 38 ACAT1 Homo sapiens 9606 Comment/tissue specificity ACAT1 is upregulated in atherosclerotic plaque compared to healthy arteries. Pubmed:9763528 suggests that this is due to high expression in infiltrating macrophages. artery UBERON:0001637 Y Y PubMed:15961705 PubMed:9763528 PENTACON AAP, DGA 4/21/2014 3 3300009039 Faith P09917 240 ALOX5 Homo sapiens 9606 Comment/tissue specificity ALOX5 mRNA was detected in tunica mediae of umbilical cord artery umbilical artery BTO:0000841 Y Y PubMed:9647328 PENTACON AAP, DGA 4/21/2014 3 3300009040 Faith P09917 240 ALOX5 Homo sapiens 9606 Comment/tissue specificity ALOX5 mRNA was detected in tunica mediae of umbilical cord artery umbilical artery UBERON:0001310 Y Y PubMed:9647328 PENTACON AAP, DGA 4/21/2014 3 3300009041 Faith P09917 240 ALOX5 Homo sapiens 9606 Comment/tissue specificity ALOX5 mRNA was detected in tunica mediae of umbilical cord vein umbilical vein BTO:0001509 Y Y PubMed:9647328 PENTACON AAP, DGA 4/21/2014 3 3300009042 Faith P09917 240 ALOX5 Homo sapiens 9606 Comment/tissue specificity ALOX5 mRNA was detected in tunica mediae of umbilical cord vein umbilical vein UBERON:0002066 Y Y PubMed:9647328 PENTACON AAP, DGA 4/21/2014 3 3300009043 Rose Q96P68 27199 OXGR1 Homo sapiens 9606 Comment/subcellular location Cell membrane;Multi-pass membrane protein plasma membrane GO:0005886 SL-0039 Y Y UniProtKB AAP 9/18/2013 100 3300009044 Rose Q96P68 27199 OXGR1 Homo sapiens 9606 Comment/tissue specificity Detected in kidney and, to a lower extend, in placenta. Not detected in brain tissues including the frontal cortex, caudate putamen, thalamus, hypothalamus, hippocampus or pons. kidney BTO:0000671 Y Y UniProtKB AAP 9/18/2013 100 3300009045 Rose Q96P68 27199 OXGR1 Homo sapiens 9606 Comment/tissue specificity Detected in kidney and, to a lower extend, in placenta. Not detected in brain tissues including the frontal cortex, caudate putamen, thalamus, hypothalamus, hippocampus or pons. kidney UBERON:0002113 Y Y UniProtKB AAP 9/18/2013 100 3300009046 Rose/Faith Q96P68 27199 OXGR1 Homo sapiens 9606 Comment/tissue specificity Detected in kidney and, to a lower extend, in placenta. Not detected in brain tissues including the frontal cortex, caudate putamen, thalamus, hypothalamus, hippocampus or pons. placenta BTO:0001078 Y Y UniProtKB AAP 9/18/2013 100 3300009047 Rose/Faith Q96P68 27199 OXGR1 Homo sapiens 9606 Comment/tissue specificity Detected in kidney and, to a lower extend, in placenta. Not detected in brain tissues including the frontal cortex, caudate putamen, thalamus, hypothalamus, hippocampus or pons. placenta UBERON:0001987 Y Y UniProtKB AAP 9/18/2013 100 3300009048 Rose Q96P68 27199 OXGR1 Homo sapiens 9606 Comment/tissue specificity Detected in kidney and, to a lower extend, in placenta. Not detected in brain tissues including the frontal cortex, caudate putamen, thalamus, hypothalamus, hippocampus or pons. Y Y UniProtKB AAP 9/18/2013 100 3300009049 Katie Q9Y5Y4 11251 PTGDR2 Homo sapiens 9606 Comment/tissue specificity Widespread expression. High expression in stomach, small intestine, heart and thymus. Intermediate expression in colon, spinal cord and peripheral blood and low expression in brain, skeletal muscle and spleen. Expressed also on Th2- and Tc2- type cells, eosinophils and basophils. eosinophil BTO:0000399 Y Y ECO:0000006 PubMed:11208866 PubMed:9973380 PubMed:11168006 PubMed:12466225 PubMed:11742277 UniProtKB No Uberon term AAP 1/9/2013 102 3300009050 Faith P41222 5730 PTGDS Homo sapiens 9606 Comment/tissue specificity Immunoreactivity for L-PGDS was also observed in the endocardium and diffusely found in the extracellular matrix of the endocardium endocardium BTO:0000387 Y Y PubMed:9405674 PENTACON AAP, DGA 4/21/2014 3 3300009051 Faith P41222 5730 PTGDS Homo sapiens 9606 Comment/tissue specificity Immunoreactivity for L-PGDS was also observed in the endocardium and diffusely found in the extracellular matrix of the endocardium endocardium UBERON:0002165 Y Y PubMed:9405674 PENTACON AAP, DGA 4/21/2014 3 3300009052 Faith P41222 5730 PTGDS Homo sapiens 9606 Comment/tissue specificity In PBMC isolated from healthy male donors, PTGDS expression (mRNA) was induced by 7beta-hydroxy-DHEA (1 nM after 24 h and 100 nM after 4 and 24 h) peripheral blood mononuclear cell BTO:0001025 Y Y PubMed:18555503 PENTACON inducible:7beta-hydroxy-DHEA AAP, DGA 4/21/2014 3 3300009053 Faith P41222 5730 PTGDS Homo sapiens 9606 Comment/tissue specificity In PBMC isolated from healthy male donors, PTGDS expression (mRNA) was induced by 7beta-hydroxy-EpiA (1 and 10 nM) after 4 h peripheral blood mononuclear cell BTO:0001025 Y Y PubMed:18555503 PENTACON inducible:7beta-hydroxy-EpiA AAP, DGA 4/21/2014 3 3300009054 Faith O14684 9536 PTGES Homo sapiens 9606 Comment/tissue specificity A low hybridization signal was detected in heart by Northern dot blot analysis heart BTO:0000562 Y Y PubMed:10377395 PENTACON This paper looked at many tissues AAP, DGA 4/21/2014 3 3300009055 Faith O14684 9536 PTGES Homo sapiens 9606 Comment/tissue specificity A low hybridization signal was detected in heart by Northern dot blot analysis heart UBERON:0000948 Y Y PubMed:10377395 PENTACON This paper looked at many tissues AAP, DGA 4/21/2014 3 3300009056 Faith O14684 9536 PTGES Homo sapiens 9606 Comment/tissue specificity IL-1beta up-regulated PTGES expression in terms of mRNA and protein in microvascular endothelial cells released from human foreskin (up-regulation as a function of time was studied). PTGES was detected by histology in microvascular endothelium. microvascular endothelial cell BTO:0003123 Y Y PubMed:21277871 PENTACON inducible:IL-1beta AAP, DGA 4/21/2014 3 3300009057 Faith O14684 9536 PTGES Homo sapiens 9606 Comment/tissue specificity Tumor cells conditioned media induced PTGES mRNA and protein levels in a time-dependent manner microvascular endothelial cell BTO:0003123 Y Y PubMed:21277871 PENTACON inducible:tumor cells conditioned media AAP, DGA 4/21/2014 3 3300009058 Faith O14684 9536 PTGES Homo sapiens 9606 Comment/tissue specificity PTGES proteins, scarcely expressed in the microsomal fraction, were strongly induced by IL-1beta in vascular smooth muscle cells isolated from aorta (mRNA and protein, time course study) aortic smooth muscle cell BTO:0004577 Y Y PubMed:17403097 PENTACON inducible:IL-1beta AAP, DGA 4/21/2014 3 3300009059 Faith O14684 9536 PTGES Homo sapiens 9606 Comment/tissue specificity In PBMC isolated from healthy male donors, PTGES expression (mRNA) was induced by 7alpha-hydroxy-DHEA (1, 10, and 100 nM) after 24 h exposure peripheral blood mononuclear cell BTO:0001025 Y Y PubMed:18555503 PENTACON inducible:7alpha-hydroxy-DHEA AAP, DGA 4/21/2014 3 3300009060 Faith O14684 9536 PTGES Homo sapiens 9606 Comment/tissue specificity In PBMC isolated from healthy male donors, PTGES expression (mRNA and protein) was induced by TNF-alpha (10 ng/mL) after 4 and 24 h exposure peripheral blood mononuclear cell BTO:0001025 Y Y PubMed:18555503 PENTACON inducible:TNF-alpha AAP, DGA 4/21/2014 3 3300009061 Faith O14684 9536 PTGES Homo sapiens 9606 Comment/tissue specificity In PBMC isolated from healthy male donors, PTGES expression (mRNA) was induced by 7alpha-hydroxy-DHEA (1, 10, and 100 nM) + TNF-alpha (10 ng/mL) after 24 h exposure peripheral blood mononuclear cell BTO:0001025 Y Y PubMed:18555503 PENTACON inducible:7alpha-hydroxy-DHEA + TNF-alpha AAP, DGA 4/21/2014 3 3300009062 Faith O14684 9536 PTGES Homo sapiens 9606 Comment/tissue specificity In PBMC isolated from healthy male donors, PTGES expression (mRNA) was induced by 7beta-hydroxy-DHEA (1, 10, and 100 nM) after 24 h exposure peripheral blood mononuclear cell BTO:0001025 Y Y PubMed:18555503 PENTACON inducible:7beta-hydroxy-DHEA AAP, DGA 4/21/2014 3 3300009063 Faith O14684 9536 PTGES Homo sapiens 9606 Comment/tissue specificity In PBMC isolated from healthy male donors, PTGES expression (mRNA) was induced by 7beta-hydroxy-DHEA (1, 10, and 100 nM) + TNF-alpha (10 ng/mL) after 24 h exposure peripheral blood mononuclear cell BTO:0001025 Y Y PubMed:18555503 PENTACON inducible:7beta-hydroxy-DHEA + TNF-alpha AAP, DGA 4/21/2014 3 3300009064 Faith O14684 9536 PTGES Homo sapiens 9606 Comment/tissue specificity In PBMC isolated from healthy male donors, PTGES expression (mRNA) was induced by 7beta-hydroxy-EpiA (1, 10, and 100 nM) after 24 h exposure peripheral blood mononuclear cell BTO:0001025 Y Y PubMed:18555503 PENTACON inducible:7beta-hydroxy-EpiA AAP, DGA 4/21/2014 3 3300009065 Faith O14684 9536 PTGES Homo sapiens 9606 Comment/tissue specificity PTGES mRNA was upregulated in HUVEC after 4 hr bradykinin (10 nM) exposure HUVEC cell BTO:0001949 Y Y PubMed:11208485 PENTACON inducible:bradykinin; in the paper, the authors use inducible PGE-S to refer to the gene. BLASTing the primers used to amplify PGE-S identified PTGES AAP, DGA 4/21/2014 3 3300009066 Faith Q9H7Z7 80142 PTGES2 Homo sapiens 9606 Comment/tissue specificity PTGES2 was expressed constitutively (mRNA and protein) in microvascular endothelial cells released from human foreskin (up-regulation as a function of time was studied) microvascular endothelial cell BTO:0003123 Y Y PubMed:21277871 PENTACON AAP 4/21/2014 3 3300009067 Faith Q9H7Z7 80142 PTGES2 Homo sapiens 9606 Comment/tissue specificity PTGES2 proteins were expressed in the microsomal fraction in resting vascular smooth muscle cells isolated from aorta aortic smooth muscle cell BTO:0004577 Y Y PubMed:17403097 PENTACON AAP 4/21/2014 3 3300009068 Faith Q15185 10728 PTGES3 Homo sapiens 9606 Comment/tissue specificity PTGES3 was expressed constitutively (mRNA and protein) in microvascular endothelial cells released from human foreskin (up-regulation as a function of time was studied) microvascular endothelial cell BTO:0003123 Y Y PubMed:21277871 PENTACON AAP 4/21/2014 3 3300009069 Faith Q15185 10728 PTGES3 Homo sapiens 9606 Comment/tissue specificity PTGES3 proteins were expressed in the cytosolic fraction in resting vascular smooth muscle cells isolated from aorta aortic smooth muscle cell BTO:0004577 Y Y PubMed:17403097 PENTACON AAP 4/21/2014 3 3300009070 Faith P43088 5737 PTGFR Homo sapiens 9606 Comment/tissue specificity Isoform: P43088-1;Isoform 1 heart BTO:0000562 Y Y PubMed:14984197 PENTACON AAP 4/21/2014 3 3300009071 Faith P43088 5737 PTGFR Homo sapiens 9606 Comment/tissue specificity Isoform: P43088-1;Isoform 1 heart UBERON:0000948 Y Y PubMed:14984197 PENTACON AAP 4/21/2014 3 3300009072 Faith P43088 5737 PTGFR Homo sapiens 9606 Comment/tissue specificity Isoform: P43088-1;Isoform 1 placenta BTO:0001078 Y Y PubMed:14984197 PENTACON AAP 4/21/2014 3 3300009073 Faith P43088 5737 PTGFR Homo sapiens 9606 Comment/tissue specificity Isoform: P43088-1;Isoform 1 placenta UBERON:0001987 Y Y PubMed:14984197 PENTACON AAP 4/21/2014 3 3300009074 Faith P43088 5737 PTGFR Homo sapiens 9606 Comment/tissue specificity Isoform: P43088-2;Isoform 2;FP(S) heart BTO:0000562 Y Y PubMed:14984197 PENTACON AAP 4/21/2014 3 3300009075 Faith P43088 5737 PTGFR Homo sapiens 9606 Comment/tissue specificity Isoform: P43088-2;Isoform 2;FP(S) heart UBERON:0000948 Y Y PubMed:14984197 PENTACON AAP 4/21/2014 3 3300009076 Faith P43088 5737 PTGFR Homo sapiens 9606 Comment/tissue specificity Isoform: P43088-2;Isoform 2;FP(S) placenta BTO:0001078 Y Y PubMed:14984197 PENTACON AAP 4/21/2014 3 3300009077 Faith P43088 5737 PTGFR Homo sapiens 9606 Comment/tissue specificity Isoform: P43088-2;Isoform 2;FP(S) placenta UBERON:0001987 Y Y PubMed:14984197 PENTACON AAP 4/21/2014 3 3300009078 Faith P43088 5737 PTGFR Homo sapiens 9606 Comment/tissue specificity Isoform: P43088-2;Isoform 2;FP(S) skeletal muscle BTO:0001103 Y Y PubMed:14984197 PENTACON AAP 4/21/2014 3 3300009079 Faith P43088 5737 PTGFR Homo sapiens 9606 Comment/tissue specificity Isoform: P43088-2;Isoform 2;FP(S) skeletal muscle tissue UBERON:0001134 Y Y PubMed:14984197 PENTACON AAP 4/21/2014 3 3300009080 Faith Q16647 5740 PTGIS Homo sapiens 9606 Comment/tissue specificity mRNA was detected by RNA blot hybridization of mRNA extracted from HAEC. aortic endothelial cell BTO:0003245 Y Y PubMed:8185632 PENTACON AAP, DGA 4/21/2014 3 3300009081 Faith Q16647 5740 PTGIS Homo sapiens 9606 Comment/tissue specificity 24 h incubation with IL-1alpha (1 ng/mL) induced expression of PTGIS in HAEC. mRNA was detected by RNA blot hybridization. aortic endothelial cell BTO:0003245 Y Y PubMed:8185632 PENTACON inducible:IL-1alpha AAP, DGA 4/21/2014 3 3300009082 Faith Q16647 5740 PTGIS Homo sapiens 9606 Comment/tissue specificity 24 h incubation with IL-1beta (1 ng/mL) induced expression of PTGIS in HAEC. mRNA was detected by RNA blot hybridization. aortic endothelial cell BTO:0003245 Y Y PubMed:8185632 PENTACON inducible:IL-1beta AAP, DGA 4/21/2014 3 3300009083 Faith Q16647 5740 PTGIS Homo sapiens 9606 Comment/tissue specificity 24 h incubation with IL-6 (2.5 ng/mL) induced expression of PTGIS in HAEC. mRNA was detected by RNA blot hybridization. aortic endothelial cell BTO:0003245 Y Y PubMed:8185632 PENTACON inducible:IL-6 AAP, DGA 4/21/2014 3 3300009084 Faith Q16647 5740 PTGIS Homo sapiens 9606 Comment/tissue specificity poly(A)+ mRNA was detected in small intestine small intestine BTO:0000651 Y Y PubMed:8185632 PENTACON low but significant mRNA levels AAP, DGA 4/21/2014 3 3300009085 Faith Q16647 5740 PTGIS Homo sapiens 9606 Comment/tissue specificity poly(A)+ mRNA was detected in small intestine small intestine UBERON:0002108 Y Y PubMed:8185632 PENTACON low but significant mRNA levels AAP, DGA 4/21/2014 3 3300009086 Faith Q16647 5740 PTGIS Homo sapiens 9606 Comment/tissue specificity poly(A)+ mRNA was detected in kidney kidney BTO:0000671 Y Y PubMed:8185632 PENTACON low but significant mRNA levels AAP, DGA 4/21/2014 3 3300009087 Faith Q16647 5740 PTGIS Homo sapiens 9606 Comment/tissue specificity poly(A)+ mRNA was detected in kidney kidney UBERON:0002113 Y Y PubMed:8185632 PENTACON low but significant mRNA levels AAP, DGA 4/21/2014 3 3300009088 Faith Q16647 5740 PTGIS Homo sapiens 9606 Comment/tissue specificity poly(A)+ mRNA was detected in liver liver BTO:0000759 Y Y PubMed:8185632 PENTACON low but significant mRNA levels AAP, DGA 4/21/2014 3 3300009089 Faith Q16647 5740 PTGIS Homo sapiens 9606 Comment/tissue specificity poly(A)+ mRNA was detected in liver liver UBERON:0002107 Y Y PubMed:8185632 PENTACON low but significant mRNA levels AAP, DGA 4/21/2014 3 3300009090 Faith Q16647 5740 PTGIS Homo sapiens 9606 Comment/tissue specificity poly(A)+ mRNA was detected in brain brain BTO:0000142 Y Y PubMed:8185632 PENTACON low but significant mRNA levels AAP, DGA 4/21/2014 3 3300009091 Faith Q16647 5740 PTGIS Homo sapiens 9606 Comment/tissue specificity poly(A)+ mRNA was detected in brain brain UBERON:0000955 Y Y PubMed:8185632 PENTACON low but significant mRNA levels AAP, DGA 4/21/2014 3 3300009092 Faith Q16647 5740 PTGIS Homo sapiens 9606 Comment/tissue specificity poly(A)+ mRNA was detected in umbilical vein umbilical vein BTO:0001509 Y Y PubMed:8034007 PENTACON AAP, DGA 4/21/2014 3 3300009093 Faith Q16647 5740 PTGIS Homo sapiens 9606 Comment/tissue specificity poly(A)+ mRNA was detected in umbilical vein umbilical vein UBERON:0002066 Y Y PubMed:8034007 PENTACON AAP, DGA 4/21/2014 3 3300009094 Faith Q16647 5740 PTGIS Homo sapiens 9606 Comment/tissue specificity PTGIS mRNA is up-regulated by high shear stimulation (defined as 25 dyn/cm^2 in PubMed:10694510). Up-regulation is time-dependent. HUVEC cell BTO:0001949 Y Y PubMed:10694510 PENTACON inducible: high shear stress AAP, DGA 4/21/2014 3 3300009095 Faith Q16647 5740 PTGIS Homo sapiens 9606 Comment/tissue specificity PTGIS protein was expressed constitutively in vascular smooth muscle cells isolated from aorta aortic smooth muscle cell BTO:0004577 Y Y PubMed:17403097 PENTACON AAP, DGA 4/21/2014 3 3300009096 Faith Q16647 5740 PTGIS Homo sapiens 9606 Comment/tissue specificity CTXA2 (1 ug/ml for 20 h) treatment resulted in the up-regulation of PTGIS (protein). HUVEC cell BTO:0001949 Y Y PubMed:11483590 PENTACON inducible:CTXA2 AAP, DGA 4/21/2014 3 3300009097 Faith Q16647 5740 PTGIS Homo sapiens 9606 Comment/tissue specificity IL-1beta (1 ng/ml for 20 h) treatment resulted in the up-regulation of PTGIS (protein). HUVEC cell BTO:0001949 Y Y PubMed:11483590 PENTACON inducible:IL-1beta AAP, DGA 4/21/2014 3 3300009098 Faith P18054 239 ALOX12 Homo sapiens 9606 Comment/tissue specificity ALOX12 mRNA was detected in umbilical smooth muscle cells vascular smooth muscle cell BTO:0004578 smooth muscle cell of the umbilical artery CL:0002594 Y Y PubMed:9647328 PENTACON AAP, DGA 4/21/2014 3 3300009099 Faith P23219 5742 PTGS1 Homo sapiens 9606 Comment/tissue specificity Atherosclerotic lesions contained Cox-1 protein (70 kd and 50 kd bands). The 50 kd band was more pronounced in athersclerotic lesions than normal artery tissue. artery BTO:0000573 atherosclerosis DOID: 1936 Atherosclerosis SNOMEDCT:195251000 Y Y PubMed:10514410 PENTACON From review: Pubmed:16395396; constitutive; in plaque AAP, DGA 4/21/2014 3 3300009100 Faith P23219 5742 PTGS1 Homo sapiens 9606 Comment/tissue specificity Atherosclerotic lesions contained Cox-1 protein (70 kd and 50 kd bands). The 50 kd band was more pronounced in athersclerotic lesions than normal artery tissue. artery UBERON:0001637 atherosclerosis DOID: 1936 Atherosclerosis SNOMEDCT:195251000 Y Y PubMed:10514410 PENTACON From review: Pubmed:16395396; constitutive; in plaque AAP, DGA 4/21/2014 3 3300009101 Faith P23219 5742 PTGS1 Homo sapiens 9606 Comment/tissue specificity Atherosclerotic lesions contained Cox-1 protein (70 kd and 50 kd bands). The 50 kd band was more pronounced in athersclerotic lesions than normal artery tissue. artery BTO:0000573 Y Y PubMed:10514410 PENTACON From review: Pubmed:16395396; constitutive AAP, DGA 4/21/2014 3 3300009102 Faith P23219 5742 PTGS1 Homo sapiens 9606 Comment/tissue specificity Atherosclerotic lesions contained Cox-1 protein (70 kd and 50 kd bands). The 50 kd band was more pronounced in athersclerotic lesions than normal artery tissue. artery UBERON:0001637 Y Y PubMed:10514410 PENTACON From review: Pubmed:16395396; constitutive AAP, DGA 4/21/2014 3 3300009103 Faith P23219 5742 PTGS1 Homo sapiens 9606 Comment/tissue specificity The endothelium of plaque microvessels showed prominent Cox-1 and Cox-2 protein immunostaining microvascular endothelium BTO:0003122 atherosclerosis DOID: 1936 Atherosclerosis SNOMEDCT:195251000 Y Y PubMed:10514410 PENTACON From review: Pubmed:16395396 AAP, DGA 4/21/2014 3 3300009104 Faith P23219 5742 PTGS1 Homo sapiens 9606 Comment/tissue specificity The endothelium of plaque microvessels showed prominent Cox-1 and Cox-2 protein immunostaining microvascular endothelium UBERON:0008339 atherosclerosis DOID: 1936 Atherosclerosis SNOMEDCT:195251000 Y Y PubMed:10514410 PENTACON From review: Pubmed:16395396 AAP, DGA 4/21/2014 3 3300009105 Faith P23219 5742 PTGS1 Homo sapiens 9606 Comment/tissue specificity PTGS1 mRNA was detected in prostate, uterus, small intestine, mammary gland, stomach, lung, thymus, liver, kidney, testis, pancreas, and brain prostate gland BTO:0001129 Y Y PubMed:8365485 PENTACON pool 5 adult male AAP, DGA 4/21/2014 3 3300009106 Faith P23219 5742 PTGS1 Homo sapiens 9606 Comment/tissue specificity PTGS1 mRNA was detected in prostate, uterus, small intestine, mammary gland, stomach, lung, thymus, liver, kidney, testis, pancreas, and brain prostate gland UBERON:0002367 Y Y PubMed:8365485 PENTACON pool 5 adult male AAP, DGA 4/21/2014 3 3300009107 Faith P23219 5742 PTGS1 Homo sapiens 9606 Comment/tissue specificity PTGS1 mRNA was detected in prostate, uterus, small intestine, mammary gland, stomach, lung, thymus, liver, kidney, testis, pancreas, and brain uterus BTO:0001424 Y Y PubMed:8365485 PENTACON adult female AAP, DGA 4/21/2014 3 3300009108 Faith P23219 5742 PTGS1 Homo sapiens 9606 Comment/tissue specificity PTGS1 mRNA was detected in prostate, uterus, small intestine, mammary gland, stomach, lung, thymus, liver, kidney, testis, pancreas, and brain uterus UBERON:0000995 Y Y PubMed:8365485 PENTACON adult female AAP, DGA 4/21/2014 3 3300009109 Faith P23219 5742 PTGS1 Homo sapiens 9606 Comment/tissue specificity PTGS1 mRNA was detected in prostate, uterus, small intestine, mammary gland, stomach, lung, thymus, liver, kidney, testis, pancreas, and brain small intestine BTO:0000651 Y Y PubMed:8365485 PENTACON adult female AAP, DGA 4/21/2014 3 3300009110 Faith P23219 5742 PTGS1 Homo sapiens 9606 Comment/tissue specificity PTGS1 mRNA was detected in prostate, uterus, small intestine, mammary gland, stomach, lung, thymus, liver, kidney, testis, pancreas, and brain small intestine UBERON:0002108 Y Y PubMed:8365485 PENTACON adult female AAP, DGA 4/21/2014 3 3300009111 Faith P23219 5742 PTGS1 Homo sapiens 9606 Comment/tissue specificity PTGS1 mRNA was detected in prostate, uterus, small intestine, mammary gland, stomach, lung, thymus, liver, kidney, testis, pancreas, and brain mammary gland BTO:0000817 Y Y PubMed:8365485 PENTACON pool 2 non-lactating females AAP, DGA 4/21/2014 3 3300009112 Faith P23219 5742 PTGS1 Homo sapiens 9606 Comment/tissue specificity PTGS1 mRNA was detected in prostate, uterus, small intestine, mammary gland, stomach, lung, thymus, liver, kidney, testis, pancreas, and brain mammary gland UBERON:0001911 Y Y PubMed:8365485 PENTACON pool 2 non-lactating females AAP, DGA 4/21/2014 3 3300009113 Faith P23219 5742 PTGS1 Homo sapiens 9606 Comment/tissue specificity PTGS1 mRNA was detected in prostate, uterus, small intestine, mammary gland, stomach, lung, thymus, liver, kidney, testis, pancreas, and brain stomach BTO:0001307 Y Y PubMed:8365485 PENTACON adult female AAP, DGA 4/21/2014 3 3300009114 Faith P23219 5742 PTGS1 Homo sapiens 9606 Comment/tissue specificity PTGS1 mRNA was detected in prostate, uterus, small intestine, mammary gland, stomach, lung, thymus, liver, kidney, testis, pancreas, and brain stomach UBERON:0000945 Y Y PubMed:8365485 PENTACON adult female AAP, DGA 4/21/2014 3 3300009115 Faith P23219 5742 PTGS1 Homo sapiens 9606 Comment/tissue specificity PTGS1 mRNA was detected in prostate, uterus, small intestine, mammary gland, stomach, lung, thymus, liver, kidney, testis, pancreas, and brain lung BTO:0000763 Y Y PubMed:8365485 PENTACON adult female AAP, DGA 4/21/2014 3 3300009116 Faith P23219 5742 PTGS1 Homo sapiens 9606 Comment/tissue specificity PTGS1 mRNA was detected in prostate, uterus, small intestine, mammary gland, stomach, lung, thymus, liver, kidney, testis, pancreas, and brain lung UBERON:0002048 Y Y PubMed:8365485 PENTACON adult female AAP, DGA 4/21/2014 3 3300009117 Faith P23219 5742 PTGS1 Homo sapiens 9606 Comment/tissue specificity PTGS1 mRNA was detected in prostate, uterus, small intestine, mammary gland, stomach, lung, thymus, liver, kidney, testis, pancreas, and brain thymus BTO:0001374 Y Y PubMed:8365485 PENTACON 3 year old male AAP, DGA 4/21/2014 3 3300009118 Faith P23219 5742 PTGS1 Homo sapiens 9606 Comment/tissue specificity PTGS1 mRNA was detected in prostate, uterus, small intestine, mammary gland, stomach, lung, thymus, liver, kidney, testis, pancreas, and brain thymus UBERON:0002370 Y Y PubMed:8365485 PENTACON 3 year old male AAP, DGA 4/21/2014 3 3300009119 Faith P23219 5742 PTGS1 Homo sapiens 9606 Comment/tissue specificity PTGS1 mRNA was detected in prostate, uterus, small intestine, mammary gland, stomach, lung, thymus, liver, kidney, testis, pancreas, and brain liver BTO:0000759 Y Y PubMed:8365485 PENTACON adult female;adult male AAP, DGA 4/21/2014 3 3300009120 Faith P23219 5742 PTGS1 Homo sapiens 9606 Comment/tissue specificity PTGS1 mRNA was detected in prostate, uterus, small intestine, mammary gland, stomach, lung, thymus, liver, kidney, testis, pancreas, and brain liver UBERON:0002107 Y Y PubMed:8365485 PENTACON adult female;adult male AAP, DGA 4/21/2014 3 3300009121 Faith P23219 5742 PTGS1 Homo sapiens 9606 Comment/tissue specificity PTGS1 mRNA was detected in prostate, uterus, small intestine, mammary gland, stomach, lung, thymus, liver, kidney, testis, pancreas, and brain kidney BTO:0000671 Y Y PubMed:8365485 PENTACON adult male AAP, DGA 4/21/2014 3 3300009122 Faith P23219 5742 PTGS1 Homo sapiens 9606 Comment/tissue specificity PTGS1 mRNA was detected in prostate, uterus, small intestine, mammary gland, stomach, lung, thymus, liver, kidney, testis, pancreas, and brain kidney UBERON:0002113 Y Y PubMed:8365485 PENTACON adult male AAP, DGA 4/21/2014 3 3300009123 Faith P23219 5742 PTGS1 Homo sapiens 9606 Comment/tissue specificity PTGS1 mRNA was detected in prostate, uterus, small intestine, mammary gland, stomach, lung, thymus, liver, kidney, testis, pancreas, and brain testis BTO:0001363 Y Y PubMed:8365485 PENTACON AAP, DGA 4/21/2014 3 3300009124 Faith P23219 5742 PTGS1 Homo sapiens 9606 Comment/tissue specificity PTGS1 mRNA was detected in prostate, uterus, small intestine, mammary gland, stomach, lung, thymus, liver, kidney, testis, pancreas, and brain testis UBERON:0000473 Y Y PubMed:8365485 PENTACON AAP, DGA 4/21/2014 3 3300009125 Faith P23219 5742 PTGS1 Homo sapiens 9606 Comment/tissue specificity PTGS1 mRNA was detected in prostate, uterus, small intestine, mammary gland, stomach, lung, thymus, liver, kidney, testis, pancreas, and brain pancreas BTO:0000988 Y Y PubMed:8365485 PENTACON adult male AAP, DGA 4/21/2014 3 3300009126 Faith P23219 5742 PTGS1 Homo sapiens 9606 Comment/tissue specificity PTGS1 mRNA was detected in prostate, uterus, small intestine, mammary gland, stomach, lung, thymus, liver, kidney, testis, pancreas, and brain pancreas UBERON:0001264 Y Y PubMed:8365485 PENTACON adult male AAP, DGA 4/21/2014 3 3300009127 Faith P23219 5742 PTGS1 Homo sapiens 9606 Comment/tissue specificity PTGS1 mRNA was detected in prostate, uterus, small intestine, mammary gland, stomach, lung, thymus, liver, kidney, testis, pancreas, and brain brain BTO:0000142 Y Y PubMed:8365485 PENTACON adult male AAP, DGA 4/21/2014 3 3300009128 Faith P23219 5742 PTGS1 Homo sapiens 9606 Comment/tissue specificity PTGS1 mRNA was detected in prostate, uterus, small intestine, mammary gland, stomach, lung, thymus, liver, kidney, testis, pancreas, and brain brain UBERON:0000955 Y Y PubMed:8365485 PENTACON adult male AAP, DGA 4/21/2014 3 3300009129 Faith P23219 5742 PTGS1 Homo sapiens 9606 Comment/tissue specificity PTGS1 protein expression was induced by 2 h (2, 4, 8, 24 h measured) treatement of HUVEC with VEGF (10 ng/ml) HUVEC cell BTO:0001949 Y Y PubMed:9627078 PENTACON inducible: VEGF AAP, DGA 4/21/2014 3 3300009130 Faith P23219 5742 PTGS1 Homo sapiens 9606 Comment/tissue specificity PTGS1 mRNA is up-regulated by high shear stimulation (defined as 25 dyn/cm^2 in PubMed:10694510; shear stress loading in PubMed:9848885 was 24 dyne/cm^2). Up-regulation is time-dependent. HUVEC cell BTO:0001949 Y Y PubMed:9848885 PubMed:10694510 PENTACON inducible: high shear stress AAP, DGA 4/21/2014 3 3300009131 Faith P23219 5742 PTGS1 Homo sapiens 9606 Comment/tissue specificity PTGS1 mRNA was detected in HUVEC (protein in PubMed:11483590) HUVEC cell BTO:0001949 Y Y PubMed:1380156 PubMed:7568157 PubMed:11208485 PubMed:9627078 PubMed:9647328 PubMed:11483590 PENTACON sometimes, it is stated that a low level is constitutively expressed AAP, DGA 4/21/2014 3 3300009132 Faith P23219 5742 PTGS1 Homo sapiens 9606 Comment/tissue specificity PTGS1 mRNA was detected in monocytes monocyte BTO:0000876 Y Y PubMed:1380156 PENTACON AAP, DGA 4/21/2014 3 3300009133 Faith P23219 5742 PTGS1 Homo sapiens 9606 Comment/tissue specificity alveolar macrophage BTO:0000802 Y Y ECO:0000006 PubMed:8282809 PENTACON constitutive AAP, DGA 4/21/2014 3 3300009134 Faith P23219 5742 PTGS1 Homo sapiens 9606 Comment/tissue specificity macrophage cell line BTO:0002278 U937(CD59+) cell CLO:0009466 Y Y ECO:0000006 PubMed:7695610 PENTACON constitutive AAP, DGA 4/21/2014 3 3300009135 Faith P23219 5742 PTGS1 Homo sapiens 9606 Comment/tissue specificity aortic smooth muscle cell BTO:0004577 Y Y ECO:0000006 PubMed:17403097 PENTACON AAP, DGA 4/21/2014 3 3300009136 Faith P23219 5742 PTGS1 Homo sapiens 9606 Comment/tissue specificity Treatment of THP-1 cells with TPA (16 nM in DMSO) for 24 h caused an increase in PGH synthase-1 mRNA and protein (time course study) THP-1 cell BTO:0001370 THP-1 cell CLO:0009348 Y Y PubMed:9547543 PENTACON inducible: phorbol ester TPA AAP, DGA 4/21/2014 3 3300009137 Faith P23219 5742 PTGS1 Homo sapiens 9606 Comment/tissue specificity Treatment of THP-1 cells with phorbol 12-myristate 13-acetate (2 ng/mL) caused an increase in PGH synthase protein (time course study) THP-1 cell BTO:0001370 THP-1 cell CLO:0009348 Y Y PubMed:1742485 PENTACON inducible: phorbol 12-myristate 13-acetate AAP, DGA 4/21/2014 3 3300009138 Faith P23219 5742 PTGS1 Homo sapiens 9606 Comment/tissue specificity Normal arterial tissue contained Cox-1 protein artery BTO:0000573 Y Y PubMed:10514410 PENTACON From review: Pubmed:16395396 AAP, DGA 4/21/2014 3 3300009139 Faith P23219 5742 PTGS1 Homo sapiens 9606 Comment/tissue specificity Normal arterial tissue contained Cox-1 protein artery UBERON:0001637 Y Y PubMed:10514410 PENTACON From review: Pubmed:16395396 AAP, DGA 4/21/2014 3 3300009140 Faith P23219 5742 PTGS1 Homo sapiens 9606 Comment/tissue specificity PTGS1 mRNA was detected in tunica mediae of umbilical cord artery umbilical artery BTO:0000841 Y Y PubMed:9647328 PENTACON AAP, DGA 4/21/2014 3 3300009141 Faith P23219 5742 PTGS1 Homo sapiens 9606 Comment/tissue specificity PTGS1 mRNA was detected in tunica mediae of umbilical cord artery umbilical artery UBERON:0001310 Y Y PubMed:9647328 PENTACON AAP, DGA 4/21/2014 3 3300009142 Faith P23219 5742 PTGS1 Homo sapiens 9606 Comment/tissue specificity PTGS1 mRNA was detected in tunica mediae of umbilical cord vein umbilical vein BTO:0001509 Y Y PubMed:9647328 PENTACON AAP, DGA 4/21/2014 3 3300009143 Faith P23219 5742 PTGS1 Homo sapiens 9606 Comment/tissue specificity PTGS1 mRNA was detected in tunica mediae of umbilical cord vein umbilical vein UBERON:0002066 Y Y PubMed:9647328 PENTACON AAP, DGA 4/21/2014 3 3300009144 Faith P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity The endothelium of plaque microvessels showed prominent Cox-1 and Cox-2 protein immunostaining microvascular endothelium BTO:0003122 atherosclerosis DOID: 1936 Atherosclerosis SNOMEDCT:195251000 Y Y PubMed:10514410 PENTACON From review: Pubmed:16395396 AAP, DGA 4/21/2014 3 3300009145 Faith P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity The endothelium of plaque microvessels showed prominent Cox-1 and Cox-2 protein immunostaining microvascular endothelium UBERON:0008339 atherosclerosis DOID: 1936 Atherosclerosis SNOMEDCT:195251000 Y Y PubMed:10514410 PENTACON From review: Pubmed:16395396 AAP, DGA 4/21/2014 3 3300009146 Faith P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity PTGS2 protein was abundant in atheromatous lesions, as compared to normal arterial tissue. 70 and 50 kd bands were detected. artery BTO:0000573 atherosclerosis DOID: 1936 Atherosclerosis SNOMEDCT:195251000 Y Y PubMed:10514410 PENTACON From review: Pubmed:16395396 AAP, DGA 4/21/2014 3 3300009147 Faith P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity PTGS2 protein was abundant in atheromatous lesions, as compared to normal arterial tissue. 70 and 50 kd bands were detected. artery UBERON:0001637 atherosclerosis DOID: 1936 Atherosclerosis SNOMEDCT:195251000 Y Y PubMed:10514410 PENTACON From review: Pubmed:16395396 AAP, DGA 4/21/2014 3 3300009148 Faith P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity PTGS2 protein was detected in infiltrating mononuclear cells and endothelial cells of blood vessels synovial tissues of patients with RA. It appeared to be localized to the perinuclear region and endoplasmic reticulum. mononuclear cell BTO:0000878 rheumatoid arthritis DOID: 7148 Rheumatoid arthritis SNOMEDCT:69896004 Y Y PubMed:8132748 PENTACON From review: Pubmed:21508345 AAP, DGA 4/21/2014 3 3300009149 Faith P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity PTGS2 protein was detected in infiltrating mononuclear cells and endothelial cells of blood vessels synovial tissues of patients with RA. It appeared to be localized to the perinuclear region and endoplasmic reticulum. vascular endothelial cell BTO:0001854 rheumatoid arthritis DOID: 7148 Rheumatoid arthritis SNOMEDCT:69896004 Y Y PubMed:8132748 PENTACON From review: Pubmed:21508345 AAP, DGA 4/21/2014 3 3300009150 Faith P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity PTGS2 mRNA was detected in tunica mediae of umbilical cord artery umbilical artery BTO:0000841 Y Y PubMed:9647328 PENTACON AAP, DGA 4/21/2014 3 3300009151 Faith P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity PTGS2 mRNA was detected in tunica mediae of umbilical cord artery umbilical artery UBERON:0001310 Y Y PubMed:9647328 PENTACON AAP, DGA 4/21/2014 3 3300009152 Faith P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity PTGS2 mRNA was detected in tunica mediae of umbilical cord vein umbilical vein BTO:0001509 Y Y PubMed:9647328 PENTACON AAP, DGA 4/21/2014 3 3300009153 Faith P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity PTGS2 mRNA was detected in tunica mediae of umbilical cord vein umbilical vein UBERON:0002066 Y Y PubMed:9647328 PENTACON AAP, DGA 4/21/2014 3 3300009154 Faith P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity Co-incubation of HUVECs with platelets induced PTGS2 (protein) in a dose- and time- dependent manner. HUVEC cell BTO:0001949 Y Y PubMed:11483590 PENTACON inducible:platelets with cell-cell contact AAP, DGA 4/21/2014 3 3300009155 Faith P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity Incubation of HUVECs next to platelets (no cell-cell contact) for 20 h induced PTGS2 (protein) in a dose- and time- dependent manner. HUVEC cell BTO:0001949 Y Y PubMed:11483590 PENTACON inducible:platelets without cell-cell contact AAP, DGA 4/21/2014 3 3300009156 Faith P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity When HUVECs were incubated with increasing concentrations of the TXA2 analog, CTXA2 (0.01–1 μg/ml), the expression of PTGS2 dose-dependently increased. HUVEC cell BTO:0001949 Y Y PubMed:11483590 PENTACON inducible:CTXA2 (carboxylic TXA2) AAP, DGA 4/21/2014 3 3300009157 Faith P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity PTGS2 mRNA and protein was detected in HUVEC HUVEC cell BTO:0001949 Y Y PubMed:1380156 PubMed:8526850 PubMed:7568157 PubMed:9647328 PENTACON low level constitutively expressed AAP, DGA 4/21/2014 3 3300009158 Faith P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity PTGS2 RNA expression was induced in HUVEC treated with PMA (20 ng/ml) and cycloheximide (10 ug/ml) for 4 h HUVEC cell BTO:0001949 Y Y PubMed:1380156 PENTACON inducible: phorbol 12-myristate 13-acetate and cycloheximide AAP, DGA 4/21/2014 3 3300009159 Faith P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity PTGS2 mRNA was detected in monocytes monocyte BTO:0000876 Y Y PubMed:1380156 PENTACON AAP, DGA 4/21/2014 3 3300009160 Faith P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity PTGS2 mRNA is up-regulated by high shear stimulation (defined as 25 dyn/cm^2 in PubMed:10694510). Up-regulation is time-dependent. HUVEC cell BTO:0001949 Y Y PubMed:10694510 PENTACON inducible: high shear stress AAP, DGA 4/21/2014 3 3300009161 Faith P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity Expression of PTGS2 mRNA was induced in ECV304 cells treated with IL-1alpha (10 ng/ml). Induction is time-dependent endothelial cell line BTO:0001519 ECV304 cell CLO:0002881 Y Y PubMed:8163473 PENTACON inducible:IL-1alpha AAP, DGA 4/21/2014 3 3300009162 Faith P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity Expression of PTGS2 mRNA was induced in ECV304 cells treated with PMA (10 ng/ml) for 4 h endothelial cell line BTO:0001519 ECV304 cell CLO:0002881 Y Y PubMed:8163473 PENTACON inducible:phorbol 12-myristate 13-acetate (PMA) AAP, DGA 4/21/2014 3 3300009163 Faith P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity HUVEC cell BTO:0001949 Y Y ECO:0000006 PubMed:8526850 PENTACON inducible:phorbol myristate acetate (PMA) AAP, DGA 4/21/2014 3 3300009164 Faith P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity Expression of PTGS2 mRNA was induced in ECV304 cells treated with FBS (10 %) for 4 h endothelial cell line BTO:0001519 ECV304 cell CLO:0002881 Y Y PubMed:8163473 PENTACON inducible:fetal bovine serum AAP, DGA 4/21/2014 3 3300009165 Faith P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity Expression of PTGS2 mRNA was induced in ECV304 cells treated with IL-1beta (10 ng/ml) for 24 h endothelial cell line BTO:0001519 ECV304 cell CLO:0002881 Y Y PubMed:8163473 PENTACON inducible:IL-1beta AAP, DGA 4/21/2014 3 3300009166 Faith P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity PTGS2 expression was induced in HUVEC treated with IL-1beta [(mRNA) 5 ng/ml for 3 h in PubMed:12881220; (mRNA) 1 ng/ml for 24 h in PubMed:7568157; (protein) 1 ng/ml for 20 h in PubMed:11483590] HUVEC cell BTO:0001949 Y Y PubMed:12881220 PubMed:7568157 PubMed:11483590 PENTACON inducible:IL-1beta AAP, DGA 4/21/2014 3 3300009167 Faith P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity PTGS2 mRNA steady state expression was stimulated in ECV304 cells treated with cycloheximide (5 ug/ml) for 2 h or 6 h endothelial cell line BTO:0001519 ECV304 cell CLO:0002881 Y Y PubMed:8163473 PENTACON inducible:cycloheximide AAP, DGA 4/21/2014 3 3300009168 Faith P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity PTGS2 mRNA was stimulated in ECV304 cells treated with pactamycin (1 ug/ml) for 3 h endothelial cell line BTO:0001519 ECV304 cell CLO:0002881 Y Y PubMed:8163473 PENTACON inducible:pactamycin AAP, DGA 4/21/2014 3 3300009169 Faith P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity PTGS2 mRNA was stimulated in ECV304 cells treated with puromycin (100 ug/ml) for 3 h endothelial cell line BTO:0001519 ECV304 cell CLO:0002881 Y Y PubMed:8163473 PENTACON inducible:puromycin AAP, DGA 4/21/2014 3 3300009170 Faith P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity PTGS2 mRNA was stimulated in ECV304 cells treated with cycloheximide (10 ug/ml) and IL-1alpha (10 ng/ml) for 3 h endothelial cell line BTO:0001519 ECV304 cell CLO:0002881 Y Y PubMed:8163473 PENTACON inducible:cycloheximide and IL-1alpha AAP, DGA 4/21/2014 3 3300009171 Faith P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity PTGS2 mRNA was stimulated in ECV304 cells treated with pactamycin (1 ug/ml) and IL-1alpha (10 ng/ml) for 3 h endothelial cell line BTO:0001519 ECV304 cell CLO:0002881 Y Y PubMed:8163473 PENTACON inducible:pactamycin and IL-1alpha AAP, DGA 4/21/2014 3 3300009172 Faith P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity PTGS2 mRNA was stimulated in ECV304 cells treated with puromycin (100 ug/ml) and IL-1alpha (10 ng/ml) for 3 h endothelial cell line BTO:0001519 ECV304 cell CLO:0002881 Y Y PubMed:8163473 PENTACON inducible:puromycin and IL-1alpha AAP, DGA 4/21/2014 3 3300009173 Faith P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity Expression of PTGS2 mRNA was induced in ECV304 cells treated with FBS (10 %) + IL-1alpha (10 ng/ml) for 4 h endothelial cell line BTO:0001519 ECV304 cell CLO:0002881 Y Y PubMed:8163473 PENTACON inducible:fetal bovine serum and IL-1alpha AAP, DGA 4/21/2014 3 3300009174 Faith P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity Expression of PTGS2 mRNA was induced in HUVEC treated with IL-1alpha (10 ng/ml in PubMed:8163473 and 25 units/ml in PubMed:8526850). Induction is time-dependent HUVEC cell BTO:0001949 Y Y PubMed:8163473 PubMed:8526850 PENTACON inducible:IL-1alpha AAP, DGA 4/21/2014 3 3300009175 Faith P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity PTGS2 mRNA expression was induced in a human endothelial cell line derived from a patient with angiosarcoma after 2 h treatment with TNFalpha (10 ng/ml) and glucose (5.5 mM and 30 mM). Protein expression was induced, measured at 24 h exposure. endothelial cell line BTO:0001519 Y Y PubMed:21040737 PENTACON inducible: TNF-alpha and high glucose AAP, DGA 4/21/2014 3 3300009176 Faith P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity PTGS2 mRNA expression in HUVECs was significantly increased by the medium conditioned by H9c2 cells cultured under hypoxic conditions for 1 h and 3 h. Protein expression increased for 3, 6 and 12 h exposure. HUVEC cell BTO:0001949 Y Y PubMed:12881220 PENTACON inducible: hypoxic myocyte-conditioned medium conditioned with rat myocytes AAP, DGA 4/21/2014 3 3300009177 Faith P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity PTGS2 mRNA expression was induced in HUVEC treated with VEGF (20 ng/ml) for 3 h HUVEC cell BTO:0001949 Y Y PubMed:12881220 PENTACON inducible: VEGF AAP, DGA 4/21/2014 3 3300009178 Faith P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity PTGS2 mRNA was upregulated in HUVEC after 4 hr bradykinin (10 nM) exposure HUVEC cell BTO:0001949 Y Y PubMed:11208485 PENTACON inducible:bradykinin AAP, DGA 4/21/2014 3 3300009179 Faith P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity 24 h exposure to LPS (10 ug/ml) increased PTGS2 mRNA and protein expression in alveolar macrophages alveolar macrophage BTO:0000802 Y Y PubMed:8282809 PubMed:7528741 PENTACON inducible: LPS AAP, DGA 4/21/2014 3 3300009180 Faith P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity Macrophages exposed to LPS for 6 hours showed enhanced PTGS2 mRNA expression 2 to 8 fold in a dose-dependent fashion (1, 10, 25, 50 100 ng/ml). At 50 ng/ml upregulation was observed as early as 1 h exposure. macrophage cell line BTO:0002278 U937(CD59+) cell CLO:0009466 Y Y PubMed:7695610 PENTACON inducible: LPS AAP, DGA 4/21/2014 3 3300009181 Faith P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity Macrophages primed with IFN-gamma (10 U/ml of human recombinant IFN-gamma) for 24 h then stimulated with TNF-alpha (100 U/ml) for 6 h showed moderate accumulation of PTGS2 mRNA. macrophage cell line BTO:0002278 U937(CD59+) cell CLO:0009466 Y Y PubMed:7695610 PENTACON inducible: IFN-gamma primed + TNF-alpha AAP, DGA 4/21/2014 3 3300009182 Faith P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity Macrophages primed with IFN-gamma (10 U/ml of human recombinant IFN-gamma) for 24 h then stimulated with IFN-gamma (100 U/ml) for 6 h showed moderate accumulation of PTGS2 mRNA. macrophage cell line BTO:0002278 U937(CD59+) cell CLO:0009466 Y Y PubMed:7695610 PENTACON inducible: IFN-gamma primed + IFN-gamma AAP, DGA 4/21/2014 3 3300009183 Faith P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity Macrophages primed with IFN-gamma (10 U/ml of human recombinant IFN-gamma) for 24 h then stimulated with LPS (100 ng/ml) for 6 h showed a 207% increase in the expression of PTGS2 mRNA. macrophage cell line BTO:0002278 U937(CD59+) cell CLO:0009466 Y Y PubMed:7695610 PENTACON inducible: IFN-gamma primed + LPS AAP, DGA 4/21/2014 3 3300009184 Faith P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity Macrophages co-stimulated with IFN-gamma (100 U/ml) and TNF-alpha (100 U/ml) for 24 h displayed increased accumulation of PTGS2 mRNA. macrophage cell line BTO:0002278 U937(CD59+) cell CLO:0009466 Y Y PubMed:7695610 PENTACON inducible: IFN-gamma and TNF-alpha co-stimulation AAP, DGA 4/21/2014 3 3300009185 Faith P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity Macrophages co-stimulated with IFN-gamma (100 U/ml) and LPS (100 ng/ml) for 24 h displayed increased accumulation of PTGS2 mRNA. macrophage cell line BTO:0002278 U937(CD59+) cell CLO:0009466 Y Y PubMed:7695610 PENTACON inducible: IFN-gamma and LPS co-stimulation AAP, DGA 4/21/2014 3 3300009186 Faith P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity IL-1beta up-regulated COX-2 expression in terms of mRNA and protein in microvascular endothelial cells released from human foreskin (up-regulation as a function of time was studied) microvascular endothelial cell BTO:0003123 Y Y PubMed:21277871 PENTACON inducible:IL-1beta AAP, DGA 4/21/2014 3 3300009187 Faith P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity Tumor cells conditioned media induced PTGS2 mRNA and protein levels in a time-dependent manner microvascular endothelial cell BTO:0003123 Y Y PubMed:21277871 PENTACON inducible:tumor cells conditioned media AAP, DGA 4/21/2014 3 3300009188 Faith P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity PTGS2 protein and mRNA was induced by IL-1beta in vascular smooth muscle cells isolated from aorta (time course study) aortic smooth muscle cell BTO:0004577 Y Y PubMed:17403097 PENTACON inducible:IL-1beta AAP, DGA 4/21/2014 3 3300009189 Faith P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity In PBMC isolated from healthy male donors, PTGS2 expression (mRNA) was induced by 7alpha-hydroxy-DHEA (10 nM) after 24 h exposure peripheral blood mononuclear cell BTO:0001025 Y Y PubMed:18555503 PENTACON inducible:7alpha-hydroxy-DHEA AAP, DGA 4/21/2014 3 3300009190 Faith P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity In PBMC isolated from healthy male donors, PTGS2 expression (mRNA and protein) was induced by TNF-alpha (10 ng/mL) after 4 and 24 h exposure peripheral blood mononuclear cell BTO:0001025 Y Y PubMed:18555503 PENTACON inducible:TNF-alpha AAP, DGA 4/21/2014 3 3300009191 Faith P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity In PBMC isolated from healthy male donors, PTGS2 expression (mRNA) was induced by 7alpha-hydroxy-DHEA (1, 10, and 100 nM) + TNF-alpha (10 ng/mL) after 4 h exposure peripheral blood mononuclear cell BTO:0001025 Y Y PubMed:18555503 PENTACON inducible:7alpha-hydroxy-DHEA + TNF-alpha AAP, DGA 4/21/2014 3 3300009192 Faith P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity In PBMC isolated from healthy male donors, PTGS2 expression (mRNA) was induced by 7beta-hydroxy-DHEA (100 nM) after 4 and 24 h exposure peripheral blood mononuclear cell BTO:0001025 Y Y PubMed:18555503 PENTACON inducible:7beta-hydroxy-DHEA AAP, DGA 4/21/2014 3 3300009193 Faith P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity In PBMC isolated from healthy male donors, PTGS2 expression (mRNA) was induced by 7beta-hydroxy-DHEA (1 and 10 nM) + TNF-alpha (10 ng/mL) after 4 h exposure peripheral blood mononuclear cell BTO:0001025 Y Y PubMed:18555503 PENTACON inducible:7beta-hydroxy-DHEA + TNF-alpha AAP, DGA 4/21/2014 3 3300009194 Faith P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity In PBMC isolated from healthy male donors, PTGS2 expression (mRNA) was induced by 7beta-hydroxy-EpiA (1 nM) + TNF-alpha (10 ng/mL) after 4 and 24 h exposure peripheral blood mononuclear cell BTO:0001025 Y Y PubMed:18555503 PENTACON inducible:7beta-hydroxy-EpiA + TNF-alpha AAP, DGA 4/21/2014 3 3300009195 Faith P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity PTGS2 mRNA was detected in prostate, uterus, small intestine, mammary gland, stomach, lung, thymus, liver, kidney, testis, pancreas, and brain prostate gland BTO:0001129 Y Y PubMed:8365485 PENTACON pool 5 adult male AAP, DGA 4/21/2014 3 3300009196 Faith P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity PTGS2 mRNA was detected in prostate, uterus, small intestine, mammary gland, stomach, lung, thymus, liver, kidney, testis, pancreas, and brain prostate gland UBERON:0002367 Y Y PubMed:8365485 PENTACON pool 5 adult male AAP, DGA 4/21/2014 3 3300009197 Faith P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity PTGS2 mRNA was detected in prostate, uterus, small intestine, mammary gland, stomach, lung, thymus, liver, kidney, testis, pancreas, and brain uterus BTO:0001424 Y Y PubMed:8365485 PENTACON adult female AAP, DGA 4/21/2014 3 3300009198 Faith P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity PTGS2 mRNA was detected in prostate, uterus, small intestine, mammary gland, stomach, lung, thymus, liver, kidney, testis, pancreas, and brain uterus UBERON:0000995 Y Y PubMed:8365485 PENTACON adult female AAP, DGA 4/21/2014 3 3300009199 Faith P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity PTGS2 mRNA was detected in prostate, uterus, small intestine, mammary gland, stomach, lung, thymus, liver, kidney, testis, pancreas, and brain small intestine BTO:0000651 Y Y PubMed:8365485 PENTACON adult female AAP, DGA 4/21/2014 3 3300009200 Faith P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity PTGS2 mRNA was detected in prostate, uterus, small intestine, mammary gland, stomach, lung, thymus, liver, kidney, testis, pancreas, and brain small intestine UBERON:0002108 Y Y PubMed:8365485 PENTACON adult female AAP, DGA 4/21/2014 3 3300009201 Faith P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity PTGS2 mRNA was detected in prostate, uterus, small intestine, mammary gland, stomach, lung, thymus, liver, kidney, testis, pancreas, and brain mammary gland BTO:0000817 Y Y PubMed:8365485 PENTACON pool 2 non-lactating females AAP, DGA 4/21/2014 3 3300009202 Faith P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity PTGS2 mRNA was detected in prostate, uterus, small intestine, mammary gland, stomach, lung, thymus, liver, kidney, testis, pancreas, and brain mammary gland UBERON:0001911 Y Y PubMed:8365485 PENTACON pool 2 non-lactating females AAP, DGA 4/21/2014 3 3300009203 Faith P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity PTGS2 mRNA was detected in prostate, uterus, small intestine, mammary gland, stomach, lung, thymus, liver, kidney, testis, pancreas, and brain stomach BTO:0001307 Y Y PubMed:8365485 PENTACON adult female AAP, DGA 4/21/2014 3 3300009204 Faith P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity PTGS2 mRNA was detected in prostate, uterus, small intestine, mammary gland, stomach, lung, thymus, liver, kidney, testis, pancreas, and brain stomach UBERON:0000945 Y Y PubMed:8365485 PENTACON adult female AAP, DGA 4/21/2014 3 3300009205 Faith P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity PTGS2 mRNA was detected in prostate, uterus, small intestine, mammary gland, stomach, lung, thymus, liver, kidney, testis, pancreas, and brain lung BTO:0000763 Y Y PubMed:8365485 PENTACON adult female AAP, DGA 4/21/2014 3 3300009206 Faith P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity PTGS2 mRNA was detected in prostate, uterus, small intestine, mammary gland, stomach, lung, thymus, liver, kidney, testis, pancreas, and brain lung UBERON:0002048 Y Y PubMed:8365485 PENTACON adult female AAP, DGA 4/21/2014 3 3300009207 Faith P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity PTGS2 mRNA was detected in prostate, uterus, small intestine, mammary gland, stomach, lung, thymus, liver, kidney, testis, pancreas, and brain thymus BTO:0001374 Y Y PubMed:8365485 PENTACON 3 year old male AAP, DGA 4/21/2014 3 3300009208 Faith P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity PTGS2 mRNA was detected in prostate, uterus, small intestine, mammary gland, stomach, lung, thymus, liver, kidney, testis, pancreas, and brain thymus UBERON:0002370 Y Y PubMed:8365485 PENTACON 3 year old male AAP, DGA 4/21/2014 3 3300009209 Faith P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity PTGS2 mRNA was detected in prostate, uterus, small intestine, mammary gland, stomach, lung, thymus, liver, kidney, testis, pancreas, and brain liver BTO:0000759 Y Y PubMed:8365485 PENTACON adult female;adult male AAP, DGA 4/21/2014 3 3300009210 Faith P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity PTGS2 mRNA was detected in prostate, uterus, small intestine, mammary gland, stomach, lung, thymus, liver, kidney, testis, pancreas, and brain liver UBERON:0002107 Y Y PubMed:8365485 PENTACON adult female;adult male AAP, DGA 4/21/2014 3 3300009211 Faith P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity PTGS2 mRNA was detected in prostate, uterus, small intestine, mammary gland, stomach, lung, thymus, liver, kidney, testis, pancreas, and brain kidney BTO:0000671 Y Y PubMed:8365485 PENTACON adult male AAP, DGA 4/21/2014 3 3300009212 Faith P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity PTGS2 mRNA was detected in prostate, uterus, small intestine, mammary gland, stomach, lung, thymus, liver, kidney, testis, pancreas, and brain kidney UBERON:0002113 Y Y PubMed:8365485 PENTACON adult male AAP, DGA 4/21/2014 3 3300009213 Faith P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity PTGS2 mRNA was detected in prostate, uterus, small intestine, mammary gland, stomach, lung, thymus, liver, kidney, testis, pancreas, and brain testis BTO:0001363 Y Y PubMed:8365485 PENTACON AAP, DGA 4/21/2014 3 3300009214 Faith P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity PTGS2 mRNA was detected in prostate, uterus, small intestine, mammary gland, stomach, lung, thymus, liver, kidney, testis, pancreas, and brain testis UBERON:0000473 Y Y PubMed:8365485 PENTACON AAP, DGA 4/21/2014 3 3300009215 Faith P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity PTGS2 mRNA was detected in prostate, uterus, small intestine, mammary gland, stomach, lung, thymus, liver, kidney, testis, pancreas, and brain pancreas BTO:0000988 Y Y PubMed:8365485 PENTACON adult male AAP, DGA 4/21/2014 3 3300009216 Faith P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity PTGS2 mRNA was detected in prostate, uterus, small intestine, mammary gland, stomach, lung, thymus, liver, kidney, testis, pancreas, and brain pancreas UBERON:0001264 Y Y PubMed:8365485 PENTACON adult male AAP, DGA 4/21/2014 3 3300009217 Faith P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity PTGS2 mRNA was detected in prostate, uterus, small intestine, mammary gland, stomach, lung, thymus, liver, kidney, testis, pancreas, and brain brain BTO:0000142 Y Y PubMed:8365485 PENTACON adult male AAP, DGA 4/21/2014 3 3300009218 Faith P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity PTGS2 mRNA was detected in prostate, uterus, small intestine, mammary gland, stomach, lung, thymus, liver, kidney, testis, pancreas, and brain brain UBERON:0000955 Y Y PubMed:8365485 PENTACON adult male AAP, DGA 4/21/2014 3 3300009219 Faith P21731 6915 TBXA2R Homo sapiens 9606 Comment/tissue specificity Isoform: P21731-2;Isoform 2;Beta HUVEC cell BTO:0001949 Y Y PubMed:8034687 PubMed:9838218 PENTACON down regulated when stimulated with endoperoxide analog U46619 AAP, DGA 4/21/2014 3 3300009220 Faith P21731 6915 TBXA2R Homo sapiens 9606 Comment/tissue specificity Isoform: P21731-2;Isoform 2;Beta HEL-92.1.7 cell BTO:0003320 HEL 92.1.7 cell CLO:0003682 Y Y PubMed:9838218 PENTACON AAP, DGA 4/21/2014 3 3300009221 Faith P21731 6915 TBXA2R Homo sapiens 9606 Comment/tissue specificity Isoform: P21731-2;Isoform 2;Beta aortic smooth muscle cell BTO:0004577 immortal smooth muscle cell line cell CLO:0000078 Y Y PubMed:9838218 PENTACON AAP, DGA 4/21/2014 3 3300009222 Faith P21731 6915 TBXA2R Homo sapiens 9606 Comment/tissue specificity Isoform: P21731-2;Isoform 2;Beta aortic smooth muscle cell BTO:0004577 fetus BTO:0000449 immortal smooth muscle cell line cell CLO:0000078 Y Y PubMed:9838218 PENTACON AAP, DGA 4/21/2014 3 3300009223 Faith P21731 6915 TBXA2R Homo sapiens 9606 Comment/tissue specificity Isoform: P21731-2;Isoform 2;Beta uterus BTO:0001424 Y Y PubMed:9838218 PENTACON AAP, DGA 4/21/2014 3 3300009224 Faith P21731 6915 TBXA2R Homo sapiens 9606 Comment/tissue specificity Isoform: P21731-2;Isoform 2;Beta uterus UBERON:0000995 Y Y PubMed:9838218 PENTACON AAP, DGA 4/21/2014 3 3300009225 Faith P21731 6915 TBXA2R Homo sapiens 9606 Comment/tissue specificity Isoform: P21731-2;Isoform 2;Beta brain BTO:0000142 Y Y PubMed:9838218 PENTACON AAP, DGA 4/21/2014 3 3300009226 Faith P21731 6915 TBXA2R Homo sapiens 9606 Comment/tissue specificity Isoform: P21731-2;Isoform 2;Beta brain UBERON:0000955 Y Y PubMed:9838218 PENTACON AAP, DGA 4/21/2014 3 3300009227 Faith P21731 6915 TBXA2R Homo sapiens 9606 Comment/tissue specificity Isoform: P21731-2;Isoform 2;Beta brain BTO:0000142 fetus BTO:0000449 Y Y PubMed:9838218 PENTACON AAP, DGA 4/21/2014 3 3300009228 Faith P21731 6915 TBXA2R Homo sapiens 9606 Comment/tissue specificity Isoform: P21731-2;Isoform 2;Beta brain UBERON:0000955 fetus BTO:0000449 Y Y PubMed:9838218 PENTACON AAP, DGA 4/21/2014 3 3300009229 Faith P21731 6915 TBXA2R Homo sapiens 9606 Comment/tissue specificity Isoform: P21731-2;Isoform 2;Beta thymus BTO:0001374 Y Y PubMed:9838218 PENTACON AAP, DGA 4/21/2014 3 3300009230 Faith P21731 6915 TBXA2R Homo sapiens 9606 Comment/tissue specificity Isoform: P21731-2;Isoform 2;Beta thymus UBERON:0002370 Y Y PubMed:9838218 PENTACON AAP, DGA 4/21/2014 3 3300009231 Faith P21731 6915 TBXA2R Homo sapiens 9606 Comment/tissue specificity Isoform: P21731-2;Isoform 2;Beta small intestine BTO:0000651 Y Y PubMed:9838218 PENTACON AAP, DGA 4/21/2014 3 3300009232 Faith P21731 6915 TBXA2R Homo sapiens 9606 Comment/tissue specificity Isoform: P21731-2;Isoform 2;Beta small intestine UBERON:0002108 Y Y PubMed:9838218 PENTACON AAP, DGA 4/21/2014 3 3300009233 Faith P21731 6915 TBXA2R Homo sapiens 9606 Comment/tissue specificity Isoform: P21731-2;Isoform 2;Beta liver BTO:0000759 Y Y PubMed:9838218 PENTACON AAP, DGA 4/21/2014 3 3300009234 Faith P21731 6915 TBXA2R Homo sapiens 9606 Comment/tissue specificity Isoform: P21731-2;Isoform 2;Beta liver UBERON:0002107 Y Y PubMed:9838218 PENTACON AAP, DGA 4/21/2014 3 3300009235 Faith P21731 6915 TBXA2R Homo sapiens 9606 Comment/tissue specificity Isoform: P21731-3;Isoform 1;Alpha HEL-92.1.7 cell BTO:0003320 HEL 92.1.7 cell CLO:0003682 Y Y PubMed:9838218 PENTACON AAP, DGA 4/21/2014 3 3300009236 Faith P21731 6915 TBXA2R Homo sapiens 9606 Comment/tissue specificity Isoform: P21731-3;Isoform 1;Alpha aortic smooth muscle cell BTO:0004577 immortal smooth muscle cell line cell CLO:0000078 Y Y PubMed:9838218 PENTACON AAP, DGA 4/21/2014 3 3300009237 Faith P21731 6915 TBXA2R Homo sapiens 9606 Comment/tissue specificity Isoform: P21731-3;Isoform 1;Alpha aortic smooth muscle cell BTO:0004577 fetus BTO:0000449 immortal smooth muscle cell line cell CLO:0000078 Y Y PubMed:9838218 PENTACON AAP, DGA 4/21/2014 3 3300009238 Faith P21731 6915 TBXA2R Homo sapiens 9606 Comment/tissue specificity Isoform: P21731-3;Isoform 1;Alpha uterus BTO:0001424 Y Y PubMed:9838218 PENTACON AAP, DGA 4/21/2014 3 3300009239 Faith P21731 6915 TBXA2R Homo sapiens 9606 Comment/tissue specificity Isoform: P21731-3;Isoform 1;Alpha uterus UBERON:0000995 Y Y PubMed:9838218 PENTACON AAP, DGA 4/21/2014 3 3300009240 Faith P21731 6915 TBXA2R Homo sapiens 9606 Comment/tissue specificity Isoform: P21731-3;Isoform 1;Alpha HUVEC cell BTO:0001949 Y Y PubMed:9838218 PENTACON Does not agree with 8034687 AAP, DGA 4/21/2014 3 3300009241 Faith P21731 6915 TBXA2R Homo sapiens 9606 Comment/tissue specificity Isoform: P21731-3;Isoform 1;Alpha brain BTO:0000142 Y Y PubMed:9838218 PENTACON AAP, DGA 4/21/2014 3 3300009242 Faith P21731 6915 TBXA2R Homo sapiens 9606 Comment/tissue specificity Isoform: P21731-3;Isoform 1;Alpha brain UBERON:0000955 Y Y PubMed:9838218 PENTACON AAP, DGA 4/21/2014 3 3300009243 Faith P21731 6915 TBXA2R Homo sapiens 9606 Comment/tissue specificity Isoform: P21731-3;Isoform 1;Alpha brain BTO:0000142 fetus BTO:0000449 Y Y PubMed:9838218 PENTACON AAP, DGA 4/21/2014 3 3300009244 Faith P21731 6915 TBXA2R Homo sapiens 9606 Comment/tissue specificity Isoform: P21731-3;Isoform 1;Alpha brain UBERON:0000955 fetus BTO:0000449 Y Y PubMed:9838218 PENTACON AAP, DGA 4/21/2014 3 3300009245 Faith P21731 6915 TBXA2R Homo sapiens 9606 Comment/tissue specificity Isoform: P21731-3;Isoform 1;Alpha thymus BTO:0001374 Y Y PubMed:9838218 PENTACON AAP, DGA 4/21/2014 3 3300009246 Faith P21731 6915 TBXA2R Homo sapiens 9606 Comment/tissue specificity Isoform: P21731-3;Isoform 1;Alpha thymus UBERON:0002370 Y Y PubMed:9838218 PENTACON AAP, DGA 4/21/2014 3 3300009247 Faith P21731 6915 TBXA2R Homo sapiens 9606 Comment/tissue specificity Isoform: P21731-3;Isoform 1;Alpha small intestine BTO:0000651 Y Y PubMed:9838218 PENTACON AAP, DGA 4/21/2014 3 3300009248 Faith P21731 6915 TBXA2R Homo sapiens 9606 Comment/tissue specificity Isoform: P21731-3;Isoform 1;Alpha small intestine UBERON:0002108 Y Y PubMed:9838218 PENTACON AAP, DGA 4/21/2014 3 3300009249 Faith P21731 6915 TBXA2R Homo sapiens 9606 Comment/tissue specificity Isoform: P21731-3;Isoform 1;Alpha liver BTO:0000759 Y Y PubMed:9838218 PENTACON AAP, DGA 4/21/2014 3 3300009250 Faith P21731 6915 TBXA2R Homo sapiens 9606 Comment/tissue specificity Isoform: P21731-3;Isoform 1;Alpha liver UBERON:0002107 Y Y PubMed:9838218 PENTACON AAP, DGA 4/21/2014 3 3300009251 Faith P21731 6915 TBXA2R Homo sapiens 9606 Comment/tissue specificity TBXA2R protein was detected in HUVECs HUVEC cell BTO:0001949 Y Y PubMed:11483590 PENTACON AAP, DGA 4/21/2014 3 3300009252 Faith P24557 6916 TBXAS1 Homo sapiens 9606 Comment/tissue specificity TBXAS1 mRNA is up-regulated by high shear stimulation (defined as 25 dyn/cm^2 in PubMed:10694510). Up-regulation is time-dependent. HUVEC cell BTO:0001949 Y Y PubMed:10694510 PENTACON inducible: high shear stress AAP, DGA 4/21/2014 3 3300009253 Faith P24557 6916 TBXAS1 Homo sapiens 9606 Comment/tissue specificity TBXAS1 mRNA expression was induced in a human endothelial cell line derived from a patient with angiosarcoma by treatment with TNFalpha (10 ng/ml) and high glucose (30 mM) after 2 h. endothelial cell line BTO:0001519 Y Y PubMed:21040737 PENTACON inducible: TNF-alpha and high glucose AAP, DGA 4/21/2014 3 3300009254 Faith P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity Prostaglandins, endogenously formed via the COX-2 (PTGS2) pathway stimulate the expression of functionally active thrombomodulin in human coronary artery smooth muscle cells. Because thrombomodulin is an important inhibitor of blood coagulation, these findings provide a novel platelet-independent mechanism to explain the prothrombotic effects of COX-2 inhibitors. coronary artery smooth muscle cell BTO:0005101 smooth muscle cell of the coronary artery CL:0002592 atherosclerosis DOID:1936 Y Y ECO:0000006 PubMed:15591227 PENTACON From review: PubMed:20059330; FC: No DOID term. No evidence in article for venous thrombosis or myocardial infarction (the adverse cardiovascular events from Fig 2). There may be evidence in a cited article. May require follow up with Tilo/Katie. (JR: I think that what the figure is saying is that thrombosis can lead to venous thrombosis or myocardial infarction, and that upregulation of thrombomodulin by COX2 is decreasing the likelihood of thrombosis, so COX2 is decreasing the likelihood of these outcomes and playing a protective role, consistent with what Tilo said above.) AAP, DGA 4/21/2014 3 3300009255 Jenn P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity a minimal to marked COX-2 expression was observed in the macula densa and TAL of several subjects with a clinical history of diabetes, hypertension, or CHF Henles loop BTO:0004608 hypertension DOID:10763 Y Y ECO:0000006 Pubmed:11499548 PENTACON From review: Pubmed:17361113; From review: Pubmed:19095631 AAP, DGA 4/21/2014 3 3300009258 Jenn P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity a minimal to marked COX-2 expression was observed in the macula densa and TAL of several subjects with a clinical history of diabetes, hypertension, or CHF thick ascending limb of loop of Henle UBERON:0001291 hypertension DOID:10763 Y Y ECO:0000006 Pubmed:11499548 PENTACON From review: Pubmed:17361113; From review: Pubmed:19095631 AAP, DGA 4/21/2014 3 3300009259 Jenn P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity a minimal to marked COX-2 expression was observed in the macula densa and TAL of several subjects with a clinical history of diabetes, hypertension, or CHF macula densa BTO:0003940 hypertension DOID:10763 Y Y ECO:0000006 Pubmed:11499548 PENTACON From review: Pubmed:17361113; From review: Pubmed:19095631 AAP, DGA 4/21/2014 3 3300009260 Jenn P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity a minimal to marked COX-2 expression was observed in the macula densa and TAL of several subjects with a clinical history of diabetes, hypertension, or CHF macula densa UBERON:0002335 hypertension DOID:10763 Y Y ECO:0000006 Pubmed:11499548 PENTACON From review: Pubmed:17361113; From review: Pubmed:19095631 AAP, DGA 4/21/2014 3 3300009261 Jenn/Faith P23219 5742 PTGS1 Homo sapiens 9606 Comment/tissue specificity COX-1–derived platelet thromboxane (Txa2) contributes to cardiac fibrosis parenchyma BTO:0001539 cardiac muscle cell CL:0000746 heart disease DOID:114 Y Y ECO:0000033 Pubmed:16395396 PENTACON COX1 produces TXA2 which has a contributing effect to cardiac fibrosis AAP, DGA 4/21/2014 3 3300009262 Jenn/Faith P23219 5742 PTGS1 Homo sapiens 9606 Comment/tissue specificity COX-1–derived platelet thromboxane (Txa2) contributes to cardiac fibrosis cardiac muscle tissue UBERON:0001133 cardiac muscle cell CL:0000746 heart disease DOID:114 Y Y ECO:0000033 Pubmed:16395396 PENTACON COX1 produces TXA2 which has a contributing effect to cardiac fibrosis AAP, DGA 4/21/2014 3 3300009263 Jenn/Faith P23219 5742 PTGS1 Homo sapiens 9606 Comment/tissue specificity COX-1 mRNA was expressed in both normal and atherosclerotic sections but appeared to be induced in atherosclerotic tissue artery wall BTO:0002009 atherosclerosis DOID:1936 Atherosclerosis of artery SNOMEDCT:441574008 Y Y ECO:0000006 Pubmed:10952950 PENTACON From review: Pubmed:16395396; inducible AAP, DGA 4/21/2014 3 3300009264 Jenn/Faith P23219 5742 PTGS1 Homo sapiens 9606 Comment/tissue specificity COX-1 mRNA was expressed in both normal and atherosclerotic sections but appeared to be induced in atherosclerotic tissue artery wall UBERON:0000415 atherosclerosis DOID:1936 Atherosclerosis of artery SNOMEDCT:441574008 Y Y ECO:0000006 Pubmed:10952950 PENTACON From review: Pubmed:16395396; inducible AAP, DGA 4/21/2014 3 3300009265 Jenn P35354 5743 PTGS2 Homo sapiens 9606 Comment/Involvement in disease COX-2 mRNA expression was not detected in 5 normal arterial sections that were obtained postmortem from young individuals who had no gross or microscopic evidence of atherosclerosis. However, all 10 samples analyzed from patients with atherosclerosis showed COX-2 mRNA expression atherosclerosis DOID:1936 Y Y ECO:0000006 Pubmed:10952950 PENTACON From review: Pubmed:16395396 AAP, DGA 4/21/2014 3 3300009266 Jenn P35354 5743 PTGS2 Homo sapiens 9606 Comment/Involvement in disease COX-2 mRNA expression was not detected in 5 normal arterial sections that were obtained postmortem from young individuals who had no gross or microscopic evidence of atherosclerosis. However, all 10 samples analyzed from patients with atherosclerosis showed COX-2 mRNA expression Atherosclerosis of artery SNOMEDCT:441574008 Y Y ECO:0000006 Pubmed:10952950 PENTACON From review: Pubmed:16395396 AAP, DGA 4/21/2014 3 3300009267 Jenn P35354 5743 PTGS2 Homo sapiens 9606 Comment/Involvement in disease Low to undetectable levels of COX2 are present in normal mucosa samples however a COX2 transcript is apparent in 12 of 14 colorectal carcinomas colon mucinous adenocarcinoma DOID:3029 Y Y ECO:0000006 Pubmed:7926468 PENTACON From review: PMID: 20168319 AAP, DGA 4/21/2014 3 3300009268 Jenn P35354 5743 PTGS2 Homo sapiens 9606 Comment/Involvement in disease Low to undetectable levels of COX2 are present in normal mucosa samples however a COX2 transcript is apparent in 12 of 14 colorectal carcinomas colon mucinous adenocarcinoma DOID:3029 Y Y ECO:0000033 PMID: 20168319 PENTACON AAP, DGA 4/21/2014 3 3300009269 Jenn P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity a minimal to marked COX-2 expression was observed in the macula densa and TAL of several subjects with a clinical history of diabetes, hypertension, or CHF Henles loop BTO:0004608 congestive heart failure DOID:6000 Y Y ECO:0000006 Pubmed:11499548 PENTACON From review: Pubmed:17361113; From review: Pubmed:19095631 AAP, DGA 4/21/2014 3 3300009270 Jenn P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity a minimal to marked COX-2 expression was observed in the macula densa and TAL of several subjects with a clinical history of diabetes, hypertension, or CHF thick ascending limb of loop of Henle UBERON:0001291 congestive heart failure DOID:6000 Y Y ECO:0000006 Pubmed:11499548 PENTACON From review: Pubmed:17361113; From review: Pubmed:19095631 AAP, DGA 4/21/2014 3 3300009271 Jenn P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity a minimal to marked COX-2 expression was observed in the macula densa and TAL of several subjects with a clinical history of diabetes, hypertension, or CHF macula densa BTO:0003940 congestive heart failure DOID:6000 Y Y ECO:0000006 Pubmed:11499548 PENTACON From review: Pubmed:17361113; From review: Pubmed:19095631 AAP, DGA 4/21/2014 3 3300009272 Jenn P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity a minimal to marked COX-2 expression was observed in the macula densa and TAL of several subjects with a clinical history of diabetes, hypertension, or CHF macula densa UBERON:0002335 congestive heart failure DOID:6000 Y Y ECO:0000006 Pubmed:11499548 PENTACON From review: Pubmed:17361113; From review: Pubmed:19095631 AAP, DGA 4/21/2014 3 3300009273 Jenn P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity During the trial, the rofecoxib group showed increased blood pressure and higher incidence of congestive heart failure, pulmonary edema, and cardiac failure positive regulation of blood pressure GO:0045777 congestive heart failure DOID:6000 rofecoxib CHEBI:8887 Y Y ECO:0000006 Pubmed:15713943 PENTACON From review: Pubmed:18834304 AAP, DGA 4/21/2014 3 3300009274 Jenn P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity a minimal to marked COX-2 expression was observed in the macula densa and TAL of several subjects with a clinical history of diabetes, hypertension, or CHF Henles loop BTO:0004608 diabetes mellitus DOID:9351 Y Y ECO:0000006 Pubmed:11499548 PENTACON From review: Pubmed:17361113; From review: Pubmed:19095631 AAP, DGA 4/21/2014 3 3300009275 Jenn P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity a minimal to marked COX-2 expression was observed in the macula densa and TAL of several subjects with a clinical history of diabetes, hypertension, or CHF thick ascending limb of loop of Henle UBERON:0001291 diabetes mellitus DOID:9351 Y Y ECO:0000006 Pubmed:11499548 PENTACON From review: Pubmed:17361113; From review: Pubmed:19095631 AAP, DGA 4/21/2014 3 3300009276 Jenn P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity a minimal to marked COX-2 expression was observed in the macula densa and TAL of several subjects with a clinical history of diabetes, hypertension, or CHF macula densa BTO:0003940 diabetes mellitus DOID:9351 Y Y ECO:0000006 Pubmed:11499548 PENTACON From review: Pubmed:17361113; From review: Pubmed:19095631 AAP, DGA 4/21/2014 3 3300009277 Jenn P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity a minimal to marked COX-2 expression was observed in the macula densa and TAL of several subjects with a clinical history of diabetes, hypertension, or CHF macula densa UBERON:0002335 diabetes mellitus DOID:9351 Y Y ECO:0000006 Pubmed:11499548 PENTACON From review: Pubmed:17361113; From review: Pubmed:19095631 AAP, DGA 4/21/2014 3 3300009278 Jenn/Faith P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity Celecoxib produced similar inhibitory effects on this index of monocyte COX-2 activity monocyte BTO:0000876 monocyte CL:0000576 Y Y ECO:0000006 Pubmed:9874808 PENTACON From review: Pubmed:17003913;From review: Pubmed:20059330 AAP, DGA 4/21/2014 3 3300009279 Jenn P23219 5742 PTGS1 Homo sapiens 9606 Comment/tissue specificity COX-1 activity in platelets causes platelet aggregation, vasoconstriction, and vascular proliferation platelet aggregation GO:0070527 blood platelet BTO:0000132 platelet CL:0000233 Y Y ECO:0000033 Pubmed:15470192 PENTACON From review: 20168319 AAP, DGA 4/21/2014 3 3300009280 Jenn P23219 5742 PTGS1 Homo sapiens 9606 Comment/tissue specificity COX-1 activity in platelets causes platelet aggregation, vasoconstriction, and vascular proliferation vasoconstriction GO:0042310 blood platelet BTO:0000132 platelet CL:0000233 Y Y ECO:0000033 Pubmed:15470192 PENTACON From review: 20168319 AAP, DGA 4/21/2014 3 3300009281 Jenn P23219 5742 PTGS1 Homo sapiens 9606 Comment/tissue specificity COX-1 and -2 were expressed at equal levels in kidney cortex, but COX-1 was more abundant than COX-2 in outer and inner medulla renal cortex BTO:0001166 Y Y ECO:0000006 Pubmed:15100359 PENTACON From review: Pubmed:17003913 AAP, DGA 4/21/2014 3 3300009282 Jenn P23219 5742 PTGS1 Homo sapiens 9606 Comment/tissue specificity COX-1 and -2 were expressed at equal levels in kidney cortex, but COX-1 was more abundant than COX-2 in outer and inner medulla cortex of kidney UBERON:0001225 Y Y ECO:0000006 Pubmed:15100359 PENTACON From review: Pubmed:17003913 AAP, DGA 4/21/2014 3 3300009283 Jenn P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity COX-1 and -2 were expressed at equal levels in kidney cortex, but COX-1 was more abundant than COX-2 in outer and inner medulla renal cortex BTO:0001166 Y Y ECO:0000006 Pubmed:15100359 PENTACON From review: Pubmed:17003913 AAP, DGA 4/21/2014 3 3300009284 Jenn P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity COX-1 and -2 were expressed at equal levels in kidney cortex, but COX-1 was more abundant than COX-2 in outer and inner medulla cortex of kidney UBERON:0001225 Y Y ECO:0000006 Pubmed:15100359 PENTACON From review: Pubmed:17003913 AAP, DGA 4/21/2014 3 3300009285 Jenn P23219 5742 PTGS1 Homo sapiens 9606 Comment/tissue specificity COX-1 and -2 were expressed at equal levels in kidney cortex, but COX-1 was more abundant than COX-2 in outer and inner medulla renal medulla BTO:0001167 Y Y ECO:0000006 Pubmed:15100359 PENTACON From review: Pubmed:17003913 AAP, DGA 4/21/2014 3 3300009286 Jenn P23219 5742 PTGS1 Homo sapiens 9606 Comment/tissue specificity COX-1 and -2 were expressed at equal levels in kidney cortex, but COX-1 was more abundant than COX-2 in outer and inner medulla renal medulla UBERON:0000362 Y Y ECO:0000006 Pubmed:15100359 PENTACON From review: Pubmed:17003913 AAP, DGA 4/21/2014 3 3300009287 Jenn P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity COX-1 and -2 were expressed at equal levels in kidney cortex, but COX-1 was more abundant than COX-2 in outer and inner medulla renal medulla BTO:0001167 Y Y ECO:0000006 Pubmed:15100359 PENTACON From review: Pubmed:17003913 AAP, DGA 4/21/2014 3 3300009288 Jenn P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity COX-1 and -2 were expressed at equal levels in kidney cortex, but COX-1 was more abundant than COX-2 in outer and inner medulla renal medulla UBERON:0000362 Y Y ECO:0000006 Pubmed:15100359 PENTACON From review: Pubmed:17003913 AAP, DGA 4/21/2014 3 3300009289 Jenn P23219 5742 PTGS1 Homo sapiens 9606 Comment/tissue specificity Expression of COX-1 was increased in monocytes ex vivo, most markedly in cells isolated from blood drawn 30 minutes after LPS injection monocyte BTO:0000876 monocyte CL:0000576 Y Y ECO:0000006 Pubmed:10811855 PENTACON From review: Pubmed:19095631; From review: Pubmed:21508345; inducible by LPS AAP, DGA 4/21/2014 3 3300009290 Jenn/Faith P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity extracts from cultured human umbilical vein endothelial cells challenged with 20 nM phorbol myristate acetate (PMA) showed an increase in COX-2 immunoreactivity related both to the increase in enzyme activity and the variations observed by Western blot analysis. Under these conditions, analysis of the same cell lysates with another immunometric assay specific for COX-1 revealed insignificant variation of this enzyme. HUVEC cell BTO:0001949 endothelial cell of umbilical vein CL:0002618 phorbol 13-acetate 12-myristate CHEBI:37537 Y Y ECO:0000006 Pubmed:7857975 PENTACON From review: PubMed:16395396; inducible by PMA AAP, DGA 4/21/2014 3 3300009291 Jenn/Faith P23219 5742 PTGS1 Homo sapiens 9606 Comment/tissue specificity extracts from cultured human umbilical vein endothelial cells challenged with 20 nM phorbol myristate acetate (PMA) showed an increase in COX-2 immunoreactivity related both to the increase in enzyme activity and the variations observed by Western blot analysis. Under these conditions, analysis of the same cell lysates with another immunometric assay specific for COX-1 revealed insignificant variation of this enzyme. HUVEC cell BTO:0001949 endothelial cell of umbilical vein CL:0002618 Y Y ECO:0000006 Pubmed:7857975 PENTACON From review: PubMed:16395396 AAP, DGA 4/21/2014 3 3300009292 Jenn P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity In situ detection of COX-2 mRNA in the endothelium of a human umbilical artery umbilical artery endothelium BTO:0000857 Y Y ECO:0000006 Pubmed:16395396 PENTACON AAP, DGA 4/21/2014 3 3300009293 Jenn P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity In situ detection of COX-2 mRNA in the endothelium of a human umbilical artery umbilical artery endothelium UBERON:0007778 Y Y ECO:0000006 Pubmed:16395396 PENTACON AAP, DGA 4/21/2014 3 3300009294 Jenn P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity After 24 h of incubation in serum-free medium, the unstimulated HASMCs produced small amount of COX-2 mRNA. However, for HASMCs treated with 100 ng/ml of LPS, the amount of COX-2 mRNA first increased to a maximum after 2 h of treatment, then decreased gradually. This increase was markedly inhibited by 24 h preincubation with 10 µM Sal B aortic smooth muscle cell BTO:0004577 aortic smooth muscle cell CL:0002539 lipopolysaccharide CHEBI:16412 Y Y ECO:0000006 Pubmed:16440326 PENTACON From review: Pubmed:17003913; inducible by LPS AAP, DGA 4/21/2014 3 3300009303 Jenn P23219 5742 PTGS1 Homo sapiens 9606 Comment/tissue specificity After exposure to cholesterol-deficient medium with or without LDL for 24 hours, LDL decreased COX-2 message in a dose-dependent manner. RT-PCR analysis determined that LDL had no effect on the expression of COX-1 and PGIS. HUVEC cell BTO:0001949 Y Y ECO:0000006 Pubmed:12067908 PENTACON From review: Pubmed:18834304 AAP, DGA 4/21/2014 3 3300009304 Jenn P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity After exposure to cholesterol-deficient medium with or without LDL for 24 hours, LDL decreased COX-2 message in a dose-dependent manner. RT-PCR analysis determined that LDL had no effect on the expression of COX-1 and PGIS. HUVEC cell BTO:0001949 Y Y ECO:0000006 Pubmed:12067908 PENTACON From review: Pubmed:18834304 AAP, DGA 4/21/2014 3 3300009305 Jenn/Faith P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity Co-incubation with platelets for 20 h induced COX-2 in a dose-dependent manner. IL-1β (1 ng/ml) also induced COX-2. By comparison, COX-1 was detectable in untreated cells, and its expression did not change with platelet addition or IL-1β treatment HUVEC cell BTO:0001949 endothelial cell of umbilical vein CL:0002618 Y Y ECO:0000006 Pubmed:11483590 PENTACON From review: Pubmed:21508345; inducible by IL-beta and coincubation with platelets AAP, DGA 4/21/2014 3 3300009310 Jenn/Faith P23219 5742 PTGS1 Homo sapiens 9606 Comment/tissue specificity Co-incubation with platelets for 20 h induced COX-2 in a dose-dependent manner. IL-1β (1 ng/ml) also induced COX-2. By comparison, COX-1 was detectable in untreated cells, and its expression did not change with platelet addition or IL-1β treatment HUVEC cell BTO:0001949 endothelial cell of umbilical vein CL:0002618 Y Y ECO:0000006 Pubmed:11483590 PENTACON From review: Pubmed:21508345 AAP, DGA 4/21/2014 3 3300009311 Jenn/Faith P23219 5742 PTGS1 Homo sapiens 9606 Comment/tissue specificity Cox-1 in platelets produces TxA2 which promotes platelet activation and aggregation UKNOWN GO:1901731 blood platelet BTO:0000132 platelet CL:0000233 Y Y ECO:0000033 Pubmed:16395396 PENTACON AAP, DGA 4/21/2014 3 3300009312 Jenn/Faith P23219 5742 PTGS1 Homo sapiens 9606 Comment/tissue specificity Cox-1 in platelets produces TxA2 which promotes platelet activation and aggregation UKNOWN GO:1901731 vasculature UBERON:0002049 platelet CL:0000233 Y Y ECO:0000033 Pubmed:16395396 PENTACON AAP, DGA 4/21/2014 3 3300009313 Jenn/Faith P23219 5742 PTGS1 Homo sapiens 9606 Comment/tissue specificity Cox-1 in platelets produces TxA2 which promotes platelet activation and aggregation positive regulation of platelet activation GO:0010572 blood platelet BTO:0000132 platelet CL:0000233 Y Y ECO:0000033 Pubmed:16395396 PENTACON AAP, DGA 4/21/2014 3 3300009314 Jenn/Faith P23219 5742 PTGS1 Homo sapiens 9606 Comment/tissue specificity Cox-1 in platelets produces TxA2 which promotes platelet activation and aggregation positive regulation of platelet activation GO:0010572 vasculature UBERON:0002049 platelet CL:0000233 Y Y ECO:0000033 Pubmed:16395396 PENTACON AAP, DGA 4/21/2014 3 3300009315 Jenn/Faith P23219 5742 PTGS1 Homo sapiens 9606 Comment/tissue specificity Cox-1 in the endothelium and smooth muscles cells produces PGI2 which decreases oxidant stress and activates protein C, inhibiting the coagulation cascade negative regulation of blood coagulation GO:0030195 vascular endothelial cell BTO:0001854 blood vessel endothelial cell CL:0000071 Y Y ECO:0000033 Pubmed:16395396 PENTACON AAP, DGA 4/21/2014 3 3300009316 Jenn/Faith P23219 5742 PTGS1 Homo sapiens 9606 Comment/tissue specificity Cox-1 in the endothelium and smooth muscles cells produces PGI2 which decreases oxidant stress and activates protein C, inhibiting the coagulation cascade negative regulation of blood coagulation GO:0030195 blood vessel endothelium UBERON:0004638 blood vessel endothelial cell CL:0000071 Y Y ECO:0000033 Pubmed:16395396 PENTACON AAP, DGA 4/21/2014 3 3300009317 Jenn/Faith P23219 5742 PTGS1 Homo sapiens 9606 Comment/tissue specificity Cox-1 in the endothelium and smooth muscles cells produces PGI2 which decreases oxidant stress and activates protein C, inhibiting the coagulation cascade negative regulation of blood coagulation GO:0030195 vascular smooth muscle cell BTO:0004578 vascular associated smooth muscle cell CL:0000359 Y Y ECO:0000033 Pubmed:16395396 PENTACON AAP, DGA 4/21/2014 3 3300009318 Jenn/Faith P23219 5742 PTGS1 Homo sapiens 9606 Comment/tissue specificity Cox-1 in the endothelium and smooth muscles cells produces PGI2 which decreases oxidant stress and activates protein C, inhibiting the coagulation cascade negative regulation of blood coagulation GO:0030195 blood vessel smooth muscle UBERON:0004237 vascular associated smooth muscle cell CL:0000359 Y Y ECO:0000033 Pubmed:16395396 PENTACON AAP, DGA 4/21/2014 3 3300009319 Jenn/Faith P23219 5742 PTGS1 Homo sapiens 9606 Comment/tissue specificity Cox-1 in the endothelium and smooth muscles cells produces PGI2 which decreases vascular tone and inhibits platelet activation and aggregation negative regulation of vasoconstriction GO:0045906 vascular endothelial cell BTO:0001854 blood vessel endothelial cell CL:0000071 Y Y ECO:0000033 Pubmed:16395396 PENTACON AAP, DGA 4/21/2014 3 3300009320 Jenn/Faith P23219 5742 PTGS1 Homo sapiens 9606 Comment/tissue specificity Cox-1 in the endothelium and smooth muscles cells produces PGI2 which decreases vascular tone and inhibits platelet activation and aggregation negative regulation of vasoconstriction GO:0045906 blood vessel endothelium UBERON:0004638 blood vessel endothelial cell CL:0000071 Y Y ECO:0000033 Pubmed:16395396 PENTACON AAP, DGA 4/21/2014 3 3300009321 Jenn/Faith P23219 5742 PTGS1 Homo sapiens 9606 Comment/tissue specificity Cox-1 in the endothelium and smooth muscles cells produces PGI2 which decreases vascular tone and inhibits platelet activation and aggregation negative regulation of platelet activation GO:0010544 vascular endothelial cell BTO:0001854 blood vessel endothelial cell CL:0000071 Y Y ECO:0000033 Pubmed:16395396 PENTACON AAP, DGA 4/21/2014 3 3300009322 Jenn/Faith P23219 5742 PTGS1 Homo sapiens 9606 Comment/tissue specificity Cox-1 in the endothelium and smooth muscles cells produces PGI2 which decreases vascular tone and inhibits platelet activation and aggregation negative regulation of platelet activation GO:0010544 blood vessel endothelium UBERON:0004638 blood vessel endothelial cell CL:0000071 Y Y ECO:0000033 Pubmed:16395396 PENTACON AAP, DGA 4/21/2014 3 3300009323 Jenn/Faith P23219 5742 PTGS1 Homo sapiens 9606 Comment/tissue specificity Cox-1 in the endothelium and smooth muscles cells produces PGI2 which decreases vascular tone and inhibits platelet activation and aggregation negative regulation of platelet aggregation GO:0090331 vascular endothelial cell BTO:0001854 blood vessel endothelial cell CL:0000071 Y Y ECO:0000033 Pubmed:16395396 PENTACON AAP, DGA 4/21/2014 3 3300009324 Jenn/Faith P23219 5742 PTGS1 Homo sapiens 9606 Comment/tissue specificity Cox-1 in the endothelium and smooth muscles cells produces PGI2 which decreases vascular tone and inhibits platelet activation and aggregation negative regulation of platelet aggregation GO:0090331 blood vessel endothelium UBERON:0004638 blood vessel endothelial cell CL:0000071 Y Y ECO:0000033 Pubmed:16395396 PENTACON AAP, DGA 4/21/2014 3 3300009325 Jenn/Faith P23219 5742 PTGS1 Homo sapiens 9606 Comment/tissue specificity Cox-1 in the endothelium and smooth muscles cells produces PGI2 which decreases vascular tone and inhibits platelet activation and aggregation negative regulation of vasoconstriction GO:0045906 vascular smooth muscle cell BTO:0004578 vascular associated smooth muscle cell CL:0000359 Y Y ECO:0000033 Pubmed:16395396 PENTACON AAP, DGA 4/21/2014 3 3300009326 Jenn/Faith P23219 5742 PTGS1 Homo sapiens 9606 Comment/tissue specificity Cox-1 in the endothelium and smooth muscles cells produces PGI2 which decreases vascular tone and inhibits platelet activation and aggregation negative regulation of vasoconstriction GO:0045906 blood vessel smooth muscle UBERON:0004237 vascular associated smooth muscle cell CL:0000359 Y Y ECO:0000033 Pubmed:16395396 PENTACON AAP, DGA 4/21/2014 3 3300009327 Jenn/Faith P23219 5742 PTGS1 Homo sapiens 9606 Comment/tissue specificity Cox-1 in the endothelium and smooth muscles cells produces PGI2 which decreases vascular tone and inhibits platelet activation and aggregation negative regulation of platelet activation GO:0010544 vascular smooth muscle cell BTO:0004578 vascular associated smooth muscle cell CL:0000359 Y Y ECO:0000033 Pubmed:16395396 PENTACON AAP, DGA 4/21/2014 3 3300009328 Jenn/Faith P23219 5742 PTGS1 Homo sapiens 9606 Comment/tissue specificity Cox-1 in the endothelium and smooth muscles cells produces PGI2 which decreases vascular tone and inhibits platelet activation and aggregation negative regulation of platelet activation GO:0010544 blood vessel smooth muscle UBERON:0004237 vascular associated smooth muscle cell CL:0000359 Y Y ECO:0000033 Pubmed:16395396 PENTACON AAP, DGA 4/21/2014 3 3300009329 Jenn/Faith P23219 5742 PTGS1 Homo sapiens 9606 Comment/tissue specificity Cox-1 in the endothelium and smooth muscles cells produces PGI2 which decreases vascular tone and inhibits platelet activation and aggregation negative regulation of platelet aggregation GO:0090331 vascular smooth muscle cell BTO:0004578 vascular associated smooth muscle cell CL:0000359 Y Y ECO:0000033 Pubmed:16395396 PENTACON AAP, DGA 4/21/2014 3 3300009330 Jenn/Faith P23219 5742 PTGS1 Homo sapiens 9606 Comment/tissue specificity Cox-1 in the endothelium and smooth muscles cells produces PGI2 which decreases vascular tone and inhibits platelet activation and aggregation negative regulation of platelet aggregation GO:0090331 blood vessel smooth muscle UBERON:0004237 vascular associated smooth muscle cell CL:0000359 Y Y ECO:0000033 Pubmed:16395396 PENTACON AAP, DGA 4/21/2014 3 3300009331 Jenn/Faith P23219 5742 PTGS1 Homo sapiens 9606 Comment/tissue specificity COX-1 mRNA was expressed in both normal and atherosclerotic sections but appeared to be induced in atherosclerotic tissue artery wall BTO:0002009 Y Y ECO:0000006 Pubmed:10952950 PENTACON From review: Pubmed:16395396 AAP, DGA 4/21/2014 3 3300009332 Jenn/Faith P23219 5742 PTGS1 Homo sapiens 9606 Comment/tissue specificity COX-1 mRNA was expressed in both normal and atherosclerotic sections but appeared to be induced in atherosclerotic tissue artery wall UBERON:0000415 Y Y ECO:0000006 Pubmed:10952950 PENTACON From review: Pubmed:16395396 AAP, DGA 4/21/2014 3 3300009333 Jenn/Faith P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity Cox-2 in induced by shear stress in cultured HUVECs while Cox-1 levels remain unchanged HUVEC cell BTO:0001949 endothelial cell of umbilical vein CL:0002618 Y Y ECO:0000006 Pubmed:8816815 PENTACON From review: PubMed:16395396; inducible by shear stress AAP, DGA 4/21/2014 3 3300009334 Jenn/Faith P23219 5742 PTGS1 Homo sapiens 9606 Comment/tissue specificity Cox-2 in induced by shear stress in cultured HUVECs while Cox-1 levels remain unchanged HUVEC cell BTO:0001949 endothelial cell of umbilical vein CL:0002618 Y Y ECO:0000006 Pubmed:8816815 PENTACON From review: PubMed:16395396 AAP, DGA 4/21/2014 3 3300009335 Jenn/Faith P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity Cox-2 in the endothelium and smooth muscles cells produces PGI2 which decreases oxidant stress and activates protein C, inhibiting the coagulation cascade negative regulation of blood coagulation GO:0030195 vascular endothelial cell BTO:0001854 blood vessel endothelial cell CL:0000071 Y Y ECO:0000033 Pubmed:16395396 PENTACON AAP, DGA 4/21/2014 3 3300009336 Jenn/Faith P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity Cox-2 in the endothelium and smooth muscles cells produces PGI2 which decreases oxidant stress and activates protein C, inhibiting the coagulation cascade negative regulation of blood coagulation GO:0030195 blood vessel endothelium UBERON:0004638 blood vessel endothelial cell CL:0000071 Y Y ECO:0000033 Pubmed:16395396 PENTACON AAP, DGA 4/21/2014 3 3300009337 Jenn/Faith P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity Cox-2 in the endothelium and smooth muscles cells produces PGI2 which decreases oxidant stress and activates protein C, inhibiting the coagulation cascade negative regulation of blood coagulation GO:0030195 vascular smooth muscle cell BTO:0004578 vascular associated smooth muscle cell CL:0000359 Y Y ECO:0000033 Pubmed:16395396 PENTACON AAP, DGA 4/21/2014 3 3300009338 Jenn/Faith P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity Cox-2 in the endothelium and smooth muscles cells produces PGI2 which decreases oxidant stress and activates protein C, inhibiting the coagulation cascade negative regulation of blood coagulation GO:0030195 blood vessel smooth muscle UBERON:0004237 vascular associated smooth muscle cell CL:0000359 Y Y ECO:0000033 Pubmed:16395396 PENTACON AAP, DGA 4/21/2014 3 3300009339 Jenn/Faith P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity Cox-2 in the endothelium and smooth muscles cells produces PGI2 which decreases vascular tone and inhibits platelet activation and aggregation negative regulation of vasoconstriction GO:0045906 vascular endothelial cell BTO:0001854 blood vessel endothelial cell CL:0000071 Y Y ECO:0000033 Pubmed:16395396 PENTACON AAP, DGA 4/21/2014 3 3300009340 Jenn/Faith P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity Cox-2 in the endothelium and smooth muscles cells produces PGI2 which decreases vascular tone and inhibits platelet activation and aggregation negative regulation of vasoconstriction GO:0045906 blood vessel endothelium UBERON:0004638 blood vessel endothelial cell CL:0000071 Y Y ECO:0000033 Pubmed:16395396 PENTACON AAP, DGA 4/21/2014 3 3300009341 Jenn/Faith P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity Cox-2 in the endothelium and smooth muscles cells produces PGI2 which decreases vascular tone and inhibits platelet activation and aggregation negative regulation of platelet activation GO:0010544 vascular endothelial cell BTO:0001854 blood vessel endothelial cell CL:0000071 Y Y ECO:0000033 Pubmed:16395396 PENTACON AAP, DGA 4/21/2014 3 3300009342 Jenn/Faith P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity Cox-2 in the endothelium and smooth muscles cells produces PGI2 which decreases vascular tone and inhibits platelet activation and aggregation negative regulation of platelet activation GO:0010544 blood vessel endothelium UBERON:0004638 blood vessel endothelial cell CL:0000071 Y Y ECO:0000033 Pubmed:16395396 PENTACON AAP, DGA 4/21/2014 3 3300009343 Jenn/Faith P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity Cox-2 in the endothelium and smooth muscles cells produces PGI2 which decreases vascular tone and inhibits platelet activation and aggregation negative regulation of platelet aggregation GO:0090331 vascular endothelial cell BTO:0001854 blood vessel endothelial cell CL:0000071 Y Y ECO:0000033 Pubmed:16395396 PENTACON AAP, DGA 4/21/2014 3 3300009344 Jenn/Faith P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity Cox-2 in the endothelium and smooth muscles cells produces PGI2 which decreases vascular tone and inhibits platelet activation and aggregation negative regulation of platelet aggregation GO:0090331 blood vessel endothelium UBERON:0004638 blood vessel endothelial cell CL:0000071 Y Y ECO:0000033 Pubmed:16395396 PENTACON AAP, DGA 4/21/2014 3 3300009345 Jenn/Faith P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity Cox-2 in the endothelium and smooth muscles cells produces PGI2 which decreases vascular tone and inhibits platelet activation and aggregation negative regulation of vasoconstriction GO:0045906 vascular smooth muscle cell BTO:0004578 vascular associated smooth muscle cell CL:0000359 Y Y ECO:0000033 Pubmed:16395396 PENTACON AAP, DGA 4/21/2014 3 3300009346 Jenn/Faith P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity Cox-2 in the endothelium and smooth muscles cells produces PGI2 which decreases vascular tone and inhibits platelet activation and aggregation negative regulation of vasoconstriction GO:0045906 blood vessel smooth muscle UBERON:0004237 vascular associated smooth muscle cell CL:0000359 Y Y ECO:0000033 Pubmed:16395396 PENTACON AAP, DGA 4/21/2014 3 3300009347 Jenn/Faith P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity Cox-2 in the endothelium and smooth muscles cells produces PGI2 which decreases vascular tone and inhibits platelet activation and aggregation negative regulation of platelet activation GO:0010544 vascular smooth muscle cell BTO:0004578 vascular associated smooth muscle cell CL:0000359 Y Y ECO:0000033 Pubmed:16395396 PENTACON AAP, DGA 4/21/2014 3 3300009348 Jenn/Faith P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity Cox-2 in the endothelium and smooth muscles cells produces PGI2 which decreases vascular tone and inhibits platelet activation and aggregation negative regulation of platelet activation GO:0010544 blood vessel smooth muscle UBERON:0004237 vascular associated smooth muscle cell CL:0000359 Y Y ECO:0000033 Pubmed:16395396 PENTACON AAP, DGA 4/21/2014 3 3300009349 Jenn/Faith P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity Cox-2 in the endothelium and smooth muscles cells produces PGI2 which decreases vascular tone and inhibits platelet activation and aggregation negative regulation of platelet aggregation GO:0090331 vascular smooth muscle cell BTO:0004578 vascular associated smooth muscle cell CL:0000359 Y Y ECO:0000033 Pubmed:16395396 PENTACON AAP, DGA 4/21/2014 3 3300009350 Jenn/Faith P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity Cox-2 in the endothelium and smooth muscles cells produces PGI2 which decreases vascular tone and inhibits platelet activation and aggregation negative regulation of platelet aggregation GO:0090331 blood vessel smooth muscle UBERON:0004237 vascular associated smooth muscle cell CL:0000359 Y Y ECO:0000033 Pubmed:16395396 PENTACON AAP, DGA 4/21/2014 3 3300009351 Jenn P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity COX-2 mRNA abundance was significantly higher in cortex and medulla from kidneys with arterial stenosis compared with control kidneys renal cortex BTO:0001166 Stricture of artery SNOMEDCT:68109007 Y Y ECO:0000006 Pubmed:15100359 PENTACON From review: Pubmed:17003913 AAP, DGA 4/21/2014 3 3300009352 Jenn P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity COX-2 mRNA abundance was significantly higher in cortex and medulla from kidneys with arterial stenosis compared with control kidneys cortex of kidney UBERON:0001225 Stricture of artery SNOMEDCT:68109007 Y Y ECO:0000006 Pubmed:15100359 PENTACON From review: Pubmed:17003913 AAP, DGA 4/21/2014 3 3300009353 Jenn/Faith P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity COX-2 mRNA abundance was significantly higher in cortex and medulla from kidneys with arterial stenosis compared with control kidneys renal cortex BTO:0001166 Y Y ECO:0000006 Pubmed:15100359 PENTACON From review: Pubmed:17003913 AAP, DGA 4/21/2014 3 3300009354 Jenn/Faith P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity COX-2 mRNA abundance was significantly higher in cortex and medulla from kidneys with arterial stenosis compared with control kidneys cortex of kidney UBERON:0001225 Y Y ECO:0000006 Pubmed:15100359 PENTACON From review: Pubmed:17003913 AAP, DGA 4/21/2014 3 3300009355 Faith P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity COX-2 protein expression is induced in human mesangial cells by increasing percentage of collagen type I on collagen coated plates. mesangial cell BTO:0000853 mesangial cell CL:0000650 Y Y ECO:0000006 PubMed:21209362 PENTACON inducible:extracellular matrix composition/collagen type I AAP, DGA 4/21/2014 3 3300009356 Jenn P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity COX-2 was readily detected ex vivo in neutrophils at both 90 and 180 minutes after injection neutrophil BTO:0000130 neutrophil CL:0000775 Y Y ECO:0000006 Pubmed:10811855 PENTACON From review: Pubmed:19095631; From review: Pubmed:21508345; inducible by LPS AAP, DGA 4/21/2014 3 3300009357 Jenn P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity COX-2–dependent PGI2 was shown to afford protection against oxidant injury to cardiomyocytes in vivo. COX-2–dependent PGI2 formation appears to contribute to the atheroprotection afforded by estrogen and mediated via its ER-α receptor in vivo. COX-2 inhibition elevates blood pressure and augments the pressor response to dietary sodium. inhibition of COX-2 modulates vascular remodeling induced by hemodynamic stress. suppression of COX-2–dependent PGI2 formation, can both augment the response to thrombotic and hypertensive stimuli and initiate and accelerate atherogenesis. positive regulation of prostaglandin secretion GO:0032308 parenchyma BTO:0001539 cardiac muscle cell CL:0000746 Y Y ECO:0000033 Pubmed:16395396 PENTACON COX2 produces PGI2 which has a cardioprotective effect AAP, DGA 4/21/2014 3 3300009358 Jenn P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity COX-2–dependent PGI2 was shown to afford protection against oxidant injury to cardiomyocytes in vivo. COX-2–dependent PGI2 formation appears to contribute to the atheroprotection afforded by estrogen and mediated via its ER-α receptor in vivo. COX-2 inhibition elevates blood pressure and augments the pressor response to dietary sodium. inhibition of COX-2 modulates vascular remodeling induced by hemodynamic stress. suppression of COX-2–dependent PGI2 formation, can both augment the response to thrombotic and hypertensive stimuli and initiate and accelerate atherogenesis. positive regulation of prostaglandin secretion GO:0032308 cardiac muscle tissue UBERON:0001133 cardiac muscle cell CL:0000746 Y Y ECO:0000033 Pubmed:16395396 PENTACON COX2 produces PGI2 which has a cardioprotective effect AAP, DGA 4/21/2014 3 3300009359 Jenn P23219 5742 PTGS1 Homo sapiens 9606 Comment/tissue specificity COX1 in the renal cortex produces TxA2 and PGF2alpha leading to increased vascular tone and blood pressure positive regulation of blood pressure GO:0045777 renal cortex BTO:0001166 Y Y ECO:0000033 Pubmed:16395396 PENTACON AAP, DGA 4/21/2014 3 3300009360 Jenn P23219 5742 PTGS1 Homo sapiens 9606 Comment/tissue specificity COX1 in the renal cortex produces TxA2 and PGF2alpha leading to increased vascular tone and blood pressure positive regulation of blood pressure GO:0045777 cortex of kidney UBERON:0001225 Y Y ECO:0000033 Pubmed:16395396 PENTACON AAP, DGA 4/21/2014 3 3300009361 Jenn P23219 5742 PTGS1 Homo sapiens 9606 Comment/tissue specificity COX1 in the renal cortex produces TxA2 and PGF2alpha leading to increased vascular tone and blood pressure vasoconstriction GO:0042310 renal cortex BTO:0001166 Y Y ECO:0000033 Pubmed:16395396 PENTACON AAP, DGA 4/21/2014 3 3300009362 Jenn P23219 5742 PTGS1 Homo sapiens 9606 Comment/tissue specificity COX1 in the renal cortex produces TxA2 and PGF2alpha leading to increased vascular tone and blood pressure vasoconstriction GO:0042310 cortex of kidney UBERON:0001225 Y Y ECO:0000033 Pubmed:16395396 PENTACON AAP, DGA 4/21/2014 3 3300009363 Jenn P23219 5742 PTGS1 Homo sapiens 9606 Comment/tissue specificity COX1 is present in all paired mucosa and carcinoma samples colorectal mucosa BTO:0002435 Y Y ECO:0000006 Pubmed:7926468 PENTACON From review: PMID: 20168319 AAP, DGA 4/21/2014 3 3300009364 Jenn P23219 5742 PTGS1 Homo sapiens 9606 Comment/tissue specificity COX1 is present in all paired mucosa and carcinoma samples colorectal mucosa UBERON:0013067 Y Y ECO:0000006 Pubmed:7926468 PENTACON From review: PMID: 20168319 AAP, DGA 4/21/2014 3 3300009365 Jenn P23219 5742 PTGS1 Homo sapiens 9606 Comment/tissue specificity COX1 is present in all paired mucosa and carcinoma samples colorectal mucosa BTO:0002435 Y Y ECO:0000033 PMID: 20168319 PENTACON AAP, DGA 4/21/2014 3 3300009366 Jenn P23219 5742 PTGS1 Homo sapiens 9606 Comment/tissue specificity COX1 is present in all paired mucosa and carcinoma samples colorectal mucosa UBERON:0013067 Y Y ECO:0000033 PMID: 20168319 PENTACON AAP, DGA 4/21/2014 3 3300009367 Jenn P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity COX2 expression in HUVECs is induced by exposure to platelet microparticles HUVEC cell BTO:0001949 Y Y ECO:0000006 Pubmed:9151784 PENTACON From review: Pubmed:18834304 AAP, DGA 4/21/2014 3 3300009368 Jenn P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity COX2 in the renal cortex produces PGI2 resulting in increased renin production and ultimately increased blood pressure and sodium retention positive regulation of blood pressure GO:0045777 renal cortex BTO:0001166 Y Y ECO:0000033 Pubmed:16395396 PENTACON AAP, DGA 4/21/2014 3 3300009369 Jenn P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity COX2 in the renal cortex produces PGI2 resulting in increased renin production and ultimately increased blood pressure and sodium retention positive regulation of blood pressure GO:0045777 cortex of kidney UBERON:0001225 Y Y ECO:0000033 Pubmed:16395396 PENTACON AAP, DGA 4/21/2014 3 3300009370 Jenn P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity COX2 in the renal cortex produces PGI2 resulting in increased renin production and ultimately increased blood pressure and sodium retention renin activity GO:0004195 renal cortex BTO:0001166 Y Y ECO:0000033 Pubmed:16395396 PENTACON AAP, DGA 4/21/2014 3 3300009371 Jenn P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity COX2 in the renal cortex produces PGI2 resulting in increased renin production and ultimately increased blood pressure and sodium retention renin activity GO:0004195 cortex of kidney UBERON:0001225 Y Y ECO:0000033 Pubmed:16395396 PENTACON AAP, DGA 4/21/2014 3 3300009372 Jenn P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity COX2 in the renal cortex produces PGI2 resulting in increased renin production and ultimately increased blood pressure and sodium retention renal system process involved in regulation of systemic arterial blood pressure GO:0003071 renal cortex BTO:0001166 Y Y ECO:0000033 Pubmed:16395396 PENTACON AAP, DGA 4/21/2014 3 3300009373 Jenn P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity COX2 in the renal cortex produces PGI2 resulting in increased renin production and ultimately increased blood pressure and sodium retention renal system process involved in regulation of systemic arterial blood pressure GO:0003071 cortex of kidney UBERON:0001225 Y Y ECO:0000033 Pubmed:16395396 PENTACON AAP, DGA 4/21/2014 3 3300009374 Jenn P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity COX2 in the renal cortex produces PGI2 resulting in increased renin production and ultimately increased blood pressure and sodium retention negative regulation of renal sodium excretion GO:0035814 renal cortex BTO:0001166 Y Y ECO:0000033 Pubmed:16395396 PENTACON AAP, DGA 4/21/2014 3 3300009375 Jenn P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity COX2 in the renal cortex produces PGI2 resulting in increased renin production and ultimately increased blood pressure and sodium retention negative regulation of renal sodium excretion GO:0035814 cortex of kidney UBERON:0001225 Y Y ECO:0000033 Pubmed:16395396 PENTACON AAP, DGA 4/21/2014 3 3300009376 Jenn P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity COX2 in the renal medulla produces PGE2 and PGI2 resulting in decreased vascular tone, increased MBF, natriuresis, diuresis and ultimately decreased blood pressure and sodium retention vasodilation GO:0042311 renal medulla BTO:0001167 Y Y ECO:0000033 Pubmed:16395396 PENTACON AAP, DGA 4/21/2014 3 3300009377 Jenn P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity COX2 in the renal medulla produces PGE2 and PGI2 resulting in decreased vascular tone, increased MBF, natriuresis, diuresis and ultimately decreased blood pressure and sodium retention vasodilation GO:0042311 renal medulla UBERON:0000362 Y Y ECO:0000033 Pubmed:16395396 PENTACON AAP, DGA 4/21/2014 3 3300009378 Jenn P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity COX2 in the renal medulla produces PGE2 and PGI2 resulting in decreased vascular tone, increased MBF, natriuresis, diuresis and ultimately decreased blood pressure and sodium retention positive regulation of natriuresis GO:0003079 renal medulla BTO:0001167 Y Y ECO:0000033 Pubmed:16395396 PENTACON AAP, DGA 4/21/2014 3 3300009379 Jenn P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity COX2 in the renal medulla produces PGE2 and PGI2 resulting in decreased vascular tone, increased MBF, natriuresis, diuresis and ultimately decreased blood pressure and sodium retention positive regulation of natriuresis GO:0003079 renal medulla UBERON:0000362 Y Y ECO:0000033 Pubmed:16395396 PENTACON AAP, DGA 4/21/2014 3 3300009380 Jenn P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity COX2 in the renal medulla produces PGE2 and PGI2 resulting in decreased vascular tone, increased MBF, natriuresis, diuresis and ultimately decreased blood pressure and sodium retention positive regulation of diuresis GO:0003103 renal medulla BTO:0001167 Y Y ECO:0000033 Pubmed:16395396 PENTACON AAP, DGA 4/21/2014 3 3300009381 Jenn P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity COX2 in the renal medulla produces PGE2 and PGI2 resulting in decreased vascular tone, increased MBF, natriuresis, diuresis and ultimately decreased blood pressure and sodium retention positive regulation of diuresis GO:0003103 renal medulla UBERON:0000362 Y Y ECO:0000033 Pubmed:16395396 PENTACON AAP, DGA 4/21/2014 3 3300009382 Jenn P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity COX2 in the renal medulla produces PGE2 and PGI2 resulting in decreased vascular tone, increased MBF, natriuresis, diuresis and ultimately decreased blood pressure and sodium retention negative regulation of blood pressure GO:0045776 renal medulla BTO:0001167 Y Y ECO:0000033 Pubmed:16395396 PENTACON AAP, DGA 4/21/2014 3 3300009383 Jenn P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity COX2 in the renal medulla produces PGE2 and PGI2 resulting in decreased vascular tone, increased MBF, natriuresis, diuresis and ultimately decreased blood pressure and sodium retention negative regulation of blood pressure GO:0045776 renal medulla UBERON:0000362 Y Y ECO:0000033 Pubmed:16395396 PENTACON AAP, DGA 4/21/2014 3 3300009384 Jenn P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity COX2 in the renal medulla produces PGE2 and PGI2 resulting in decreased vascular tone, increased MBF, natriuresis, diuresis and ultimately decreased blood pressure and sodium retention positive regulation of renal sodium excretion GO:0035815 renal medulla BTO:0001167 Y Y ECO:0000033 Pubmed:16395396 PENTACON AAP, DGA 4/21/2014 3 3300009385 Jenn P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity COX2 in the renal medulla produces PGE2 and PGI2 resulting in decreased vascular tone, increased MBF, natriuresis, diuresis and ultimately decreased blood pressure and sodium retention positive regulation of renal sodium excretion GO:0035815 renal medulla UBERON:0000362 Y Y ECO:0000033 Pubmed:16395396 PENTACON AAP, DGA 4/21/2014 3 3300009386 Faith P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity Expression of COX-2 immunoreactive protein in adult kidney could be localized to endothelial and smooth muscle cells of arteries (interlobar artery), arterioles and veins and intraglomerularly in podocytes. These data were confirmed by in situ mRNA analysis using digoxigenin-labeled riboprobes. arterial endothelial cell BTO:0004758 interlobulary artery endothelial cell CL:1001216 Y Y ECO:0000006 PubMed:9140046 PENTACON From primary source: PubMed:12093889; endothelial cell of artery in kidney AAP, DGA 4/21/2014 3 3300009406 Faith P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity Expression of COX-2 immunoreactive protein in adult kidney could be localized to endothelial and smooth muscle cells of arteries (interlobar artery), arterioles and veins and intraglomerularly in podocytes. These data were confirmed by in situ mRNA analysis using digoxigenin-labeled riboprobes. podocyte BTO:0002295 glomerular visceral epithelial cell CL:0000653 Y Y ECO:0000006 PubMed:9140046 PENTACON From primary source: PubMed:12093889 AAP, DGA 4/21/2014 3 3300009407 Faith P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity Expression of COX-2 immunoreactive protein in adult kidney could be localized to endothelial and smooth muscle cells of arteries (interlobar artery), arterioles and veins and intraglomerularly in podocytes. These data were confirmed by in situ mRNA analysis using digoxigenin-labeled riboprobes. vascular endothelial cell BTO:0001854 endothelial cell of arteriole CL:1000412 Y Y ECO:0000006 PubMed:9140046 PENTACON From primary source: PubMed:12093889;endothelial cell of arteriole in kidney AAP, DGA 4/21/2014 3 3300009408 Faith P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity Expression of COX-2 immunoreactive protein in adult kidney could be localized to endothelial and smooth muscle cells of arteries (interlobar artery), arterioles and veins and intraglomerularly in podocytes. These data were confirmed by in situ mRNA analysis using digoxigenin-labeled riboprobes. vascular smooth muscle cell BTO:0004578 kidney artery smooth muscle cell CL:1001064 Y Y ECO:0000006 PubMed:9140046 PENTACON From primary source: PubMed:12093889 AAP, DGA 4/21/2014 3 3300009409 Faith P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity Expression of COX-2 immunoreactive protein in adult kidney could be localized to endothelial and smooth muscle cells of arteries (interlobar artery), arterioles and veins and intraglomerularly in podocytes. These data were confirmed by in situ mRNA analysis using digoxigenin-labeled riboprobes. vascular smooth muscle cell BTO:0004578 kidney venous system smooth muscle cell CL:1001068 Y Y ECO:0000006 PubMed:9140046 PENTACON From primary source: PubMed:12093889 AAP, DGA 4/21/2014 3 3300009410 Faith P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity Expression of COX-2 immunoreactive protein in adult kidney could be localized to endothelial and smooth muscle cells of arteries (interlobar artery), arterioles and veins and intraglomerularly in podocytes. These data were confirmed by in situ mRNA analysis using digoxigenin-labeled riboprobes. venous endothelial cell BTO:0004759 vein endothelial cell CL:0002543 Y Y ECO:0000006 PubMed:9140046 PENTACON From primary source: PubMed:12093889 AAP, DGA 4/21/2014 3 3300009411 Jenn P23219 5742 PTGS1 Homo sapiens 9606 Comment/tissue specificity HASMCs expressed COX-1 mRNA and the amount was not affected by treatment with 100 ng/ml of LPS alone or by prior treatment for 24 h with 10 µM Sal B aortic smooth muscle cell BTO:0004577 aortic smooth muscle cell CL:0002539 Y Y ECO:0000006 Pubmed:16440326 PENTACON From review: Pubmed:17003913 AAP, DGA 4/21/2014 3 3300009412 Faith P23219 5742 PTGS1 Homo sapiens 9606 Comment/tissue specificity Ibuprofen, but not celecoxib, significantly inhibited TxA2-dependent platelet aggregation UKNOWN GO:1901731 blood platelet BTO:0000132 platelet CL:0000233 Y Y ECO:0000006 Pubmed:9874808 PENTACON From review: Pubmed:20059330 AAP, DGA 4/21/2014 3 3300009413 Jenn P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity IL-1 induced Cox2 expression, which was elevated modestly in the sPLA2-IID transfected cells compared to control cells, was further increased in cells co-expressinf sPLA2-IID and glypican HEK-293 cell BTO:0000007 Y Y ECO:0000006 Pubmed:11106649 PENTACON From review: Pubmed:22155285; induced by IL-1 AAP, DGA 4/21/2014 3 3300009414 Jenn/Faith P23219 5742 PTGS1 Homo sapiens 9606 Comment/tissue specificity Immunohistochemistry of bone marrow sections showed that megakaryocytes express COX-1 (Fig. ​(Fig.1),1), which is consistent with the current notion that platelets express only COX-1. Quite unexpectedly, megakaryocytes stained positively also for COX-2 (Fig. ​(Fig.1),1), indicating that both COX isoforms are present in human megakaryocytes. megakaryocyte BTO:0000843 megakaryocyte CL:0000556 Y Y ECO:0000006 Pubmed:12032335 PENTACON From review: Pubmed:19095631 AAP, DGA 4/21/2014 3 3300009415 Jenn/Faith P23219 5742 PTGS1 Homo sapiens 9606 Comment/tissue specificity Immunohistochemistry of bone marrow sections showed that megakaryocytes express COX-1 (Fig. ​(Fig.1),1), which is consistent with the current notion that platelets express only COX-1. Quite unexpectedly, megakaryocytes stained positively also for COX-2 (Fig. ​(Fig.1),1), indicating that both COX isoforms are present in human megakaryocytes. bone marrow UBERON:0002371 megakaryocyte CL:0000556 Y Y ECO:0000006 Pubmed:12032335 PENTACON From review: Pubmed:19095631 AAP, DGA 4/21/2014 3 3300009416 Jenn/Faith P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity Immunohistochemistry of bone marrow sections showed that megakaryocytes express COX-1 (Fig. ​(Fig.1),1), which is consistent with the current notion that platelets express only COX-1. Quite unexpectedly, megakaryocytes stained positively also for COX-2 (Fig. ​(Fig.1),1), indicating that both COX isoforms are present in human megakaryocytes. megakaryocyte BTO:0000843 megakaryocyte CL:0000556 Y Y ECO:0000006 Pubmed:12032335 PENTACON From review: Pubmed:19095631 AAP, DGA 4/21/2014 3 3300009417 Jenn/Faith P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity Immunohistochemistry of bone marrow sections showed that megakaryocytes express COX-1 (Fig. ​(Fig.1),1), which is consistent with the current notion that platelets express only COX-1. Quite unexpectedly, megakaryocytes stained positively also for COX-2 (Fig. ​(Fig.1),1), indicating that both COX isoforms are present in human megakaryocytes. bone marrow UBERON:0002371 megakaryocyte CL:0000556 Y Y ECO:0000006 Pubmed:12032335 PENTACON From review: Pubmed:19095631 AAP, DGA 4/21/2014 3 3300009418 Faith P23219 5742 PTGS1 Homo sapiens 9606 Comment/tissue specificity Immunohistology of adult kidney showed expression of COX-1 in collecting duct cells (increasing from cortex to renal medulla), cortical and medullary interstitial cells (including tissue macrophages), endothelial cells, and smooth muscle cells of pre- and postglomerular vessels (including the vasa recta). These data were confirmed by in situ mRNA analysis using digoxigenin-labeled riboprobes. cortical collecting duct BTO:0002643 kidney collecting duct cell CL:1001225 Y Y ECO:0000006 PubMed:9140046 PENTACON From primary source: PubMed:12093889 AAP, DGA 4/21/2014 3 3300009419 Faith P23219 5742 PTGS1 Homo sapiens 9606 Comment/tissue specificity Immunohistology of adult kidney showed expression of COX-1 in collecting duct cells (increasing from cortex to renal medulla), cortical and medullary interstitial cells (including tissue macrophages), endothelial cells, and smooth muscle cells of pre- and postglomerular vessels (including the vasa recta). These data were confirmed by in situ mRNA analysis using digoxigenin-labeled riboprobes. cortical collecting duct UBERON:0004203 kidney collecting duct cell CL:1001225 Y Y ECO:0000006 PubMed:9140046 PENTACON From primary source: PubMed:12093889 AAP, DGA 4/21/2014 3 3300009420 Faith P23219 5742 PTGS1 Homo sapiens 9606 Comment/tissue specificity Immunohistology of adult kidney showed expression of COX-1 in collecting duct cells (increasing from cortex to renal medulla), cortical and medullary interstitial cells (including tissue macrophages), endothelial cells, and smooth muscle cells of pre- and postglomerular vessels (including the vasa recta). These data were confirmed by in situ mRNA analysis using digoxigenin-labeled riboprobes. medullary collecting duct cell BTO:0004535 kidney collecting duct cell CL:1001225 Y Y ECO:0000006 PubMed:9140046 PENTACON From primary source: PubMed:12093889 AAP, DGA 4/21/2014 3 3300009421 Faith P23219 5742 PTGS1 Homo sapiens 9606 Comment/tissue specificity Immunohistology of adult kidney showed expression of COX-1 in collecting duct cells (increasing from cortex to renal medulla), cortical and medullary interstitial cells (including tissue macrophages), endothelial cells, and smooth muscle cells of pre- and postglomerular vessels (including the vasa recta). These data were confirmed by in situ mRNA analysis using digoxigenin-labeled riboprobes. renal cortex BTO:0001166 Y Y ECO:0000006 PubMed:9140046 PENTACON From primary source: PubMed:12093889;The more specific ""renal cortex interstitium"" not available in BRENDA. AAP, DGA 4/21/2014 3 3300009422 Faith P23219 5742 PTGS1 Homo sapiens 9606 Comment/tissue specificity Immunohistology of adult kidney showed expression of COX-1 in collecting duct cells (increasing from cortex to renal medulla), cortical and medullary interstitial cells (including tissue macrophages), endothelial cells, and smooth muscle cells of pre- and postglomerular vessels (including the vasa recta). These data were confirmed by in situ mRNA analysis using digoxigenin-labeled riboprobes. renal cortex interstitium UBERON:0005270 Y Y ECO:0000006 PubMed:9140046 PENTACON From primary source: PubMed:12093889;The more specific ""renal cortex interstitium"" not available in BRENDA. AAP, DGA 4/21/2014 3 3300009423 Faith P23219 5742 PTGS1 Homo sapiens 9606 Comment/tissue specificity Immunohistology of adult kidney showed expression of COX-1 in collecting duct cells (increasing from cortex to renal medulla), cortical and medullary interstitial cells (including tissue macrophages), endothelial cells, and smooth muscle cells of pre- and postglomerular vessels (including the vasa recta). These data were confirmed by in situ mRNA analysis using digoxigenin-labeled riboprobes. renal medulla BTO:0001167 Y Y ECO:0000006 PubMed:9140046 PENTACON From primary source: PubMed:12093889;The more specific ""renal medulla interstitium"" not available in BRENDA. AAP, DGA 4/21/2014 3 3300009424 Faith P23219 5742 PTGS1 Homo sapiens 9606 Comment/tissue specificity Immunohistology of adult kidney showed expression of COX-1 in collecting duct cells (increasing from cortex to renal medulla), cortical and medullary interstitial cells (including tissue macrophages), endothelial cells, and smooth muscle cells of pre- and postglomerular vessels (including the vasa recta). These data were confirmed by in situ mRNA analysis using digoxigenin-labeled riboprobes. renal medulla interstitium UBERON:0005211 Y Y ECO:0000006 PubMed:9140046 PENTACON From primary source: PubMed:12093889;The more specific ""renal medulla interstitium"" not available in BRENDA. AAP, DGA 4/21/2014 3 3300009425 Faith P23219 5742 PTGS1 Homo sapiens 9606 Comment/tissue specificity Immunohistology of adult kidney showed expression of COX-1 in collecting duct cells (increasing from cortex to renal medulla), cortical and medullary interstitial cells (including tissue macrophages), endothelial cells, and smooth muscle cells of pre- and postglomerular vessels (including the vasa recta). These data were confirmed by in situ mRNA analysis using digoxigenin-labeled riboprobes. vascular endothelial cell BTO:0001854 kidney afferent arteriole endothelial cell CL:1001096 Y Y ECO:0000006 PubMed:9140046 PENTACON From primary source: PubMed:12093889 AAP, DGA 4/21/2014 3 3300009426 Faith P23219 5742 PTGS1 Homo sapiens 9606 Comment/tissue specificity Immunohistology of adult kidney showed expression of COX-1 in collecting duct cells (increasing from cortex to renal medulla), cortical and medullary interstitial cells (including tissue macrophages), endothelial cells, and smooth muscle cells of pre- and postglomerular vessels (including the vasa recta). These data were confirmed by in situ mRNA analysis using digoxigenin-labeled riboprobes. vascular smooth muscle cell BTO:0004578 kidney artery smooth muscle cell CL:1001064 Y Y ECO:0000006 PubMed:9140046 PENTACON From primary source: PubMed:12093889 AAP, DGA 4/21/2014 3 3300009427 Faith P23219 5742 PTGS1 Homo sapiens 9606 Comment/tissue specificity Immunohistology of adult kidney showed expression of COX-1 in collecting duct cells (increasing from cortex to renal medulla), cortical and medullary interstitial cells (including tissue macrophages), endothelial cells, and smooth muscle cells of pre- and postglomerular vessels (including the vasa recta). These data were confirmed by in situ mRNA analysis using digoxigenin-labeled riboprobes. vascular smooth muscle cell BTO:0004578 kidney venous system smooth muscle cell CL:1001068 Y Y ECO:0000006 PubMed:9140046 PENTACON From primary source: PubMed:12093889 AAP, DGA 4/21/2014 3 3300009428 Faith P23219 5742 PTGS1 Homo sapiens 9606 Comment/tissue specificity Immunohistology of adult kidney showed expression of COX-1 in collecting duct cells (increasing from cortex to renal medulla), cortical and medullary interstitial cells (including tissue macrophages), endothelial cells, and smooth muscle cells of pre- and postglomerular vessels (including the vasa recta). These data were confirmed by in situ mRNA analysis using digoxigenin-labeled riboprobes. vasa recta UBERON:0004726 Y Y ECO:0000006 PubMed:9140046 PENTACON From primary source: PubMed:12093889 AAP, DGA 4/21/2014 3 3300009429 Jenn P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity Immunoprecipitation of COX-2 was not altered in monocytes monocyte BTO:0000876 monocyte CL:0000576 Y Y ECO:0000006 Pubmed:10811855 PENTACON From review: Pubmed:19095631; From review: Pubmed:21508345 AAP, DGA 4/21/2014 3 3300009430 Jenn P23219 5742 PTGS1 Homo sapiens 9606 Comment/tissue specificity In adult kidney, COX-1 immunoreactivity was associated with endothelial cells of arteries, with mesangial cells at the glomerular hilum and with cortical interstitial cells (Figure 2, c, e, and g). COX-1 immunoreactivity was detected in collecting duct principal cells in cortex and medulla collecting duct BTO:0000761 Y Y ECO:0000006 Pubmed:15100359 PENTACON From review: Pubmed:17003913 AAP, DGA 4/21/2014 3 3300009431 Jenn P23219 5742 PTGS1 Homo sapiens 9606 Comment/tissue specificity In adult kidney, COX-1 immunoreactivity was associated with endothelial cells of arteries, with mesangial cells at the glomerular hilum and with cortical interstitial cells (Figure 2, c, e, and g). COX-1 immunoreactivity was detected in collecting duct principal cells in cortex and medulla collecting duct of renal tubule UBERON:0001232 Y Y ECO:0000006 Pubmed:15100359 PENTACON From review: Pubmed:17003913 AAP, DGA 4/21/2014 3 3300009432 Jenn/Faith P23219 5742 PTGS1 Homo sapiens 9606 Comment/tissue specificity In adult kidney, COX-1 immunoreactivity was associated with endothelial cells of arteries, with mesangial cells at the glomerular hilum and with cortical interstitial cells (Figure 2, c, e, and g). COX-1 immunoreactivity was detected in collecting duct principal cells in cortex and medulla mesangial cell BTO:0000853 glomerular mesangial cell CL:1000742 Y Y ECO:0000006 Pubmed:15100359 PENTACON From review: Pubmed:17003913 AAP, DGA 4/21/2014 3 3300009433 Jenn/Faith P23219 5742 PTGS1 Homo sapiens 9606 Comment/tissue specificity In adult kidney, COX-1 immunoreactivity was associated with endothelial cells of arteries, with mesangial cells at the glomerular hilum and with cortical interstitial cells (Figure 2, c, e, and g). COX-1 immunoreactivity was detected in collecting duct principal cells in cortex and medulla hilum of kidney UBERON:0008716 glomerular mesangial cell CL:1000742 Y Y ECO:0000006 Pubmed:15100359 PENTACON From review: Pubmed:17003913 AAP, DGA 4/21/2014 3 3300009434 Jenn P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity In adult kidney, COX-2 immunoreactivity was associated with preglomerular, glomerular, and postglomerular vessels (Figure 2, a, b, d, f, and j, k). Preglomerular vessels of all calibers from arteries to arterioles were labeled in the smooth muscle cell layer (Figure 2, b, d, and k; Figures 4A and 5B). In glomeruli, labeling was observed in parietal epithelial cells (Figure 2b) and in few intraglomerular cells, probably podocytes (Figure 4A) (8). In the postglomerular vasculature, labeling was associated with outer medullary vasa recta, as seen in the compound picture of a longitudinal section and in cross sections of outer medulla renal glomerulus BTO:0000530 Y Y ECO:0000006 Pubmed:15100359 PENTACON From review: Pubmed:17003913 AAP, DGA 4/21/2014 3 3300009435 Jenn P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity In adult kidney, COX-2 immunoreactivity was associated with preglomerular, glomerular, and postglomerular vessels (Figure 2, a, b, d, f, and j, k). Preglomerular vessels of all calibers from arteries to arterioles were labeled in the smooth muscle cell layer (Figure 2, b, d, and k; Figures 4A and 5B). In glomeruli, labeling was observed in parietal epithelial cells (Figure 2b) and in few intraglomerular cells, probably podocytes (Figure 4A) (8). In the postglomerular vasculature, labeling was associated with outer medullary vasa recta, as seen in the compound picture of a longitudinal section and in cross sections of outer medulla renal glomerulus UBERON:0000074 Y Y ECO:0000006 Pubmed:15100359 PENTACON From review: Pubmed:17003913 AAP, DGA 4/21/2014 3 3300009436 Jenn P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity In control kidneys, minimal to mild COX-2 expression was observed in the glomerular podocytes, in small blood vessels (smooth muscle cells and endothelial cells) and in a small number of interstitial cells within the tip of the papilla. No COX-2 protein or mRNA was observed in the macula densa or thick ascending limb of the loop of Henle (TAL). renal artery BTO:0001165 Y Y ECO:0000006 Pubmed:11499548 PENTACON From review: Pubmed:17361113; From review: Pubmed:19095631 AAP, DGA 4/21/2014 3 3300009437 Jenn P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity In control kidneys, minimal to mild COX-2 expression was observed in the glomerular podocytes, in small blood vessels (smooth muscle cells and endothelial cells) and in a small number of interstitial cells within the tip of the papilla. No COX-2 protein or mRNA was observed in the macula densa or thick ascending limb of the loop of Henle (TAL). kidney blood vessel UBERON:0003517 Y Y ECO:0000006 Pubmed:11499548 PENTACON From review: Pubmed:17361113; From review: Pubmed:19095631 AAP, DGA 4/21/2014 3 3300009438 Jenn P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity In control kidneys, minimal to mild COX-2 expression was observed in the glomerular podocytes, in small blood vessels (smooth muscle cells and endothelial cells) and in a small number of interstitial cells within the tip of the papilla. No COX-2 protein or mRNA was observed in the macula densa or thick ascending limb of the loop of Henle (TAL). renal glomerulus BTO:0000530 glomerular visceral epithelial cell CL:0000653 Y Y ECO:0000006 Pubmed:11499548 PENTACON From review: Pubmed:17361113; From review: Pubmed:19095631 AAP, DGA 4/21/2014 3 3300009439 Jenn P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity In control kidneys, minimal to mild COX-2 expression was observed in the glomerular podocytes, in small blood vessels (smooth muscle cells and endothelial cells) and in a small number of interstitial cells within the tip of the papilla. No COX-2 protein or mRNA was observed in the macula densa or thick ascending limb of the loop of Henle (TAL). renal glomerulus UBERON:0000074 glomerular visceral epithelial cell CL:0000653 Y Y ECO:0000006 Pubmed:11499548 PENTACON From review: Pubmed:17361113; From review: Pubmed:19095631 AAP, DGA 4/21/2014 3 3300009440 Jenn P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity In control kidneys, minimal to mild COX-2 expression was observed in the glomerular podocytes, in small blood vessels (smooth muscle cells and endothelial cells) and in a small number of interstitial cells within the tip of the papilla. No COX-2 protein or mRNA was observed in the macula densa or thick ascending limb of the loop of Henle (TAL). renal papilla BTO:0003925 Y Y ECO:0000006 Pubmed:11499548 PENTACON From review: Pubmed:17361113; From review: Pubmed:19095631 AAP, DGA 4/21/2014 3 3300009441 Jenn P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity In control kidneys, minimal to mild COX-2 expression was observed in the glomerular podocytes, in small blood vessels (smooth muscle cells and endothelial cells) and in a small number of interstitial cells within the tip of the papilla. No COX-2 protein or mRNA was observed in the macula densa or thick ascending limb of the loop of Henle (TAL). renal papilla UBERON:0001228 Y Y ECO:0000006 Pubmed:11499548 PENTACON From review: Pubmed:17361113; From review: Pubmed:19095631 AAP, DGA 4/21/2014 3 3300009442 Jenn/Faith P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity In cultured human endothelial cells cyclooxygenase-2 is up-regulated by steady laminar shear stress (LSS) HUVEC cell BTO:0001949 endothelial cell of umbilical vein CL:0002618 Y Y ECO:0000006 PubMed:8816815 PENTACON From review: PubMed:20059330 AAP, DGA 4/21/2014 3 3300009443 Faith P23219 5742 PTGS1 Homo sapiens 9606 Comment/tissue specificity In fetal kidney, COX-1 was primarily expressed in podocytes and collecting duct cells. Expression levels of COX-1 in both cell types increased markedly from subcapsular to juxtamedullary cortex. Interstitial cells also have faint COX-1 positivity. Immunoreactive protein was also detected in endothelial cells and smooth muscles cells of arteries, arterioles, and veins. arterial endothelial cell BTO:0004758 fetus BTO:0000449 endothelial cell of artery CL:1000413 Y Y ECO:0000006 PubMed:9140046 PENTACON From primary source: PubMed:12093889 AAP, DGA 4/21/2014 3 3300009444 Faith P23219 5742 PTGS1 Homo sapiens 9606 Comment/tissue specificity In fetal kidney, COX-1 was primarily expressed in podocytes and collecting duct cells. Expression levels of COX-1 in both cell types increased markedly from subcapsular to juxtamedullary cortex. Interstitial cells also have faint COX-1 positivity. Immunoreactive protein was also detected in endothelial cells and smooth muscles cells of arteries, arterioles, and veins. cortical collecting duct BTO:0002643 fetus BTO:0000449 kidney collecting duct cell CL:1001225 Y Y ECO:0000006 PubMed:9140046 PENTACON From primary source: PubMed:12093889 AAP, DGA 4/21/2014 3 3300009445 Faith P23219 5742 PTGS1 Homo sapiens 9606 Comment/tissue specificity In fetal kidney, COX-1 was primarily expressed in podocytes and collecting duct cells. Expression levels of COX-1 in both cell types increased markedly from subcapsular to juxtamedullary cortex. Interstitial cells also have faint COX-1 positivity. Immunoreactive protein was also detected in endothelial cells and smooth muscles cells of arteries, arterioles, and veins. cortical collecting duct UBERON:0004203 fetus BTO:0000449 kidney collecting duct cell CL:1001225 Y Y ECO:0000006 PubMed:9140046 PENTACON From primary source: PubMed:12093889 AAP, DGA 4/21/2014 3 3300009446 Faith P23219 5742 PTGS1 Homo sapiens 9606 Comment/tissue specificity In fetal kidney, COX-1 was primarily expressed in podocytes and collecting duct cells. Expression levels of COX-1 in both cell types increased markedly from subcapsular to juxtamedullary cortex. Interstitial cells also have faint COX-1 positivity. Immunoreactive protein was also detected in endothelial cells and smooth muscles cells of arteries, arterioles, and veins. medullary collecting duct cell BTO:0004535 fetus BTO:0000449 kidney collecting duct cell CL:1001225 Y Y ECO:0000006 PubMed:9140046 PENTACON From primary source: PubMed:12093889 AAP, DGA 4/21/2014 3 3300009447 Faith P23219 5742 PTGS1 Homo sapiens 9606 Comment/tissue specificity In fetal kidney, COX-1 was primarily expressed in podocytes and collecting duct cells. Expression levels of COX-1 in both cell types increased markedly from subcapsular to juxtamedullary cortex. Interstitial cells also have faint COX-1 positivity. Immunoreactive protein was also detected in endothelial cells and smooth muscles cells of arteries, arterioles, and veins. podocyte BTO:0002295 fetus BTO:0000449 glomerular visceral epithelial cell CL:0000653 Y Y ECO:0000006 PubMed:9140046 PENTACON From primary source: PubMed:12093889 AAP, DGA 4/21/2014 3 3300009448 Faith P23219 5742 PTGS1 Homo sapiens 9606 Comment/tissue specificity In fetal kidney, COX-1 was primarily expressed in podocytes and collecting duct cells. Expression levels of COX-1 in both cell types increased markedly from subcapsular to juxtamedullary cortex. Interstitial cells also have faint COX-1 positivity. Immunoreactive protein was also detected in endothelial cells and smooth muscles cells of arteries, arterioles, and veins. vascular endothelial cell BTO:0001854 fetus BTO:0000449 endothelial cell of arteriole CL:1000412 Y Y ECO:0000006 PubMed:9140046 PENTACON From primary source: PubMed:12093889 AAP, DGA 4/21/2014 3 3300009449 Faith P23219 5742 PTGS1 Homo sapiens 9606 Comment/tissue specificity In fetal kidney, COX-1 was primarily expressed in podocytes and collecting duct cells. Expression levels of COX-1 in both cell types increased markedly from subcapsular to juxtamedullary cortex. Interstitial cells also have faint COX-1 positivity. Immunoreactive protein was also detected in endothelial cells and smooth muscles cells of arteries, arterioles, and veins. vascular smooth muscle cell BTO:0004578 fetus BTO:0000449 kidney artery smooth muscle cell CL:1001064 Y Y ECO:0000006 PubMed:9140046 PENTACON From primary source: PubMed:12093889 AAP, DGA 4/21/2014 3 3300009450 Faith P23219 5742 PTGS1 Homo sapiens 9606 Comment/tissue specificity In fetal kidney, COX-1 was primarily expressed in podocytes and collecting duct cells. Expression levels of COX-1 in both cell types increased markedly from subcapsular to juxtamedullary cortex. Interstitial cells also have faint COX-1 positivity. Immunoreactive protein was also detected in endothelial cells and smooth muscles cells of arteries, arterioles, and veins. vascular smooth muscle cell BTO:0004578 fetus BTO:0000449 kidney venous system smooth muscle cell CL:1001068 Y Y ECO:0000006 PubMed:9140046 PENTACON From primary source: PubMed:12093889 AAP, DGA 4/21/2014 3 3300009451 Faith P23219 5742 PTGS1 Homo sapiens 9606 Comment/tissue specificity In fetal kidney, COX-1 was primarily expressed in podocytes and collecting duct cells. Expression levels of COX-1 in both cell types increased markedly from subcapsular to juxtamedullary cortex. Interstitial cells also have faint COX-1 positivity. Immunoreactive protein was also detected in endothelial cells and smooth muscles cells of arteries, arterioles, and veins. venous endothelial cell BTO:0004759 fetus BTO:0000449 vein endothelial cell CL:0002543 Y Y ECO:0000006 PubMed:9140046 PENTACON From primary source: PubMed:12093889 AAP, DGA 4/21/2014 3 3300009452 Faith P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity In fetal kidney, COX-2 was found primarily in endothelial and smooth muscle cells of arteries and veins. Glomerular expression was detectable in juxtamedullary glomeruli. arterial endothelial cell BTO:0004758 fetus BTO:0000449 endothelial cell of artery CL:1000413 Y Y ECO:0000006 PubMed:9140046 PENTACON From primary source: PubMed:12093889 AAP, DGA 4/21/2014 3 3300009453 Faith P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity In fetal kidney, COX-2 was found primarily in endothelial and smooth muscle cells of arteries and veins. Glomerular expression was detectable in juxtamedullary glomeruli. renal glomerulus BTO:0000530 fetus BTO:0000449 Y Y ECO:0000006 PubMed:9140046 PENTACON From primary source: PubMed:12093889;juxtamedullary glomeruli AAP, DGA 4/21/2014 3 3300009454 Faith P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity In fetal kidney, COX-2 was found primarily in endothelial and smooth muscle cells of arteries and veins. Glomerular expression was detectable in juxtamedullary glomeruli. renal glomerulus UBERON:0000074 fetus BTO:0000449 Y Y ECO:0000006 PubMed:9140046 PENTACON From primary source: PubMed:12093889;juxtamedullary glomeruli AAP, DGA 4/21/2014 3 3300009455 Faith P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity In fetal kidney, COX-2 was found primarily in endothelial and smooth muscle cells of arteries and veins. Glomerular expression was detectable in juxtamedullary glomeruli. vascular smooth muscle cell BTO:0004578 fetus BTO:0000449 kidney artery smooth muscle cell CL:1001064 Y Y ECO:0000006 PubMed:9140046 PENTACON From primary source: PubMed:12093889 AAP, DGA 4/21/2014 3 3300009456 Faith P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity In fetal kidney, COX-2 was found primarily in endothelial and smooth muscle cells of arteries and veins. Glomerular expression was detectable in juxtamedullary glomeruli. vascular smooth muscle cell BTO:0004578 fetus BTO:0000449 kidney venous system smooth muscle cell CL:1001068 Y Y ECO:0000006 PubMed:9140046 PENTACON From primary source: PubMed:12093889 AAP, DGA 4/21/2014 3 3300009457 Faith P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity In fetal kidney, COX-2 was found primarily in endothelial and smooth muscle cells of arteries and veins. Glomerular expression was detectable in juxtamedullary glomeruli. venous endothelial cell BTO:0004759 fetus BTO:0000449 vein endothelial cell CL:0002543 Y Y ECO:0000006 PubMed:9140046 PENTACON From primary source: PubMed:12093889 AAP, DGA 4/21/2014 3 3300009458 Jenn P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity In two human fetal kidneys (gestational weeks 29 and 30), COX-2 immunoreactivity was associated with the parietal epithelial cells of Bowman's capsule and with endothelium and vascular smooth muscle glomerular epithelium BTO:0001515 fetus BTO:0000449 Y Y ECO:0000006 Pubmed:15100359 PENTACON From review: Pubmed:17003913 AAP, DGA 4/21/2014 3 3300009459 Jenn P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity In two human fetal kidneys (gestational weeks 29 and 30), COX-2 immunoreactivity was associated with the parietal epithelial cells of Bowman's capsule and with endothelium and vascular smooth muscle glomerular parietal epithelium UBERON:0005750 fetus BTO:0000449 Y Y ECO:0000006 Pubmed:15100359 PENTACON From review: Pubmed:17003913 AAP, DGA 4/21/2014 3 3300009460 Faith P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity Incubation of the whole blood from subjects receiving COX-2 inhibitor nimesulide with LPS ex vivo resulted in a marked suppression of LPS-induced PGE2 generation blood BTO:0000089 nimesulide CHEBI:44445 Y Y ECO:0000006 PubMed:9808683 PENTACON From review: PubMed:20059330 AAP, DGA 4/21/2014 3 3300009461 Faith P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity Incubation of the whole blood from subjects receiving COX-2 inhibitor nimesulide with LPS ex vivo resulted in a marked suppression of LPS-induced PGE2 generation blood UBERON:0000178 nimesulide CHEBI:44445 Y Y ECO:0000006 PubMed:9808683 PENTACON From review: PubMed:20059330 AAP, DGA 4/21/2014 3 3300009462 Jenn P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity Induced by inflammatory and mitogenic stimuli in monocytes/macrophages, synoviocytes, chondrocytes, and fibroblasts; induced by laminar shear stress and platelet microparticles in vascular endothelial cells; induced by hormones in the ovaries and fetal membranes; constitutive in the CNS, kidney, testes, tracheal epithelial cells central nervous system BTO:0000227 Y Y ECO:0000033 Pubmed:11157642 PENTACON From review: Pubmed:19095631 AAP, DGA 4/21/2014 3 3300009463 Jenn P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity Induced by inflammatory and mitogenic stimuli in monocytes/macrophages, synoviocytes, chondrocytes, and fibroblasts; induced by laminar shear stress and platelet microparticles in vascular endothelial cells; induced by hormones in the ovaries and fetal membranes; constitutive in the CNS, kidney, testes, tracheal epithelial cells central nervous system UBERON:0001017 Y Y ECO:0000033 Pubmed:11157642 PENTACON From review: Pubmed:19095631 AAP, DGA 4/21/2014 3 3300009464 Jenn P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity Induced by inflammatory and mitogenic stimuli in monocytes/macrophages, synoviocytes, chondrocytes, and fibroblasts; induced by laminar shear stress and platelet microparticles in vascular endothelial cells; induced by hormones in the ovaries and fetal membranes; constitutive in the CNS, kidney, testes, tracheal epithelial cells chondrocyte BTO:0000249 chondrocyte CL:0000138 Y Y ECO:0000033 Pubmed:11157642 PENTACON From review: Pubmed:19095631; inducible by inflammatory and mitogenic stimuli AAP, DGA 4/21/2014 3 3300009465 Jenn P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity Induced by inflammatory and mitogenic stimuli in monocytes/macrophages, synoviocytes, chondrocytes, and fibroblasts; induced by laminar shear stress and platelet microparticles in vascular endothelial cells; induced by hormones in the ovaries and fetal membranes; constitutive in the CNS, kidney, testes, tracheal epithelial cells fetal membrane BTO:0000473 Y Y ECO:0000033 Pubmed:11157642 PENTACON From review: Pubmed:19095631; inducible by hormones AAP, DGA 4/21/2014 3 3300009466 Jenn P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity Induced by inflammatory and mitogenic stimuli in monocytes/macrophages, synoviocytes, chondrocytes, and fibroblasts; induced by laminar shear stress and platelet microparticles in vascular endothelial cells; induced by hormones in the ovaries and fetal membranes; constitutive in the CNS, kidney, testes, tracheal epithelial cells fetal membrane UBERON:0005630 Y Y ECO:0000033 Pubmed:11157642 PENTACON From review: Pubmed:19095631; inducible by hormones AAP, DGA 4/21/2014 3 3300009467 Jenn P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity Induced by inflammatory and mitogenic stimuli in monocytes/macrophages, synoviocytes, chondrocytes, and fibroblasts; induced by laminar shear stress and platelet microparticles in vascular endothelial cells; induced by hormones in the ovaries and fetal membranes; constitutive in the CNS, kidney, testes, tracheal epithelial cells fibroblast BTO:0000452 fibroblast CL:0000057 Y Y ECO:0000033 Pubmed:11157642 PENTACON From review: Pubmed:19095631; inducible by inflammatory and mitogenic stimuli AAP, DGA 4/21/2014 3 3300009468 Jenn P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity Induced by inflammatory and mitogenic stimuli in monocytes/macrophages, synoviocytes, chondrocytes, and fibroblasts; induced by laminar shear stress and platelet microparticles in vascular endothelial cells; induced by hormones in the ovaries and fetal membranes; constitutive in the CNS, kidney, testes, tracheal epithelial cells kidney BTO:0000671 Y Y ECO:0000033 Pubmed:11157642 PENTACON From review: Pubmed:19095631 AAP, DGA 4/21/2014 3 3300009469 Jenn P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity Induced by inflammatory and mitogenic stimuli in monocytes/macrophages, synoviocytes, chondrocytes, and fibroblasts; induced by laminar shear stress and platelet microparticles in vascular endothelial cells; induced by hormones in the ovaries and fetal membranes; constitutive in the CNS, kidney, testes, tracheal epithelial cells kidney UBERON:0002113 Y Y ECO:0000033 Pubmed:11157642 PENTACON From review: Pubmed:19095631 AAP, DGA 4/21/2014 3 3300009470 Jenn P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity Induced by inflammatory and mitogenic stimuli in monocytes/macrophages, synoviocytes, chondrocytes, and fibroblasts; induced by laminar shear stress and platelet microparticles in vascular endothelial cells; induced by hormones in the ovaries and fetal membranes; constitutive in the CNS, kidney, testes, tracheal epithelial cells macrophage BTO:0000801 macrophage CL:0000235 Y Y ECO:0000033 Pubmed:11157642 PENTACON From review: Pubmed:19095631; inducible by inflammatory and mitogenic stimuli AAP, DGA 4/21/2014 3 3300009471 Jenn P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity Induced by inflammatory and mitogenic stimuli in monocytes/macrophages, synoviocytes, chondrocytes, and fibroblasts; induced by laminar shear stress and platelet microparticles in vascular endothelial cells; induced by hormones in the ovaries and fetal membranes; constitutive in the CNS, kidney, testes, tracheal epithelial cells monocyte BTO:0000876 monocyte CL:0000576 Y Y ECO:0000033 Pubmed:11157642 PENTACON From review: Pubmed:19095631; inducible by inflammatory and mitogenic stimuli AAP, DGA 4/21/2014 3 3300009472 Jenn P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity Induced by inflammatory and mitogenic stimuli in monocytes/macrophages, synoviocytes, chondrocytes, and fibroblasts; induced by laminar shear stress and platelet microparticles in vascular endothelial cells; induced by hormones in the ovaries and fetal membranes; constitutive in the CNS, kidney, testes, tracheal epithelial cells ovary BTO:0000975 Y Y ECO:0000033 Pubmed:11157642 PENTACON From review: Pubmed:19095631; inducible by hormones AAP, DGA 4/21/2014 3 3300009473 Jenn P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity Induced by inflammatory and mitogenic stimuli in monocytes/macrophages, synoviocytes, chondrocytes, and fibroblasts; induced by laminar shear stress and platelet microparticles in vascular endothelial cells; induced by hormones in the ovaries and fetal membranes; constitutive in the CNS, kidney, testes, tracheal epithelial cells female gonad UBERON:0000992 Y Y ECO:0000033 Pubmed:11157642 PENTACON From review: Pubmed:19095631; inducible by hormones AAP, DGA 4/21/2014 3 3300009474 Jenn P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity Induced by inflammatory and mitogenic stimuli in monocytes/macrophages, synoviocytes, chondrocytes, and fibroblasts; induced by laminar shear stress and platelet microparticles in vascular endothelial cells; induced by hormones in the ovaries and fetal membranes; constitutive in the CNS, kidney, testes, tracheal epithelial cells synovial cell BTO:0003652 synovial cell CL:0000214 Y Y ECO:0000033 Pubmed:11157642 PENTACON From review: Pubmed:19095631; inducible by inflammatory and mitogenic stimuli AAP, DGA 4/21/2014 3 3300009475 Jenn P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity Induced by inflammatory and mitogenic stimuli in monocytes/macrophages, synoviocytes, chondrocytes, and fibroblasts; induced by laminar shear stress and platelet microparticles in vascular endothelial cells; induced by hormones in the ovaries and fetal membranes; constitutive in the CNS, kidney, testes, tracheal epithelial cells testis BTO:0001363 Y Y ECO:0000033 Pubmed:11157642 PENTACON From review: Pubmed:19095631 AAP, DGA 4/21/2014 3 3300009476 Jenn P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity Induced by inflammatory and mitogenic stimuli in monocytes/macrophages, synoviocytes, chondrocytes, and fibroblasts; induced by laminar shear stress and platelet microparticles in vascular endothelial cells; induced by hormones in the ovaries and fetal membranes; constitutive in the CNS, kidney, testes, tracheal epithelial cells testis UBERON:0000473 Y Y ECO:0000033 Pubmed:11157642 PENTACON From review: Pubmed:19095631 AAP, DGA 4/21/2014 3 3300009477 Jenn P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity Induced by inflammatory and mitogenic stimuli in monocytes/macrophages, synoviocytes, chondrocytes, and fibroblasts; induced by laminar shear stress and platelet microparticles in vascular endothelial cells; induced by hormones in the ovaries and fetal membranes; constitutive in the CNS, kidney, testes, tracheal epithelial cells tracheal epithelium BTO:0001389 epithelial cell CL:0000066 Y Y ECO:0000033 Pubmed:11157642 PENTACON From review: Pubmed:19095631 AAP, DGA 4/21/2014 3 3300009478 Jenn P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity Induced by inflammatory and mitogenic stimuli in monocytes/macrophages, synoviocytes, chondrocytes, and fibroblasts; induced by laminar shear stress and platelet microparticles in vascular endothelial cells; induced by hormones in the ovaries and fetal membranes; constitutive in the CNS, kidney, testes, tracheal epithelial cells epithelium of trachea UBERON:0001901 epithelial cell CL:0000066 Y Y ECO:0000033 Pubmed:11157642 PENTACON From review: Pubmed:19095631 AAP, DGA 4/21/2014 3 3300009479 Jenn P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity Induced by inflammatory and mitogenic stimuli in monocytes/macrophages, synoviocytes, chondrocytes, and fibroblasts; induced by laminar shear stress and platelet microparticles in vascular endothelial cells; induced by hormones in the ovaries and fetal membranes; constitutive in the CNS, kidney, testes, tracheal epithelial cells vascular endothelial cell BTO:0001854 blood vessel endothelial cell CL:0000071 Y Y ECO:0000033 Pubmed:11157642 PENTACON From review: Pubmed:19095631; inducible by laminar shear stress and platelet microparticles AAP, DGA 4/21/2014 3 3300009480 Jenn P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity inhibition of baseline and furosemide stimulated renin release by a specific COX-2 inhibitor in healthy volunteers with normal salt intake regulation of renin secretion into blood stream GO:1900133 kidney BTO:0000671 celecoxib CHEBI:41423 Y Y ECO:0000006 Pubmed:16221219 PENTACON From review: Pubmed:17003913 AAP, DGA 4/21/2014 3 3300009481 Jenn P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity inhibition of baseline and furosemide stimulated renin release by a specific COX-2 inhibitor in healthy volunteers with normal salt intake regulation of renin secretion into blood stream GO:1900133 kidney UBERON:0002113 celecoxib CHEBI:41423 Y Y ECO:0000006 Pubmed:16221219 PENTACON From review: Pubmed:17003913 AAP, DGA 4/21/2014 3 3300009482 Jenn P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity inhibition of baseline and furosemide stimulated renin release by a specific COX-2 inhibitor in healthy volunteers with normal salt intake regulation of aldosterone secretion GO:2000858 kidney BTO:0000671 celecoxib CHEBI:41423 Y Y ECO:0000006 Pubmed:16221219 PENTACON From review: Pubmed:17003913 AAP, DGA 4/21/2014 3 3300009483 Jenn P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity inhibition of baseline and furosemide stimulated renin release by a specific COX-2 inhibitor in healthy volunteers with normal salt intake regulation of aldosterone secretion GO:2000858 kidney UBERON:0002113 celecoxib CHEBI:41423 Y Y ECO:0000006 Pubmed:16221219 PENTACON From review: Pubmed:17003913 AAP, DGA 4/21/2014 3 3300009484 Jenn P23219 5742 PTGS1 Homo sapiens 9606 Comment/tissue specificity Inhibition of Cox1 activity in platelets and Cox2 activity in monocytes in response to various NSAIDs blood platelet BTO:0000132 platelet CL:0000233 Y Y ECO:0000006 Pubmed:18992652 PENTACON From review: Pubmed:19095631 AAP, DGA 4/21/2014 3 3300009485 Jenn P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity Inhibition of Cox1 activity in platelets and Cox2 activity in monocytes in response to various NSAIDs monocyte BTO:0000876 monocyte CL:0000576 Y Y ECO:0000006 Pubmed:18992652 PENTACON From review: Pubmed:19095631 AAP, DGA 4/21/2014 3 3300009486 Jenn/Faith P23219 5742 PTGS1 Homo sapiens 9606 Comment/tissue specificity Inhibition of Cox1 and Cox2 is associated with a transient but significant decline in urinary sodium excretion. The glomerular filtration rate (GFR) was decreased by indomethacin (Cox1 inhibition) but was not changed significantly by MK-966 (Cox2 inhibition) treatment. Thromboxane biosynthesis by platelets was inhibited by indomethacin only. blood platelet BTO:0000132 platelet CL:0000233 indometacin CHEBI:49662 Y Y ECO:0000006 Pubmed:10215647 PENTACON From review: Pubmed:17003913;From review: Pubmed:20059330 AAP, DGA 4/21/2014 3 3300009487 Jenn/Faith P23219 5742 PTGS1 Homo sapiens 9606 Comment/tissue specificity Inhibition of Cox1 and Cox2 is associated with a transient but significant decline in urinary sodium excretion. The glomerular filtration rate (GFR) was decreased by indomethacin (Cox1 inhibition) but was not changed significantly by MK-966 (Cox2 inhibition) treatment. Thromboxane biosynthesis by platelets was inhibited by indomethacin only. positive regulation of renal sodium excretion GO:0035815 kidney BTO:0000671 indometacin CHEBI:49662 Y Y ECO:0000006 Pubmed:10215647 PENTACON From review: Pubmed:17003913;From review: Pubmed:20059330 AAP, DGA 4/21/2014 3 3300009488 Jenn/Faith P23219 5742 PTGS1 Homo sapiens 9606 Comment/tissue specificity Inhibition of Cox1 and Cox2 is associated with a transient but significant decline in urinary sodium excretion. The glomerular filtration rate (GFR) was decreased by indomethacin (Cox1 inhibition) but was not changed significantly by MK-966 (Cox2 inhibition) treatment. Thromboxane biosynthesis by platelets was inhibited by indomethacin only. positive regulation of renal sodium excretion GO:0035815 kidney UBERON:0002113 indometacin CHEBI:49662 Y Y ECO:0000006 Pubmed:10215647 PENTACON From review: Pubmed:17003913;From review: Pubmed:20059330 AAP, DGA 4/21/2014 3 3300009489 Jenn/Faith P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity Inhibition of Cox1 and Cox2 is associated with a transient but significant decline in urinary sodium excretion. The glomerular filtration rate (GFR) was decreased by indomethacin (Cox1 inhibition) but was not changed significantly by MK-966 (Cox2 inhibition) treatment. Thromboxane biosynthesis by platelets was inhibited by indomethacin only. positive regulation of renal sodium excretion GO:0035815 kidney BTO:0000671 indometacin CHEBI:49662 Y Y ECO:0000006 Pubmed:10215647 PENTACON From review: Pubmed:17003913;From review: Pubmed:20059330 AAP, DGA 4/21/2014 3 3300009490 Jenn/Faith P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity Inhibition of Cox1 and Cox2 is associated with a transient but significant decline in urinary sodium excretion. The glomerular filtration rate (GFR) was decreased by indomethacin (Cox1 inhibition) but was not changed significantly by MK-966 (Cox2 inhibition) treatment. Thromboxane biosynthesis by platelets was inhibited by indomethacin only. positive regulation of renal sodium excretion GO:0035815 kidney UBERON:0002113 indometacin CHEBI:49662 Y Y ECO:0000006 Pubmed:10215647 PENTACON From review: Pubmed:17003913;From review: Pubmed:20059330 AAP, DGA 4/21/2014 3 3300009491 Jenn/Faith P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity Inhibition of Cox1 and Cox2 is associated with a transient but significant decline in urinary sodium excretion. The glomerular filtration rate (GFR) was decreased by indomethacin (Cox1 inhibition) but was not changed significantly by MK-966 (Cox2 inhibition) treatment. Thromboxane biosynthesis by platelets was inhibited by indomethacin only. positive regulation of renal sodium excretion GO:0035815 kidney BTO:0000671 rofecoxib CHEBI:8887 Y Y ECO:0000006 Pubmed:10215647 PENTACON From review: Pubmed:17003913;From review: Pubmed:20059330 AAP, DGA 4/21/2014 3 3300009492 Jenn/Faith P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity Inhibition of Cox1 and Cox2 is associated with a transient but significant decline in urinary sodium excretion. The glomerular filtration rate (GFR) was decreased by indomethacin (Cox1 inhibition) but was not changed significantly by MK-966 (Cox2 inhibition) treatment. Thromboxane biosynthesis by platelets was inhibited by indomethacin only. positive regulation of renal sodium excretion GO:0035815 kidney UBERON:0002113 rofecoxib CHEBI:8887 Y Y ECO:0000006 Pubmed:10215647 PENTACON From review: Pubmed:17003913;From review: Pubmed:20059330 AAP, DGA 4/21/2014 3 3300009493 Faith P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity Interleukin-18 enhances COX-2 enzyme activity in human mesangial cells. mesangial cell BTO:0000853 mesangial cell CL:0000650 Y Y ECO:0000006 PubMed:22433003 PENTACON AAP, DGA 4/21/2014 3 3300009494 Jenn/Faith P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity Low to undetectable levels of COX2 are present in normal mucosa samples however a COX2 transcript is apparent in 12 of 14 colorectal carcinomas colonic mucosa BTO:0000271 Y Y ECO:0000006 Pubmed:7926468 PENTACON From review: PMID: 20168319 AAP, DGA 4/21/2014 3 3300009495 Jenn/Faith P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity Low to undetectable levels of COX2 are present in normal mucosa samples however a COX2 transcript is apparent in 12 of 14 colorectal carcinomas colonic mucosa UBERON:0000317 Y Y ECO:0000006 Pubmed:7926468 PENTACON From review: PMID: 20168319 AAP, DGA 4/21/2014 3 3300009496 Jenn P23219 5742 PTGS1 Homo sapiens 9606 Comment/tissue specificity Most tissues, but particularly platelets, stomach, and kidney blood platelet BTO:0000132 platelet CL:0000233 Y Y ECO:0000033 Pubmed:11157642 PENTACON From review: Pubmed:19095631 AAP, DGA 4/21/2014 3 3300009497 Jenn P23219 5742 PTGS1 Homo sapiens 9606 Comment/tissue specificity Most tissues, but particularly platelets, stomach, and kidney kidney BTO:0000671 Y Y ECO:0000033 Pubmed:11157642 PENTACON From review: Pubmed:19095631 AAP, DGA 4/21/2014 3 3300009498 Jenn P23219 5742 PTGS1 Homo sapiens 9606 Comment/tissue specificity Most tissues, but particularly platelets, stomach, and kidney kidney UBERON:0002113 Y Y ECO:0000033 Pubmed:11157642 PENTACON From review: Pubmed:19095631 AAP, DGA 4/21/2014 3 3300009499 Jenn P23219 5742 PTGS1 Homo sapiens 9606 Comment/tissue specificity Most tissues, but particularly platelets, stomach, and kidney stomach BTO:0001307 Y Y ECO:0000033 Pubmed:11157642 PENTACON From review: Pubmed:19095631 AAP, DGA 4/21/2014 3 3300009500 Jenn P23219 5742 PTGS1 Homo sapiens 9606 Comment/tissue specificity Most tissues, but particularly platelets, stomach, and kidney stomach UBERON:0000945 Y Y ECO:0000033 Pubmed:11157642 PENTACON From review: Pubmed:19095631 AAP, DGA 4/21/2014 3 3300009501 Faith P35354 5743 PTGS2 Homo sapiens 9606 Comment/Involvement in disease PGF2alpha increased matrix metalloproteinase 1 (MMP-1) secretion by cultured human uterine cervical fibroblast cells. (This evidence is related to PTGS2 through PubMed:18703136, which showed that PGF2alpha upregulated COX-2 expression and led to more PGF2alpha production). uterine cervix UBERON:0000002 fibroblast BTO:0000452 Fibrosis SNOMEDCT:112674009 Y Y ECO:0000006 PubMed:12087084 PENTACON From primary source: PubMed:19376970; From review: PubMed:20059330;Evidence for Heart - fibroblasts Review Fig. 2; Evidence for fibrosis in conjunction with PubMed:18703136 AAP, DGA 4/21/2014 3 3300009502 Jenn/Faith P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity Prostaglandin I2 had previously been shown to be the predominant cyclooxygenase product in endothelium, inhibiting platelet aggregation, causing vasodilatation, and preventing the proliferation of vascular smooth-muscle cells in vitro. However, it was assumed that prostaglandin I2 was derived mainly from COX-1, the only cyclooxygenase species expressed constitutively in endothelial cells. This assumption later proved incorrect, since studies in mice and humans showed that COX-2 was the dominant source vasodilation GO:0042311 endothelial cell BTO:0001176 endothelial cell CL:0000115 Y Y ECO:0000033 Pubmed:15470192 PENTACON From review: 20168319 AAP, DGA 4/21/2014 3 3300009503 Jenn/Faith P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity Prostaglandin I2 had previously been shown to be the predominant cyclooxygenase product in endothelium, inhibiting platelet aggregation, causing vasodilatation, and preventing the proliferation of vascular smooth-muscle cells in vitro. However, it was assumed that prostaglandin I2 was derived mainly from COX-1, the only cyclooxygenase species expressed constitutively in endothelial cells. This assumption later proved incorrect, since studies in mice and humans showed that COX-2 was the dominant source negative regulation of platelet aggregation GO:0090331 endothelial cell BTO:0001176 endothelial cell CL:0000115 Y Y ECO:0000033 Pubmed:15470192 PENTACON From review: 20168319 AAP, DGA 4/21/2014 3 3300009504 Faith P23219 5742 PTGS1 Homo sapiens 9606 Comment/tissue specificity Serum TXB2 was markedly suppressed in whole blood from subjects receiving aspirin but not nimesulide blood BTO:0000089 acetylsalicylic acid CHEBI:15365 Y Y ECO:0000006 PubMed:9808683 PENTACON From review: PubMed:20059330 AAP, DGA 4/21/2014 3 3300009506 Faith P23219 5742 PTGS1 Homo sapiens 9606 Comment/tissue specificity Serum TXB2 was markedly suppressed in whole blood from subjects receiving aspirin but not nimesulide blood UBERON:0000178 acetylsalicylic acid CHEBI:15365 Y Y ECO:0000006 PubMed:9808683 PENTACON From review: PubMed:20059330 AAP, DGA 4/21/2014 3 3300009507 Faith P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity Sphingosine 1-phosphate treatment for 2 h induced COX-2 protein levels in human primary mesangial cells in a concentration dependent manner. mesangial cell BTO:0000853 mesangial cell CL:0000650 Y Y ECO:0000006 PubMed:24064301 PENTACON inducible:sphingosine 1-phosphate;COX-1 found in rat mesangial cells AAP, DGA 4/21/2014 3 3300009508 Faith P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity The accelerated thrombotic response to pharmacological perturbation of PGI2 produced by PTGS2 in vascular smooth muscle is explicable by its actions on the coagulation system (induction of thrombomodulin negatively regulating thrombosis). coronary artery smooth muscle cell BTO:0005101 smooth muscle cell of the coronary artery CL:0002592 Thrombosis of blood vessel SNOMEDCT:439129009 Y Y ECO:0000033 PubMed:20059330 PENTACON FC: Tilo said that the negative regulation of thrombosis has a protective effect against adverse cardiovascular events.<--JR: I believe this is consistent with the figure, see comment below FC: No DOID term. AAP, DGA 4/21/2014 3 3300009509 Jenn P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity The PHS2 message levels in cells stimulated with IL-1, PMA, or LPS showed significant increases, relative to control cells, after a 4-h incubation. Cells stimulated with TNF required 12 h of incubation before PHS I1 message induction was observed HUVEC cell BTO:0001949 lipopolysaccharide CHEBI:16412 Y Y ECO:0000006 Pubmed:8473346 PENTACON Pubmed:16395396 AAP, DGA 4/21/2014 3 3300009510 Jenn P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity The PHS2 message levels in cells stimulated with IL-1, PMA, or LPS showed significant increases, relative to control cells, after a 4-h incubation. Cells stimulated with TNF required 12 h of incubation before PHS I1 message induction was observed HUVEC cell BTO:0001949 interleukins CHEBI:52998 Y Y ECO:0000006 Pubmed:8473346 PENTACON Pubmed:16395396 AAP, DGA 4/21/2014 3 3300009511 Jenn P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity The PHS2 message levels in cells stimulated with IL-1, PMA, or LPS showed significant increases, relative to control cells, after a 4-h incubation. Cells stimulated with TNF required 12 h of incubation before PHS I1 message induction was observed HUVEC cell BTO:0001949 phorbol 13-acetate 12-myristate CHEBI:37537 Y Y ECO:0000006 Pubmed:8473346 PENTACON Pubmed:16395396 AAP, DGA 4/21/2014 3 3300009512 Jenn P23219 5742 PTGS1 Homo sapiens 9606 Comment/tissue specificity Vascular expression of both COX isoforms was examined by Western blot tests of proteins isolated from human renal artery renal artery BTO:0001165 Y Y ECO:0000006 Pubmed:15100359 PENTACON From review: Pubmed:17003913 AAP, DGA 4/21/2014 3 3300009513 Jenn P23219 5742 PTGS1 Homo sapiens 9606 Comment/tissue specificity Vascular expression of both COX isoforms was examined by Western blot tests of proteins isolated from human renal artery renal artery UBERON:0001184 Y Y ECO:0000006 Pubmed:15100359 PENTACON From review: Pubmed:17003913 AAP, DGA 4/21/2014 3 3300009514 Jenn P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity Vascular expression of both COX isoforms was examined by Western blot tests of proteins isolated from human renal artery renal artery BTO:0001165 Y Y ECO:0000006 Pubmed:15100359 PENTACON From review: Pubmed:17003913 AAP, DGA 4/21/2014 3 3300009515 Jenn P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity Vascular expression of both COX isoforms was examined by Western blot tests of proteins isolated from human renal artery renal artery UBERON:0001184 Y Y ECO:0000006 Pubmed:15100359 PENTACON From review: Pubmed:17003913 AAP, DGA 4/21/2014 3 3300009516 Jenn P23219 5742 PTGS1 Homo sapiens 9606 Comment/tissue specificity VEGF and bFGF up-regulated COX-1 and COX-2 expression at 4 hours in HMECs HMEpC cell BTO:0002178 luminal epithelial cell of mammary gland CL:0002326 Y Y ECO:0000006 Pubmed:12791666 PENTACON From review: 20168319 AAP, DGA 4/21/2014 3 3300009517 Jenn P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity VEGF and bFGF up-regulated COX-1 and COX-2 expression at 4 hours in HMECs HMEpC cell BTO:0002178 luminal epithelial cell of mammary gland CL:0002326 Y Y ECO:0000006 Pubmed:12791666 PENTACON From review: 20168319; inducible by VEGF and bFGF AAP, DGA 4/21/2014 3 3300009518 Jenn P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity We isolated a full length PHS I1 cDNA by using the PHSII890 insert as a probe to screen a Xgtll library from human umbilical vein endothelial cells HUVEC cell BTO:0001949 Y Y ECO:0000006 Pubmed:8473346 PENTACON Pubmed:16395396 AAP, DGA 4/21/2014 3 3300009520 Jenn P23219 5742 PTGS1 Homo sapiens 9606 Comment/tissue specificity Western blot analysis showed that static HUVECs expressed COX-1, PGIS, TXS, PGFS, L-PGDS, cPGES, and mPGES-2 but not mPGES-1 and H-PGDS. A low expression of COX-2 was detected. In HUVECs subjected to steady LSS COX-2 was significantly induced HUVEC cell BTO:0001949 Y Y ECO:0000006 Pubmed:19122175 PENTACON From review: Pubmed:21508345 AAP, DGA 4/21/2014 3 3300009521 Jenn P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity Western blot analysis showed that static HUVECs expressed COX-1, PGIS, TXS, PGFS, L-PGDS, cPGES, and mPGES-2 but not mPGES-1 and H-PGDS. A low expression of COX-2 was detected. In HUVECs subjected to steady LSS COX-2 was significantly induced HUVEC cell BTO:0001949 Y Y ECO:0000006 Pubmed:19122175 PENTACON From review: Pubmed:21508345; induced by laminar shear stress AAP, DGA 4/21/2014 3 3300009522 Jenn/Faith P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity Western blot analysis showed that static HUVECs expressed COX-1, PGIS, TXS, PGFS, L-PGDS, cPGES, and mPGES-2 but not mPGES-1 and H-PGDS. A low expression of COX-2 was detected. In HUVECs subjected to steady LSS COX-2 was significantly induced HUVEC cell BTO:0001949 Y Y ECO:0000006 Pubmed:19122175 PENTACON From review: Pubmed:21508345; AAP, DGA 4/21/2014 3 3300009523 Faith P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity This study shows that COX-2 inhibitors have the potential to cause renal impairment in patients who rely on prostaglandins to counterbalance endogenous vasoconstrictors and maintain renal function kidney BTO:0000671 kidney failure DOID:1074 Renal failure SNOMEDCT:198524000 Y Y ECO:0000006 PubMed:11448662 PENTACON From review: PubMed:20059330 AAP, DGA 4/21/2014 3 3300009524 Faith P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity This study shows that COX-2 inhibitors have the potential to cause renal impairment in patients who rely on prostaglandins to counterbalance endogenous vasoconstrictors and maintain renal function kidney UBERON:0002113 kidney failure DOID:1074 Renal failure SNOMEDCT:198524000 Y Y ECO:0000006 PubMed:11448662 PENTACON From review: PubMed:20059330 AAP, DGA 4/21/2014 3 3300009525 Faith P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity Studies of renal COX physiology have established that inhibition of COX-2 plays the major role in the blood pressure increase observed in patients on NSAIDS negative regulation of blood pressure GO:0045776 kidney BTO:0000671 Y Y ECO:0000033 PubMed:20059330 PENTACON AAP, DGA 4/21/2014 3 3300009526 Faith P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity Studies of renal COX physiology have established that inhibition of COX-2 plays the major role in the blood pressure increase observed in patients on NSAIDS negative regulation of blood pressure GO:0045776 kidney UBERON:0002113 Y Y ECO:0000033 PubMed:20059330 PENTACON AAP, DGA 4/21/2014 3 3300009527 Faith P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity Polymorphisms in COX-2, PGI synthase, and the IP have variously been associated with hypertension and adverse cardiovascular outcome after angioplasty positive regulation of blood pressure GO:0045777 vasculature BTO:0003718 Angioplasty of blood vessel SNOMEDCT:418285008 Y Y ECO:0000033 PubMed:20059330 PENTACON AAP, DGA 4/21/2014 3 3300009528 Faith P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity Polymorphisms in COX-2, PGI synthase, and the IP have variously been associated with hypertension and adverse cardiovascular outcome after angioplasty positive regulation of blood pressure GO:0045777 vasculature UBERON:0002049 Angioplasty of blood vessel SNOMEDCT:418285008 Y Y ECO:0000033 PubMed:20059330 PENTACON AAP, DGA 4/21/2014 3 3300009529 Faith Q16647 5740 PTGIS Homo sapiens 9606 Comment/tissue specificity Polymorphisms in COX-2, PGI synthase, and the IP have variously been associated with hypertension and adverse cardiovascular outcome after angioplasty positive regulation of blood pressure GO:0045777 vasculature BTO:0003718 Angioplasty of blood vessel SNOMEDCT:418285008 Y Y ECO:0000033 PubMed:20059330 PENTACON AAP, DGA 4/21/2014 3 3300009530 Faith Q16647 5740 PTGIS Homo sapiens 9606 Comment/tissue specificity Polymorphisms in COX-2, PGI synthase, and the IP have variously been associated with hypertension and adverse cardiovascular outcome after angioplasty positive regulation of blood pressure GO:0045777 vasculature UBERON:0002049 Angioplasty of blood vessel SNOMEDCT:418285008 Y Y ECO:0000033 PubMed:20059330 PENTACON AAP, DGA 4/21/2014 3 3300009531 Faith P43119 5739 PTGIR Homo sapiens 9606 Comment/tissue specificity Polymorphisms in COX-2, PGI synthase, and the IP have variously been associated with hypertension and adverse cardiovascular outcome after angioplasty positive regulation of blood pressure GO:0045777 vasculature BTO:0003718 Angioplasty of blood vessel SNOMEDCT:418285008 Y Y ECO:0000033 PubMed:20059330 PENTACON AAP 4/21/2014 3 3300009532 Faith P43119 5739 PTGIR Homo sapiens 9606 Comment/tissue specificity Polymorphisms in COX-2, PGI synthase, and the IP have variously been associated with hypertension and adverse cardiovascular outcome after angioplasty positive regulation of blood pressure GO:0045777 vasculature UBERON:0002049 Angioplasty of blood vessel SNOMEDCT:418285008 Y Y ECO:0000033 PubMed:20059330 PENTACON AAP 4/21/2014 3 3300009533 Faith P43119 5739 PTGIR Homo sapiens 9606 Comment/tissue specificity Prostacyclin receptor variant (R212C) is defective in adenylyl cyclase activation in both patient blood and in an in vitro COS-1 overexpression system. This promotes increased platelet aggregation, a hallmark of atherothrombosis. Our analysis of patients in 3 separate white cohorts reveals that this dysfunctional receptor is not likely an initiating factor in cardiovascular disease but that it accelerates the course of disease in those patients with the greatest risk factors. activation of adenylate cyclase activity GO:0007190 blood BTO:0000089 Y Y ECO:0000006 PubMed:18323528 PENTACON From review: PubMed:20059330 AAP 4/21/2014 3 3300009534 Faith P43119 5739 PTGIR Homo sapiens 9606 Comment/tissue specificity Prostacyclin receptor variant (R212C) is defective in adenylyl cyclase activation in both patient blood and in an in vitro COS-1 overexpression system. This promotes increased platelet aggregation, a hallmark of atherothrombosis. Our analysis of patients in 3 separate white cohorts reveals that this dysfunctional receptor is not likely an initiating factor in cardiovascular disease but that it accelerates the course of disease in those patients with the greatest risk factors. activation of adenylate cyclase activity GO:0007190 blood UBERON:0000178 Y Y ECO:0000006 PubMed:18323528 PENTACON From review: PubMed:20059330 AAP 4/21/2014 3 3300009535 Faith P43119 5739 PTGIR Homo sapiens 9606 Comment/tissue specificity Prostacyclin receptor variant (R212C) is defective in adenylyl cyclase activation in both patient blood and in an in vitro COS-1 overexpression system. This promotes increased platelet aggregation, a hallmark of atherothrombosis. Our analysis of patients in 3 separate white cohorts reveals that this dysfunctional receptor is not likely an initiating factor in cardiovascular disease but that it accelerates the course of disease in those patients with the greatest risk factors. negative regulation of platelet aggregation GO:0090331 blood BTO:0000089 Y Y ECO:0000006 PubMed:18323528 PENTACON From review: PubMed:20059330 AAP 4/21/2014 3 3300009536 Faith P43119 5739 PTGIR Homo sapiens 9606 Comment/tissue specificity Prostacyclin receptor variant (R212C) is defective in adenylyl cyclase activation in both patient blood and in an in vitro COS-1 overexpression system. This promotes increased platelet aggregation, a hallmark of atherothrombosis. Our analysis of patients in 3 separate white cohorts reveals that this dysfunctional receptor is not likely an initiating factor in cardiovascular disease but that it accelerates the course of disease in those patients with the greatest risk factors. negative regulation of platelet aggregation GO:0090331 blood UBERON:0000178 Y Y ECO:0000006 PubMed:18323528 PENTACON From review: PubMed:20059330 AAP 4/21/2014 3 3300009537 Faith P35354 5743 PTGS2 Homo sapiens 9606 Comment/Involvement in disease In a meta-analysis of published and unpublished data from randomised trials, allocation to a selective COX-2 inhibitor (in placebo comparison) was associated with a 42% relative increase in the incidence of serious vascular events, with no significant heterogeneity among the different selective COX-2 inhibitors. This was chiefly attributable to an increased risk of mycardial infarction. myocardial infarction DOID:5844 cyclooxygenase 2 inhibitor CHEBI:50629 Y Y ECO:0000006 PubMed:16740558 PENTACON From review: PubMed:20059330 AAP, DGA 4/21/2014 3 3300009538 Faith P35354 5743 PTGS2 Homo sapiens 9606 Comment/Involvement in disease In a meta-analysis of published and unpublished data from randomised trials, allocation to a selective COX-2 inhibitor (in placebo comparison) was associated with a 42% relative increase in the incidence of serious vascular events, with no significant heterogeneity among the different selective COX-2 inhibitors. This was chiefly attributable to an increased risk of mycardial infarction. Myocardial infarction SNOMEDCT:22298006 cyclooxygenase 2 inhibitor CHEBI:50629 Y Y ECO:0000006 PubMed:16740558 PENTACON From review: PubMed:20059330 AAP, DGA 4/21/2014 3 3300009539 Jenn/Faith P23219 5742 PTGS1 Homo sapiens 9606 Comment/tissue specificity Immunohistochemistry of bone marrow sections showed that megakaryocytes express COX-1 (Fig. ​(Fig.1),1), which is consistent with the current notion that platelets express only COX-1. Quite unexpectedly, megakaryocytes stained positively also for COX-2 (Fig. ​(Fig.1),1), indicating that both COX isoforms are present in human megakaryocytes. megakaryocyte BTO:0000843 megakaryocyte CL:0000556 Y Y ECO:0000033 Pubmed:19095631 PENTACON AAP, DGA 4/21/2014 3 3300009540 Jenn/Faith P23219 5742 PTGS1 Homo sapiens 9606 Comment/tissue specificity Immunohistochemistry of bone marrow sections showed that megakaryocytes express COX-1 (Fig. ​(Fig.1),1), which is consistent with the current notion that platelets express only COX-1. Quite unexpectedly, megakaryocytes stained positively also for COX-2 (Fig. ​(Fig.1),1), indicating that both COX isoforms are present in human megakaryocytes. bone marrow UBERON:0002371 megakaryocyte CL:0000556 Y Y ECO:0000033 Pubmed:19095631 PENTACON AAP, DGA 4/21/2014 3 3300009541 Jenn/Faith P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity Immunohistochemistry of bone marrow sections showed that megakaryocytes express COX-1 (Fig. ​(Fig.1),1), which is consistent with the current notion that platelets express only COX-1. Quite unexpectedly, megakaryocytes stained positively also for COX-2 (Fig. ​(Fig.1),1), indicating that both COX isoforms are present in human megakaryocytes. megakaryocyte BTO:0000843 megakaryocyte CL:0000556 Y Y ECO:0000033 Pubmed:19095631 PENTACON AAP, DGA 4/21/2014 3 3300009542 Jenn/Faith P35354 5743 PTGS2 Homo sapiens 9606 Comment/tissue specificity Immunohistochemistry of bone marrow sections showed that megakaryocytes express COX-1 (Fig. ​(Fig.1),1), which is consistent with the current notion that platelets express only COX-1. Quite unexpectedly, megakaryocytes stained positively also for COX-2 (Fig. ​(Fig.1),1), indicating that both COX isoforms are present in human megakaryocytes. bone marrow UBERON:0002371 megakaryocyte CL:0000556 Y Y ECO:0000033 Pubmed:19095631 PENTACON AAP, DGA 4/21/2014 3 3300009543