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 Jenn/Faith P12821 1636 ACE Homo sapiens 9606 Comment/tissue specificity ACE in the endothelium and smooth muscle cells produces Ang II which increases vascular tone and bradykinin which decreases vascular tone negative regulation of vasoconstriction GO:0045906 vascular endothelial cell BTO:0001854 blood vessel endothelial cell CL:0000071 Y Y ECO:0000033 Pubmed:16395396 PENTACON BP, DGA, AAE 4/21/2014 3 3300009295 Jenn/Faith P12821 1636 ACE Homo sapiens 9606 Comment/tissue specificity ACE in the endothelium and smooth muscle cells produces Ang II which increases vascular tone and bradykinin which decreases vascular tone negative regulation of vasoconstriction GO:0045906 blood vessel endothelium UBERON:0004638 blood vessel endothelial cell CL:0000071 Y Y ECO:0000033 Pubmed:16395396 PENTACON BP, DGA, AAE 4/21/2014 3 3300009296 Jenn/Faith P12821 1636 ACE Homo sapiens 9606 Comment/tissue specificity ACE in the endothelium and smooth muscle cells produces Ang II which increases vascular tone and bradykinin which decreases vascular tone positive regulation of vasoconstriction GO:0045907 vascular endothelial cell BTO:0001854 blood vessel endothelial cell CL:0000071 Y Y ECO:0000033 Pubmed:16395396 PENTACON BP, DGA, AAE 4/21/2014 3 3300009297 Jenn/Faith P12821 1636 ACE Homo sapiens 9606 Comment/tissue specificity ACE in the endothelium and smooth muscle cells produces Ang II which increases vascular tone and bradykinin which decreases vascular tone positive regulation of vasoconstriction GO:0045907 blood vessel endothelium UBERON:0004638 blood vessel endothelial cell CL:0000071 Y Y ECO:0000033 Pubmed:16395396 PENTACON BP, DGA, AAE 4/21/2014 3 3300009298 Jenn/Faith P12821 1636 ACE Homo sapiens 9606 Comment/tissue specificity ACE in the endothelium and smooth muscle cells produces Ang II which increases vascular tone and bradykinin which decreases vascular tone 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 BP, DGA, AAE 4/21/2014 3 3300009299 Jenn/Faith P12821 1636 ACE Homo sapiens 9606 Comment/tissue specificity ACE in the endothelium and smooth muscle cells produces Ang II which increases vascular tone and bradykinin which decreases vascular tone 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 BP, DGA, AAE 4/21/2014 3 3300009300 Jenn/Faith P12821 1636 ACE Homo sapiens 9606 Comment/tissue specificity ACE in the endothelium and smooth muscle cells produces Ang II which increases vascular tone and bradykinin which decreases vascular tone positive regulation of vasoconstriction GO:0045907 vascular smooth muscle cell BTO:0004578 vascular associated smooth muscle cell CL:0000359 Y Y ECO:0000033 Pubmed:16395396 PENTACON BP, DGA, AAE 4/21/2014 3 3300009301 Jenn/Faith P12821 1636 ACE Homo sapiens 9606 Comment/tissue specificity ACE in the endothelium and smooth muscle cells produces Ang II which increases vascular tone and bradykinin which decreases vascular tone positive regulation of vasoconstriction GO:0045907 blood vessel smooth muscle UBERON:0004237 vascular associated smooth muscle cell CL:0000359 Y Y ECO:0000033 Pubmed:16395396 PENTACON BP, DGA, AAE 4/21/2014 3 3300009302 Jenn P05305 1906 EDN1 Homo sapiens 9606 Comment/tissue specificity Endothelins can act to increase vascular tone positive regulation of vasoconstriction GO:0045907 vascular system BTO:0001085 Y Y ECO:0000033 Pubmed:16395396 PENTACON BP, DGA, AAE 4/21/2014 3 3300009400 Jenn P05305 1906 EDN1 Homo sapiens 9606 Comment/tissue specificity Endothelins can act to increase vascular tone positive regulation of vasoconstriction GO:0045907 vasculature UBERON:0002049 Y Y ECO:0000033 Pubmed:16395396 PENTACON BP, DGA, AAE 4/21/2014 3 3300009401 Jenn P20800 1907 EDN2 Homo sapiens 9606 Comment/tissue specificity Endothelins can act to increase vascular tone positive regulation of vasoconstriction GO:0045907 vascular system BTO:0001085 Y Y ECO:0000033 Pubmed:16395396 PENTACON BP, AAE 4/21/2014 3 3300009402 Jenn P20800 1907 EDN2 Homo sapiens 9606 Comment/tissue specificity Endothelins can act to increase vascular tone positive regulation of vasoconstriction GO:0045907 vasculature UBERON:0002049 Y Y ECO:0000033 Pubmed:16395396 PENTACON BP, AAE 4/21/2014 3 3300009403 Faith P12821 1636 ACE Homo sapiens 9606 Comment/tissue specificity P22966-1;Isoform Testis-specific;ACE-T;Position 1-574:Missing;In isoform Testis-specific. testis BTO:0001363 VSP_035120 Y Y ECO:0000006 PubMed:10969042 PubMed:10924499 PubMed:12459472 PubMed:15671045 UniProtKB #ORIGINAL data type: Feature/splice variant BP, DGA, AAE 4/3/2013 172 3300010361 Faith P12821 1636 ACE Homo sapiens 9606 Comment/tissue specificity P22966-1;Isoform Testis-specific;ACE-T;Position 1-574:Missing;In isoform Testis-specific. testis UBERON:0000473 VSP_035120 Y Y ECO:0000006 PubMed:10969042 PubMed:10924499 PubMed:12459472 PubMed:15671045 UniProtKB #ORIGINAL data type: Feature/splice variant BP, DGA, AAE 4/3/2013 172 3300010363 Faith P12821 1636 ACE Homo sapiens 9606 Comment/tissue specificity P22966-1;Isoform Testis-specific;ACE-T;Position 1-574:Missing;In isoform Testis-specific. spermatocyte BTO:0001275 VSP_035120 Y Y ECO:0000006 PubMed:10969042 PubMed:10924499 PubMed:12459472 PubMed:15671045 UniProtKB #ORIGINAL data type: Feature/splice variant BP, DGA, AAE 4/3/2013 172 3300010365 Faith P12821 1636 ACE Homo sapiens 9606 Comment/tissue specificity P22966-1;Isoform Testis-specific;ACE-T;Position 575-641:AGSSRPWQEVLKDMVGLDALDAQPLLKYFQPVTQWLQEQNQQNGEVLGWPEYQWHPPLPDNYPEGID->MGQGWATAGLPSLLFLLLCYGHPLLVPSQEASQQVTVTHGTSSQATTSSQTTTHQATAHQTSAQSPN;In isoform Testis-specific. testis BTO:0001363 VSP_035121 Y Y ECO:0000006 PubMed:10969042 PubMed:10924499 PubMed:12459472 PubMed:15671045 UniProtKB #ORIGINAL data type: Feature/splice variant BP, DGA, AAE 4/3/2013 172 3300010367 Faith P12821 1636 ACE Homo sapiens 9606 Comment/tissue specificity P22966-1;Isoform Testis-specific;ACE-T;Position 575-641:AGSSRPWQEVLKDMVGLDALDAQPLLKYFQPVTQWLQEQNQQNGEVLGWPEYQWHPPLPDNYPEGID->MGQGWATAGLPSLLFLLLCYGHPLLVPSQEASQQVTVTHGTSSQATTSSQTTTHQATAHQTSAQSPN;In isoform Testis-specific. testis UBERON:0000473 VSP_035121 Y Y ECO:0000006 PubMed:10969042 PubMed:10924499 PubMed:12459472 PubMed:15671045 UniProtKB #ORIGINAL data type: Feature/splice variant BP, DGA, AAE 4/3/2013 172 3300010369 Faith P12821 1636 ACE Homo sapiens 9606 Comment/tissue specificity P22966-1;Isoform Testis-specific;ACE-T;Position 575-641:AGSSRPWQEVLKDMVGLDALDAQPLLKYFQPVTQWLQEQNQQNGEVLGWPEYQWHPPLPDNYPEGID->MGQGWATAGLPSLLFLLLCYGHPLLVPSQEASQQVTVTHGTSSQATTSSQTTTHQATAHQTSAQSPN;In isoform Testis-specific. spermatocyte BTO:0001275 VSP_035121 Y Y ECO:0000006 PubMed:10969042 PubMed:10924499 PubMed:12459472 PubMed:15671045 UniProtKB #ORIGINAL data type: Feature/splice variant BP, DGA, AAE 4/3/2013 172 3300010371 Faith P16435 5447 POR Homo sapiens 9606 Comment/miscellaneous Y178D; In DISPORD; complete loss of activity. MIM:613571 VAR_021154 Y Y ECO:0000006 PubMed:15220035 UniProtKB #ORIGINAL data type: Feature/sequence variant AAE 5/29/2013 160 3300010454 Faith P16435 5447 POR Homo sapiens 9606 Comment/Involvement in disease A284P; In ABS1 and DISPORD; significant reduction of activity. MIM:201750 Antley-Bixler syndrome DOID:0050462 VAR_021155 Y Y ECO:0000006 PubMed:14758361 PubMed:15220035 UniProtKB #ORIGINAL data type: Feature/sequence variant AAE 5/29/2013 160 3300010458 Faith P16435 5447 POR Homo sapiens 9606 Comment/Involvement in disease A284P; In ABS1 and DISPORD; significant reduction of activity. MIM:201750 Antley-Bixler syndrome SNOMEDCT:62964007 VAR_021155 Y Y ECO:0000006 PubMed:14758361 PubMed:15220035 UniProtKB #ORIGINAL data type: Feature/sequence variant AAE 5/29/2013 160 3300010460 Faith P16435 5447 POR Homo sapiens 9606 Comment/miscellaneous A284P; In ABS1 and DISPORD; significant reduction of activity. MIM:613571 VAR_021155 Y Y ECO:0000006 PubMed:14758361 PubMed:15220035 UniProtKB #ORIGINAL data type: Feature/sequence variant AAE 5/29/2013 160 3300010462 Faith P16435 5447 POR Homo sapiens 9606 Comment/Involvement in disease R454H; In ABS1 and DISPORD; significant reduction of activity. MIM:201750 Antley-Bixler syndrome DOID:0050462 VAR_021156 Y Y ECO:0000006 PubMed:15264278 PubMed:15483095 PubMed:14758361 PubMed:15220035 UniProtKB #ORIGINAL data type: Feature/sequence variant AAE 5/29/2013 160 3300010464 Faith P16435 5447 POR Homo sapiens 9606 Comment/Involvement in disease R454H; In ABS1 and DISPORD; significant reduction of activity. MIM:201750 Antley-Bixler syndrome SNOMEDCT:62964007 VAR_021156 Y Y ECO:0000006 PubMed:15264278 PubMed:15483095 PubMed:14758361 PubMed:15220035 UniProtKB #ORIGINAL data type: Feature/sequence variant AAE 5/29/2013 160 3300010466 Faith P16435 5447 POR Homo sapiens 9606 Comment/miscellaneous R454H; In ABS1 and DISPORD; significant reduction of activity. MIM:613571 VAR_021156 Y Y ECO:0000006 PubMed:15264278 PubMed:15483095 PubMed:14758361 PubMed:15220035 UniProtKB #ORIGINAL data type: Feature/sequence variant AAE 5/29/2013 160 3300010468 Faith P16435 5447 POR Homo sapiens 9606 Comment/Involvement in disease V489E; In ABS1; significant reduction of activity. MIM:201750 Antley-Bixler syndrome DOID:0050462 VAR_021157 Y Y ECO:0000006 PubMed:14758361 UniProtKB #ORIGINAL data type: Feature/sequence variant AAE 5/29/2013 160 3300010470 Faith P16435 5447 POR Homo sapiens 9606 Comment/Involvement in disease V489E; In ABS1; significant reduction of activity. MIM:201750 Antley-Bixler syndrome SNOMEDCT:62964007 VAR_021157 Y Y ECO:0000006 PubMed:14758361 UniProtKB #ORIGINAL data type: Feature/sequence variant AAE 5/29/2013 160 3300010472 Faith P16435 5447 POR Homo sapiens 9606 Comment/miscellaneous C566Y; In DISPORD; significant reduction of activity. MIM:613571 VAR_021158 Y Y ECO:0000006 PubMed:14758361 PubMed:15220035 UniProtKB #ORIGINAL data type: Feature/sequence variant AAE 5/29/2013 160 3300010475 Faith P16435 5447 POR Homo sapiens 9606 Comment/Involvement in disease Y575C; In ABS1. MIM:201750 Antley-Bixler syndrome DOID:0050462 VAR_021159 Y Y ECO:0000006 PubMed:15483095 UniProtKB #ORIGINAL data type: Feature/sequence variant AAE 5/29/2013 160 3300010477 Faith P16435 5447 POR Homo sapiens 9606 Comment/Involvement in disease Y575C; In ABS1. MIM:201750 Antley-Bixler syndrome SNOMEDCT:62964007 VAR_021159 Y Y ECO:0000006 PubMed:15483095 UniProtKB #ORIGINAL data type: Feature/sequence variant AAE 5/29/2013 160 3300010479 Faith P16435 5447 POR Homo sapiens 9606 Comment/miscellaneous V605F; In DISPORD; significant reduction of activity. MIM:613571 VAR_021160 Y Y ECO:0000006 PubMed:14758361 UniProtKB #ORIGINAL data type: Feature/sequence variant AAE 5/29/2013 160 3300010481 Faith P16435 5447 POR Homo sapiens 9606 Comment/Involvement in disease LKQDREHLW609-617R; In ABS1. MIM:201750 Antley-Bixler syndrome DOID:0050462 VAR_021161 Y Y UniProtKB #ORIGINAL data type: Feature/sequence variant AAE 5/29/2013 160 3300010483 Faith P16435 5447 POR Homo sapiens 9606 Comment/Involvement in disease LKQDREHLW609-617R; In ABS1. MIM:201750 Antley-Bixler syndrome SNOMEDCT:62964007 VAR_021161 Y Y UniProtKB #ORIGINAL data type: Feature/sequence variant AAE 5/29/2013 160 3300010485 Faith P50052 186 AGTR2 Homo sapiens 9606 Comment/Involvement in disease G21V; In MRX88. MIM:300852 Mental retardation SNOMEDCT:91138005 VAR_065946 Y Y ECO:0000006 PubMed:12089445 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA, AAE 4/3/2013 119 3300011086 Faith P50052 186 AGTR2 Homo sapiens 9606 Comment/Involvement in disease R324Q; In MRX88. MIM:300852 Mental retardation SNOMEDCT:91138005 VAR_065947 Y Y ECO:0000006 PubMed:12089445 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA, AAE 4/3/2013 119 3300011088 Faith P50052 186 AGTR2 Homo sapiens 9606 Comment/Involvement in disease I337V; In MRX88. MIM:300852 Mental retardation SNOMEDCT:91138005 VAR_065948 Y Y ECO:0000006 PubMed:12089445 UniProtKB #ORIGINAL data type: Feature/sequence variant BP, DGA, AAE 4/3/2013 119 3300011090 Faith P12821 1636 ACE Homo sapiens 9606 Comment/tissue specificity Ubiquitously expressed, with highest levels in lung, kidney, heart, gastrointestinal system and prostate. Isoform Testis-specific is expressed in spermatocytes and adult testis. alimentary canal BTO:0000058 Y Y ECO:0000006 PubMed:10969042 PubMed:10924499 PubMed:12459472 PubMed:15671045 UniProtKB BP, DGA, AAE 4/3/2013 172 3300011474 Faith P12821 1636 ACE Homo sapiens 9606 Comment/tissue specificity Ubiquitously expressed, with highest levels in lung, kidney, heart, gastrointestinal system and prostate. Isoform Testis-specific is expressed in spermatocytes and adult testis. gastrointestinal system UBERON:0005409 Y Y ECO:0000006 PubMed:10969042 PubMed:10924499 PubMed:12459472 PubMed:15671045 UniProtKB BP, DGA, AAE 4/3/2013 172 3300011475 Faith P12821 1636 ACE Homo sapiens 9606 Comment/tissue specificity Ubiquitously expressed, with highest levels in lung, kidney, heart, gastrointestinal system and prostate. Isoform Testis-specific is expressed in spermatocytes and adult testis. heart BTO:0000562 Y Y ECO:0000006 PubMed:10969042 PubMed:10924499 PubMed:12459472 PubMed:15671045 UniProtKB BP, DGA, AAE 4/3/2013 172 3300011476 Faith P12821 1636 ACE Homo sapiens 9606 Comment/tissue specificity Ubiquitously expressed, with highest levels in lung, kidney, heart, gastrointestinal system and prostate. Isoform Testis-specific is expressed in spermatocytes and adult testis. heart UBERON:0000948 Y Y ECO:0000006 PubMed:10969042 PubMed:10924499 PubMed:12459472 PubMed:15671045 UniProtKB BP, DGA, AAE 4/3/2013 172 3300011477 Faith P12821 1636 ACE Homo sapiens 9606 Comment/tissue specificity Ubiquitously expressed, with highest levels in lung, kidney, heart, gastrointestinal system and prostate. Isoform Testis-specific is expressed in spermatocytes and adult testis. kidney BTO:0000671 Y Y ECO:0000006 PubMed:10969042 PubMed:10924499 PubMed:12459472 PubMed:15671045 UniProtKB BP, DGA, AAE 4/3/2013 172 3300011478 Faith P12821 1636 ACE Homo sapiens 9606 Comment/tissue specificity Ubiquitously expressed, with highest levels in lung, kidney, heart, gastrointestinal system and prostate. Isoform Testis-specific is expressed in spermatocytes and adult testis. kidney UBERON:0002113 Y Y ECO:0000006 PubMed:10969042 PubMed:10924499 PubMed:12459472 PubMed:15671045 UniProtKB BP, DGA, AAE 4/3/2013 172 3300011479 Faith P12821 1636 ACE Homo sapiens 9606 Comment/tissue specificity Ubiquitously expressed, with highest levels in lung, kidney, heart, gastrointestinal system and prostate. Isoform Testis-specific is expressed in spermatocytes and adult testis. lung BTO:0000763 Y Y ECO:0000006 PubMed:10969042 PubMed:10924499 PubMed:12459472 PubMed:15671045 UniProtKB BP, DGA, AAE 4/3/2013 172 3300011480 Faith P12821 1636 ACE Homo sapiens 9606 Comment/tissue specificity Ubiquitously expressed, with highest levels in lung, kidney, heart, gastrointestinal system and prostate. Isoform Testis-specific is expressed in spermatocytes and adult testis. lung UBERON:0002048 Y Y ECO:0000006 PubMed:10969042 PubMed:10924499 PubMed:12459472 PubMed:15671045 UniProtKB BP, DGA, AAE 4/3/2013 172 3300011481 Faith P12821 1636 ACE Homo sapiens 9606 Comment/tissue specificity Ubiquitously expressed, with highest levels in lung, kidney, heart, gastrointestinal system and prostate. Isoform Testis-specific is expressed in spermatocytes and adult testis. prostate gland BTO:0001129 Y Y ECO:0000006 PubMed:10969042 PubMed:10924499 PubMed:12459472 PubMed:15671045 UniProtKB BP, DGA, AAE 4/3/2013 172 3300011482 Faith P12821 1636 ACE Homo sapiens 9606 Comment/tissue specificity Ubiquitously expressed, with highest levels in lung, kidney, heart, gastrointestinal system and prostate. Isoform Testis-specific is expressed in spermatocytes and adult testis. prostate gland UBERON:0002367 Y Y ECO:0000006 PubMed:10969042 PubMed:10924499 PubMed:12459472 PubMed:15671045 UniProtKB BP, DGA, AAE 4/3/2013 172 3300011483 Katie P12821 1636 ACE Homo sapiens 9606 EC 3.4.15.1 Y Y EC number UniProtKB BP, DGA, AAE 4/3/2013 172 3300011484 Faith P12821 1636 ACE 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 Y Y ECO:0000006 PubMed:15534175 UniProtKB Disease susceptibility is associated with variations affecting the gene represented in this entry. BP, DGA, AAE 5/29/2013 174 3300011490 Faith P12821 1636 ACE Homo sapiens 9606 Comment/Involvement in disease Renal tubular dysgenesis (RTD) [MIM:267430]: Autosomal recessive severe disorder of renal tubular development characterized by persistent fetal anuria and perinatal death, probably due to pulmonary hypoplasia from early-onset oligohydramnios (the Potter phenotype). Note=The disease is caused by mutations affecting the gene represented in this entry. MIM:267430 Y Y ECO:0000006 PubMed:16116425 UniProtKB The disease is caused by mutations affecting the gene represented in this entry. BP, DGA, AAE 5/29/2013 174 3300011491 Faith P12821 1636 ACE Homo sapiens 9606 Comment/Involvement in disease Microvascular complications of diabetes 3 (MVCD3) [MIM:612624]: Pathological conditions that develop in numerous tissues and organs as a consequence of diabetes mellitus. They include diabetic retinopathy, diabetic nephropathy leading to end-stage renal disease, and diabetic neuropathy. Diabetic retinopathy remains the major cause of new-onset blindness among diabetic adults. It is characterized by vascular permeability and increased tissue ischemia and angiogenesis. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. MIM:612624 Multiple complications due to diabetes mellitus SNOMEDCT:441628001 Y Y UniProtKB BP, DGA, AAE 5/29/2013 174 3300011492 Faith P12821 1636 ACE Homo sapiens 9606 Comment/Involvement in disease Intracerebral hemorrhage (ICH) [MIM:614519]: A pathological condition characterized by bleeding into one or both cerebral hemispheres including the basal ganglia and the cerebral cortex. It is often associated with hypertension and craniocerebral trauma. Intracerebral bleeding is a common cause of stroke. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. MIM:614519 Intracerebral hemorrhage SNOMEDCT:1508000 Y Y ECO:0000006 PubMed:15277638 UniProtKB BP, DGA, AAE 5/29/2013 174 3300011493 Faith P50052 186 AGTR2 Homo sapiens 9606 Comment/tissue specificity In adult, highly expressed in myometrium with lower levels in adrenal gland and fallopian tube. Expressed in the cerebellum. Very highly expressed in fetal kidney and intestine. adrenal gland BTO:0000047 Y Y ECO:0000006 PubMed:12089445 UniProtKB BP, DGA, AAE 4/3/2013 119 3300011562 Faith P50052 186 AGTR2 Homo sapiens 9606 Comment/tissue specificity In adult, highly expressed in myometrium with lower levels in adrenal gland and fallopian tube. Expressed in the cerebellum. Very highly expressed in fetal kidney and intestine. adrenal gland UBERON:0002369 Y Y ECO:0000006 PubMed:12089445 UniProtKB BP, DGA, AAE 4/3/2013 119 3300011563 Faith P50052 186 AGTR2 Homo sapiens 9606 Comment/tissue specificity In adult, highly expressed in myometrium with lower levels in adrenal gland and fallopian tube. Expressed in the cerebellum. Very highly expressed in fetal kidney and intestine. cerebellum BTO:0000232 Y Y ECO:0000006 PubMed:12089445 UniProtKB BP, DGA, AAE 4/3/2013 119 3300011564 Faith P50052 186 AGTR2 Homo sapiens 9606 Comment/tissue specificity In adult, highly expressed in myometrium with lower levels in adrenal gland and fallopian tube. Expressed in the cerebellum. Very highly expressed in fetal kidney and intestine. cerebellum UBERON:0002037 Y Y ECO:0000006 PubMed:12089445 UniProtKB BP, DGA, AAE 4/3/2013 119 3300011565 Faith P50052 186 AGTR2 Homo sapiens 9606 Comment/tissue specificity In adult, highly expressed in myometrium with lower levels in adrenal gland and fallopian tube. Expressed in the cerebellum. Very highly expressed in fetal kidney and intestine. intestine BTO:0000648 fetus BTO:0000449 Y Y ECO:0000006 PubMed:12089445 UniProtKB BP, DGA, AAE 4/3/2013 119 3300011566 Faith P50052 186 AGTR2 Homo sapiens 9606 Comment/tissue specificity In adult, highly expressed in myometrium with lower levels in adrenal gland and fallopian tube. Expressed in the cerebellum. Very highly expressed in fetal kidney and intestine. intestine UBERON:0000160 fetus BTO:0000449 Y Y ECO:0000006 PubMed:12089445 UniProtKB BP, DGA, AAE 4/3/2013 119 3300011567 Faith P50052 186 AGTR2 Homo sapiens 9606 Comment/tissue specificity In adult, highly expressed in myometrium with lower levels in adrenal gland and fallopian tube. Expressed in the cerebellum. Very highly expressed in fetal kidney and intestine. kidney BTO:0000671 fetus BTO:0000449 Y Y ECO:0000006 PubMed:12089445 UniProtKB BP, DGA, AAE 4/3/2013 119 3300011568 Faith P50052 186 AGTR2 Homo sapiens 9606 Comment/tissue specificity In adult, highly expressed in myometrium with lower levels in adrenal gland and fallopian tube. Expressed in the cerebellum. Very highly expressed in fetal kidney and intestine. kidney UBERON:0002113 fetus BTO:0000449 Y Y ECO:0000006 PubMed:12089445 UniProtKB BP, DGA, AAE 4/3/2013 119 3300011569 Faith P50052 186 AGTR2 Homo sapiens 9606 Comment/tissue specificity In adult, highly expressed in myometrium with lower levels in adrenal gland and fallopian tube. Expressed in the cerebellum. Very highly expressed in fetal kidney and intestine. myometrium BTO:0000907 Y Y ECO:0000006 PubMed:12089445 UniProtKB BP, DGA, AAE 4/3/2013 119 3300011570 Faith P50052 186 AGTR2 Homo sapiens 9606 Comment/tissue specificity In adult, highly expressed in myometrium with lower levels in adrenal gland and fallopian tube. Expressed in the cerebellum. Very highly expressed in fetal kidney and intestine. myometrium UBERON:0001296 Y Y ECO:0000006 PubMed:12089445 UniProtKB BP, DGA, AAE 4/3/2013 119 3300011571 Faith P50052 186 AGTR2 Homo sapiens 9606 Comment/tissue specificity In adult, highly expressed in myometrium with lower levels in adrenal gland and fallopian tube. Expressed in the cerebellum. Very highly expressed in fetal kidney and intestine. oviduct BTO:0000980 Y Y ECO:0000006 PubMed:12089445 UniProtKB BP, DGA, AAE 4/3/2013 119 3300011572 Faith P50052 186 AGTR2 Homo sapiens 9606 Comment/tissue specificity In adult, highly expressed in myometrium with lower levels in adrenal gland and fallopian tube. Expressed in the cerebellum. Very highly expressed in fetal kidney and intestine. fallopian tube UBERON:0003889 Y Y ECO:0000006 PubMed:12089445 UniProtKB BP, DGA, AAE 4/3/2013 119 3300011573 Faith P50052 186 AGTR2 Homo sapiens 9606 Comment/subcellular location Cell membrane;Multi-pass membrane protein plasma membrane GO:0005886 SL-0039 Y Y UniProtKB BP, DGA, AAE 4/3/2013 119 3300011575 Faith P50052 186 AGTR2 Homo sapiens 9606 Comment/Involvement in disease Mental retardation, X-linked 88 (MRX88) [MIM:300852]: 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:300852 Mental retardation SNOMEDCT:91138005 The disease is caused by mutations affecting the gene represented in this entry. Y Y ECO:0000006 PubMed:12089445 UniProtKB Snomed did not have a more specific applicable term. BP, DGA, AAE 5/29/2013 121 3300011576 Faith P05305 1906 EDN1 Homo sapiens 9606 Comment/tissue specificity Expressed in lung, placental stem villi vessels and in cultured placental vascular smooth muscle cells. vascular smooth muscle cell BTO:0004578 placenta BTO:0001078 vascular associated smooth muscle cell CL:0000359 Y Y ECO:0000006 PubMed:9284755 UniProtKB BP, DGA, AAE 4/3/2013 151 3300011864 Faith P05305 1906 EDN1 Homo sapiens 9606 Comment/tissue specificity Expressed in lung, placental stem villi vessels and in cultured placental vascular smooth muscle cells. lung BTO:0000763 Y Y ECO:0000006 PubMed:9284755 UniProtKB BP, DGA, AAE 4/3/2013 151 3300011865 Faith P05305 1906 EDN1 Homo sapiens 9606 Comment/tissue specificity Expressed in lung, placental stem villi vessels and in cultured placental vascular smooth muscle cells. lung UBERON:0002048 Y Y ECO:0000006 PubMed:9284755 UniProtKB BP, DGA, AAE 4/3/2013 151 3300011866 Faith P05305 1906 EDN1 Homo sapiens 9606 Comment/tissue specificity Expressed in lung, placental stem villi vessels and in cultured placental vascular smooth muscle cells. vasculature BTO:0003718 placenta BTO:0001078 Y Y ECO:0000006 PubMed:9284755 UniProtKB BP, DGA, AAE 4/3/2013 151 3300011867 Faith P05305 1906 EDN1 Homo sapiens 9606 Comment/tissue specificity Expressed in lung, placental stem villi vessels and in cultured placental vascular smooth muscle cells. blood vasculature UBERON:0004537 placenta BTO:0001078 Y Y ECO:0000006 PubMed:9284755 UniProtKB BP, DGA, AAE 4/3/2013 151 3300011868 Faith P05305 1906 EDN1 Homo sapiens 9606 Comment/subcellular location Secreted extracellular region GO:0005576 SL-0243 Y Y UniProtKB BP, DGA, AAE 4/3/2013 151 3300011870 Faith P20800 1907 EDN2 Homo sapiens 9606 Comment/tissue specificity Expressed in lung, but not in placental stem villi vessels or cultured placental villi smooth muscle cells. lung BTO:0000763 Y Y ECO:0000006 PubMed:9284755 UniProtKB BP, AAE 4/3/2013 128 3300011871 Faith P20800 1907 EDN2 Homo sapiens 9606 Comment/tissue specificity Expressed in lung, but not in placental stem villi vessels or cultured placental villi smooth muscle cells. lung UBERON:0002048 Y Y ECO:0000006 PubMed:9284755 UniProtKB BP, AAE 4/3/2013 128 3300011872 Faith P20800 1907 EDN2 Homo sapiens 9606 Comment/subcellular location Secreted extracellular region GO:0005576 SL-0243 Y Y UniProtKB BP, AAE 4/3/2013 128 3300011874 Faith Q13018 22925 PLA2R1 Homo sapiens 9606 Comment/tissue specificity Present in lung macrophage (at protein level). Highly expressed in kidney. Also expressed in pancreas, amnion, choriodecidua and placenta. Isoform 2 is expressed at much lower level. alveolar macrophage BTO:0000802 lung macrophage CL:1001603 Y Y ECO:0000006 PubMed:7721806 PubMed:15611272 PubMed:7925459 PubMed:9481783 UniProtKB AAE 5/29/2013 103 3300012098 Faith Q13018 22925 PLA2R1 Homo sapiens 9606 Comment/tissue specificity Present in lung macrophage (at protein level). Highly expressed in kidney. Also expressed in pancreas, amnion, choriodecidua and placenta. Isoform 2 is expressed at much lower level. amnion BTO:0000065 Y Y ECO:0000006 PubMed:7721806 PubMed:15611272 PubMed:7925459 PubMed:9481783 UniProtKB AAE 5/29/2013 103 3300012099 Faith Q13018 22925 PLA2R1 Homo sapiens 9606 Comment/tissue specificity Present in lung macrophage (at protein level). Highly expressed in kidney. Also expressed in pancreas, amnion, choriodecidua and placenta. Isoform 2 is expressed at much lower level. amnion UBERON:0000305 Y Y ECO:0000006 PubMed:7721806 PubMed:15611272 PubMed:7925459 PubMed:9481783 UniProtKB AAE 5/29/2013 103 3300012100 Faith Q13018 22925 PLA2R1 Homo sapiens 9606 Comment/tissue specificity Present in lung macrophage (at protein level). Highly expressed in kidney. Also expressed in pancreas, amnion, choriodecidua and placenta. Isoform 2 is expressed at much lower level. choriodecidua BTO:0005211 Y Y ECO:0000006 PubMed:7721806 PubMed:15611272 PubMed:7925459 PubMed:9481783 UniProtKB AAE 5/29/2013 103 3300012101 Faith Q13018 22925 PLA2R1 Homo sapiens 9606 Comment/tissue specificity Present in lung macrophage (at protein level). Highly expressed in kidney. Also expressed in pancreas, amnion, choriodecidua and placenta. Isoform 2 is expressed at much lower level. kidney BTO:0000671 Y Y ECO:0000006 PubMed:7721806 PubMed:15611272 PubMed:7925459 PubMed:9481783 UniProtKB AAE 5/29/2013 103 3300012102 Faith Q13018 22925 PLA2R1 Homo sapiens 9606 Comment/tissue specificity Present in lung macrophage (at protein level). Highly expressed in kidney. Also expressed in pancreas, amnion, choriodecidua and placenta. Isoform 2 is expressed at much lower level. kidney UBERON:0002113 Y Y ECO:0000006 PubMed:7721806 PubMed:15611272 PubMed:7925459 PubMed:9481783 UniProtKB AAE 5/29/2013 103 3300012103 Faith Q13018 22925 PLA2R1 Homo sapiens 9606 Comment/tissue specificity Present in lung macrophage (at protein level). Highly expressed in kidney. Also expressed in pancreas, amnion, choriodecidua and placenta. Isoform 2 is expressed at much lower level. pancreas BTO:0000988 Y Y ECO:0000006 PubMed:7721806 PubMed:15611272 PubMed:7925459 PubMed:9481783 UniProtKB AAE 5/29/2013 103 3300012104 Faith Q13018 22925 PLA2R1 Homo sapiens 9606 Comment/tissue specificity Present in lung macrophage (at protein level). Highly expressed in kidney. Also expressed in pancreas, amnion, choriodecidua and placenta. Isoform 2 is expressed at much lower level. pancreas UBERON:0001264 Y Y ECO:0000006 PubMed:7721806 PubMed:15611272 PubMed:7925459 PubMed:9481783 UniProtKB AAE 5/29/2013 103 3300012105 Faith Q13018 22925 PLA2R1 Homo sapiens 9606 Comment/tissue specificity Present in lung macrophage (at protein level). Highly expressed in kidney. Also expressed in pancreas, amnion, choriodecidua and placenta. Isoform 2 is expressed at much lower level. placenta BTO:0001078 Y Y ECO:0000006 PubMed:7721806 PubMed:15611272 PubMed:7925459 PubMed:9481783 UniProtKB AAE 5/29/2013 103 3300012106 Faith Q13018 22925 PLA2R1 Homo sapiens 9606 Comment/tissue specificity Present in lung macrophage (at protein level). Highly expressed in kidney. Also expressed in pancreas, amnion, choriodecidua and placenta. Isoform 2 is expressed at much lower level. placenta UBERON:0001987 Y Y ECO:0000006 PubMed:7721806 PubMed:15611272 PubMed:7925459 PubMed:9481783 UniProtKB AAE 5/29/2013 103 3300012107 Faith Q13018 22925 PLA2R1 Homo sapiens 9606 Comment/subcellular location Secreted extracellular region GO:0005576 SL-0243 Y Y UniProtKB AAE 5/29/2013 103 3300012109 Faith P16435 5447 POR Homo sapiens 9606 EC 1.6.2.4 Y Y EC number UniProtKB AAE 5/29/2013 160 3300012115 Faith P16435 5447 POR Homo sapiens 9606 Comment/subcellular location Endoplasmic reticulum membrane;Peripheral membrane protein endoplasmic reticulum membrane GO:0005789 SL-0097 Y Y UniProtKB AAE 5/29/2013 160 3300012117 Faith P16435 5447 POR Homo sapiens 9606 Comment/Involvement in disease Antley-Bixler syndrome, with genital anomalies and disordered steroidogenesis (ABS1) [MIM:201750]: A disease characterized by the association of Antley-Bixler syndrome with steroidogenesis defects and abnormal genitalia. Antley-Bixler syndrome is characterized by craniosynostosis, radiohumeral synostosis present from the perinatal period, midface hypoplasia, choanal stenosis or atresia, femoral bowing and multiple joint contractures. Note=The disease is caused by mutations affecting the gene represented in this entry. MIM:201750 Antley-Bixler syndrome DOID:0050462 The disease is caused by mutations affecting the gene represented in this entry. Y Y ECO:0000006 PubMed:15264278 PubMed:15483095 PubMed:14758361 UniProtKB AAE 5/29/2013 160 3300012119 Faith P16435 5447 POR Homo sapiens 9606 Comment/Involvement in disease Antley-Bixler syndrome, with genital anomalies and disordered steroidogenesis (ABS1) [MIM:201750]: A disease characterized by the association of Antley-Bixler syndrome with steroidogenesis defects and abnormal genitalia. Antley-Bixler syndrome is characterized by craniosynostosis, radiohumeral synostosis present from the perinatal period, midface hypoplasia, choanal stenosis or atresia, femoral bowing and multiple joint contractures. Note=The disease is caused by mutations affecting the gene represented in this entry. MIM:201750 Antley-Bixler syndrome SNOMEDCT:62964007 The disease is caused by mutations affecting the gene represented in this entry. Y Y ECO:0000006 PubMed:15264278 PubMed:15483095 PubMed:14758361 UniProtKB AAE 5/29/2013 160 3300012120 Faith P16435 5447 POR Homo sapiens 9606 Comment/Involvement in disease Disordered steroidogenesis due to cytochrome P450 oxidoreductase deficiency (DISPORD) [MIM:613571]: A disorder resulting in a rare variant of congenital adrenal hyperplasia, with apparent combined P450C17 and P450C21 deficiency and accumulation of steroid metabolites. Affected girls are born with ambiguous genitalia, but their circulating androgens are low and virilization does not progress. Conversely, affected boys are sometimes born undermasculinized. Boys and girls can present with bone malformations, in some cases resembling the pattern seen in patients with Antley-Bixler syndrome. Note=The disease is caused by mutations affecting the gene represented in this entry. MIM:613571 The disease is caused by mutations affecting the gene represented in this entry. Y Y ECO:0000006 PubMed:14758361 PubMed:15220035 UniProtKB AAE 5/29/2013 160 3300012121 curatus P14174 4282 MIF Homo sapiens 9606 EC 5.3.2.1 Y Y EC number UniProtKB DGA, AAE 9/3/2014 174 3300033741 curatus P14174 4282 MIF Homo sapiens 9606 Comment/subcellular location Secreted extracellular region GO:0005576 SL-0243 Y Y UniProtKB DGA, AAE 9/3/2014 174 3300033744 curatus P14174 4282 MIF Homo sapiens 9606 Comment/Involvement in disease Rheumatoid arthritis systemic juvenile (RASJ): An inflammatory articular disorder with systemic-onset beginning before the age of 16. It represents a subgroup of juvenile arthritis associated with severe extraarticular features and occasionally fatal complications. During active phases of the disorder, patients display a typical daily spiking fever, an evanescent macular rash, lymphadenopathy, hepatosplenomegaly, serositis, myalgia and arthritis. MIM:604302 juvenile rheumatoid arthritis DOID:676 Disease susceptibility is associated with variations affecting the gene represented in this entry. Y Y UniProtKB DGA, AAE 9/3/2014 174 3300033747 curatus P14174 4282 MIF Homo sapiens 9606 Comment/tissue specificity Up-regulated in concanavalin-A-treated lymphocytes. Up-regulated in macrophages upon exposure to M.tuberculosis antigens. lymphocyte BTO:0000775 lymphocyte CL:0000542 Y Y ECO:0000269 PubMed:15908412 PubMed:2552447 UniProtKB inducible:concanavalin-A; topic changed from induction DGA, AAE 9/3/2014 174 3300033748 curatus P04233 972 CD74 Homo sapiens 9606 Comment/subcellular location Endoplasmic reticulum membrane endoplasmic reticulum membrane GO:0005789 SL-0097 Y Y UniProtKB DGA, AAE 9/3/2014 170 3300033751 curatus P04233 972 CD74 Homo sapiens 9606 Comment/subcellular location trans-Golgi network trans-Golgi network GO:0005802 SL-0266 Y Y UniProtKB DGA, AAE 9/3/2014 170 3300033752 curatus P04233 972 CD74 Homo sapiens 9606 Comment/subcellular location Lysosome lysosome GO:0005764 SL-0158 Y Y UniProtKB DGA, AAE 9/3/2014 170 3300033754 curatus P04233 972 CD74 Homo sapiens 9606 Comment/Involvement in disease A chromosomal aberration involving CD74 is found in a non-small cell lung tumor. Results in the formation of a CD74-ROS1 chimeric protein. non-small cell lung carcinoma DOID:3908 Y Y UniProtKB DGA, AAE 9/3/2014 170 3300033756 curatus P35462 1814 DRD3 Homo sapiens 9606 Comment/subcellular location Cell membrane;Multi-pass membrane protein plasma membrane GO:0005886 SL-0039 Y Y UniProtKB AAE 9/3/2014 147 3300033763 curatus P35462 1814 DRD3 Homo sapiens 9606 Comment/tissue specificity Brain. brain BTO:0000142 Y Y UniProtKB AAE 9/3/2014 147 3300033765 curatus P35462 1814 DRD3 Homo sapiens 9606 Comment/tissue specificity Brain. brain UBERON:0000955 Y Y UniProtKB AAE 9/3/2014 147 3300033766 curatus P35462 1814 DRD3 Homo sapiens 9606 Comment/Involvement in disease Tremor, hereditary essential 1 (ETM1): A common movement disorder mainly characterized by postural tremor of the arms. Head, legs, trunk, voice, jaw, and facial muscles also may be involved. The condition can be aggravated by emotions, hunger, fatigue and temperature extremes, and may cause a functional disability or even incapacitation. Inheritance is autosomal dominant. MIM:190300 essential tremor DOID:4990 Disease susceptibility is associated with variations affecting the gene represented in this entry. Y Y UniProtKB AAE 9/3/2014 147 3300033767 curatus P21917 1815 DRD4 Homo sapiens 9606 Comment/subcellular location Cell membrane;Multi-pass membrane protein plasma membrane GO:0005886 SL-0039 Y Y UniProtKB DGA, AAE 9/3/2014 142 3300033770 curatus O14788 8600 TNFSF11 Homo sapiens 9606 Comment/tissue specificity Highest in the peripheral lymph nodes, weak in spleen, peripheral blood Leukocytes, bone marrow, heart, placenta, skeletal muscle, stomach and thyroid. spleen BTO:0001281 Y Y UniProtKB DGA, AAE 7/9/2014 137 3300033775 curatus O14788 8600 TNFSF11 Homo sapiens 9606 Comment/tissue specificity Highest in the peripheral lymph nodes, weak in spleen, peripheral blood Leukocytes, bone marrow, heart, placenta, skeletal muscle, stomach and thyroid. bone marrow BTO:0000141 Y Y UniProtKB DGA, AAE 7/9/2014 137 3300033776 curatus O14788 8600 TNFSF11 Homo sapiens 9606 Comment/tissue specificity Highest in the peripheral lymph nodes, weak in spleen, peripheral blood Leukocytes, bone marrow, heart, placenta, skeletal muscle, stomach and thyroid. bone marrow UBERON:0002371 Y Y UniProtKB DGA, AAE 7/9/2014 137 3300033777 curatus O14788 8600 TNFSF11 Homo sapiens 9606 Comment/tissue specificity Highest in the peripheral lymph nodes, weak in spleen, peripheral blood Leukocytes, bone marrow, heart, placenta, skeletal muscle, stomach and thyroid. heart BTO:0000562 Y Y UniProtKB DGA, AAE 7/9/2014 137 3300033778 curatus O14788 8600 TNFSF11 Homo sapiens 9606 Comment/tissue specificity Highest in the peripheral lymph nodes, weak in spleen, peripheral blood Leukocytes, bone marrow, heart, placenta, skeletal muscle, stomach and thyroid. heart UBERON:0000948 Y Y UniProtKB DGA, AAE 7/9/2014 137 3300033779 curatus O14788 8600 TNFSF11 Homo sapiens 9606 Comment/tissue specificity Highest in the peripheral lymph nodes, weak in spleen, peripheral blood Leukocytes, bone marrow, heart, placenta, skeletal muscle, stomach and thyroid. placenta BTO:0001078 Y Y UniProtKB DGA, AAE 7/9/2014 137 3300033780 curatus O14788 8600 TNFSF11 Homo sapiens 9606 Comment/tissue specificity Highest in the peripheral lymph nodes, weak in spleen, peripheral blood Leukocytes, bone marrow, heart, placenta, skeletal muscle, stomach and thyroid. placenta UBERON:0001987 Y Y UniProtKB DGA, AAE 7/9/2014 137 3300033781 curatus O14788 8600 TNFSF11 Homo sapiens 9606 Comment/tissue specificity Highest in the peripheral lymph nodes, weak in spleen, peripheral blood Leukocytes, bone marrow, heart, placenta, skeletal muscle, stomach and thyroid. skeletal muscle BTO:0001103 Y Y UniProtKB DGA, AAE 7/9/2014 137 3300033782 curatus O14788 8600 TNFSF11 Homo sapiens 9606 Comment/tissue specificity Highest in the peripheral lymph nodes, weak in spleen, peripheral blood Leukocytes, bone marrow, heart, placenta, skeletal muscle, stomach and thyroid. skeletal muscle tissue UBERON:0001134 Y Y UniProtKB DGA, AAE 7/9/2014 137 3300033783 curatus O14788 8600 TNFSF11 Homo sapiens 9606 Comment/tissue specificity Highest in the peripheral lymph nodes, weak in spleen, peripheral blood Leukocytes, bone marrow, heart, placenta, skeletal muscle, stomach and thyroid. stomach BTO:0001307 Y Y UniProtKB DGA, AAE 7/9/2014 137 3300033784 curatus O14788 8600 TNFSF11 Homo sapiens 9606 Comment/tissue specificity Highest in the peripheral lymph nodes, weak in spleen, peripheral blood Leukocytes, bone marrow, heart, placenta, skeletal muscle, stomach and thyroid. stomach UBERON:0000945 Y Y UniProtKB DGA, AAE 7/9/2014 137 3300033785 curatus O14788 8600 TNFSF11 Homo sapiens 9606 Comment/Involvement in disease Osteopetrosis, autosomal recessive 2 (OPTB2): A rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. Osteopetrosis occurs in two forms: a severe autosomal recessive form occurring in utero, infancy, or childhood, and a benign autosomal dominant form occurring in adolescence or adulthood. Recessive osteopetrosis commonly manifests in early infancy with macrocephaly, feeding difficulties, evolving blindness and deafness, bone marrow failure, severe anemia, and hepatosplenomegaly. Deafness and blindness are generally thought to represent effects of pressure on nerves. OPTB2 is characterized by paucity of osteoclasts, suggesting a molecular defect in osteoclast development. MIM:259710 osteopetrosis DOID:13533 ICD:756.52 The disease is caused by mutations affecting the gene represented in this entry. Y Y UniProtKB DGA, AAE 7/9/2014 137 3300033786 curatus Q9Y6Q6 8792 TNFRSF11A Homo sapiens 9606 Comment/subcellular location Cell membrane;Single-pass type I membrane protein plasma membrane GO:0005886 SL-0039 Y Y UniProtKB AAE 7/9/2014 129 3300033789 curatus Q9Y6Q6 8792 TNFRSF11A Homo sapiens 9606 Comment/tissue specificity Ubiquitous expression with high levels in skeletal muscle, thymus, liver, colon, small intestine and adrenal gland. adrenal gland UBERON:0002369 Y Y UniProtKB AAE 7/9/2014 129 3300033790 curatus Q9Y6Q6 8792 TNFRSF11A Homo sapiens 9606 Comment/tissue specificity Ubiquitous expression with high levels in skeletal muscle, thymus, liver, colon, small intestine and adrenal gland. thymus BTO:0001374 Y Y UniProtKB AAE 7/9/2014 129 3300033791 curatus Q9Y6Q6 8792 TNFRSF11A Homo sapiens 9606 Comment/tissue specificity Ubiquitous expression with high levels in skeletal muscle, thymus, liver, colon, small intestine and adrenal gland. thymus UBERON:0002370 Y Y UniProtKB AAE 7/9/2014 129 3300033792 curatus Q9Y6Q6 8792 TNFRSF11A Homo sapiens 9606 Comment/tissue specificity Ubiquitous expression with high levels in skeletal muscle, thymus, liver, colon, small intestine and adrenal gland. liver BTO:0000759 Y Y UniProtKB AAE 7/9/2014 129 3300033793 curatus Q9Y6Q6 8792 TNFRSF11A Homo sapiens 9606 Comment/tissue specificity Ubiquitous expression with high levels in skeletal muscle, thymus, liver, colon, small intestine and adrenal gland. liver UBERON:0002107 Y Y UniProtKB AAE 7/9/2014 129 3300033794 curatus Q9Y6Q6 8792 TNFRSF11A Homo sapiens 9606 Comment/tissue specificity Ubiquitous expression with high levels in skeletal muscle, thymus, liver, colon, small intestine and adrenal gland. colon BTO:0000269 Y Y UniProtKB AAE 7/9/2014 129 3300033795 curatus Q9Y6Q6 8792 TNFRSF11A Homo sapiens 9606 Comment/tissue specificity Ubiquitous expression with high levels in skeletal muscle, thymus, liver, colon, small intestine and adrenal gland. colon UBERON:0001155 Y Y UniProtKB AAE 7/9/2014 129 3300033796 curatus Q9Y6Q6 8792 TNFRSF11A Homo sapiens 9606 Comment/tissue specificity Ubiquitous expression with high levels in skeletal muscle, thymus, liver, colon, small intestine and adrenal gland. small intestine BTO:0000651 Y Y UniProtKB AAE 7/9/2014 129 3300033797 curatus Q9Y6Q6 8792 TNFRSF11A Homo sapiens 9606 Comment/tissue specificity Ubiquitous expression with high levels in skeletal muscle, thymus, liver, colon, small intestine and adrenal gland. small intestine UBERON:0002108 Y Y UniProtKB AAE 7/9/2014 129 3300033798 curatus Q9Y6Q6 8792 TNFRSF11A Homo sapiens 9606 Comment/Involvement in disease Familial expansile osteolysis (FEO): Rare autosomal dominant bone disorder characterized by focal areas of increased bone remodeling. The osteolytic lesions develop usually in the long bones during early adulthood. FEO is often associated with early-onset deafness and loss of dentition. MIM:174810 bone remodeling disease DOID:0080005 The disease is caused by mutations affecting the gene represented in this entry. Y Y UniProtKB DOID term is an approximation of MIM term AAE 7/9/2014 129 3300033799 curatus Q9Y6Q6 8792 TNFRSF11A Homo sapiens 9606 Comment/Involvement in disease Paget disease of bone 2 (PDB2): Bone-remodeling disorder with clinical similarities to FEO. Unlike FEO, however, affected individuals have involvement of the axial skeleton with lesions in the spine, pelvis and skull. MIM:602080 Paget's disease of bone DOID:5408 The disease is caused by mutations affecting the gene represented in this entry. Y Y UniProtKB AAE 7/9/2014 129 3300033800 curatus Q9Y6Q6 8792 TNFRSF11A Homo sapiens 9606 Comment/Involvement in disease Osteopetrosis, autosomal recessive 7 (OPTB7): A rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. Osteopetrosis occurs in two forms: a severe autosomal recessive form occurring in utero, infancy, or childhood, and a benign autosomal dominant form occurring in adolescence or adulthood. Recessive osteopetrosis commonly manifests in early infancy with macrocephaly, feeding difficulties, evolving blindness and deafness, bone marrow failure, severe anemia, and hepatosplenomegaly. Deafness and blindness are generally thought to represent effects of pressure on nerves. OPTB7 is characterized by paucity of osteoclasts, suggesting a molecular defect in osteoclast development. OPTB7 is associated with hypogammaglobulinemia. MIM:612301 osteopetrosis DOID:13533 ICD:756.52 The disease is caused by mutations affecting the gene represented in this entry. Y Y UniProtKB AAE 7/9/2014 129 3300033801 curatus 3553 IL1B Homo sapiens 9606 Comment/subcellular location Secreted extracellular region GO:0005576 SL-0243 Y Y UniProtKB DGA, AAE 9/3/2014 181 3300033808 curatus P43405 6850 SYK Homo sapiens 9606 EC 2.7.10.2 Y Y EC number UniProtKB AAE 9/3/2014 171 3300033810 curatus P43405 6850 SYK Homo sapiens 9606 Comment/function Non-receptor tyrosine kinase which mediates signal transduction downstream of a variety of transmembrane receptors including classical immunoreceptors like the B-cell receptor (BCR). Regulates several biological processes including innate and adaptive immunity, cell adhesion, osteoclast maturation, platelet activation and vascular development. Assembles into signaling complexes with activated receptors at the plasma membrane via interaction between its SH2 domains and the receptor tyrosine-phosphorylated ITAM domains. The association with the receptor can also be indirect and mediated by adapter proteins containing ITAM or partial hemITAM domains. The phosphorylation of the ITAM domains is generally mediated by SRC subfamily kinases upon engagement of the receptor. More rarely signal transduction via SYK could be ITAM-independent. Direct downstream effectors phosphorylated by SYK include VAV1, PLCG1, PI-3-kinase, LCP2 and BLNK. Initially identified as essential in B-cell receptor (BCR) signaling, it is necessary for the maturation of B-cells most probably at the pro-B to pre-B transition. Activated upon BCR engagement, it phosphorylates and activates BLNK an adapter linking the activated BCR to downstream signaling adapters and effectors. It also phosphorylates and activates PLCG1 and the PKC signaling pathway. It also phosphorylates BTK and regulates its activity in B-cell antigen receptor (BCR)-coupled signaling. Beside its function downstream of BCR plays also a role in T-cell receptor signaling. Plays also a crucial role in the innate immune response to fungal, bacterial and viral pathogens. It is for instance activated by the membrane lectin CLEC7A. Upon stimulation by fungal proteins, CLEC7A together with SYK activates immune cells inducing the production of ROS. Also activates the inflammasome and NF-kappa-B-mediated transcription of chemokines and cytokines in presence of pathogens. Regulates neutrophil degranulation and phagocytosis through activation of the MAPK signaling cascade. Also mediates the activation of dendritic cells by cell necrosis stimuli. Also involved in mast cells activation. Also functions downstream of receptors mediating cell adhesion. Relays for instance, integrin-mediated neutrophils and macrophages activation and P-selectin receptor/SELPG-mediated recruitment of leukocytes to inflammatory loci. Plays also a role in non-immune processes. It is for instance involved in vascular development where it may regulate blood and lymphatic vascular separation. It is also required for osteoclast development and function. Functions in the activation of platelets by collagen, mediating PLCG2 phosphorylation and activation. May be coupled to the collagen receptor by the ITAM domain-containing FCER1G. Also activated by the membrane lectin CLEC1B that is required for activation of platelets by PDPN/podoplanin. Involved in platelet adhesion being activated by ITGB3 engaged by fibrinogen. Y Y ECO:0000269 PubMed:8657103 PubMed:9535867 PubMed:12456653 PubMed:12387735 PubMed:15388330 PubMed:19909739 UniProtKB AAE 9/3/2014 171 3300033811 curatus P43405 6850 SYK Homo sapiens 9606 Comment/subcellular location Cytosol cytosol GO:0005829 SL-0091 Y Y UniProtKB AAE 9/3/2014 171 3300033813 curatus P43405 6850 SYK Homo sapiens 9606 Comment/tissue specificity Widely expressed in hematopoietic cells (at protein level). Within the B-cells compartment it is for instance expressed for pro-B-cells to plasma cells. Y Y ECO:0000269 PubMed:8163536 UniProtKB AAE 9/3/2014 171 3300033814 curatus P45984 5601 MAPK9 Homo sapiens 9606 EC 2.7.11.24 Y Y EC number UniProtKB DGA, AAE 9/3/2014 160 3300033815 curatus Q86YL7 10630 PDPN Homo sapiens 9606 Comment/tissue specificity Highly expressed in placenta, lung, skeletal muscle and brain. Weakly expressed in brain, kidney and liver. In placenta, expressed on the apical plasma membrane of endothelium. In lung, expressed in alveolar epithelium. Up-regulated in colorectal tumors and expressed in 25% of early oral squamous cell carcinomas. placenta BTO:0001078 Y Y ECO:0000269 PubMed:15515019 PubMed:14522983 PubMed:10393083 UniProtKB AAE 7/9/2014 98 3300033827 curatus Q86YL7 10630 PDPN Homo sapiens 9606 Comment/tissue specificity Highly expressed in placenta, lung, skeletal muscle and brain. Weakly expressed in brain, kidney and liver. In placenta, expressed on the apical plasma membrane of endothelium. In lung, expressed in alveolar epithelium. Up-regulated in colorectal tumors and expressed in 25% of early oral squamous cell carcinomas. lung BTO:0000763 Y Y ECO:0000269 PubMed:15515019 PubMed:14522983 PubMed:10393083 UniProtKB AAE 7/9/2014 98 3300033828 curatus Q86YL7 10630 PDPN Homo sapiens 9606 Comment/tissue specificity Highly expressed in placenta, lung, skeletal muscle and brain. Weakly expressed in brain, kidney and liver. In placenta, expressed on the apical plasma membrane of endothelium. In lung, expressed in alveolar epithelium. Up-regulated in colorectal tumors and expressed in 25% of early oral squamous cell carcinomas. lung UBERON:0002048 Y Y ECO:0000269 PubMed:15515019 PubMed:14522983 PubMed:10393083 UniProtKB AAE 7/9/2014 98 3300033829 curatus Q86YL7 10630 PDPN Homo sapiens 9606 Comment/tissue specificity Highly expressed in placenta, lung, skeletal muscle and brain. Weakly expressed in brain, kidney and liver. In placenta, expressed on the apical plasma membrane of endothelium. In lung, expressed in alveolar epithelium. Up-regulated in colorectal tumors and expressed in 25% of early oral squamous cell carcinomas. skeletal muscle BTO:0001103 Y Y ECO:0000269 PubMed:15515019 PubMed:14522983 PubMed:10393083 UniProtKB AAE 7/9/2014 98 3300033830 curatus Q86YL7 10630 PDPN Homo sapiens 9606 Comment/tissue specificity Highly expressed in placenta, lung, skeletal muscle and brain. Weakly expressed in brain, kidney and liver. In placenta, expressed on the apical plasma membrane of endothelium. In lung, expressed in alveolar epithelium. Up-regulated in colorectal tumors and expressed in 25% of early oral squamous cell carcinomas. skeletal muscle tissue UBERON:0001134 Y Y ECO:0000269 PubMed:15515019 PubMed:14522983 PubMed:10393083 UniProtKB AAE 7/9/2014 98 3300033831 curatus Q86YL7 10630 PDPN Homo sapiens 9606 Comment/tissue specificity Highly expressed in placenta, lung, skeletal muscle and brain. Weakly expressed in brain, kidney and liver. In placenta, expressed on the apical plasma membrane of endothelium. In lung, expressed in alveolar epithelium. Up-regulated in colorectal tumors and expressed in 25% of early oral squamous cell carcinomas. brain BTO:0000142 Y Y ECO:0000269 PubMed:15515019 PubMed:14522983 PubMed:10393083 UniProtKB AAE 7/9/2014 98 3300033832 curatus Q86YL7 10630 PDPN Homo sapiens 9606 Comment/tissue specificity Highly expressed in placenta, lung, skeletal muscle and brain. Weakly expressed in brain, kidney and liver. In placenta, expressed on the apical plasma membrane of endothelium. In lung, expressed in alveolar epithelium. Up-regulated in colorectal tumors and expressed in 25% of early oral squamous cell carcinomas. brain UBERON:0000955 Y Y ECO:0000269 PubMed:15515019 PubMed:14522983 PubMed:10393083 UniProtKB AAE 7/9/2014 98 3300033833 curatus Q86YL7 10630 PDPN Homo sapiens 9606 Comment/tissue specificity Highly expressed in placenta, lung, skeletal muscle and brain. Weakly expressed in brain, kidney and liver. In placenta, expressed on the apical plasma membrane of endothelium. In lung, expressed in alveolar epithelium. Up-regulated in colorectal tumors and expressed in 25% of early oral squamous cell carcinomas. kidney BTO:0000671 Y Y ECO:0000269 PubMed:15515019 PubMed:14522983 PubMed:10393083 UniProtKB AAE 7/9/2014 98 3300033834 curatus Q86YL7 10630 PDPN Homo sapiens 9606 Comment/tissue specificity Highly expressed in placenta, lung, skeletal muscle and brain. Weakly expressed in brain, kidney and liver. In placenta, expressed on the apical plasma membrane of endothelium. In lung, expressed in alveolar epithelium. Up-regulated in colorectal tumors and expressed in 25% of early oral squamous cell carcinomas. kidney UBERON:0002113 Y Y ECO:0000269 PubMed:15515019 PubMed:14522983 PubMed:10393083 UniProtKB AAE 7/9/2014 98 3300033835 curatus Q86YL7 10630 PDPN Homo sapiens 9606 Comment/tissue specificity Highly expressed in placenta, lung, skeletal muscle and brain. Weakly expressed in brain, kidney and liver. In placenta, expressed on the apical plasma membrane of endothelium. In lung, expressed in alveolar epithelium. Up-regulated in colorectal tumors and expressed in 25% of early oral squamous cell carcinomas. liver BTO:0000759 Y Y ECO:0000269 PubMed:15515019 PubMed:14522983 PubMed:10393083 UniProtKB AAE 7/9/2014 98 3300033836 curatus Q86YL7 10630 PDPN Homo sapiens 9606 Comment/tissue specificity Highly expressed in placenta, lung, skeletal muscle and brain. Weakly expressed in brain, kidney and liver. In placenta, expressed on the apical plasma membrane of endothelium. In lung, expressed in alveolar epithelium. Up-regulated in colorectal tumors and expressed in 25% of early oral squamous cell carcinomas. liver UBERON:0002107 Y Y ECO:0000269 PubMed:15515019 PubMed:14522983 PubMed:10393083 UniProtKB AAE 7/9/2014 98 3300033837 curatus Q969F8 84634 KISS1R Homo sapiens 9606 Comment/subcellular location Cell membrane;Multi-pass membrane protein plasma membrane GO:0005886 SL-0039 Y Y UniProtKB AAE 9/3/2014 114 3300033840 curatus Q969F8 84634 KISS1R Homo sapiens 9606 Comment/Involvement in disease Most highly expressed in the pancreas, placenta and spinal cord, with lower-level of expression in peripheral blood leukocytes, kidney, lung, fetal liver, stomach, small intestine, testes, spleen, thymus, adrenal glands and lymph nodes. In the adult brain, expressed in the superior frontal gyrus, putamen, caudate nucleus, cingulate gyrus, nucleus accumbens, hippocampus, pons and amygdala, as well as the hypothalamus and pituitary. Expression levels are higher in early (7-9 weeks) than term placentas. Expression levels were increased in both early placentas and molar pregnancies and were reduced in choriocarcinoma cells. Expressed at higher levels in first trimester trophoblasts than at term of gestation. Also found in the extravillous trophoblast suggesting endocrine/paracrine activation mechanism. choriocarcinoma DOID:3594 Y Y ECO:0000269 PubMed:11457843 PubMed:15020672 PubMed:11385580 PubMed:11414709 PubMed:11387329 PubMed:12414911 UniProtKB changed topic from tissue specificity AAE 9/3/2014 114 3300033841 curatus Q969F8 84634 KISS1R Homo sapiens 9606 Comment/tissue specificity Most highly expressed in the pancreas, placenta and spinal cord, with lower-level of expression in peripheral blood leukocytes, kidney, lung, fetal liver, stomach, small intestine, testes, spleen, thymus, adrenal glands and lymph nodes. In the adult brain, expressed in the superior frontal gyrus, putamen, caudate nucleus, cingulate gyrus, nucleus accumbens, hippocampus, pons and amygdala, as well as the hypothalamus and pituitary. Expression levels are higher in early (7-9 weeks) than term placentas. Expression levels were increased in both early placentas and molar pregnancies and were reduced in choriocarcinoma cells. Expressed at higher levels in first trimester trophoblasts than at term of gestation. Also found in the extravillous trophoblast suggesting endocrine/paracrine activation mechanism. placenta BTO:0001078 Y Y ECO:0000269 PubMed:11457843 PubMed:15020672 PubMed:11385580 PubMed:11414709 PubMed:11387329 PubMed:12414911 UniProtKB Expression levels are higher in early (7-9 weeks) than term placentas AAE 9/3/2014 114 3300033842 curatus Q969F8 84634 KISS1R Homo sapiens 9606 Comment/tissue specificity Most highly expressed in the pancreas, placenta and spinal cord, with lower-level of expression in peripheral blood leukocytes, kidney, lung, fetal liver, stomach, small intestine, testes, spleen, thymus, adrenal glands and lymph nodes. In the adult brain, expressed in the superior frontal gyrus, putamen, caudate nucleus, cingulate gyrus, nucleus accumbens, hippocampus, pons and amygdala, as well as the hypothalamus and pituitary. Expression levels are higher in early (7-9 weeks) than term placentas. Expression levels were increased in both early placentas and molar pregnancies and were reduced in choriocarcinoma cells. Expressed at higher levels in first trimester trophoblasts than at term of gestation. Also found in the extravillous trophoblast suggesting endocrine/paracrine activation mechanism. placenta UBERON:0001987 Y Y ECO:0000269 PubMed:11457843 PubMed:15020672 PubMed:11385580 PubMed:11414709 PubMed:11387329 PubMed:12414911 UniProtKB Expression levels are higher in early (7-9 weeks) than term placentas AAE 9/3/2014 114 3300033843 curatus Q969F8 84634 KISS1R Homo sapiens 9606 Comment/tissue specificity Most highly expressed in the pancreas, placenta and spinal cord, with lower-level of expression in peripheral blood leukocytes, kidney, lung, fetal liver, stomach, small intestine, testes, spleen, thymus, adrenal glands and lymph nodes. In the adult brain, expressed in the superior frontal gyrus, putamen, caudate nucleus, cingulate gyrus, nucleus accumbens, hippocampus, pons and amygdala, as well as the hypothalamus and pituitary. Expression levels are higher in early (7-9 weeks) than term placentas. Expression levels were increased in both early placentas and molar pregnancies and were reduced in choriocarcinoma cells. Expressed at higher levels in first trimester trophoblasts than at term of gestation. Also found in the extravillous trophoblast suggesting endocrine/paracrine activation mechanism. spinal cord BTO:0001279 Y Y ECO:0000269 PubMed:11457843 PubMed:15020672 PubMed:11385580 PubMed:11414709 PubMed:11387329 PubMed:12414911 UniProtKB AAE 9/3/2014 114 3300033844 curatus Q969F8 84634 KISS1R Homo sapiens 9606 Comment/tissue specificity Most highly expressed in the pancreas, placenta and spinal cord, with lower-level of expression in peripheral blood leukocytes, kidney, lung, fetal liver, stomach, small intestine, testes, spleen, thymus, adrenal glands and lymph nodes. In the adult brain, expressed in the superior frontal gyrus, putamen, caudate nucleus, cingulate gyrus, nucleus accumbens, hippocampus, pons and amygdala, as well as the hypothalamus and pituitary. Expression levels are higher in early (7-9 weeks) than term placentas. Expression levels were increased in both early placentas and molar pregnancies and were reduced in choriocarcinoma cells. Expressed at higher levels in first trimester trophoblasts than at term of gestation. Also found in the extravillous trophoblast suggesting endocrine/paracrine activation mechanism. spinal cord UBERON:0002240 Y Y ECO:0000269 PubMed:11457843 PubMed:15020672 PubMed:11385580 PubMed:11414709 PubMed:11387329 PubMed:12414911 UniProtKB AAE 9/3/2014 114 3300033845 curatus Q969F8 84634 KISS1R Homo sapiens 9606 Comment/tissue specificity Most highly expressed in the pancreas, placenta and spinal cord, with lower-level of expression in peripheral blood leukocytes, kidney, lung, fetal liver, stomach, small intestine, testes, spleen, thymus, adrenal glands and lymph nodes. In the adult brain, expressed in the superior frontal gyrus, putamen, caudate nucleus, cingulate gyrus, nucleus accumbens, hippocampus, pons and amygdala, as well as the hypothalamus and pituitary. Expression levels are higher in early (7-9 weeks) than term placentas. Expression levels were increased in both early placentas and molar pregnancies and were reduced in choriocarcinoma cells. Expressed at higher levels in first trimester trophoblasts than at term of gestation. Also found in the extravillous trophoblast suggesting endocrine/paracrine activation mechanism. kidney BTO:0000671 Y Y ECO:0000269 PubMed:11457843 PubMed:15020672 PubMed:11385580 PubMed:11414709 PubMed:11387329 PubMed:12414911 UniProtKB AAE 9/3/2014 114 3300033846 curatus Q969F8 84634 KISS1R Homo sapiens 9606 Comment/tissue specificity Most highly expressed in the pancreas, placenta and spinal cord, with lower-level of expression in peripheral blood leukocytes, kidney, lung, fetal liver, stomach, small intestine, testes, spleen, thymus, adrenal glands and lymph nodes. In the adult brain, expressed in the superior frontal gyrus, putamen, caudate nucleus, cingulate gyrus, nucleus accumbens, hippocampus, pons and amygdala, as well as the hypothalamus and pituitary. Expression levels are higher in early (7-9 weeks) than term placentas. Expression levels were increased in both early placentas and molar pregnancies and were reduced in choriocarcinoma cells. Expressed at higher levels in first trimester trophoblasts than at term of gestation. Also found in the extravillous trophoblast suggesting endocrine/paracrine activation mechanism. kidney UBERON:0002113 Y Y ECO:0000269 PubMed:11457843 PubMed:15020672 PubMed:11385580 PubMed:11414709 PubMed:11387329 PubMed:12414911 UniProtKB AAE 9/3/2014 114 3300033847 curatus Q969F8 84634 KISS1R Homo sapiens 9606 Comment/tissue specificity Most highly expressed in the pancreas, placenta and spinal cord, with lower-level of expression in peripheral blood leukocytes, kidney, lung, fetal liver, stomach, small intestine, testes, spleen, thymus, adrenal glands and lymph nodes. In the adult brain, expressed in the superior frontal gyrus, putamen, caudate nucleus, cingulate gyrus, nucleus accumbens, hippocampus, pons and amygdala, as well as the hypothalamus and pituitary. Expression levels are higher in early (7-9 weeks) than term placentas. Expression levels were increased in both early placentas and molar pregnancies and were reduced in choriocarcinoma cells. Expressed at higher levels in first trimester trophoblasts than at term of gestation. Also found in the extravillous trophoblast suggesting endocrine/paracrine activation mechanism. lung BTO:0000763 Y Y ECO:0000269 PubMed:11457843 PubMed:15020672 PubMed:11385580 PubMed:11414709 PubMed:11387329 PubMed:12414911 UniProtKB AAE 9/3/2014 114 3300033848 curatus Q969F8 84634 KISS1R Homo sapiens 9606 Comment/tissue specificity Most highly expressed in the pancreas, placenta and spinal cord, with lower-level of expression in peripheral blood leukocytes, kidney, lung, fetal liver, stomach, small intestine, testes, spleen, thymus, adrenal glands and lymph nodes. In the adult brain, expressed in the superior frontal gyrus, putamen, caudate nucleus, cingulate gyrus, nucleus accumbens, hippocampus, pons and amygdala, as well as the hypothalamus and pituitary. Expression levels are higher in early (7-9 weeks) than term placentas. Expression levels were increased in both early placentas and molar pregnancies and were reduced in choriocarcinoma cells. Expressed at higher levels in first trimester trophoblasts than at term of gestation. Also found in the extravillous trophoblast suggesting endocrine/paracrine activation mechanism. lung UBERON:0002048 Y Y ECO:0000269 PubMed:11457843 PubMed:15020672 PubMed:11385580 PubMed:11414709 PubMed:11387329 PubMed:12414911 UniProtKB AAE 9/3/2014 114 3300033849 curatus Q969F8 84634 KISS1R Homo sapiens 9606 Comment/tissue specificity Most highly expressed in the pancreas, placenta and spinal cord, with lower-level of expression in peripheral blood leukocytes, kidney, lung, fetal liver, stomach, small intestine, testes, spleen, thymus, adrenal glands and lymph nodes. In the adult brain, expressed in the superior frontal gyrus, putamen, caudate nucleus, cingulate gyrus, nucleus accumbens, hippocampus, pons and amygdala, as well as the hypothalamus and pituitary. Expression levels are higher in early (7-9 weeks) than term placentas. Expression levels were increased in both early placentas and molar pregnancies and were reduced in choriocarcinoma cells. Expressed at higher levels in first trimester trophoblasts than at term of gestation. Also found in the extravillous trophoblast suggesting endocrine/paracrine activation mechanism. stomach BTO:0001307 Y Y ECO:0000269 PubMed:11457843 PubMed:15020672 PubMed:11385580 PubMed:11414709 PubMed:11387329 PubMed:12414911 UniProtKB AAE 9/3/2014 114 3300033850 curatus Q969F8 84634 KISS1R Homo sapiens 9606 Comment/tissue specificity Most highly expressed in the pancreas, placenta and spinal cord, with lower-level of expression in peripheral blood leukocytes, kidney, lung, fetal liver, stomach, small intestine, testes, spleen, thymus, adrenal glands and lymph nodes. In the adult brain, expressed in the superior frontal gyrus, putamen, caudate nucleus, cingulate gyrus, nucleus accumbens, hippocampus, pons and amygdala, as well as the hypothalamus and pituitary. Expression levels are higher in early (7-9 weeks) than term placentas. Expression levels were increased in both early placentas and molar pregnancies and were reduced in choriocarcinoma cells. Expressed at higher levels in first trimester trophoblasts than at term of gestation. Also found in the extravillous trophoblast suggesting endocrine/paracrine activation mechanism. stomach UBERON:0000945 Y Y ECO:0000269 PubMed:11457843 PubMed:15020672 PubMed:11385580 PubMed:11414709 PubMed:11387329 PubMed:12414911 UniProtKB AAE 9/3/2014 114 3300033851 curatus Q969F8 84634 KISS1R Homo sapiens 9606 Comment/tissue specificity Most highly expressed in the pancreas, placenta and spinal cord, with lower-level of expression in peripheral blood leukocytes, kidney, lung, fetal liver, stomach, small intestine, testes, spleen, thymus, adrenal glands and lymph nodes. In the adult brain, expressed in the superior frontal gyrus, putamen, caudate nucleus, cingulate gyrus, nucleus accumbens, hippocampus, pons and amygdala, as well as the hypothalamus and pituitary. Expression levels are higher in early (7-9 weeks) than term placentas. Expression levels were increased in both early placentas and molar pregnancies and were reduced in choriocarcinoma cells. Expressed at higher levels in first trimester trophoblasts than at term of gestation. Also found in the extravillous trophoblast suggesting endocrine/paracrine activation mechanism. small intestine BTO:0000651 Y Y ECO:0000269 PubMed:11457843 PubMed:15020672 PubMed:11385580 PubMed:11414709 PubMed:11387329 PubMed:12414911 UniProtKB AAE 9/3/2014 114 3300033852 curatus Q969F8 84634 KISS1R Homo sapiens 9606 Comment/tissue specificity Most highly expressed in the pancreas, placenta and spinal cord, with lower-level of expression in peripheral blood leukocytes, kidney, lung, fetal liver, stomach, small intestine, testes, spleen, thymus, adrenal glands and lymph nodes. In the adult brain, expressed in the superior frontal gyrus, putamen, caudate nucleus, cingulate gyrus, nucleus accumbens, hippocampus, pons and amygdala, as well as the hypothalamus and pituitary. Expression levels are higher in early (7-9 weeks) than term placentas. Expression levels were increased in both early placentas and molar pregnancies and were reduced in choriocarcinoma cells. Expressed at higher levels in first trimester trophoblasts than at term of gestation. Also found in the extravillous trophoblast suggesting endocrine/paracrine activation mechanism. small intestine UBERON:0002108 Y Y ECO:0000269 PubMed:11457843 PubMed:15020672 PubMed:11385580 PubMed:11414709 PubMed:11387329 PubMed:12414911 UniProtKB AAE 9/3/2014 114 3300033853 curatus Q969F8 84634 KISS1R Homo sapiens 9606 Comment/tissue specificity Most highly expressed in the pancreas, placenta and spinal cord, with lower-level of expression in peripheral blood leukocytes, kidney, lung, fetal liver, stomach, small intestine, testes, spleen, thymus, adrenal glands and lymph nodes. In the adult brain, expressed in the superior frontal gyrus, putamen, caudate nucleus, cingulate gyrus, nucleus accumbens, hippocampus, pons and amygdala, as well as the hypothalamus and pituitary. Expression levels are higher in early (7-9 weeks) than term placentas. Expression levels were increased in both early placentas and molar pregnancies and were reduced in choriocarcinoma cells. Expressed at higher levels in first trimester trophoblasts than at term of gestation. Also found in the extravillous trophoblast suggesting endocrine/paracrine activation mechanism. spleen BTO:0001281 Y Y ECO:0000269 PubMed:11457843 PubMed:15020672 PubMed:11385580 PubMed:11414709 PubMed:11387329 PubMed:12414911 UniProtKB AAE 9/3/2014 114 3300033854 curatus Q969F8 84634 KISS1R Homo sapiens 9606 Comment/tissue specificity Most highly expressed in the pancreas, placenta and spinal cord, with lower-level of expression in peripheral blood leukocytes, kidney, lung, fetal liver, stomach, small intestine, testes, spleen, thymus, adrenal glands and lymph nodes. In the adult brain, expressed in the superior frontal gyrus, putamen, caudate nucleus, cingulate gyrus, nucleus accumbens, hippocampus, pons and amygdala, as well as the hypothalamus and pituitary. Expression levels are higher in early (7-9 weeks) than term placentas. Expression levels were increased in both early placentas and molar pregnancies and were reduced in choriocarcinoma cells. Expressed at higher levels in first trimester trophoblasts than at term of gestation. Also found in the extravillous trophoblast suggesting endocrine/paracrine activation mechanism. spleen UBERON:0002106 Y Y ECO:0000269 PubMed:11457843 PubMed:15020672 PubMed:11385580 PubMed:11414709 PubMed:11387329 PubMed:12414911 UniProtKB AAE 9/3/2014 114 3300033855 curatus Q969F8 84634 KISS1R Homo sapiens 9606 Comment/tissue specificity Most highly expressed in the pancreas, placenta and spinal cord, with lower-level of expression in peripheral blood leukocytes, kidney, lung, fetal liver, stomach, small intestine, testes, spleen, thymus, adrenal glands and lymph nodes. In the adult brain, expressed in the superior frontal gyrus, putamen, caudate nucleus, cingulate gyrus, nucleus accumbens, hippocampus, pons and amygdala, as well as the hypothalamus and pituitary. Expression levels are higher in early (7-9 weeks) than term placentas. Expression levels were increased in both early placentas and molar pregnancies and were reduced in choriocarcinoma cells. Expressed at higher levels in first trimester trophoblasts than at term of gestation. Also found in the extravillous trophoblast suggesting endocrine/paracrine activation mechanism. thymus BTO:0001374 Y Y ECO:0000269 PubMed:11457843 PubMed:15020672 PubMed:11385580 PubMed:11414709 PubMed:11387329 PubMed:12414911 UniProtKB AAE 9/3/2014 114 3300033856 curatus Q969F8 84634 KISS1R Homo sapiens 9606 Comment/tissue specificity Most highly expressed in the pancreas, placenta and spinal cord, with lower-level of expression in peripheral blood leukocytes, kidney, lung, fetal liver, stomach, small intestine, testes, spleen, thymus, adrenal glands and lymph nodes. In the adult brain, expressed in the superior frontal gyrus, putamen, caudate nucleus, cingulate gyrus, nucleus accumbens, hippocampus, pons and amygdala, as well as the hypothalamus and pituitary. Expression levels are higher in early (7-9 weeks) than term placentas. Expression levels were increased in both early placentas and molar pregnancies and were reduced in choriocarcinoma cells. Expressed at higher levels in first trimester trophoblasts than at term of gestation. Also found in the extravillous trophoblast suggesting endocrine/paracrine activation mechanism. thymus UBERON:0002370 Y Y ECO:0000269 PubMed:11457843 PubMed:15020672 PubMed:11385580 PubMed:11414709 PubMed:11387329 PubMed:12414911 UniProtKB AAE 9/3/2014 114 3300033857 curatus Q969F8 84634 KISS1R Homo sapiens 9606 Comment/tissue specificity Most highly expressed in the pancreas, placenta and spinal cord, with lower-level of expression in peripheral blood leukocytes, kidney, lung, fetal liver, stomach, small intestine, testes, spleen, thymus, adrenal glands and lymph nodes. In the adult brain, expressed in the superior frontal gyrus, putamen, caudate nucleus, cingulate gyrus, nucleus accumbens, hippocampus, pons and amygdala, as well as the hypothalamus and pituitary. Expression levels are higher in early (7-9 weeks) than term placentas. Expression levels were increased in both early placentas and molar pregnancies and were reduced in choriocarcinoma cells. Expressed at higher levels in first trimester trophoblasts than at term of gestation. Also found in the extravillous trophoblast suggesting endocrine/paracrine activation mechanism. lymph node BTO:0000784 Y Y ECO:0000269 PubMed:11457843 PubMed:15020672 PubMed:11385580 PubMed:11414709 PubMed:11387329 PubMed:12414911 UniProtKB AAE 9/3/2014 114 3300033858 curatus Q969F8 84634 KISS1R Homo sapiens 9606 Comment/tissue specificity Most highly expressed in the pancreas, placenta and spinal cord, with lower-level of expression in peripheral blood leukocytes, kidney, lung, fetal liver, stomach, small intestine, testes, spleen, thymus, adrenal glands and lymph nodes. In the adult brain, expressed in the superior frontal gyrus, putamen, caudate nucleus, cingulate gyrus, nucleus accumbens, hippocampus, pons and amygdala, as well as the hypothalamus and pituitary. Expression levels are higher in early (7-9 weeks) than term placentas. Expression levels were increased in both early placentas and molar pregnancies and were reduced in choriocarcinoma cells. Expressed at higher levels in first trimester trophoblasts than at term of gestation. Also found in the extravillous trophoblast suggesting endocrine/paracrine activation mechanism. lymph node UBERON:0000029 Y Y ECO:0000269 PubMed:11457843 PubMed:15020672 PubMed:11385580 PubMed:11414709 PubMed:11387329 PubMed:12414911 UniProtKB AAE 9/3/2014 114 3300033859 curatus Q969F8 84634 KISS1R Homo sapiens 9606 Comment/tissue specificity Most highly expressed in the pancreas, placenta and spinal cord, with lower-level of expression in peripheral blood leukocytes, kidney, lung, fetal liver, stomach, small intestine, testes, spleen, thymus, adrenal glands and lymph nodes. In the adult brain, expressed in the superior frontal gyrus, putamen, caudate nucleus, cingulate gyrus, nucleus accumbens, hippocampus, pons and amygdala, as well as the hypothalamus and pituitary. Expression levels are higher in early (7-9 weeks) than term placentas. Expression levels were increased in both early placentas and molar pregnancies and were reduced in choriocarcinoma cells. Expressed at higher levels in first trimester trophoblasts than at term of gestation. Also found in the extravillous trophoblast suggesting endocrine/paracrine activation mechanism. caudate nucleus BTO:0000211 Y Y ECO:0000269 PubMed:11457843 PubMed:15020672 PubMed:11385580 PubMed:11414709 PubMed:11387329 PubMed:12414911 UniProtKB AAE 9/3/2014 114 3300033860 curatus Q969F8 84634 KISS1R Homo sapiens 9606 Comment/tissue specificity Most highly expressed in the pancreas, placenta and spinal cord, with lower-level of expression in peripheral blood leukocytes, kidney, lung, fetal liver, stomach, small intestine, testes, spleen, thymus, adrenal glands and lymph nodes. In the adult brain, expressed in the superior frontal gyrus, putamen, caudate nucleus, cingulate gyrus, nucleus accumbens, hippocampus, pons and amygdala, as well as the hypothalamus and pituitary. Expression levels are higher in early (7-9 weeks) than term placentas. Expression levels were increased in both early placentas and molar pregnancies and were reduced in choriocarcinoma cells. Expressed at higher levels in first trimester trophoblasts than at term of gestation. Also found in the extravillous trophoblast suggesting endocrine/paracrine activation mechanism. caudate nucleus UBERON:0001873 Y Y ECO:0000269 PubMed:11457843 PubMed:15020672 PubMed:11385580 PubMed:11414709 PubMed:11387329 PubMed:12414911 UniProtKB AAE 9/3/2014 114 3300033861 curatus Q969F8 84634 KISS1R Homo sapiens 9606 Comment/tissue specificity Most highly expressed in the pancreas, placenta and spinal cord, with lower-level of expression in peripheral blood leukocytes, kidney, lung, fetal liver, stomach, small intestine, testes, spleen, thymus, adrenal glands and lymph nodes. In the adult brain, expressed in the superior frontal gyrus, putamen, caudate nucleus, cingulate gyrus, nucleus accumbens, hippocampus, pons and amygdala, as well as the hypothalamus and pituitary. Expression levels are higher in early (7-9 weeks) than term placentas. Expression levels were increased in both early placentas and molar pregnancies and were reduced in choriocarcinoma cells. Expressed at higher levels in first trimester trophoblasts than at term of gestation. Also found in the extravillous trophoblast suggesting endocrine/paracrine activation mechanism. cingulate gyrus BTO:0003976 Y Y ECO:0000269 PubMed:11457843 PubMed:15020672 PubMed:11385580 PubMed:11414709 PubMed:11387329 PubMed:12414911 UniProtKB AAE 9/3/2014 114 3300033862 curatus Q969F8 84634 KISS1R Homo sapiens 9606 Comment/tissue specificity Most highly expressed in the pancreas, placenta and spinal cord, with lower-level of expression in peripheral blood leukocytes, kidney, lung, fetal liver, stomach, small intestine, testes, spleen, thymus, adrenal glands and lymph nodes. In the adult brain, expressed in the superior frontal gyrus, putamen, caudate nucleus, cingulate gyrus, nucleus accumbens, hippocampus, pons and amygdala, as well as the hypothalamus and pituitary. Expression levels are higher in early (7-9 weeks) than term placentas. Expression levels were increased in both early placentas and molar pregnancies and were reduced in choriocarcinoma cells. Expressed at higher levels in first trimester trophoblasts than at term of gestation. Also found in the extravillous trophoblast suggesting endocrine/paracrine activation mechanism. cingulate gyrus UBERON:0002967 Y Y ECO:0000269 PubMed:11457843 PubMed:15020672 PubMed:11385580 PubMed:11414709 PubMed:11387329 PubMed:12414911 UniProtKB AAE 9/3/2014 114 3300033863 curatus Q969F8 84634 KISS1R Homo sapiens 9606 Comment/tissue specificity Most highly expressed in the pancreas, placenta and spinal cord, with lower-level of expression in peripheral blood leukocytes, kidney, lung, fetal liver, stomach, small intestine, testes, spleen, thymus, adrenal glands and lymph nodes. In the adult brain, expressed in the superior frontal gyrus, putamen, caudate nucleus, cingulate gyrus, nucleus accumbens, hippocampus, pons and amygdala, as well as the hypothalamus and pituitary. Expression levels are higher in early (7-9 weeks) than term placentas. Expression levels were increased in both early placentas and molar pregnancies and were reduced in choriocarcinoma cells. Expressed at higher levels in first trimester trophoblasts than at term of gestation. Also found in the extravillous trophoblast suggesting endocrine/paracrine activation mechanism. nucleus accumbens BTO:0001862 Y Y ECO:0000269 PubMed:11457843 PubMed:15020672 PubMed:11385580 PubMed:11414709 PubMed:11387329 PubMed:12414911 UniProtKB AAE 9/3/2014 114 3300033864 curatus Q969F8 84634 KISS1R Homo sapiens 9606 Comment/tissue specificity Most highly expressed in the pancreas, placenta and spinal cord, with lower-level of expression in peripheral blood leukocytes, kidney, lung, fetal liver, stomach, small intestine, testes, spleen, thymus, adrenal glands and lymph nodes. In the adult brain, expressed in the superior frontal gyrus, putamen, caudate nucleus, cingulate gyrus, nucleus accumbens, hippocampus, pons and amygdala, as well as the hypothalamus and pituitary. Expression levels are higher in early (7-9 weeks) than term placentas. Expression levels were increased in both early placentas and molar pregnancies and were reduced in choriocarcinoma cells. Expressed at higher levels in first trimester trophoblasts than at term of gestation. Also found in the extravillous trophoblast suggesting endocrine/paracrine activation mechanism. nucleus accumbens UBERON:0001882 Y Y ECO:0000269 PubMed:11457843 PubMed:15020672 PubMed:11385580 PubMed:11414709 PubMed:11387329 PubMed:12414911 UniProtKB AAE 9/3/2014 114 3300033865 curatus Q969F8 84634 KISS1R Homo sapiens 9606 Comment/tissue specificity Most highly expressed in the pancreas, placenta and spinal cord, with lower-level of expression in peripheral blood leukocytes, kidney, lung, fetal liver, stomach, small intestine, testes, spleen, thymus, adrenal glands and lymph nodes. In the adult brain, expressed in the superior frontal gyrus, putamen, caudate nucleus, cingulate gyrus, nucleus accumbens, hippocampus, pons and amygdala, as well as the hypothalamus and pituitary. Expression levels are higher in early (7-9 weeks) than term placentas. Expression levels were increased in both early placentas and molar pregnancies and were reduced in choriocarcinoma cells. Expressed at higher levels in first trimester trophoblasts than at term of gestation. Also found in the extravillous trophoblast suggesting endocrine/paracrine activation mechanism. hippocampus BTO:0000601 Y Y ECO:0000269 PubMed:11457843 PubMed:15020672 PubMed:11385580 PubMed:11414709 PubMed:11387329 PubMed:12414911 UniProtKB AAE 9/3/2014 114 3300033866 curatus Q969F8 84634 KISS1R Homo sapiens 9606 Comment/tissue specificity Most highly expressed in the pancreas, placenta and spinal cord, with lower-level of expression in peripheral blood leukocytes, kidney, lung, fetal liver, stomach, small intestine, testes, spleen, thymus, adrenal glands and lymph nodes. In the adult brain, expressed in the superior frontal gyrus, putamen, caudate nucleus, cingulate gyrus, nucleus accumbens, hippocampus, pons and amygdala, as well as the hypothalamus and pituitary. Expression levels are higher in early (7-9 weeks) than term placentas. Expression levels were increased in both early placentas and molar pregnancies and were reduced in choriocarcinoma cells. Expressed at higher levels in first trimester trophoblasts than at term of gestation. Also found in the extravillous trophoblast suggesting endocrine/paracrine activation mechanism. hippocampal formation UBERON:0002421 Y Y ECO:0000269 PubMed:11457843 PubMed:15020672 PubMed:11385580 PubMed:11414709 PubMed:11387329 PubMed:12414911 UniProtKB AAE 9/3/2014 114 3300033867 curatus Q969F8 84634 KISS1R Homo sapiens 9606 Comment/tissue specificity Most highly expressed in the pancreas, placenta and spinal cord, with lower-level of expression in peripheral blood leukocytes, kidney, lung, fetal liver, stomach, small intestine, testes, spleen, thymus, adrenal glands and lymph nodes. In the adult brain, expressed in the superior frontal gyrus, putamen, caudate nucleus, cingulate gyrus, nucleus accumbens, hippocampus, pons and amygdala, as well as the hypothalamus and pituitary. Expression levels are higher in early (7-9 weeks) than term placentas. Expression levels were increased in both early placentas and molar pregnancies and were reduced in choriocarcinoma cells. Expressed at higher levels in first trimester trophoblasts than at term of gestation. Also found in the extravillous trophoblast suggesting endocrine/paracrine activation mechanism. pons BTO:0001101 Y Y ECO:0000269 PubMed:11457843 PubMed:15020672 PubMed:11385580 PubMed:11414709 PubMed:11387329 PubMed:12414911 UniProtKB AAE 9/3/2014 114 3300033868 curatus Q969F8 84634 KISS1R Homo sapiens 9606 Comment/tissue specificity Most highly expressed in the pancreas, placenta and spinal cord, with lower-level of expression in peripheral blood leukocytes, kidney, lung, fetal liver, stomach, small intestine, testes, spleen, thymus, adrenal glands and lymph nodes. In the adult brain, expressed in the superior frontal gyrus, putamen, caudate nucleus, cingulate gyrus, nucleus accumbens, hippocampus, pons and amygdala, as well as the hypothalamus and pituitary. Expression levels are higher in early (7-9 weeks) than term placentas. Expression levels were increased in both early placentas and molar pregnancies and were reduced in choriocarcinoma cells. Expressed at higher levels in first trimester trophoblasts than at term of gestation. Also found in the extravillous trophoblast suggesting endocrine/paracrine activation mechanism. pons UBERON:0000988 Y Y ECO:0000269 PubMed:11457843 PubMed:15020672 PubMed:11385580 PubMed:11414709 PubMed:11387329 PubMed:12414911 UniProtKB AAE 9/3/2014 114 3300033869 curatus Q969F8 84634 KISS1R Homo sapiens 9606 Comment/tissue specificity Most highly expressed in the pancreas, placenta and spinal cord, with lower-level of expression in peripheral blood leukocytes, kidney, lung, fetal liver, stomach, small intestine, testes, spleen, thymus, adrenal glands and lymph nodes. In the adult brain, expressed in the superior frontal gyrus, putamen, caudate nucleus, cingulate gyrus, nucleus accumbens, hippocampus, pons and amygdala, as well as the hypothalamus and pituitary. Expression levels are higher in early (7-9 weeks) than term placentas. Expression levels were increased in both early placentas and molar pregnancies and were reduced in choriocarcinoma cells. Expressed at higher levels in first trimester trophoblasts than at term of gestation. Also found in the extravillous trophoblast suggesting endocrine/paracrine activation mechanism. amygdala BTO:0001042 Y Y ECO:0000269 PubMed:11457843 PubMed:15020672 PubMed:11385580 PubMed:11414709 PubMed:11387329 PubMed:12414911 UniProtKB AAE 9/3/2014 114 3300033870 curatus Q969F8 84634 KISS1R Homo sapiens 9606 Comment/tissue specificity Most highly expressed in the pancreas, placenta and spinal cord, with lower-level of expression in peripheral blood leukocytes, kidney, lung, fetal liver, stomach, small intestine, testes, spleen, thymus, adrenal glands and lymph nodes. In the adult brain, expressed in the superior frontal gyrus, putamen, caudate nucleus, cingulate gyrus, nucleus accumbens, hippocampus, pons and amygdala, as well as the hypothalamus and pituitary. Expression levels are higher in early (7-9 weeks) than term placentas. Expression levels were increased in both early placentas and molar pregnancies and were reduced in choriocarcinoma cells. Expressed at higher levels in first trimester trophoblasts than at term of gestation. Also found in the extravillous trophoblast suggesting endocrine/paracrine activation mechanism. amygdala UBERON:0001876 Y Y ECO:0000269 PubMed:11457843 PubMed:15020672 PubMed:11385580 PubMed:11414709 PubMed:11387329 PubMed:12414911 UniProtKB AAE 9/3/2014 114 3300033871 curatus Q969F8 84634 KISS1R Homo sapiens 9606 Comment/Involvement in disease Hypogonadotropic hypogonadism 8 with or without anosmia (HH8): A disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. In some cases, it is associated with non-reproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss. Anosmia or hyposmia is related to the absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism is due to deficiency in gonadotropin-releasing hormone and probably results from a failure of embryonic migration of gonadotropin-releasing hormone-synthesizing neurons. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism is referred to as Kallmann syndrome, whereas in the presence of a normal sense of smell, it has been termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH). MIM:614837 hypogonadism DOID:1924 The disease is caused by mutations affecting distinct genetic loci, including the gene represented in this entry. The genetics of hypogonadotropic hypogonadism involves various modes of transmission. Oligogenic inheritance has been reported in some patients carrying mutations in KISS1R as well as in other HH-associated genes including FGFR1 and IL17RD (PubMed:23643382). Y Y UniProtKB AAE 9/3/2014 114 3300033872 curatus Q969F8 84634 KISS1R Homo sapiens 9606 Comment/Involvement in disease Precocious puberty, central 1 (CPPB1): A condition defined as the development of secondary sexual characteristics in boys and girls at a chronological age that is 2.5 standard deviations below the mean age at onset of puberty in the population. Central precocious puberty results from premature activation of the hypothalamic-pituitary-gonadal axis. MIM:176400 The disease is caused by mutations affecting the gene represented in this entry. Y Y UniProtKB AAE 9/3/2014 114 3300033873 curatus Q9NYA1 8877 SPHK1 Homo sapiens 9606 EC 2.7.1.91 Y Y EC number UniProtKB AAE 9/3/2014 126 3300033875 curatus Q9NYA1 8877 SPHK1 Homo sapiens 9606 Comment/function Catalyzes the phosphorylation of sphingosine to form sphingosine 1-phosphate (SPP), a lipid mediator with both intra- and extracellular functions. Also acts on D-erythro-sphingosine and to a lesser extent sphinganine, but not other lipids, such as D,L-threo-dihydrosphingosine, N,N-dimethylsphingosine, diacylglycerol, ceramide, or phosphatidylinositol. Y Y ECO:0000269 PubMed:20577214 PubMed:23602659 UniProtKB AAE 9/3/2014 126 3300033876 curatus Q9NYA1 8877 SPHK1 Homo sapiens 9606 Comment/miscellaneous Sphingosine 1-phosphate stimulates TRAF2 E3 ubiquitin ligase activity, and promotes activation of NF-kappa-B in response to TNF signaling. Y Y ECO:0000006 PubMed:20577214 UniProtKB AAE 9/3/2014 126 3300033877 curatus Q9NYA1 8877 SPHK1 Homo sapiens 9606 Comment/subcellular location Cytoplasm cytoplasm GO:0005737 SL-0086 Y Y ECO:0000006 UniProtKB IDA/TAS AAE 9/3/2014 126 3300033878 curatus Q9NYA1 8877 SPHK1 Homo sapiens 9606 Comment/subcellular location Cell membrane plasma membrane GO:0005886 SL-0039 Y Y UniProtKB IDA evidence at GO AAE 9/3/2014 126 3300033880 curatus Q9NYA1 8877 SPHK1 Homo sapiens 9606 Comment/tissue specificity Widely expressed with highest levels in adult liver, kidney, heart and skeletal muscle. liver BTO:0000759 Y Y ECO:0000006 PubMed:10802064 UniProtKB AAE 9/3/2014 126 3300033882 curatus Q9NYA1 8877 SPHK1 Homo sapiens 9606 Comment/tissue specificity Widely expressed with highest levels in adult liver, kidney, heart and skeletal muscle. kidney BTO:0000671 Y Y ECO:0000269 PubMed:10802064 UniProtKB AAE 9/3/2014 126 3300033883 curatus Q9NYA1 8877 SPHK1 Homo sapiens 9606 Comment/tissue specificity Widely expressed with highest levels in adult liver, kidney, heart and skeletal muscle. kidney UBERON:0002113 Y Y ECO:0000269 PubMed:10802064 UniProtKB AAE 9/3/2014 126 3300033884 curatus Q9NYA1 8877 SPHK1 Homo sapiens 9606 Comment/tissue specificity Widely expressed with highest levels in adult liver, kidney, heart and skeletal muscle. heart BTO:0000562 Y Y ECO:0000269 PubMed:10802064 UniProtKB AAE 9/3/2014 126 3300033885 curatus Q9NYA1 8877 SPHK1 Homo sapiens 9606 Comment/tissue specificity Widely expressed with highest levels in adult liver, kidney, heart and skeletal muscle. heart UBERON:0000948 Y Y ECO:0000269 PubMed:10802064 UniProtKB AAE 9/3/2014 126 3300033886 curatus Q9NYA1 8877 SPHK1 Homo sapiens 9606 Comment/tissue specificity Widely expressed with highest levels in adult liver, kidney, heart and skeletal muscle. skeletal muscle BTO:0001103 Y Y ECO:0000269 PubMed:10802064 UniProtKB AAE 9/3/2014 126 3300033887 curatus Q9NYA1 8877 SPHK1 Homo sapiens 9606 Comment/tissue specificity Widely expressed with highest levels in adult liver, kidney, heart and skeletal muscle. skeletal muscle organ UBERON:0014892 Y Y ECO:0000269 PubMed:10802064 UniProtKB AAE 9/3/2014 126 3300033888 curatus P19438 7132 TNFRSF1A Homo sapiens 9606 Comment/subcellular location Secreted extracellular region GO:0005576 SL-0243 Y Y UniProtKB DGA, AAE 9/3/2014 188 3300033890 curatus P19438 7132 TNFRSF1A Homo sapiens 9606 Comment/Involvement in disease Familial hibernian fever (FHF): A hereditary periodic fever syndrome characterized by recurrent fever, abdominal pain, localized tender skin lesions and myalgia. Reactive amyloidosis is the main complication and occurs in 25% of cases. MIM:142680 The disease is caused by mutations affecting the gene represented in this entry. Y Y UniProtKB DGA, AAE 9/3/2014 188 3300033892 curatus P19438 7132 TNFRSF1A Homo sapiens 9606 Comment/Involvement in disease Multiple sclerosis 5 (MS5): A multifactorial, inflammatory, demyelinating disease of the central nervous system. Sclerotic lesions are characterized by perivascular infiltration of monocytes and lymphocytes and appear as indurated areas in pathologic specimens (sclerosis in plaques). The pathological mechanism is regarded as an autoimmune attack of the myelin sheath, mediated by both cellular and humoral immunity. Clinical manifestations include visual loss, extra-ocular movement disorders, paresthesias, loss of sensation, weakness, dysarthria, spasticity, ataxia and bladder dysfunction. Genetic and environmental factors influence susceptibility to the disease. MIM:614810 multiple sclerosis DOID:2377 ICD:340 Disease susceptibility is associated with variations affecting the gene represented in this entry. An intronic mutation affecting alternative splicing and skipping of exon 6 directs increased expression of isoform 4 a transcript encoding a C-terminally truncated protein which is secreted and may function as a TNF antagonist. Y Y UniProtKB DGA, AAE 9/3/2014 188 3300033893 curatus 5020 OXT Homo sapiens 9606 Comment/subcellular location Secreted extracellular region GO:0005576 SL-0243 Y Y UniProtKB DGA, AAE 9/3/2014 139 3300033896 curatus 551 AVP Homo sapiens 9606 Comment/subcellular location Secreted extracellular region GO:0005576 SL-0243 Y Y UniProtKB DGA, AAE 9/3/2014 161 3300033899 curatus 551 AVP Homo sapiens 9606 Comment/Involvement in disease Diabetes insipidus, neurohypophyseal (NDI): A disease characterized by persistent thirst, polydipsia and polyuria. Affected individuals are apparently normal at birth, but characteristically develop symptoms of vasopressin deficiency during childhood. MIM:125700 neurohypophyseal diabetes insipidus DOID:12388 The disease is caused by mutations affecting the gene represented in this entry. Y Y UniProtKB DGA, AAE 9/3/2014 161 3300033900 curatus 301 ANXA1 Homo sapiens 9606 Comment/subcellular location Nucleus nucleus GO:0005634 SL-0191 Y Y UniProtKB DGA, AAE 9/3/2014 188 3300033902 curatus 301 ANXA1 Homo sapiens 9606 Comment/subcellular location Cytoplasm cytoplasm GO:0005737 SL-0086 Y Y UniProtKB DGA, AAE 9/3/2014 188 3300033903 curatus P08949 4828 NMB Homo sapiens 9606 Comment/subcellular location Secreted extracellular region GO:0005576 SL-0243 Y Y UniProtKB AAE 9/3/2014 142 3300033908 curatus 2205 FCER1A Homo sapiens 9606 Comment/subcellular location Cell membrane;Single-pass type I membrane protein plasma membrane GO:0005886 SL-0039 Y Y UniProtKB DGA, AAE 9/3/2014 147 3300033910 curatus P14598 653361 NCF1 Homo sapiens 9606 Comment/subcellular location Cytosol cytosol GO:0005829 SL-0091 Y Y UniProtKB AAE 9/3/2014 176 3300033912 curatus P14598 653361 NCF1 Homo sapiens 9606 Comment/tissue specificity Detected in peripheral blood monocytes and neutrophils (at protein level). neutrophil BTO:0000130 neutrophil CL:0000775 Y Y ECO:0000269 PubMed:2550933 PubMed:2547247 UniProtKB AAE 9/3/2014 176 3300033914 curatus P14598 653361 NCF1 Homo sapiens 9606 Comment/Involvement in disease Granulomatous disease, chronic, cytochrome-b-positive 1, autosomal recessive (CGD1): A disorder characterized by the inability of neutrophils and phagocytes to kill microbes that they have ingested. Patients suffer from life-threatening bacterial/fungal infections. MIM:233700 chronic granulomatous disease DOID:3265 The disease is caused by mutations affecting the gene represented in this entry. Y Y UniProtKB AAE 9/3/2014 176 3300033915 curatus P31391 6754 SSTR4 Homo sapiens 9606 Comment/subcellular location Cell membrane;Multi-pass membrane protein plasma membrane GO:0005886 SL-0039 Y Y UniProtKB AAE 9/3/2014 140 3300033918 curatus P31391 6754 SSTR4 Homo sapiens 9606 Comment/tissue specificity Specifically expressed in fetal and adult brain, lung tissue, stomach, and in lesser quantities in the kidney, pituitary and adrenals. adrenal gland UBERON:0002369 Y Y UniProtKB AAE 9/3/2014 140 3300033919 curatus P31391 6754 SSTR4 Homo sapiens 9606 Comment/tissue specificity Specifically expressed in fetal and adult brain, lung tissue, stomach, and in lesser quantities in the kidney, pituitary and adrenals. stomach BTO:0001307 Y Y UniProtKB AAE 9/3/2014 140 3300033920 curatus P31391 6754 SSTR4 Homo sapiens 9606 Comment/tissue specificity Specifically expressed in fetal and adult brain, lung tissue, stomach, and in lesser quantities in the kidney, pituitary and adrenals. stomach UBERON:0000945 Y Y UniProtKB AAE 9/3/2014 140 3300033921 curatus P37288 552 AVPR1A Homo sapiens 9606 Comment/subcellular location Cell membrane;Multi-pass membrane protein plasma membrane GO:0005886 SL-0039 Y Y UniProtKB DGA, AAE 9/3/2014 137 3300033924 curatus 7097 TLR2 Homo sapiens 9606 Comment/tissue specificity Highly expressed in peripheral blood leukocytes, in particular in monocytes, in bone marrow, lymph node and in spleen. Also detected in lung and in fetal liver. Levels are low in other tissues. liver UBERON:0002107 fetus BTO:0000449 Y Y UniProtKB DGA, AAE 9/3/2014 159 3300033927 curatus 7097 TLR2 Homo sapiens 9606 Comment/tissue specificity Highly expressed in peripheral blood leukocytes, in particular in monocytes, in bone marrow, lymph node and in spleen. Also detected in lung and in fetal liver. Levels are low in other tissues. lymph node BTO:0000784 Y Y UniProtKB DGA, AAE 9/3/2014 159 3300033928 curatus 7097 TLR2 Homo sapiens 9606 Comment/tissue specificity Highly expressed in peripheral blood leukocytes, in particular in monocytes, in bone marrow, lymph node and in spleen. Also detected in lung and in fetal liver. Levels are low in other tissues. lymph node UBERON:0000029 Y Y UniProtKB DGA, AAE 9/3/2014 159 3300033929 curatus 7097 TLR2 Homo sapiens 9606 Comment/Involvement in disease Genetic variations in TLR2 are associated with susceptibility to leprosy [MIM:246300]. Leprosy is a chronic disease associated with depressed cellular (but not humoral) immunity, the bacterium requires a lower temperature than 37 degrees Celsius and thrives particularly in peripheral Schwann cells and macrophages. The Trp-677 polymorphism in the intracellular domain of TLR2 has a role in susceptibility to lepromatous leprosy. Wild-type TLR2 mediates CD14-enhanced Mycobacterium leprae-dependent activation of NFKB1, but TLR2 containing the Trp-677 polymorphism did not. The impaired function of the Trp-677 polymorphism provides a molecular mechanism for the poor cellular immune response associated with lepromatous leprosy. MIM:246300 leprosy DOID:1024 Y Y UniProtKB changed topic from polymorphism DGA, AAE 9/3/2014 159 3300033930 curatus Q96EB6 23411 SIRT1 Homo sapiens 9606 EC 3.5.1.- Y Y EC number UniProtKB DGA, AAE 9/3/2014 137 3300033931 curatus Q96EB6 23411 SIRT1 Homo sapiens 9606 Comment/subcellular location Cytoplasm cytoplasm GO:0005737 SL-0086 Y Y UniProtKB DGA, AAE 9/3/2014 137 3300033937 curatus Q96EB6 23411 SIRT1 Homo sapiens 9606 Comment/subcellular location Mitochondrion mitochondrion GO:0005739 SL-0173 Y Y UniProtKB DGA, AAE 9/3/2014 137 3300033938 curatus Q9NYA1 8877 SPHK1 Homo sapiens 9606 Comment/tissue specificity #16# ovary <43> ovary cancer cell BTO:0001023 2.7.1.91 Y Y ECO:0000033 Pubmed:17159597 BRENDA <43> Cuvillier, O.: Sphingosine kinase-1 - a potential therapeutic target in cancer. Anticancer Drugs (2007) 18, 105-110. {Pubmed:17159597} AAE 12/7/2011 1111 3300033956 curatus Q9NYA1 8877 SPHK1 Homo sapiens 9606 Comment/tissue specificity #16# uterus <43> uterine cancer cell BTO:0000257 2.7.1.91 Y Y ECO:0000033 Pubmed:17159597 BRENDA <43> Cuvillier, O.: Sphingosine kinase-1 - a potential therapeutic target in cancer. Anticancer Drugs (2007) 18, 105-110. {Pubmed:17159597} AAE 12/7/2011 1111 3300033958 curatus Q9NYA1 8877 SPHK1 Homo sapiens 9606 Comment/tissue specificity #16# hepatoma cell <43,52> hepatoma cell BTO:0000608 2.7.1.91 Y Y ECO:0000033 Pubmed:17159597 BRENDA <43> Cuvillier, O.: Sphingosine kinase-1 - a potential therapeutic target in cancer. Anticancer Drugs (2007) 18, 105-110. {Pubmed:17159597} AAE 12/7/2011 1111 3300033960 curatus Q9NYA1 8877 SPHK1 Homo sapiens 9606 Comment/tissue specificity #16# hepatoma cell <43,52> hepatoma cell BTO:0000608 2.7.1.91 Y Y ECO:0000033 Pubmed:17265031 BRENDA <52> Ma, M.M.; Chen, J.L.; Wang, G.G.; Wang, H.; Lu, Y.; Li, J.F.; Yi, J.; Yuan,Y.J.; Zhang, Q.W.; Mi, J.; Wang, L.Sh.; Duan, H.F.; Wu, C.T.: : Sphingosine kinase 1 participates in insulin signalling and regulates glucose metabolism and homeostasis in KK/Ay diabetic mice. Diabetologia (2007) 50, 891-900. {Pubmed:17265031} AAE 12/7/2011 1111 3300033961 curatus Q9NYA1 8877 SPHK1 Homo sapiens 9606 Comment/tissue specificity #16# melanoma cell <43> melanoma cell BTO:0000848 2.7.1.91 Y Y ECO:0000033 Pubmed:17159597 BRENDA <43> Cuvillier, O.: Sphingosine kinase-1 - a potential therapeutic target in cancer. Anticancer Drugs (2007) 18, 105-110. {Pubmed:17159597} AAE 12/7/2011 1111 3300033962 curatus Q9NYA1 8877 SPHK1 Homo sapiens 9606 Comment/tissue specificity #16# lung cancer cell <43> lung cancer cell BTO:0000551 2.7.1.91 Y Y ECO:0000033 Pubmed:17159597 BRENDA <43> Cuvillier, O.: Sphingosine kinase-1 - a potential therapeutic target in cancer. Anticancer Drugs (2007) 18, 105-110. {Pubmed:17159597} AAE 12/7/2011 1111 3300033963 curatus Q9NYA1 8877 SPHK1 Homo sapiens 9606 Comment/Involvement in disease #16# prostate cancer cell <46> prostate cancer DOID:10283 2.7.1.91 Y Y ECO:0000006 Pubmed:16516161 PENTACON <46> Akao, Y.; Banno, Y.; Nakagawa, Y.; Hasegawa, N.; Kim, T.J.; Murate, T.; Igarashi, Y.; Nozawa, Y.: High expression of sphingosine kinase 1 and S1P receptors in chemotherapy-resistant prostate cancer PC3 cells and their camptothecin-induced up-regulation. Biochem. Biophys. Res. Commun. (2006) 342, 1284-1290. {Pubmed:16516161} AAE 12/7/2011 1111 3300033964 curatus Q9NYA1 8877 SPHK1 Homo sapiens 9606 Comment/tissue specificity #16# rectum <43> rectal cancer cell BTO:0000193 2.7.1.91 Y Y ECO:0000033 Pubmed:17159597 BRENDA <43> Cuvillier, O.: Sphingosine kinase-1 - a potential therapeutic target in cancer. Anticancer Drugs (2007) 18, 105-110. {Pubmed:17159597} AAE 12/7/2011 1111 3300033965 curatus Q9NYA1 8877 SPHK1 Homo sapiens 9606 Comment/tissue specificity #16# neuroblastoma cell <43> neuroblastoma cell BTO:0000931 2.7.1.91 Y Y ECO:0000033 Pubmed:17159597 BRENDA <43> Cuvillier, O.: Sphingosine kinase-1 - a potential therapeutic target in cancer. Anticancer Drugs (2007) 18, 105-110. {Pubmed:17159597} AAE 12/7/2011 1111 3300033967 curatus Q9NYA1 8877 SPHK1 Homo sapiens 9606 Comment/tissue specificity #16# breast cancer cell <43> breast cancer cell BTO:0000150 2.7.1.91 Y Y ECO:0000033 Pubmed:17159597 BRENDA <43> Cuvillier, O.: Sphingosine kinase-1 - a potential therapeutic target in cancer. Anticancer Drugs (2007) 18, 105-110. {Pubmed:17159597} AAE 12/7/2011 1111 3300033968 curatus Q9NYA1 8877 SPHK1 Homo sapiens 9606 Comment/tissue specificity #16# gastric cancer cell <43> gastric cancer cell BTO:0000498 2.7.1.91 Y Y ECO:0000033 Pubmed:17159597 BRENDA <43> Cuvillier, O.: Sphingosine kinase-1 - a potential therapeutic target in cancer. Anticancer Drugs (2007) 18, 105-110. {Pubmed:17159597} AAE 12/7/2011 1111 3300033969 curatus Q9NYA1 8877 SPHK1 Homo sapiens 9606 Comment/tissue specificity #16# pancreatic cancer cell <43> pancreatic cancer cell BTO:0000584 2.7.1.91 Y Y ECO:0000033 Pubmed:17159597 BRENDA <43> Cuvillier, O.: Sphingosine kinase-1 - a potential therapeutic target in cancer. Anticancer Drugs (2007) 18, 105-110. {Pubmed:17159597} AAE 12/7/2011 1111 3300033970 curatus Q9NYA1 8877 SPHK1 Homo sapiens 9606 Comment/tissue specificity #16# cervical carcinoma cell <43> cervical carcinoma cell BTO:0000180 2.7.1.91 Y Y ECO:0000033 Pubmed:17159597 BRENDA <43> Cuvillier, O.: Sphingosine kinase-1 - a potential therapeutic target in cancer. Anticancer Drugs (2007) 18, 105-110. {Pubmed:17159597} AAE 12/7/2011 1111 3300033971 curatus Q9NYA1 8877 SPHK1 Homo sapiens 9606 Comment/Involvement in disease #16# colon cancer cell <43,67> colon adenocarcinoma DOID:234 2.7.1.91 Y Y ECO:0000033 Pubmed:17159597 BRENDA <43> Cuvillier, O.: Sphingosine kinase-1 - a potential therapeutic target in cancer. Anticancer Drugs (2007) 18, 105-110. {Pubmed:17159597} AAE 12/7/2011 1111 3300033973 curatus Q9NYA1 8877 SPHK1 Homo sapiens 9606 Comment/tissue specificity #16# colon cancer cell <43,67> 2.7.1.91 Y Y ECO:0000006 Pubmed:16980623 BRENDA <67> Kohno, M.; Momoi, M.; Oo, M.L.; Paik, J.H.; Lee, Y.M.; Venkataraman, K.; Ai, Y.; Ristimaki, A.OP.; Fyrst, H.; Sano, H.; Rosenberg, D.; Saba, J.D.; Proia, R.L.; Hla1, T.: Intracellular role for sphingosine kinase 1 in intestinal adenoma cell proliferation. Mol. Cell. Biol. (2006) 26, 7211-7223. {Pubmed:16980623} AAE 12/7/2011 1111 3300033974 curatus Q9NYA1 8877 SPHK1 Homo sapiens 9606 Comment/tissue specificity #16# epidermal carcinoma cell <43> squamous cell carcinoma cell BTO:0001289 2.7.1.91 Y Y ECO:0000033 Pubmed:17159597 BRENDA <43> Cuvillier, O.: Sphingosine kinase-1 - a potential therapeutic target in cancer. Anticancer Drugs (2007) 18, 105-110. {Pubmed:17159597} AAE 12/7/2011 1111 3300033975 curatus Q9NYA1 8877 SPHK1 Homo sapiens 9606 Comment/tissue specificity #16# SMMC-7721 cell <52> SMMC-7721 cell BTO:0003227 2.7.1.91 Y Y ECO:0000033 Pubmed:17265031 BRENDA <52> Ma, M.M.; Chen, J.L.; Wang, G.G.; Wang, H.; Lu, Y.; Li, J.F.; Yi, J.; Yuan,Y.J.; Zhang, Q.W.; Mi, J.; Wang, L.Sh.; Duan, H.F.; Wu, C.T.: : Sphingosine kinase 1 participates in insulin signalling and regulates glucose metabolism and homeostasis in KK/Ay diabetic mice. Diabetologia (2007) 50, 891-900. {Pubmed:17265031} AAE 12/7/2011 1111 3300033976 curatus Q9NYA1 8877 SPHK1 Homo sapiens 9606 Comment/tissue specificity #16# coronary artery smooth muscle cell <48> coronary artery smooth muscle cell BTO:0005101 2.7.1.91 Y Y ECO:0000006 Pubmed:17482291 BRENDA <48> Francy, J.M.; Nag, A.; Conroy, E.J.; Hengst, J.A.; Yun, J.K.: Sphingosine kinase 1 expression is regulated by signalling through PI3K, AKT2, and mTOR in human coronary artery smooth muscle cells. Biochim. Biophys. Acta (2007) 1769, 253-265. {Pubmed:17482291} AAE 12/7/2011 1111 3300033977 curatus Q9NYA1 8877 SPHK1 Homo sapiens 9606 Comment/tissue specificity #16,17# WI-38 cell <42> WI-38 cell BTO:0000458 2.7.1.91 Y Y ECO:0000006 Pubmed:17641298 BRENDA <42> Kono, Y.; Nishiuma, T.; Nishimura, Y.; Kotani, Y.; Okada, T.; Nakamura, S.; Yokoyama, M.: Sphingosine kinase 1 regulates differentiation of human and mouse lung fibroblasts mediated by TGF-beta1. Am. J. Respir. Cell Mol. Biol. (2007) 37, 395-404. {Pubmed:17641298} AAE 12/7/2011 1111 3300033979 curatus Q9NYA1 8877 SPHK1 Homo sapiens 9606 Comment/tissue specificity #16,17# EaHy 926 cell <47> EAhy 926 cell BTO:0000396 2.7.1.91 Y Y ECO:0000006 Pubmed:16571380 BRENDA <47> Huwiler, A.; Doell, F.; Ren, S.; Klawitter, S.; Greening, A.; Roemer, I.; Bubnova, S.; Reinsberg, L.; Pfeilschifter, J.: Histamine increases sphingosine kinase-1 expression and activity in the human arterial endothelial cell line EA.hy 926 by a PKC-alpha-dependent mechanism. Biochim. Biophys. Acta (2006) 1761, 367-376. {Pubmed:16571380} AAE 12/7/2011 1111 3300033980 curatus Q9NYA1 8877 SPHK1 Homo sapiens 9606 Comment/tissue specificity #16,17# brain tumor cell <59> glioma cell line BTO:0000711 2.7.1.91 Y Y ECO:0000033 Pubmed:16916784 BRENDA <59> Leclerq, T.M.; Pitson, S.M: Cellular signalling by sphingosine kinase and sphingosine 1-phosphate. IUBMB Life (2006) 58, 467-472. {Pubmed:16916784} AAE 12/7/2011 1111 3300033981 curatus Q9NYA1 8877 SPHK1 Homo sapiens 9606 Comment/tissue specificity #16,17,21# lung fibroblast <42> lung fibroblast BTO:0000764 2.7.1.91 Y Y ECO:0000006 Pubmed:17641298 BRENDA <42> Kono, Y.; Nishiuma, T.; Nishimura, Y.; Kotani, Y.; Okada, T.; Nakamura, S.; Yokoyama, M.: Sphingosine kinase 1 regulates differentiation of human and mouse lung fibroblasts mediated by TGF-beta1. Am. J. Respir. Cell Mol. Biol. (2007) 37, 395-404. {Pubmed:17641298} AAE 12/7/2011 1111 3300033982 curatus Q9NYA1 8877 SPHK1 Homo sapiens 9606 Comment/tissue specificity #4,16# small intestine (#4# isozymes SPHK1 and SPHK2 <30>; #4# low activity, isozymes SPHK1 and SPHK2 <36>) <30,36,43> small intestine adenoma cell BTO:0003384 2.7.1.91 Y Y ECO:0000033 Pubmed:17159597 BRENDA <43> Cuvillier, O.: Sphingosine kinase-1 - a potential therapeutic target in cancer. Anticancer Drugs (2007) 18, 105-110. {Pubmed:17159597} AAE 12/7/2011 1111 3300033985 curatus Q9NYA1 8877 SPHK1 Homo sapiens 9606 Comment/tissue specificity #4,16,21# macrophage (#4# from bone marrow. N,N-dimethyl-D-erythro-sphingosine inhibits osteoclastogenesis a sphingosine kinase independently of sphingosine kinase <75>) <63,75> macrophage BTO:0000801 2.7.1.91 Y Y ECO:0000006 Pubmed:17519232 BRENDA <63> Kusner, D.J.; Thompson, C.R.; Melrose, N.A.; Pitson, S.M.; Obeid, L.M.; Iyer, S.S.: The localization and activity of sphingosine kinase 1 are coordinately regulated with actin cytoskeletal dynamics in macrophages. J. Biol. Chem. (2007) 282, 23147-23162. {Pubmed:17519232} AAE 12/7/2011 1111 3300033991 curatus Q9NYA1 8877 SPHK1 Homo sapiens 9606 Comment/tissue specificity #4,5,16,17# endothelial cell (#4# dermal microvascular endothelial cell <112>; #5# vascular and aorta endothelial cell <81>) <12,37,81,89,112> endothelial cell BTO:0001176 2.7.1.91 Y Y ECO:0000006 Pubmed:13129923 BRENDA <37> Billich, A.; Bornancin, F.; Devay, P.; Mechtcheriakova, D.; Urtz, N.; Baumruker, T.: Phosphorylation of the immunomodulatory drug FTY720 by sphingosine kinases. J. Biol. Chem. (2003) 278, 47408-47415. {Pubmed:13129923} AAE 12/7/2011 1111 3300033994 curatus Q9NYA1 8877 SPHK1 Homo sapiens 9606 Comment/tissue specificity #4,5,16,18,21,22,23,25# lung (#18,22# high activity of isozyme SPHK1, low activity of isozyme SPHK2 <37>; #4# high activity, isozymes SPHK1 and SPHK2 <30,36>; #25# expression of long-rSK1 mRNA <69>) <30,33,36,37,43,60,61,69,79,100> non-small cell lung cancer cell BTO:0002058 2.7.1.91 Y Y ECO:0000033 Pubmed:17159597 BRENDA <43> Cuvillier, O.: Sphingosine kinase-1 - a potential therapeutic target in cancer. Anticancer Drugs (2007) 18, 105-110. {Pubmed:17159597} AAE 12/7/2011 1111 3300033997 curatus Q9NYA1 8877 SPHK1 Homo sapiens 9606 Comment/tissue specificity #4,5,16,18,21,22,23,25# lung (#18,22# high activity of isozyme SPHK1, low activity of isozyme SPHK2 <37>; #4# high activity, isozymes SPHK1 and SPHK2 <30,36>; #25# expression of long-rSK1 mRNA <69>) <30,33,36,37,43,60,61,69,79,100> lung BTO:0000763 2.7.1.91 Y Y ECO:0000033 Pubmed:16584625 BRENDA <60> Taha, T.A.; Hannun, Y.A.; Obeid, L.M.: Sphingosine kinase: biochemical and cellular regulation and role in disease. J. Biochem. Mol. Biol. (2006) 39, 113-131. {Pubmed:16584625} AAE 12/7/2011 1111 3300033999 curatus Q9NYA1 8877 SPHK1 Homo sapiens 9606 Comment/tissue specificity #4,5,16,18,21,22,23,25# lung (#18,22# high activity of isozyme SPHK1, low activity of isozyme SPHK2 <37>; #4# high activity, isozymes SPHK1 and SPHK2 <30,36>; #25# expression of long-rSK1 mRNA <69>) <30,33,36,37,43,60,61,69,79,100> lung UBERON:0002048 2.7.1.91 Y Y ECO:0000033 Pubmed:16584625 BRENDA <60> Taha, T.A.; Hannun, Y.A.; Obeid, L.M.: Sphingosine kinase: biochemical and cellular regulation and role in disease. J. Biochem. Mol. Biol. (2006) 39, 113-131. {Pubmed:16584625} AAE 12/7/2011 1111 3300034000 curatus Q9NYA1 8877 SPHK1 Homo sapiens 9606 Comment/tissue specificity #4,5,6,16,18,21,22,23,25# kidney (#18,22# isozyme SPHK1 and isozyme SPHK2 <37>; #4# isozymes SPHK1 and SPHK2 <36>; #25# expression of long-rSK1 mRNA <69>) <16,19,30,33,36,37,43,60,61,69,86,124> kidney cancer cell BTO:0000680 2.7.1.91 Y Y ECO:0000033 Pubmed:17159597 BRENDA <43> Cuvillier, O.: Sphingosine kinase-1 - a potential therapeutic target in cancer. Anticancer Drugs (2007) 18, 105-110. {Pubmed:17159597} AAE 12/7/2011 1111 3300034005 curatus Q9NYA1 8877 SPHK1 Homo sapiens 9606 Comment/tissue specificity #4,5,6,16,18,21,22,23,25# kidney (#18,22# isozyme SPHK1 and isozyme SPHK2 <37>; #4# isozymes SPHK1 and SPHK2 <36>; #25# expression of long-rSK1 mRNA <69>) <16,19,30,33,36,37,43,60,61,69,86,124> kidney BTO:0000671 2.7.1.91 Y Y ECO:0000033 Pubmed:16584625 BRENDA <60> Taha, T.A.; Hannun, Y.A.; Obeid, L.M.: Sphingosine kinase: biochemical and cellular regulation and role in disease. J. Biochem. Mol. Biol. (2006) 39, 113-131. {Pubmed:16584625} AAE 12/7/2011 1111 3300034007 curatus Q9NYA1 8877 SPHK1 Homo sapiens 9606 Comment/tissue specificity #4,5,6,16,18,21,22,23,25# kidney (#18,22# isozyme SPHK1 and isozyme SPHK2 <37>; #4# isozymes SPHK1 and SPHK2 <36>; #25# expression of long-rSK1 mRNA <69>) <16,19,30,33,36,37,43,60,61,69,86,124> kidney UBERON:0002113 2.7.1.91 Y Y ECO:0000033 Pubmed:16584625 BRENDA <60> Taha, T.A.; Hannun, Y.A.; Obeid, L.M.: Sphingosine kinase: biochemical and cellular regulation and role in disease. J. Biochem. Mol. Biol. (2006) 39, 113-131. {Pubmed:16584625} AAE 12/7/2011 1111 3300034008 curatus Q9NYA1 8877 SPHK1 Homo sapiens 9606 Comment/tissue specificity #4,5,6,9,16,18,21,22,23,25# brain (#4# isozymes SPHK1 and SPHK2 <36>; #4# major isozyme is SPHK1 <30>; #18,22# quite low activity of isozyme SPHK1 and isozyme SPHK2 <37>; #4,5# white matter, cerebellum, cerebrum, red nucleus, cerebral peduncle <33>; #25# expression of long-rSK1 mRNA <69>) <5,7,19,30,33,36,37,43,60,61,69> brain cancer cell BTO:0001573 2.7.1.91 Y Y ECO:0000033 Pubmed:17159597 BRENDA <43> Cuvillier, O.: Sphingosine kinase-1 - a potential therapeutic target in cancer. Anticancer Drugs (2007) 18, 105-110. {Pubmed:17159597} AAE 12/7/2011 1111 3300034011 curatus Q9NYA1 8877 SPHK1 Homo sapiens 9606 Comment/tissue specificity #4,5,6,9,16,18,21,22,23,25# brain (#4# isozymes SPHK1 and SPHK2 <36>; #4# major isozyme is SPHK1 <30>; #18,22# quite low activity of isozyme SPHK1 and isozyme SPHK2 <37>; #4,5# white matter, cerebellum, cerebrum, red nucleus, cerebral peduncle <33>; #25# expression of long-rSK1 mRNA <69>) <5,7,19,30,33,36,37,43,60,61,69> brain BTO:0000142 2.7.1.91 Y Y ECO:0000033 Pubmed:16584625 BRENDA <60> Taha, T.A.; Hannun, Y.A.; Obeid, L.M.: Sphingosine kinase: biochemical and cellular regulation and role in disease. J. Biochem. Mol. Biol. (2006) 39, 113-131. {Pubmed:16584625} AAE 12/7/2011 1111 3300034013 curatus Q9NYA1 8877 SPHK1 Homo sapiens 9606 Comment/tissue specificity #4,5,6,9,16,18,21,22,23,25# brain (#4# isozymes SPHK1 and SPHK2 <36>; #4# major isozyme is SPHK1 <30>; #18,22# quite low activity of isozyme SPHK1 and isozyme SPHK2 <37>; #4,5# white matter, cerebellum, cerebrum, red nucleus, cerebral peduncle <33>; #25# expression of long-rSK1 mRNA <69>) <5,7,19,30,33,36,37,43,60,61,69> brain UBERON:0000955 2.7.1.91 Y Y ECO:0000033 Pubmed:16584625 BRENDA <60> Taha, T.A.; Hannun, Y.A.; Obeid, L.M.: Sphingosine kinase: biochemical and cellular regulation and role in disease. J. Biochem. Mol. Biol. (2006) 39, 113-131. {Pubmed:16584625} AAE 12/7/2011 1111 3300034014 curatus Q9NYA1 8877 SPHK1 Homo sapiens 9606 Comment/tissue specificity #5,16# monocyte (#5# secretion of sphinganine 1-phosphate <36>) <36,65> monocyte BTO:0000876 2.7.1.91 Y Y ECO:0000006 Pubmed:16575915 BRENDA <65> Zhi, L.; Leung, B.P.; Melendez, A.J.: Sphingosine kinase 1 regulates pro inflammatory responses triggered by TNFalpha in primary human monocytes. J. Cell. Physiol. (2006) 208, 109-115. {Pubmed:16575915} AAE 12/7/2011 1111 3300034015 curatus Q9NYA1 8877 SPHK1 Homo sapiens 9606 Comment/tissue specificity #5,16# leukemia cell <43,116> leukemia cell BTO:0001271 2.7.1.91 Y Y ECO:0000033 Pubmed:17159597 BRENDA <43> Cuvillier, O.: Sphingosine kinase-1 - a potential therapeutic target in cancer. Anticancer Drugs (2007) 18, 105-110. {Pubmed:17159597} AAE 12/7/2011 1111 3300034016 curatus Q9NYA1 8877 SPHK1 Homo sapiens 9606 Comment/Involvement in disease #5,16# breast <43,83> breast adenocarcinoma DOID:3458 2.7.1.91 Y Y ECO:0000033 Pubmed:17159597 BRENDA <43> Cuvillier, O.: Sphingosine kinase-1 - a potential therapeutic target in cancer. Anticancer Drugs (2007) 18, 105-110. {Pubmed:17159597} AAE 12/7/2011 1111 3300034018 curatus Q9NYA1 8877 SPHK1 Homo sapiens 9606 Comment/tissue specificity #5,16# THP-1 cell (#5# in the cultured synovial fibroblasts from rheumatoid arthritis patients, SPHK2 is more highly expressed than in the human macrophage cell line, THP-1 and human dermal fibroblasts <132>) <63,107,132> THP-1 cell BTO:0001370 2.7.1.91 Y Y ECO:0000006 Pubmed:17519232 BRENDA <63> Kusner, D.J.; Thompson, C.R.; Melrose, N.A.; Pitson, S.M.; Obeid, L.M.; Iyer, S.S.: The localization and activity of sphingosine kinase 1 are coordinately regulated with actin cytoskeletal dynamics in macrophages. J. Biol. Chem. (2007) 282, 23147-23162. {Pubmed:17519232} AAE 12/7/2011 1111 3300034019 curatus Q9NYA1 8877 SPHK1 Homo sapiens 9606 Comment/tissue specificity #5,16# PC-3 cell <46,91,115,127> PC-3 cell BTO:0001061 2.7.1.91 Y Y ECO:0000006 Pubmed:16516161 BRENDA <46> Akao, Y.; Banno, Y.; Nakagawa, Y.; Hasegawa, N.; Kim, T.J.; Murate, T.; Igarashi, Y.; Nozawa, Y.: High expression of sphingosine kinase 1 and S1P receptors in chemotherapy-resistant prostate cancer PC3 cells and their camptothecin-induced up-regulation. Biochem. Biophys. Res. Commun. (2006) 342, 1284-1290. {Pubmed:16516161} AAE 12/7/2011 1111 3300034020 curatus Q9NYA1 8877 SPHK1 Homo sapiens 9606 Comment/tissue specificity #5,16# prostate adenocarcinoma cell (#5# sphingolipids and the sphingosine kinase inhibitor, SKI II, induce BCL-2-independent apoptosis in human prostatic adenocarcinoma cells <77>) <43,77> prostate adenocarcinoma cell BTO:0002021 2.7.1.91 Y Y ECO:0000033 Pubmed:17159597 BRENDA <43> Cuvillier, O.: Sphingosine kinase-1 - a potential therapeutic target in cancer. Anticancer Drugs (2007) 18, 105-110. {Pubmed:17159597} AAE 12/7/2011 1111 3300034021 curatus Q9NYA1 8877 SPHK1 Homo sapiens 9606 Comment/tissue specificity #5,16,17# platelet <32,60> blood platelet BTO:0000132 2.7.1.91 Y Y ECO:0000033 Pubmed:16584625 BRENDA <60> Taha, T.A.; Hannun, Y.A.; Obeid, L.M.: Sphingosine kinase: biochemical and cellular regulation and role in disease. J. Biochem. Mol. Biol. (2006) 39, 113-131. {Pubmed:16584625} AAE 12/7/2011 1111 3300034022 curatus Q9NYA1 8877 SPHK1 Homo sapiens 9606 Comment/tissue specificity #5,16,17,21# MCF-7 cell (#5# use in mouse xenograft model <114>) <43,53,58,104,114> MCF-7 cell BTO:0000093 2.7.1.91 Y Y ECO:0000033 Pubmed:17159597 BRENDA <43> Cuvillier, O.: Sphingosine kinase-1 - a potential therapeutic target in cancer. Anticancer Drugs (2007) 18, 105-110. {Pubmed:17159597} AAE 12/7/2011 1111 3300034023 curatus Q9NYA1 8877 SPHK1 Homo sapiens 9606 Comment/tissue specificity #5,16,17,21# MCF-7 cell (#5# use in mouse xenograft model <114>) <43,53,58,104,114> MCF-7 cell BTO:0000093 2.7.1.91 Y Y ECO:0000006 Pubmed:17639048 BRENDA <53> Doell, F.; Pfeilschifter, J.; Huwiler, A.: Prolactin upregulates sphingosine kinase-1 expression and activity in the human breast cancer cell line MCF7 and triggers enhanced proliferation and migration. Endocr. Relat. Cancer (2007) 14, 325-335. {Pubmed:17639048} AAE 12/7/2011 1111 3300034024 curatus P43405 6850 SYK Homo sapiens 9606 Comment/tissue specificity #18,88# B-cell (#18# levels of Jak2 protein expression increased significantly in mitogen- and anti-IgM-stimulated B cells and to a lesser degree in activated T cells <4>) <4,175> B-lymphocyte BTO:0000776 2.7.10.2 Y Y ECO:0000006 Pubmed:8163536 BRENDA <175> Law, C.L.; Sidorenko, S.P.; Chandran, K.A.; Draves, K.E.; Chan, A.C.; Weiss, A.; Edelhoff, S.; Disteche, C.M.; Clark, E.A.: Molecular cloning of human Syk. A B cell protein-tyrosine kinase associated with the surface immunoglobulin M-B cell receptor complex. J. Biol. Chem. (1994) 269, 12310-12319. {Pubmed:8163536} AAE 12/7/2011 1111 3300034026 curatus P43405 6850 SYK Homo sapiens 9606 Comment/tissue specificity #6,41,88# THP-1 cell (#6# a myelocytic cell line <443>; #6# untreated or stimulated by R848 or CpG-DNA <441>) <441,443,475,494> THP-1 cell BTO:0001370 2.7.10.2 Y Y ECO:0000006 Pubmed:18295889 BRENDA <494> Parsa, K.V.; Butchar, J.P.; Rajaram, M.V.; Cremer, T.J.; Tridandapani, S.: The tyrosine kinase Syk promotes phagocytosis of Francisella through the activation of Erk. Mol. Immunol. (2008) 45, 3012-3021. {Pubmed:18295889} AAE 12/7/2011 1111 3300034031 curatus P43405 6850 SYK Homo sapiens 9606 Comment/tissue specificity #6,88# plasma cell (#6# primary CD138+ plasma cell <513>) <175,513> plasma cell BTO:0000392 2.7.10.2 Y Y ECO:0000006 Pubmed:8163536 BRENDA <175> Law, C.L.; Sidorenko, S.P.; Chandran, K.A.; Draves, K.E.; Chan, A.C.; Weiss, A.; Edelhoff, S.; Disteche, C.M.; Clark, E.A.: Molecular cloning of human Syk. A B cell protein-tyrosine kinase associated with the surface immunoglobulin M-B cell receptor complex. J. Biol. Chem. (1994) 269, 12310-12319. {Pubmed:8163536} AAE 12/7/2011 1111 3300034032 curatus P43405 6850 SYK Homo sapiens 9606 Comment/tissue specificity #67,72,88# leukemia cell (#67# K-562 leukemia cells <123>; #88# basophilic leukemia cell line KU812 <178>; #72# K562 human leukemia cell line <147>) <123,147,178> basophilic leukemia cell line BTO:0001018 2.7.10.2 Y Y ECO:0000006 Pubmed:7513161 BRENDA <178> Yagi, S.; Suzuki, K.; Hasegawa, A.; Okumura, K.; Ra, C.: Cloning of the cDNA for the deleted syk kinase homologous to ZAP-70 from human basophilic leukemia cell line (KU812). Biochem. Biophys. Res. Commun. (1994) 200, 28-34. {Pubmed:7513161} AAE 12/7/2011 1111 3300034033 curatus P43405 6850 SYK Homo sapiens 9606 Comment/tissue specificity #67,72,88# leukemia cell (#67# K-562 leukemia cells <123>; #88# basophilic leukemia cell line KU812 <178>; #72# K562 human leukemia cell line <147>) <123,147,178> KU812 cell CLO:0007125 2.7.10.2 Y Y ECO:0000006 Pubmed:7513161 BRENDA <178> Yagi, S.; Suzuki, K.; Hasegawa, A.; Okumura, K.; Ra, C.: Cloning of the cDNA for the deleted syk kinase homologous to ZAP-70 from human basophilic leukemia cell line (KU812). Biochem. Biophys. Res. Commun. (1994) 200, 28-34. {Pubmed:7513161} AAE 12/7/2011 1111 3300034034 curatus Q9NYA1 8877 SPHK1 Homo sapiens 9606 Comment/tissue specificity Widely expressed with highest levels in adult liver, kidney, heart and skeletal muscle. liver UBERON:0002107 Y Y ECO:0000006 PubMed:10802064 UniProtKB #Copied from SPHK1, anno: 33882 AAE 3300034552 curatus Q9NYA1 8877 SPHK1 Homo sapiens 9606 Comment/tissue specificity Widely expressed with highest levels in adult liver, kidney, heart and skeletal muscle. small intestine BTO:0000651 Y Y ECO:0000006 PubMed:10802064 UniProtKB #Copied from SPHK1, anno: 33882 AAE 3300034553 curatus Q9NYA1 8877 SPHK1 Homo sapiens 9606 Comment/tissue specificity Widely expressed with highest levels in adult liver, kidney, heart and skeletal muscle. small intestine UBERON:0002108 Y Y ECO:0000006 PubMed:10802064 UniProtKB #Copied from SPHK1, anno: 33882 #Copied from SPHK1, anno: 34552 AAE 3300034554 curatus Q9NYA1 8877 SPHK1 Homo sapiens 9606 Comment/tissue specificity Widely expressed with highest levels in adult liver, kidney, heart and skeletal muscle. placenta BTO:0001078 Y Y ECO:0000006 PubMed:10802064 UniProtKB #Copied from SPHK1, anno: 33882 #Copied from SPHK1, anno: 34553 AAE 3300034555 curatus Q9NYA1 8877 SPHK1 Homo sapiens 9606 Comment/tissue specificity Widely expressed with highest levels in adult liver, kidney, heart and skeletal muscle. placenta UBERON:0001987 Y Y ECO:0000006 PubMed:10802064 UniProtKB #Copied from SPHK1, anno: 33882 #Copied from SPHK1, anno: 34552 #Copied from SPHK1, anno: 34554 AAE 3300034556 curatus Q9NYA1 8877 SPHK1 Homo sapiens 9606 Comment/tissue specificity Widely expressed with highest levels in adult liver, kidney, heart and skeletal muscle. lung UBERON:0002048 Y Y ECO:0000006 PubMed:10802064 UniProtKB #Copied from SPHK1, anno: 33882 #Copied from SPHK1, anno: 34553 #Copied from SPHK1, anno: 34555 AAE 3300034557 curatus Q9NYA1 8877 SPHK1 Homo sapiens 9606 Comment/tissue specificity Widely expressed with highest levels in adult liver, kidney, heart and skeletal muscle. lung BTO:0000763 Y Y ECO:0000006 PubMed:10802064 UniProtKB #Copied from SPHK1, anno: 33882 #Copied from SPHK1, anno: 34552 #Copied from SPHK1, anno: 34554 #Copied from SPHK1, anno: 34556 AAE 3300034558 curatus Q9NYA1 8877 SPHK1 Homo sapiens 9606 Comment/tissue specificity #4,5,16,18,21,22,23,25# lung (#18,22# high activity of isozyme SPHK1, low activity of isozyme SPHK2 <37>; #4# high activity, isozymes SPHK1 and SPHK2 <30,36>; #25# expression of long-rSK1 mRNA <69>) <30,33,36,37,43,60,61,69,79,100> thymus BTO:0001374 2.7.1.91 Y Y ECO:0000033 Pubmed:16584625 BRENDA <60> Taha, T.A.; Hannun, Y.A.; Obeid, L.M.: Sphingosine kinase: biochemical and cellular regulation and role in disease. J. Biochem. Mol. Biol. (2006) 39, 113-131. {Pubmed:16584625} #Copied from SPHK1, anno: 33999 AAE 3300034562 curatus Q9NYA1 8877 SPHK1 Homo sapiens 9606 Comment/tissue specificity #4,5,16,18,21,22,23,25# lung (#18,22# high activity of isozyme SPHK1, low activity of isozyme SPHK2 <37>; #4# high activity, isozymes SPHK1 and SPHK2 <30,36>; #25# expression of long-rSK1 mRNA <69>) <30,33,36,37,43,60,61,69,79,100> thymus UBERON:0002370 2.7.1.91 Y Y ECO:0000033 Pubmed:16584625 BRENDA <60> Taha, T.A.; Hannun, Y.A.; Obeid, L.M.: Sphingosine kinase: biochemical and cellular regulation and role in disease. J. Biochem. Mol. Biol. (2006) 39, 113-131. {Pubmed:16584625} #Copied from SPHK1, anno: 34000 AAE 3300034563 curatus Q9NYA1 8877 SPHK1 Homo sapiens 9606 Comment/tissue specificity #4,5,6,16,18,21,22,23,25# kidney (#18,22# isozyme SPHK1 and isozyme SPHK2 <37>; #4# isozymes SPHK1 and SPHK2 <36>; #25# expression of long-rSK1 mRNA <69>) <16,19,30,33,36,37,43,60,61,69,86,124> heart BTO:0000562 2.7.1.91 Y Y ECO:0000033 Pubmed:16584625 BRENDA <60> Taha, T.A.; Hannun, Y.A.; Obeid, L.M.: Sphingosine kinase: biochemical and cellular regulation and role in disease. J. Biochem. Mol. Biol. (2006) 39, 113-131. {Pubmed:16584625} #Copied from SPHK1, anno: 34007 AAE 3300034564 curatus Q9NYA1 8877 SPHK1 Homo sapiens 9606 Comment/tissue specificity #4,5,6,16,18,21,22,23,25# kidney (#18,22# isozyme SPHK1 and isozyme SPHK2 <37>; #4# isozymes SPHK1 and SPHK2 <36>; #25# expression of long-rSK1 mRNA <69>) <16,19,30,33,36,37,43,60,61,69,86,124> heart UBERON:0000948 2.7.1.91 Y Y ECO:0000033 Pubmed:16584625 BRENDA <60> Taha, T.A.; Hannun, Y.A.; Obeid, L.M.: Sphingosine kinase: biochemical and cellular regulation and role in disease. J. Biochem. Mol. Biol. (2006) 39, 113-131. {Pubmed:16584625} #Copied from SPHK1, anno: 34008 AAE 3300034565 curatus Q9NYA1 8877 SPHK1 Homo sapiens 9606 Comment/tissue specificity #4,5,6,9,16,18,21,22,23,25# brain (#4# isozymes SPHK1 and SPHK2 <36>; #4# major isozyme is SPHK1 <30>; #18,22# quite low activity of isozyme SPHK1 and isozyme SPHK2 <37>; #4,5# white matter, cerebellum, cerebrum, red nucleus, cerebral peduncle <33>; #25# expression of long-rSK1 mRNA <69>) <5,7,19,30,33,36,37,43,60,61,69> spleen BTO:0001281 2.7.1.91 Y Y ECO:0000033 Pubmed:16584625 BRENDA <60> Taha, T.A.; Hannun, Y.A.; Obeid, L.M.: Sphingosine kinase: biochemical and cellular regulation and role in disease. J. Biochem. Mol. Biol. (2006) 39, 113-131. {Pubmed:16584625} #Copied from SPHK1, anno: 34013 AAE 3300034566 curatus Q9NYA1 8877 SPHK1 Homo sapiens 9606 Comment/tissue specificity #4,5,6,9,16,18,21,22,23,25# brain (#4# isozymes SPHK1 and SPHK2 <36>; #4# major isozyme is SPHK1 <30>; #18,22# quite low activity of isozyme SPHK1 and isozyme SPHK2 <37>; #4,5# white matter, cerebellum, cerebrum, red nucleus, cerebral peduncle <33>; #25# expression of long-rSK1 mRNA <69>) <5,7,19,30,33,36,37,43,60,61,69> spleen UBERON:0002106 2.7.1.91 Y Y ECO:0000033 Pubmed:16584625 BRENDA <60> Taha, T.A.; Hannun, Y.A.; Obeid, L.M.: Sphingosine kinase: biochemical and cellular regulation and role in disease. J. Biochem. Mol. Biol. (2006) 39, 113-131. {Pubmed:16584625} #Copied from SPHK1, anno: 34014 AAE 3300034567 curatus Q9NYA1 8877 SPHK1 Homo sapiens 9606 Comment/tissue specificity #16# colon cancer cell <43,67> colon BTO:0000269 2.7.1.91 Y Y ECO:0000006 Pubmed:16980623 BRENDA <67> Kohno, M.; Momoi, M.; Oo, M.L.; Paik, J.H.; Lee, Y.M.; Venkataraman, K.; Ai, Y.; Ristimaki, A.OP.; Fyrst, H.; Sano, H.; Rosenberg, D.; Saba, J.D.; Proia, R.L.; Hla1, T.: Intracellular role for sphingosine kinase 1 in intestinal adenoma cell proliferation. Mol. Cell. Biol. (2006) 26, 7211-7223. {Pubmed:16980623} #Copied from SPHK1, anno: 33974 AAE 3300034568 curatus O14788 8600 TNFSF11 Homo sapiens 9606 Comment/tissue specificity Highest in the peripheral lymph nodes, weak in spleen, peripheral blood Leukocytes, bone marrow, heart, placenta, skeletal muscle, stomach and thyroid. spleen UBERON:0002106 Y Y UniProtKB DGA, AAE 3300034569 curatus O14788 8600 TNFSF11 Homo sapiens 9606 Comment/tissue specificity Highest in the peripheral lymph nodes, weak in spleen, peripheral blood Leukocytes, bone marrow, heart, placenta, skeletal muscle, stomach and thyroid. thyroid gland BTO:0001379 Y Y UniProtKB DGA, AAE 3300034570 curatus O14788 8600 TNFSF11 Homo sapiens 9606 Comment/tissue specificity Highest in the peripheral lymph nodes, weak in spleen, peripheral blood Leukocytes, bone marrow, heart, placenta, skeletal muscle, stomach and thyroid. leukocyte BTO:0000751 leukocyte CL:0000738 Y Y UniProtKB peripheral blood leukocyte DGA, AAE 3300034572 curatus O14788 8600 TNFSF11 Homo sapiens 9606 Comment/tissue specificity Highest in the peripheral lymph nodes, weak in spleen, peripheral blood Leukocytes, bone marrow, heart, placenta, skeletal muscle, stomach and thyroid. thyroid gland UBERON:0002046 Y Y UniProtKB DGA, AAE 3300034573 curatus O14788 8600 TNFSF11 Homo sapiens 9606 Comment/tissue specificity Highest in the peripheral lymph nodes, weak in spleen, peripheral blood Leukocytes, bone marrow, heart, placenta, skeletal muscle, stomach and thyroid. lymph node BTO:0000784 Y Y UniProtKB peripheral lymph node DGA, AAE 3300034574 curatus O14788 8600 TNFSF11 Homo sapiens 9606 Comment/tissue specificity Highest in the peripheral lymph nodes, weak in spleen, peripheral blood Leukocytes, bone marrow, heart, placenta, skeletal muscle, stomach and thyroid. peripheral lymph node UBERON:0003968 Y Y UniProtKB DGA, AAE 3300034575 curatus Q9Y6Q6 8792 TNFRSF11A Homo sapiens 9606 Comment/tissue specificity Ubiquitous expression with high levels in skeletal muscle, thymus, liver, colon, small intestine and adrenal gland. adrenal gland BTO:0000047 Y Y UniProtKB AAE 3300034576 curatus Q9Y6Q6 8792 TNFRSF11A Homo sapiens 9606 Comment/tissue specificity Ubiquitous expression with high levels in skeletal muscle, thymus, liver, colon, small intestine and adrenal gland. skeletal muscle BTO:0001103 Y Y UniProtKB AAE 3300034577 curatus Q9Y6Q6 8792 TNFRSF11A Homo sapiens 9606 Comment/tissue specificity Ubiquitous expression with high levels in skeletal muscle, thymus, liver, colon, small intestine and adrenal gland. skeletal muscle tissue UBERON:0001134 Y Y UniProtKB AAE 3300034578 curatus Q86YL7 10630 PDPN Homo sapiens 9606 Comment/tissue specificity Highly expressed in placenta, lung, skeletal muscle and brain. Weakly expressed in brain, kidney and liver. In placenta, expressed on the apical plasma membrane of endothelium. In lung, expressed in alveolar epithelium. Up-regulated in colorectal tumors and expressed in 25% of early oral squamous cell carcinomas. placenta UBERON:0001987 Y Y ECO:0000269 PubMed:15515019 PubMed:14522983 PubMed:10393083 UniProtKB AAE 3300034584 curatus Q86YL7 10630 PDPN Homo sapiens 9606 Comment/Involvement in disease Highly expressed in placenta, lung, skeletal muscle and brain. Weakly expressed in brain, kidney and liver. In placenta, expressed on the apical plasma membrane of endothelium. In lung, expressed in alveolar epithelium. Up-regulated in colorectal tumors and expressed in 25% of early oral squamous cell carcinomas. colorectal cancer DOID:9256 Y Y ECO:0000269 PubMed:15515019 PubMed:14522983 PubMed:10393083 UniProtKB AAE 3300034585 curatus Q86YL7 10630 PDPN Homo sapiens 9606 Comment/Involvement in disease Highly expressed in placenta, lung, skeletal muscle and brain. Weakly expressed in brain, kidney and liver. In placenta, expressed on the apical plasma membrane of endothelium. In lung, expressed in alveolar epithelium. Up-regulated in colorectal tumors and expressed in 25% of early oral squamous cell carcinomas. oral squamous cell carcinoma DOID:0050866 Y Y ECO:0000269 PubMed:15515019 PubMed:14522983 PubMed:10393083 UniProtKB topic changed to disease AAE 3300034586 curatus P14598 653361 NCF1 Homo sapiens 9606 Comment/tissue specificity Detected in peripheral blood monocytes and neutrophils (at protein level). monocyte BTO:0000876 monocyte CL:0000576 Y Y ECO:0000269 PubMed:2550933 PubMed:2547247 UniProtKB peripheral blood monocyte AAE 3300034587 curatus P31391 6754 SSTR4 Homo sapiens 9606 Comment/tissue specificity Specifically expressed in fetal and adult brain, lung tissue, stomach, and in lesser quantities in the kidney, pituitary and adrenals. adrenal gland BTO:0000047 Y Y UniProtKB AAE 3300034588 curatus P31391 6754 SSTR4 Homo sapiens 9606 Comment/tissue specificity Specifically expressed in fetal and adult brain, lung tissue, stomach, and in lesser quantities in the kidney, pituitary and adrenals. pituitary gland UBERON:0000007 Y Y UniProtKB #Copied from SSTR4, anno: 33919 AAE 3300034589 curatus P31391 6754 SSTR4 Homo sapiens 9606 Comment/tissue specificity Specifically expressed in fetal and adult brain, lung tissue, stomach, and in lesser quantities in the kidney, pituitary and adrenals. hypophysis BTO:0001073 Y Y UniProtKB AAE 3300034590 curatus P31391 6754 SSTR4 Homo sapiens 9606 Comment/tissue specificity Specifically expressed in fetal and adult brain, lung tissue, stomach, and in lesser quantities in the kidney, pituitary and adrenals. lung BTO:0000763 Y Y UniProtKB AAE 3300034591 curatus P31391 6754 SSTR4 Homo sapiens 9606 Comment/tissue specificity Specifically expressed in fetal and adult brain, lung tissue, stomach, and in lesser quantities in the kidney, pituitary and adrenals. lung UBERON:0002048 Y Y UniProtKB AAE 3300034592 curatus P31391 6754 SSTR4 Homo sapiens 9606 Comment/tissue specificity Specifically expressed in fetal and adult brain, lung tissue, stomach, and in lesser quantities in the kidney, pituitary and adrenals. kidney BTO:0000671 Y Y UniProtKB AAE 3300034593 curatus P31391 6754 SSTR4 Homo sapiens 9606 Comment/tissue specificity Specifically expressed in fetal and adult brain, lung tissue, stomach, and in lesser quantities in the kidney, pituitary and adrenals. kidney UBERON:0002113 Y Y UniProtKB AAE 3300034594 curatus P31391 6754 SSTR4 Homo sapiens 9606 Comment/tissue specificity Specifically expressed in fetal and adult brain, lung tissue, stomach, and in lesser quantities in the kidney, pituitary and adrenals. brain BTO:0000142 Y Y UniProtKB AAE 3300034595 curatus P31391 6754 SSTR4 Homo sapiens 9606 Comment/tissue specificity Specifically expressed in fetal and adult brain, lung tissue, stomach, and in lesser quantities in the kidney, pituitary and adrenals. brain UBERON:0000955 Y Y UniProtKB AAE 3300034596 curatus P31391 6754 SSTR4 Homo sapiens 9606 Comment/tissue specificity Specifically expressed in fetal and adult brain, lung tissue, stomach, and in lesser quantities in the kidney, pituitary and adrenals. brain BTO:0000142 fetus BTO:0000449 Y Y UniProtKB AAE 3300034599 curatus P31391 6754 SSTR4 Homo sapiens 9606 Comment/tissue specificity Specifically expressed in fetal and adult brain, lung tissue, stomach, and in lesser quantities in the kidney, pituitary and adrenals. brain UBERON:0000955 fetus BTO:0000449 Y Y UniProtKB AAE 3300034600 curatus 7097 TLR2 Homo sapiens 9606 Comment/tissue specificity Highly expressed in peripheral blood leukocytes, in particular in monocytes, in bone marrow, lymph node and in spleen. Also detected in lung and in fetal liver. Levels are low in other tissues. liver BTO:0000759 fetus BTO:0000449 Y Y UniProtKB DGA, AAE 3300034601 curatus 7097 TLR2 Homo sapiens 9606 Comment/tissue specificity Highly expressed in peripheral blood leukocytes, in particular in monocytes, in bone marrow, lymph node and in spleen. Also detected in lung and in fetal liver. Levels are low in other tissues. spleen BTO:0001281 Y Y UniProtKB DGA, AAE 3300034602 curatus 7097 TLR2 Homo sapiens 9606 Comment/tissue specificity Highly expressed in peripheral blood leukocytes, in particular in monocytes, in bone marrow, lymph node and in spleen. Also detected in lung and in fetal liver. Levels are low in other tissues. spleen UBERON:0002106 Y Y UniProtKB DGA, AAE 3300034603 curatus 7097 TLR2 Homo sapiens 9606 Comment/tissue specificity Highly expressed in peripheral blood leukocytes, in particular in monocytes, in bone marrow, lymph node and in spleen. Also detected in lung and in fetal liver. Levels are low in other tissues. leukocyte BTO:0000751 leukocyte CL:0000738 Y Y UniProtKB peripheral blood leukocytes DGA, AAE 3300034604 curatus 7097 TLR2 Homo sapiens 9606 Comment/tissue specificity Highly expressed in peripheral blood leukocytes, in particular in monocytes, in bone marrow, lymph node and in spleen. Also detected in lung and in fetal liver. Levels are low in other tissues. monocyte BTO:0000876 monocyte CL:0000576 Y Y UniProtKB DGA, AAE 3300034605 curatus 7097 TLR2 Homo sapiens 9606 Comment/tissue specificity Highly expressed in peripheral blood leukocytes, in particular in monocytes, in bone marrow, lymph node and in spleen. Also detected in lung and in fetal liver. Levels are low in other tissues. bone marrow BTO:0000141 Y Y UniProtKB DGA, AAE 3300034606 curatus 7097 TLR2 Homo sapiens 9606 Comment/tissue specificity Highly expressed in peripheral blood leukocytes, in particular in monocytes, in bone marrow, lymph node and in spleen. Also detected in lung and in fetal liver. Levels are low in other tissues. bone marrow UBERON:0002371 Y Y UniProtKB DGA, AAE 3300034607 curatus 7097 TLR2 Homo sapiens 9606 Comment/tissue specificity Highly expressed in peripheral blood leukocytes, in particular in monocytes, in bone marrow, lymph node and in spleen. Also detected in lung and in fetal liver. Levels are low in other tissues. lung BTO:0000763 Y Y UniProtKB DGA, AAE 3300034608 curatus 7097 TLR2 Homo sapiens 9606 Comment/tissue specificity Highly expressed in peripheral blood leukocytes, in particular in monocytes, in bone marrow, lymph node and in spleen. Also detected in lung and in fetal liver. Levels are low in other tissues. lung UBERON:0002048 Y Y UniProtKB DGA, AAE 3300034609 curatus Q969F8 84634 KISS1R Homo sapiens 9606 Comment/tissue specificity Most highly expressed in the pancreas, placenta and spinal cord, with lower-level of expression in peripheral blood leukocytes, kidney, lung, fetal liver, stomach, small intestine, testes, spleen, thymus, adrenal glands and lymph nodes. In the adult brain, expressed in the superior frontal gyrus, putamen, caudate nucleus, cingulate gyrus, nucleus accumbens, hippocampus, pons and amygdala, as well as the hypothalamus and pituitary. Expression levels are higher in early (7-9 weeks) than term placentas. Expression levels were increased in both early placentas and molar pregnancies and were reduced in choriocarcinoma cells. Expressed at higher levels in first trimester trophoblasts than at term of gestation. Also found in the extravillous trophoblast suggesting endocrine/paracrine activation mechanism. extravillous trophoblast BTO:0002366 Y Y ECO:0000269 PubMed:11457843 PubMed:15020672 PubMed:11385580 PubMed:11414709 PubMed:11387329 PubMed:12414911 UniProtKB AAE 3300034620 curatus Q969F8 84634 KISS1R Homo sapiens 9606 Comment/tissue specificity Most highly expressed in the pancreas, placenta and spinal cord, with lower-level of expression in peripheral blood leukocytes, kidney, lung, fetal liver, stomach, small intestine, testes, spleen, thymus, adrenal glands and lymph nodes. In the adult brain, expressed in the superior frontal gyrus, putamen, caudate nucleus, cingulate gyrus, nucleus accumbens, hippocampus, pons and amygdala, as well as the hypothalamus and pituitary. Expression levels are higher in early (7-9 weeks) than term placentas. Expression levels were increased in both early placentas and molar pregnancies and were reduced in choriocarcinoma cells. Expressed at higher levels in first trimester trophoblasts than at term of gestation. Also found in the extravillous trophoblast suggesting endocrine/paracrine activation mechanism. choriocarcinoma cell BTO:0001576 Y Y ECO:0000269 PubMed:11457843 PubMed:15020672 PubMed:11385580 PubMed:11414709 PubMed:11387329 PubMed:12414911 UniProtKB Expression levels reduced in choriocarcinoma cells AAE 3300034621 curatus Q969F8 84634 KISS1R Homo sapiens 9606 Comment/tissue specificity Most highly expressed in the pancreas, placenta and spinal cord, with lower-level of expression in peripheral blood leukocytes, kidney, lung, fetal liver, stomach, small intestine, testes, spleen, thymus, adrenal glands and lymph nodes. In the adult brain, expressed in the superior frontal gyrus, putamen, caudate nucleus, cingulate gyrus, nucleus accumbens, hippocampus, pons and amygdala, as well as the hypothalamus and pituitary. Expression levels are higher in early (7-9 weeks) than term placentas. Expression levels were increased in both early placentas and molar pregnancies and were reduced in choriocarcinoma cells. Expressed at higher levels in first trimester trophoblasts than at term of gestation. Also found in the extravillous trophoblast suggesting endocrine/paracrine activation mechanism. trophoblast BTO:0001079 trophoblast cell CL:0000351 Y Y ECO:0000269 PubMed:11457843 PubMed:15020672 PubMed:11385580 PubMed:11414709 PubMed:11387329 PubMed:12414911 UniProtKB Expressed at higher levels in first trimester trophoblasts than at term of gestation AAE 3300034622 curatus Q969F8 84634 KISS1R Homo sapiens 9606 Comment/tissue specificity Most highly expressed in the pancreas, placenta and spinal cord, with lower-level of expression in peripheral blood leukocytes, kidney, lung, fetal liver, stomach, small intestine, testes, spleen, thymus, adrenal glands and lymph nodes. In the adult brain, expressed in the superior frontal gyrus, putamen, caudate nucleus, cingulate gyrus, nucleus accumbens, hippocampus, pons and amygdala, as well as the hypothalamus and pituitary. Expression levels are higher in early (7-9 weeks) than term placentas. Expression levels were increased in both early placentas and molar pregnancies and were reduced in choriocarcinoma cells. Expressed at higher levels in first trimester trophoblasts than at term of gestation. Also found in the extravillous trophoblast suggesting endocrine/paracrine activation mechanism. hypothalamus BTO:0000614 Y Y ECO:0000269 PubMed:11457843 PubMed:15020672 PubMed:11385580 PubMed:11414709 PubMed:11387329 PubMed:12414911 UniProtKB AAE 3300034623 curatus Q969F8 84634 KISS1R Homo sapiens 9606 Comment/tissue specificity Most highly expressed in the pancreas, placenta and spinal cord, with lower-level of expression in peripheral blood leukocytes, kidney, lung, fetal liver, stomach, small intestine, testes, spleen, thymus, adrenal glands and lymph nodes. In the adult brain, expressed in the superior frontal gyrus, putamen, caudate nucleus, cingulate gyrus, nucleus accumbens, hippocampus, pons and amygdala, as well as the hypothalamus and pituitary. Expression levels are higher in early (7-9 weeks) than term placentas. Expression levels were increased in both early placentas and molar pregnancies and were reduced in choriocarcinoma cells. Expressed at higher levels in first trimester trophoblasts than at term of gestation. Also found in the extravillous trophoblast suggesting endocrine/paracrine activation mechanism. hypothalamus UBERON:0001898 Y Y ECO:0000269 PubMed:11457843 PubMed:15020672 PubMed:11385580 PubMed:11414709 PubMed:11387329 PubMed:12414911 UniProtKB #Copied from KISS1R, anno: 33841 #Copied from KISS1R, anno: 34620 AAE 3300034624 curatus Q969F8 84634 KISS1R Homo sapiens 9606 Comment/tissue specificity Most highly expressed in the pancreas, placenta and spinal cord, with lower-level of expression in peripheral blood leukocytes, kidney, lung, fetal liver, stomach, small intestine, testes, spleen, thymus, adrenal glands and lymph nodes. In the adult brain, expressed in the superior frontal gyrus, putamen, caudate nucleus, cingulate gyrus, nucleus accumbens, hippocampus, pons and amygdala, as well as the hypothalamus and pituitary. Expression levels are higher in early (7-9 weeks) than term placentas. Expression levels were increased in both early placentas and molar pregnancies and were reduced in choriocarcinoma cells. Expressed at higher levels in first trimester trophoblasts than at term of gestation. Also found in the extravillous trophoblast suggesting endocrine/paracrine activation mechanism. pituitary gland UBERON:0000007 Y Y ECO:0000269 PubMed:11457843 PubMed:15020672 PubMed:11385580 PubMed:11414709 PubMed:11387329 PubMed:12414911 UniProtKB AAE 3300034625 curatus Q969F8 84634 KISS1R Homo sapiens 9606 Comment/tissue specificity Most highly expressed in the pancreas, placenta and spinal cord, with lower-level of expression in peripheral blood leukocytes, kidney, lung, fetal liver, stomach, small intestine, testes, spleen, thymus, adrenal glands and lymph nodes. In the adult brain, expressed in the superior frontal gyrus, putamen, caudate nucleus, cingulate gyrus, nucleus accumbens, hippocampus, pons and amygdala, as well as the hypothalamus and pituitary. Expression levels are higher in early (7-9 weeks) than term placentas. Expression levels were increased in both early placentas and molar pregnancies and were reduced in choriocarcinoma cells. Expressed at higher levels in first trimester trophoblasts than at term of gestation. Also found in the extravillous trophoblast suggesting endocrine/paracrine activation mechanism. hypophysis BTO:0001073 Y Y ECO:0000269 PubMed:11457843 PubMed:15020672 PubMed:11385580 PubMed:11414709 PubMed:11387329 PubMed:12414911 UniProtKB AAE 3300034626 curatus Q969F8 84634 KISS1R Homo sapiens 9606 Comment/tissue specificity Most highly expressed in the pancreas, placenta and spinal cord, with lower-level of expression in peripheral blood leukocytes, kidney, lung, fetal liver, stomach, small intestine, testes, spleen, thymus, adrenal glands and lymph nodes. In the adult brain, expressed in the superior frontal gyrus, putamen, caudate nucleus, cingulate gyrus, nucleus accumbens, hippocampus, pons and amygdala, as well as the hypothalamus and pituitary. Expression levels are higher in early (7-9 weeks) than term placentas. Expression levels were increased in both early placentas and molar pregnancies and were reduced in choriocarcinoma cells. Expressed at higher levels in first trimester trophoblasts than at term of gestation. Also found in the extravillous trophoblast suggesting endocrine/paracrine activation mechanism. liver UBERON:0002107 fetus BTO:0000449 Y Y ECO:0000269 PubMed:11457843 PubMed:15020672 PubMed:11385580 PubMed:11414709 PubMed:11387329 PubMed:12414911 UniProtKB AAE 3300034627 curatus Q969F8 84634 KISS1R Homo sapiens 9606 Comment/tissue specificity Most highly expressed in the pancreas, placenta and spinal cord, with lower-level of expression in peripheral blood leukocytes, kidney, lung, fetal liver, stomach, small intestine, testes, spleen, thymus, adrenal glands and lymph nodes. In the adult brain, expressed in the superior frontal gyrus, putamen, caudate nucleus, cingulate gyrus, nucleus accumbens, hippocampus, pons and amygdala, as well as the hypothalamus and pituitary. Expression levels are higher in early (7-9 weeks) than term placentas. Expression levels were increased in both early placentas and molar pregnancies and were reduced in choriocarcinoma cells. Expressed at higher levels in first trimester trophoblasts than at term of gestation. Also found in the extravillous trophoblast suggesting endocrine/paracrine activation mechanism. testis BTO:0001363 Y Y ECO:0000269 PubMed:11457843 PubMed:15020672 PubMed:11385580 PubMed:11414709 PubMed:11387329 PubMed:12414911 UniProtKB AAE 3300034628 curatus Q969F8 84634 KISS1R Homo sapiens 9606 Comment/tissue specificity Most highly expressed in the pancreas, placenta and spinal cord, with lower-level of expression in peripheral blood leukocytes, kidney, lung, fetal liver, stomach, small intestine, testes, spleen, thymus, adrenal glands and lymph nodes. In the adult brain, expressed in the superior frontal gyrus, putamen, caudate nucleus, cingulate gyrus, nucleus accumbens, hippocampus, pons and amygdala, as well as the hypothalamus and pituitary. Expression levels are higher in early (7-9 weeks) than term placentas. Expression levels were increased in both early placentas and molar pregnancies and were reduced in choriocarcinoma cells. Expressed at higher levels in first trimester trophoblasts than at term of gestation. Also found in the extravillous trophoblast suggesting endocrine/paracrine activation mechanism. testis UBERON:0000473 Y Y ECO:0000269 PubMed:11457843 PubMed:15020672 PubMed:11385580 PubMed:11414709 PubMed:11387329 PubMed:12414911 UniProtKB AAE 3300034629 curatus Q969F8 84634 KISS1R Homo sapiens 9606 Comment/tissue specificity Most highly expressed in the pancreas, placenta and spinal cord, with lower-level of expression in peripheral blood leukocytes, kidney, lung, fetal liver, stomach, small intestine, testes, spleen, thymus, adrenal glands and lymph nodes. In the adult brain, expressed in the superior frontal gyrus, putamen, caudate nucleus, cingulate gyrus, nucleus accumbens, hippocampus, pons and amygdala, as well as the hypothalamus and pituitary. Expression levels are higher in early (7-9 weeks) than term placentas. Expression levels were increased in both early placentas and molar pregnancies and were reduced in choriocarcinoma cells. Expressed at higher levels in first trimester trophoblasts than at term of gestation. Also found in the extravillous trophoblast suggesting endocrine/paracrine activation mechanism. adrenal gland BTO:0000047 Y Y ECO:0000269 PubMed:11457843 PubMed:15020672 PubMed:11385580 PubMed:11414709 PubMed:11387329 PubMed:12414911 UniProtKB AAE 3300034630 curatus Q969F8 84634 KISS1R Homo sapiens 9606 Comment/tissue specificity Most highly expressed in the pancreas, placenta and spinal cord, with lower-level of expression in peripheral blood leukocytes, kidney, lung, fetal liver, stomach, small intestine, testes, spleen, thymus, adrenal glands and lymph nodes. In the adult brain, expressed in the superior frontal gyrus, putamen, caudate nucleus, cingulate gyrus, nucleus accumbens, hippocampus, pons and amygdala, as well as the hypothalamus and pituitary. Expression levels are higher in early (7-9 weeks) than term placentas. Expression levels were increased in both early placentas and molar pregnancies and were reduced in choriocarcinoma cells. Expressed at higher levels in first trimester trophoblasts than at term of gestation. Also found in the extravillous trophoblast suggesting endocrine/paracrine activation mechanism. adrenal gland UBERON:0002369 Y Y ECO:0000269 PubMed:11457843 PubMed:15020672 PubMed:11385580 PubMed:11414709 PubMed:11387329 PubMed:12414911 UniProtKB AAE 3300034631 curatus Q969F8 84634 KISS1R Homo sapiens 9606 Comment/tissue specificity Most highly expressed in the pancreas, placenta and spinal cord, with lower-level of expression in peripheral blood leukocytes, kidney, lung, fetal liver, stomach, small intestine, testes, spleen, thymus, adrenal glands and lymph nodes. In the adult brain, expressed in the superior frontal gyrus, putamen, caudate nucleus, cingulate gyrus, nucleus accumbens, hippocampus, pons and amygdala, as well as the hypothalamus and pituitary. Expression levels are higher in early (7-9 weeks) than term placentas. Expression levels were increased in both early placentas and molar pregnancies and were reduced in choriocarcinoma cells. Expressed at higher levels in first trimester trophoblasts than at term of gestation. Also found in the extravillous trophoblast suggesting endocrine/paracrine activation mechanism. superior frontal gyrus BTO:0004836 Y Y ECO:0000269 PubMed:11457843 PubMed:15020672 PubMed:11385580 PubMed:11414709 PubMed:11387329 PubMed:12414911 UniProtKB AAE 3300034632 curatus Q969F8 84634 KISS1R Homo sapiens 9606 Comment/tissue specificity Most highly expressed in the pancreas, placenta and spinal cord, with lower-level of expression in peripheral blood leukocytes, kidney, lung, fetal liver, stomach, small intestine, testes, spleen, thymus, adrenal glands and lymph nodes. In the adult brain, expressed in the superior frontal gyrus, putamen, caudate nucleus, cingulate gyrus, nucleus accumbens, hippocampus, pons and amygdala, as well as the hypothalamus and pituitary. Expression levels are higher in early (7-9 weeks) than term placentas. Expression levels were increased in both early placentas and molar pregnancies and were reduced in choriocarcinoma cells. Expressed at higher levels in first trimester trophoblasts than at term of gestation. Also found in the extravillous trophoblast suggesting endocrine/paracrine activation mechanism. superior frontal gyrus UBERON:0002661 Y Y ECO:0000269 PubMed:11457843 PubMed:15020672 PubMed:11385580 PubMed:11414709 PubMed:11387329 PubMed:12414911 UniProtKB AAE 3300034633 curatus Q969F8 84634 KISS1R Homo sapiens 9606 Comment/tissue specificity Most highly expressed in the pancreas, placenta and spinal cord, with lower-level of expression in peripheral blood leukocytes, kidney, lung, fetal liver, stomach, small intestine, testes, spleen, thymus, adrenal glands and lymph nodes. In the adult brain, expressed in the superior frontal gyrus, putamen, caudate nucleus, cingulate gyrus, nucleus accumbens, hippocampus, pons and amygdala, as well as the hypothalamus and pituitary. Expression levels are higher in early (7-9 weeks) than term placentas. Expression levels were increased in both early placentas and molar pregnancies and were reduced in choriocarcinoma cells. Expressed at higher levels in first trimester trophoblasts than at term of gestation. Also found in the extravillous trophoblast suggesting endocrine/paracrine activation mechanism. putamen UBERON:0001874 Y Y ECO:0000269 PubMed:11457843 PubMed:15020672 PubMed:11385580 PubMed:11414709 PubMed:11387329 PubMed:12414911 UniProtKB could not find appropriate BTO term AAE 3300034634 curatus Q969F8 84634 KISS1R Homo sapiens 9606 Comment/tissue specificity Most highly expressed in the pancreas, placenta and spinal cord, with lower-level of expression in peripheral blood leukocytes, kidney, lung, fetal liver, stomach, small intestine, testes, spleen, thymus, adrenal glands and lymph nodes. In the adult brain, expressed in the superior frontal gyrus, putamen, caudate nucleus, cingulate gyrus, nucleus accumbens, hippocampus, pons and amygdala, as well as the hypothalamus and pituitary. Expression levels are higher in early (7-9 weeks) than term placentas. Expression levels were increased in both early placentas and molar pregnancies and were reduced in choriocarcinoma cells. Expressed at higher levels in first trimester trophoblasts than at term of gestation. Also found in the extravillous trophoblast suggesting endocrine/paracrine activation mechanism. pancreas BTO:0000988 Y Y ECO:0000269 PubMed:11457843 PubMed:15020672 PubMed:11385580 PubMed:11414709 PubMed:11387329 PubMed:12414911 UniProtKB AAE 3300034635 curatus Q969F8 84634 KISS1R Homo sapiens 9606 Comment/tissue specificity Most highly expressed in the pancreas, placenta and spinal cord, with lower-level of expression in peripheral blood leukocytes, kidney, lung, fetal liver, stomach, small intestine, testes, spleen, thymus, adrenal glands and lymph nodes. In the adult brain, expressed in the superior frontal gyrus, putamen, caudate nucleus, cingulate gyrus, nucleus accumbens, hippocampus, pons and amygdala, as well as the hypothalamus and pituitary. Expression levels are higher in early (7-9 weeks) than term placentas. Expression levels were increased in both early placentas and molar pregnancies and were reduced in choriocarcinoma cells. Expressed at higher levels in first trimester trophoblasts than at term of gestation. Also found in the extravillous trophoblast suggesting endocrine/paracrine activation mechanism. pancreas UBERON:0001264 Y Y ECO:0000269 PubMed:11457843 PubMed:15020672 PubMed:11385580 PubMed:11414709 PubMed:11387329 PubMed:12414911 UniProtKB AAE 3300034636 curatus Q969F8 84634 KISS1R Homo sapiens 9606 Comment/tissue specificity Most highly expressed in the pancreas, placenta and spinal cord, with lower-level of expression in peripheral blood leukocytes, kidney, lung, fetal liver, stomach, small intestine, testes, spleen, thymus, adrenal glands and lymph nodes. In the adult brain, expressed in the superior frontal gyrus, putamen, caudate nucleus, cingulate gyrus, nucleus accumbens, hippocampus, pons and amygdala, as well as the hypothalamus and pituitary. Expression levels are higher in early (7-9 weeks) than term placentas. Expression levels were increased in both early placentas and molar pregnancies and were reduced in choriocarcinoma cells. Expressed at higher levels in first trimester trophoblasts than at term of gestation. Also found in the extravillous trophoblast suggesting endocrine/paracrine activation mechanism. leukocyte BTO:0000751 leukocyte CL:0000738 Y Y ECO:0000269 PubMed:11457843 PubMed:15020672 PubMed:11385580 PubMed:11414709 PubMed:11387329 PubMed:12414911 UniProtKB peripheral blood leukocyte AAE 3300034637 curatus Q969F8 84634 KISS1R Homo sapiens 9606 Comment/tissue specificity Most highly expressed in the pancreas, placenta and spinal cord, with lower-level of expression in peripheral blood leukocytes, kidney, lung, fetal liver, stomach, small intestine, testes, spleen, thymus, adrenal glands and lymph nodes. In the adult brain, expressed in the superior frontal gyrus, putamen, caudate nucleus, cingulate gyrus, nucleus accumbens, hippocampus, pons and amygdala, as well as the hypothalamus and pituitary. Expression levels are higher in early (7-9 weeks) than term placentas. Expression levels were increased in both early placentas and molar pregnancies and were reduced in choriocarcinoma cells. Expressed at higher levels in first trimester trophoblasts than at term of gestation. Also found in the extravillous trophoblast suggesting endocrine/paracrine activation mechanism. liver BTO:0000759 fetus BTO:0000449 Y Y ECO:0000269 PubMed:11457843 PubMed:15020672 PubMed:11385580 PubMed:11414709 PubMed:11387329 PubMed:12414911 UniProtKB AAE 3300034638 Faith P45984 5601 MAPK9 Homo sapiens 9606 Comment/Involvement in disease V13M; In a colorectal adenocarcinoma sample; somatic mutation. colorectal cancer DOID:9256 Y Y PubMed:17344846 UniProtKB taken from CAN:3300033368 colorectal adenocarcinoma DGA, AAE 3300034639 curatus P45984 5601 MAPK9 Homo sapiens 9606 Comment/Involvement in disease V13M; In a colorectal adenocarcinoma sample; somatic mutation. head and neck squamous cell carcinoma DOID:5520 Y Y PubMed:17344846 UniProtKB taken from CAN:3300033369 DGA, AAE 3300034640 curatus P14174 4282 MIF Homo sapiens 9606 Comment/tissue specificity Up-regulated in concanavalin-A-treated lymphocytes. Up-regulated in macrophages upon exposure to M.tuberculosis antigens. macrophage BTO:0000801 macrophage CL:0000235 Y Y ECO:0000269 PubMed:15908412 PubMed:2552447 UniProtKB inducible:M.tuberculosis antigens; topic changed from induction DGA, AAE 3300034641 curatus Q96EB6 23411 SIRT1 Homo sapiens 9606 Comment/tissue specificity Expressed in adult heart, brain, placenta, lung, liver skeletal muscle, kidney, pancreas, spleen, thymus, prostate, testis, ovary, small intestine, colon, and leukocyte. Expressed in fetal brain, lung liver, kidney, heart, spleen, thymus, and skeletal muscle. skeletal muscle tissue UBERON:0001134 Y Y ECO:0000006 PubMed:10381378 UniProtKB DGA, AAE 3300034780 curatus Q96EB6 23411 SIRT1 Homo sapiens 9606 Comment/tissue specificity Expressed in adult heart, brain, placenta, lung, liver skeletal muscle, kidney, pancreas, spleen, thymus, prostate, testis, ovary, small intestine, colon, and leukocyte. Expressed in fetal brain, lung liver, kidney, heart, spleen, thymus, and skeletal muscle. skeletal muscle BTO:0001103 Y Y ECO:0000006 PubMed:10381378 UniProtKB DGA, AAE 3300034781 curatus Q96EB6 23411 SIRT1 Homo sapiens 9606 Comment/tissue specificity Expressed in adult heart, brain, placenta, lung, liver skeletal muscle, kidney, pancreas, spleen, thymus, prostate, testis, ovary, small intestine, colon, and leukocyte. Expressed in fetal brain, lung liver, kidney, heart, spleen, thymus, and skeletal muscle. thymus BTO:0001374 Y Y ECO:0000006 PubMed:10381378 UniProtKB DGA, AAE 3300034782 curatus Q96EB6 23411 SIRT1 Homo sapiens 9606 Comment/tissue specificity Expressed in adult heart, brain, placenta, lung, liver skeletal muscle, kidney, pancreas, spleen, thymus, prostate, testis, ovary, small intestine, colon, and leukocyte. Expressed in fetal brain, lung liver, kidney, heart, spleen, thymus, and skeletal muscle. thymus UBERON:0002370 Y Y ECO:0000006 PubMed:10381378 UniProtKB DGA, AAE 3300034783 curatus Q96EB6 23411 SIRT1 Homo sapiens 9606 Comment/tissue specificity Expressed in adult heart, brain, placenta, lung, liver skeletal muscle, kidney, pancreas, spleen, thymus, prostate, testis, ovary, small intestine, colon, and leukocyte. Expressed in fetal brain, lung liver, kidney, heart, spleen, thymus, and skeletal muscle. heart BTO:0000562 Y Y ECO:0000006 PubMed:10381378 UniProtKB DGA, AAE 3300034784 curatus Q96EB6 23411 SIRT1 Homo sapiens 9606 Comment/tissue specificity Expressed in adult heart, brain, placenta, lung, liver skeletal muscle, kidney, pancreas, spleen, thymus, prostate, testis, ovary, small intestine, colon, and leukocyte. Expressed in fetal brain, lung liver, kidney, heart, spleen, thymus, and skeletal muscle. heart UBERON:0000948 Y Y ECO:0000006 PubMed:10381378 UniProtKB DGA, AAE 3300034785 curatus Q96EB6 23411 SIRT1 Homo sapiens 9606 Comment/tissue specificity Expressed in adult heart, brain, placenta, lung, liver skeletal muscle, kidney, pancreas, spleen, thymus, prostate, testis, ovary, small intestine, colon, and leukocyte. Expressed in fetal brain, lung liver, kidney, heart, spleen, thymus, and skeletal muscle. spleen BTO:0001281 Y Y ECO:0000006 PubMed:10381378 UniProtKB DGA, AAE 3300034786 curatus Q96EB6 23411 SIRT1 Homo sapiens 9606 Comment/tissue specificity Expressed in adult heart, brain, placenta, lung, liver skeletal muscle, kidney, pancreas, spleen, thymus, prostate, testis, ovary, small intestine, colon, and leukocyte. Expressed in fetal brain, lung liver, kidney, heart, spleen, thymus, and skeletal muscle. spleen UBERON:0002106 Y Y ECO:0000006 PubMed:10381378 UniProtKB DGA, AAE 3300034787 curatus Q96EB6 23411 SIRT1 Homo sapiens 9606 Comment/tissue specificity Expressed in adult heart, brain, placenta, lung, liver skeletal muscle, kidney, pancreas, spleen, thymus, prostate, testis, ovary, small intestine, colon, and leukocyte. Expressed in fetal brain, lung liver, kidney, heart, spleen, thymus, and skeletal muscle. brain BTO:0000142 Y Y ECO:0000006 PubMed:10381378 UniProtKB DGA, AAE 3300034788 curatus Q96EB6 23411 SIRT1 Homo sapiens 9606 Comment/tissue specificity Expressed in adult heart, brain, placenta, lung, liver skeletal muscle, kidney, pancreas, spleen, thymus, prostate, testis, ovary, small intestine, colon, and leukocyte. Expressed in fetal brain, lung liver, kidney, heart, spleen, thymus, and skeletal muscle. brain UBERON:0000955 Y Y ECO:0000006 PubMed:10381378 UniProtKB DGA, AAE 3300034789 curatus Q96EB6 23411 SIRT1 Homo sapiens 9606 Comment/tissue specificity Expressed in adult heart, brain, placenta, lung, liver skeletal muscle, kidney, pancreas, spleen, thymus, prostate, testis, ovary, small intestine, colon, and leukocyte. Expressed in fetal brain, lung liver, kidney, heart, spleen, thymus, and skeletal muscle. lung BTO:0000763 Y Y ECO:0000006 PubMed:10381378 UniProtKB DGA, AAE 3300034790 curatus Q96EB6 23411 SIRT1 Homo sapiens 9606 Comment/tissue specificity Expressed in adult heart, brain, placenta, lung, liver skeletal muscle, kidney, pancreas, spleen, thymus, prostate, testis, ovary, small intestine, colon, and leukocyte. Expressed in fetal brain, lung liver, kidney, heart, spleen, thymus, and skeletal muscle. lung UBERON:0002048 Y Y ECO:0000006 PubMed:10381378 UniProtKB DGA, AAE 3300034791 curatus Q96EB6 23411 SIRT1 Homo sapiens 9606 Comment/tissue specificity Expressed in adult heart, brain, placenta, lung, liver skeletal muscle, kidney, pancreas, spleen, thymus, prostate, testis, ovary, small intestine, colon, and leukocyte. Expressed in fetal brain, lung liver, kidney, heart, spleen, thymus, and skeletal muscle. liver BTO:0000759 Y Y ECO:0000006 PubMed:10381378 UniProtKB DGA, AAE 3300034792 curatus Q96EB6 23411 SIRT1 Homo sapiens 9606 Comment/tissue specificity Expressed in adult heart, brain, placenta, lung, liver skeletal muscle, kidney, pancreas, spleen, thymus, prostate, testis, ovary, small intestine, colon, and leukocyte. Expressed in fetal brain, lung liver, kidney, heart, spleen, thymus, and skeletal muscle. liver UBERON:0002107 Y Y ECO:0000006 PubMed:10381378 UniProtKB DGA, AAE 3300034793 curatus Q96EB6 23411 SIRT1 Homo sapiens 9606 Comment/tissue specificity Expressed in adult heart, brain, placenta, lung, liver skeletal muscle, kidney, pancreas, spleen, thymus, prostate, testis, ovary, small intestine, colon, and leukocyte. Expressed in fetal brain, lung liver, kidney, heart, spleen, thymus, and skeletal muscle. kidney BTO:0000671 Y Y ECO:0000006 PubMed:10381378 UniProtKB DGA, AAE 3300034794 curatus Q96EB6 23411 SIRT1 Homo sapiens 9606 Comment/tissue specificity Expressed in adult heart, brain, placenta, lung, liver skeletal muscle, kidney, pancreas, spleen, thymus, prostate, testis, ovary, small intestine, colon, and leukocyte. Expressed in fetal brain, lung liver, kidney, heart, spleen, thymus, and skeletal muscle. kidney UBERON:0002113 Y Y ECO:0000006 PubMed:10381378 UniProtKB DGA, AAE 3300034795 curatus Q96EB6 23411 SIRT1 Homo sapiens 9606 Comment/tissue specificity Expressed in adult heart, brain, placenta, lung, liver skeletal muscle, kidney, pancreas, spleen, thymus, prostate, testis, ovary, small intestine, colon, and leukocyte. Expressed in fetal brain, lung liver, kidney, heart, spleen, thymus, and skeletal muscle. skeletal muscle tissue UBERON:0001134 fetus BTO:0000449 Y Y ECO:0000006 PubMed:10381378 UniProtKB DGA, AAE 3300034796 curatus Q96EB6 23411 SIRT1 Homo sapiens 9606 Comment/tissue specificity Expressed in adult heart, brain, placenta, lung, liver skeletal muscle, kidney, pancreas, spleen, thymus, prostate, testis, ovary, small intestine, colon, and leukocyte. Expressed in fetal brain, lung liver, kidney, heart, spleen, thymus, and skeletal muscle. skeletal muscle BTO:0001103 fetus BTO:0000449 Y Y ECO:0000006 PubMed:10381378 UniProtKB DGA, AAE 3300034797 curatus Q96EB6 23411 SIRT1 Homo sapiens 9606 Comment/tissue specificity Expressed in adult heart, brain, placenta, lung, liver skeletal muscle, kidney, pancreas, spleen, thymus, prostate, testis, ovary, small intestine, colon, and leukocyte. Expressed in fetal brain, lung liver, kidney, heart, spleen, thymus, and skeletal muscle. thymus BTO:0001374 fetus BTO:0000449 Y Y ECO:0000006 PubMed:10381378 UniProtKB DGA, AAE 3300034798 curatus Q96EB6 23411 SIRT1 Homo sapiens 9606 Comment/tissue specificity Expressed in adult heart, brain, placenta, lung, liver skeletal muscle, kidney, pancreas, spleen, thymus, prostate, testis, ovary, small intestine, colon, and leukocyte. Expressed in fetal brain, lung liver, kidney, heart, spleen, thymus, and skeletal muscle. thymus UBERON:0002370 fetus BTO:0000449 Y Y ECO:0000006 PubMed:10381378 UniProtKB DGA, AAE 3300034799 curatus Q96EB6 23411 SIRT1 Homo sapiens 9606 Comment/tissue specificity Expressed in adult heart, brain, placenta, lung, liver skeletal muscle, kidney, pancreas, spleen, thymus, prostate, testis, ovary, small intestine, colon, and leukocyte. Expressed in fetal brain, lung liver, kidney, heart, spleen, thymus, and skeletal muscle. heart BTO:0000562 fetus BTO:0000449 Y Y ECO:0000006 PubMed:10381378 UniProtKB DGA, AAE 3300034800 curatus Q96EB6 23411 SIRT1 Homo sapiens 9606 Comment/tissue specificity Expressed in adult heart, brain, placenta, lung, liver skeletal muscle, kidney, pancreas, spleen, thymus, prostate, testis, ovary, small intestine, colon, and leukocyte. Expressed in fetal brain, lung liver, kidney, heart, spleen, thymus, and skeletal muscle. heart UBERON:0000948 fetus BTO:0000449 Y Y ECO:0000006 PubMed:10381378 UniProtKB DGA, AAE 3300034801 curatus Q96EB6 23411 SIRT1 Homo sapiens 9606 Comment/tissue specificity Expressed in adult heart, brain, placenta, lung, liver skeletal muscle, kidney, pancreas, spleen, thymus, prostate, testis, ovary, small intestine, colon, and leukocyte. Expressed in fetal brain, lung liver, kidney, heart, spleen, thymus, and skeletal muscle. spleen BTO:0001281 fetus BTO:0000449 Y Y ECO:0000006 PubMed:10381378 UniProtKB DGA, AAE 3300034802 curatus Q96EB6 23411 SIRT1 Homo sapiens 9606 Comment/tissue specificity Expressed in adult heart, brain, placenta, lung, liver skeletal muscle, kidney, pancreas, spleen, thymus, prostate, testis, ovary, small intestine, colon, and leukocyte. Expressed in fetal brain, lung liver, kidney, heart, spleen, thymus, and skeletal muscle. spleen UBERON:0002106 fetus BTO:0000449 Y Y ECO:0000006 PubMed:10381378 UniProtKB DGA, AAE 3300034803 curatus Q96EB6 23411 SIRT1 Homo sapiens 9606 Comment/tissue specificity Expressed in adult heart, brain, placenta, lung, liver skeletal muscle, kidney, pancreas, spleen, thymus, prostate, testis, ovary, small intestine, colon, and leukocyte. Expressed in fetal brain, lung liver, kidney, heart, spleen, thymus, and skeletal muscle. brain BTO:0000142 fetus BTO:0000449 Y Y ECO:0000006 PubMed:10381378 UniProtKB DGA, AAE 3300034804 curatus Q96EB6 23411 SIRT1 Homo sapiens 9606 Comment/tissue specificity Expressed in adult heart, brain, placenta, lung, liver skeletal muscle, kidney, pancreas, spleen, thymus, prostate, testis, ovary, small intestine, colon, and leukocyte. Expressed in fetal brain, lung liver, kidney, heart, spleen, thymus, and skeletal muscle. brain UBERON:0000955 fetus BTO:0000449 Y Y ECO:0000006 PubMed:10381378 UniProtKB DGA, AAE 3300034805 curatus Q96EB6 23411 SIRT1 Homo sapiens 9606 Comment/tissue specificity Expressed in adult heart, brain, placenta, lung, liver skeletal muscle, kidney, pancreas, spleen, thymus, prostate, testis, ovary, small intestine, colon, and leukocyte. Expressed in fetal brain, lung liver, kidney, heart, spleen, thymus, and skeletal muscle. lung BTO:0000763 fetus BTO:0000449 Y Y ECO:0000006 PubMed:10381378 UniProtKB DGA, AAE 3300034806 curatus Q96EB6 23411 SIRT1 Homo sapiens 9606 Comment/tissue specificity Expressed in adult heart, brain, placenta, lung, liver skeletal muscle, kidney, pancreas, spleen, thymus, prostate, testis, ovary, small intestine, colon, and leukocyte. Expressed in fetal brain, lung liver, kidney, heart, spleen, thymus, and skeletal muscle. lung UBERON:0002048 fetus BTO:0000449 Y Y ECO:0000006 PubMed:10381378 UniProtKB DGA, AAE 3300034807 curatus Q96EB6 23411 SIRT1 Homo sapiens 9606 Comment/tissue specificity Expressed in adult heart, brain, placenta, lung, liver skeletal muscle, kidney, pancreas, spleen, thymus, prostate, testis, ovary, small intestine, colon, and leukocyte. Expressed in fetal brain, lung liver, kidney, heart, spleen, thymus, and skeletal muscle. liver BTO:0000759 fetus BTO:0000449 Y Y ECO:0000006 PubMed:10381378 UniProtKB DGA, AAE 3300034808 curatus Q96EB6 23411 SIRT1 Homo sapiens 9606 Comment/tissue specificity Expressed in adult heart, brain, placenta, lung, liver skeletal muscle, kidney, pancreas, spleen, thymus, prostate, testis, ovary, small intestine, colon, and leukocyte. Expressed in fetal brain, lung liver, kidney, heart, spleen, thymus, and skeletal muscle. liver UBERON:0002107 fetus BTO:0000449 Y Y ECO:0000006 PubMed:10381378 UniProtKB DGA, AAE 3300034809 curatus Q96EB6 23411 SIRT1 Homo sapiens 9606 Comment/tissue specificity Expressed in adult heart, brain, placenta, lung, liver skeletal muscle, kidney, pancreas, spleen, thymus, prostate, testis, ovary, small intestine, colon, and leukocyte. Expressed in fetal brain, lung liver, kidney, heart, spleen, thymus, and skeletal muscle. kidney BTO:0000671 fetus BTO:0000449 Y Y ECO:0000006 PubMed:10381378 UniProtKB DGA, AAE 3300034810 curatus Q96EB6 23411 SIRT1 Homo sapiens 9606 Comment/tissue specificity Expressed in adult heart, brain, placenta, lung, liver skeletal muscle, kidney, pancreas, spleen, thymus, prostate, testis, ovary, small intestine, colon, and leukocyte. Expressed in fetal brain, lung liver, kidney, heart, spleen, thymus, and skeletal muscle. kidney UBERON:0002113 fetus BTO:0000449 Y Y ECO:0000006 PubMed:10381378 UniProtKB DGA, AAE 3300034811 curatus Q96EB6 23411 SIRT1 Homo sapiens 9606 Comment/tissue specificity Expressed in adult heart, brain, placenta, lung, liver skeletal muscle, kidney, pancreas, spleen, thymus, prostate, testis, ovary, small intestine, colon, and leukocyte. Expressed in fetal brain, lung liver, kidney, heart, spleen, thymus, and skeletal muscle. ovary BTO:0000975 Y Y ECO:0000006 PubMed:10381378 UniProtKB DGA, AAE 3300034812 curatus Q96EB6 23411 SIRT1 Homo sapiens 9606 Comment/tissue specificity Expressed in adult heart, brain, placenta, lung, liver skeletal muscle, kidney, pancreas, spleen, thymus, prostate, testis, ovary, small intestine, colon, and leukocyte. Expressed in fetal brain, lung liver, kidney, heart, spleen, thymus, and skeletal muscle. placenta BTO:0001078 Y Y ECO:0000006 PubMed:10381378 UniProtKB DGA, AAE 3300034813 curatus Q96EB6 23411 SIRT1 Homo sapiens 9606 Comment/tissue specificity Expressed in adult heart, brain, placenta, lung, liver skeletal muscle, kidney, pancreas, spleen, thymus, prostate, testis, ovary, small intestine, colon, and leukocyte. Expressed in fetal brain, lung liver, kidney, heart, spleen, thymus, and skeletal muscle. female gonad UBERON:0000992 Y Y ECO:0000006 PubMed:10381378 UniProtKB DGA, AAE 3300034814 curatus Q96EB6 23411 SIRT1 Homo sapiens 9606 Comment/tissue specificity Expressed in adult heart, brain, placenta, lung, liver skeletal muscle, kidney, pancreas, spleen, thymus, prostate, testis, ovary, small intestine, colon, and leukocyte. Expressed in fetal brain, lung liver, kidney, heart, spleen, thymus, and skeletal muscle. placenta UBERON:0001987 Y Y ECO:0000006 PubMed:10381378 UniProtKB DGA, AAE 3300034815 curatus Q96EB6 23411 SIRT1 Homo sapiens 9606 Comment/tissue specificity Expressed in adult heart, brain, placenta, lung, liver skeletal muscle, kidney, pancreas, spleen, thymus, prostate, testis, ovary, small intestine, colon, and leukocyte. Expressed in fetal brain, lung liver, kidney, heart, spleen, thymus, and skeletal muscle. small intestine BTO:0000651 Y Y ECO:0000006 PubMed:10381378 UniProtKB DGA, AAE 3300034816 curatus Q96EB6 23411 SIRT1 Homo sapiens 9606 Comment/tissue specificity Expressed in adult heart, brain, placenta, lung, liver skeletal muscle, kidney, pancreas, spleen, thymus, prostate, testis, ovary, small intestine, colon, and leukocyte. Expressed in fetal brain, lung liver, kidney, heart, spleen, thymus, and skeletal muscle. pancreas BTO:0000988 Y Y ECO:0000006 PubMed:10381378 UniProtKB DGA, AAE 3300034817 curatus Q96EB6 23411 SIRT1 Homo sapiens 9606 Comment/tissue specificity Expressed in adult heart, brain, placenta, lung, liver skeletal muscle, kidney, pancreas, spleen, thymus, prostate, testis, ovary, small intestine, colon, and leukocyte. Expressed in fetal brain, lung liver, kidney, heart, spleen, thymus, and skeletal muscle. small intestine UBERON:0002108 Y Y ECO:0000006 PubMed:10381378 UniProtKB DGA, AAE 3300034818 curatus Q96EB6 23411 SIRT1 Homo sapiens 9606 Comment/tissue specificity Expressed in adult heart, brain, placenta, lung, liver skeletal muscle, kidney, pancreas, spleen, thymus, prostate, testis, ovary, small intestine, colon, and leukocyte. Expressed in fetal brain, lung liver, kidney, heart, spleen, thymus, and skeletal muscle. pancreas UBERON:0001264 Y Y ECO:0000006 PubMed:10381378 UniProtKB DGA, AAE 3300034819 curatus Q96EB6 23411 SIRT1 Homo sapiens 9606 Comment/tissue specificity Expressed in adult heart, brain, placenta, lung, liver skeletal muscle, kidney, pancreas, spleen, thymus, prostate, testis, ovary, small intestine, colon, and leukocyte. Expressed in fetal brain, lung liver, kidney, heart, spleen, thymus, and skeletal muscle. colon BTO:0000269 Y Y ECO:0000006 PubMed:10381378 UniProtKB DGA, AAE 3300034820 curatus Q96EB6 23411 SIRT1 Homo sapiens 9606 Comment/tissue specificity Expressed in adult heart, brain, placenta, lung, liver skeletal muscle, kidney, pancreas, spleen, thymus, prostate, testis, ovary, small intestine, colon, and leukocyte. Expressed in fetal brain, lung liver, kidney, heart, spleen, thymus, and skeletal muscle. prostate gland BTO:0001129 Y Y ECO:0000006 PubMed:10381378 UniProtKB #Copied from SIRT1, anno: 34813 DGA, AAE 3300034821 curatus Q96EB6 23411 SIRT1 Homo sapiens 9606 Comment/tissue specificity Expressed in adult heart, brain, placenta, lung, liver skeletal muscle, kidney, pancreas, spleen, thymus, prostate, testis, ovary, small intestine, colon, and leukocyte. Expressed in fetal brain, lung liver, kidney, heart, spleen, thymus, and skeletal muscle. colon UBERON:0001155 Y Y ECO:0000006 PubMed:10381378 UniProtKB DGA, AAE 3300034822 curatus Q96EB6 23411 SIRT1 Homo sapiens 9606 Comment/tissue specificity Expressed in adult heart, brain, placenta, lung, liver skeletal muscle, kidney, pancreas, spleen, thymus, prostate, testis, ovary, small intestine, colon, and leukocyte. Expressed in fetal brain, lung liver, kidney, heart, spleen, thymus, and skeletal muscle. prostate gland UBERON:0002367 Y Y ECO:0000006 PubMed:10381378 UniProtKB DGA, AAE 3300034823 curatus Q96EB6 23411 SIRT1 Homo sapiens 9606 Comment/tissue specificity Expressed in adult heart, brain, placenta, lung, liver skeletal muscle, kidney, pancreas, spleen, thymus, prostate, testis, ovary, small intestine, colon, and leukocyte. Expressed in fetal brain, lung liver, kidney, heart, spleen, thymus, and skeletal muscle. leukocyte BTO:0000751 leukocyte CL:0000738 Y Y ECO:0000006 PubMed:10381378 UniProtKB DGA, AAE 3300034824 curatus Q96EB6 23411 SIRT1 Homo sapiens 9606 Comment/tissue specificity Expressed in adult heart, brain, placenta, lung, liver skeletal muscle, kidney, pancreas, spleen, thymus, prostate, testis, ovary, small intestine, colon, and leukocyte. Expressed in fetal brain, lung liver, kidney, heart, spleen, thymus, and skeletal muscle. testis BTO:0001363 Y Y ECO:0000006 PubMed:10381378 UniProtKB DGA, AAE 3300034825 curatus Q96EB6 23411 SIRT1 Homo sapiens 9606 Comment/tissue specificity Expressed in adult heart, brain, placenta, lung, liver skeletal muscle, kidney, pancreas, spleen, thymus, prostate, testis, ovary, small intestine, colon, and leukocyte. Expressed in fetal brain, lung liver, kidney, heart, spleen, thymus, and skeletal muscle. testis UBERON:0000473 Y Y ECO:0000006 PubMed:10381378 UniProtKB DGA, AAE 3300034827