psui3905/ncbi_genes_summary huggingface dataset:
EBF4, Official Symbol EBF4provided by HGNC Official Full Name EBF family member 4provided by HGNC Primary source HGNC:HGNC:29278 See related Ensembl:ENSG00000088881 MIM:609935; AllianceGenome:HGNC:29278 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as COE4; OE-4; O/E-4 Summary EBF4 belongs to the conserved Olf/EBF family of helix-loop-helix transcription factors, members of which play important roles in neural development and B-cell maturation (Wang et al., 2002 [PubMed 12139918]).[supplied by OMIM, Mar 2008] Expression Broad expression in prostate (RPKM 9.6), endometrium (RPKM 8.9) and 24 other tissues See more Orthologs mouse all
EBI3, Official Symbol EBI3provided by HGNC Official Full Name Epstein-Barr virus induced 3provided by HGNC Primary source HGNC:HGNC:3129 See related Ensembl:ENSG00000105246 MIM:605816; AllianceGenome:HGNC:3129 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as IL27B; IL35B; IL-27B Summary This gene was identified by its induced expression in B lymphocytes in response Epstein-Barr virus infection. It encodes a secreted glycoprotein belonging to the hematopoietin receptor family, and heterodimerizes with a 28 kDa protein to form interleukin 27 (IL-27). IL-27 regulates T cell and inflammatory responses, in part by activating the Jak/STAT pathway of CD4+ T cells. [provided by RefSeq, Sep 2008] Expression Biased expression in placenta (RPKM 82.3), spleen (RPKM 9.3) and 2 other tissues See more Orthologs mouse all
EBLN1, Official Symbol EBLN1provided by HGNC Official Full Name endogenous Bornavirus like nucleoprotein 1provided by HGNC Primary source HGNC:HGNC:39430 See related Ensembl:ENSG00000223601 MIM:613249; AllianceGenome:HGNC:39430 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as EBLN-1 Orthologs all
EBLN2, Official Symbol EBLN2provided by HGNC Official Full Name endogenous Bornavirus like nucleoprotein 2provided by HGNC Primary source HGNC:HGNC:25493 See related Ensembl:ENSG00000255423 MIM:613250; AllianceGenome:HGNC:25493 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as EBLN-2 Orthologs all
EBLN3P, Official Symbol EBLN3Pprovided by HGNC Official Full Name endogenous Bornavirus like nucleoprotein 3, pseudogeneprovided by HGNC Primary source HGNC:HGNC:50682 See related Ensembl:ENSG00000281649 AllianceGenome:HGNC:50682 Gene type pseudo RefSeq status PREDICTED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as EBLN3 Expression Ubiquitous expression in lymph node (RPKM 34.1), thyroid (RPKM 25.0) and 25 other tissues See more
EBNA1BP2, Official Symbol EBNA1BP2provided by HGNC Official Full Name EBNA1 binding protein 2provided by HGNC Primary source HGNC:HGNC:15531 See related Ensembl:ENSG00000117395 MIM:614443; AllianceGenome:HGNC:15531 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as P40; EBP2; NOBP Summary Enables RNA binding activity. Predicted to be involved in rRNA processing and ribosomal large subunit biogenesis. Located in chromosome and nucleolus. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 24.1), thyroid (RPKM 21.0) and 25 other tissues See more Orthologs mouse all
EBP, Official Symbol EBPprovided by HGNC Official Full Name EBP cholestenol delta-isomeraseprovided by HGNC Primary source HGNC:HGNC:3133 See related Ensembl:ENSG00000147155 MIM:300205; AllianceGenome:HGNC:3133 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CPX; CHO2; CPXD; MEND; CDPX2 Summary The protein encoded by this gene is an integral membrane protein of the endoplasmic reticulum. It is a high affinity binding protein for the antiischemic phenylalkylamine Ca2+ antagonist [3H]emopamil and the photoaffinity label [3H]azidopamil. It is similar to sigma receptors and may be a member of a superfamily of high affinity drug-binding proteins in the endoplasmic reticulum of different tissues. This protein shares structural features with bacterial and eukaryontic drug transporting proteins. It has four putative transmembrane segments and contains two conserved glutamate residues which may be involved in the transport of cationic amphiphilics. Another prominent feature of this protein is its high content of aromatic amino acid residues (>23%) in its transmembrane segments. These aromatic amino acid residues have been suggested to be involved in the drug transport by the P-glycoprotein. Mutations in this gene cause Chondrodysplasia punctata 2 (CDPX2; also known as Conradi-Hunermann syndrome). [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in liver (RPKM 87.3), duodenum (RPKM 37.6) and 24 other tissues See more Orthologs mouse all
EBPL, Official Symbol EBPLprovided by HGNC Official Full Name EBP likeprovided by HGNC Primary source HGNC:HGNC:18061 See related Ensembl:ENSG00000123179 MIM:617335; AllianceGenome:HGNC:18061 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as EBRP Summary Predicted to enable cholestenol delta-isomerase activity. Predicted to be involved in sterol metabolic process. Located in endoplasmic reticulum. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in liver (RPKM 20.9), adrenal (RPKM 15.0) and 25 other tissues See more Orthologs mouse all
ECD, Official Symbol ECDprovided by HGNC Official Full Name ecdysoneless cell cycle regulatorprovided by HGNC Primary source HGNC:HGNC:17029 See related Ensembl:ENSG00000122882 MIM:616464; AllianceGenome:HGNC:17029 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as GCR2; SGT1; HSGT1 Summary Enables histone acetyltransferase binding activity. Involved in positive regulation of transcription by RNA polymerase II. Located in cytosol and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 14.0), thyroid (RPKM 12.4) and 25 other tissues See more Orthologs mouse all
ECE1, Official Symbol ECE1provided by HGNC Official Full Name endothelin converting enzyme 1provided by HGNC Primary source HGNC:HGNC:3146 See related Ensembl:ENSG00000117298 MIM:600423; AllianceGenome:HGNC:3146 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as ECE Summary The protein encoded by this gene is involved in proteolytic processing of endothelin precursors to biologically active peptides. Mutations in this gene are associated with Hirschsprung disease, cardiac defects and autonomic dysfunction. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene.[provided by RefSeq, Sep 2009] Expression Ubiquitous expression in adrenal (RPKM 34.3), fat (RPKM 29.1) and 25 other tissues See more Orthologs mouse all
ECE1-AS1, Official Symbol ECE1-AS1provided by HGNC Official Full Name ECE1 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:40203 See related Ensembl:ENSG00000231105 AllianceGenome:HGNC:40203 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Low expression observed in reference dataset See more
ECE2, Official Symbol ECE2provided by HGNC Official Full Name endothelin converting enzyme 2provided by HGNC Primary source HGNC:HGNC:13275 See related Ensembl:ENSG00000145194 MIM:610145; AllianceGenome:HGNC:13275 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as EEF1AKMT4 Summary Enables metalloendopeptidase activity. Involved in peptide hormone processing. Located in cytoplasmic vesicle membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in adrenal (RPKM 4.6), brain (RPKM 3.0) and 22 other tissues See more Orthologs all
ECEL1, Official Symbol ECEL1provided by HGNC Official Full Name endothelin converting enzyme like 1provided by HGNC Primary source HGNC:HGNC:3147 See related Ensembl:ENSG00000171551 MIM:605896; AllianceGenome:HGNC:3147 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as XCE; DA5D; DINE; ECEX Summary This gene encodes a member of the M13 family of endopeptidases. Members of this family are zinc-containing type II integral-membrane proteins that are important regulators of neuropeptide and peptide hormone activity. Mutations in this gene are associated with autosomal recessive distal arthrogryposis, type 5D. This gene has multiple pseudogenes on chromosome 2. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2014] Expression Biased expression in ovary (RPKM 52.2) and spleen (RPKM 2.2) See more Orthologs mouse all
ECEL1P2, Official Symbol ECEL1P2provided by HGNC Official Full Name endothelin converting enzyme like 1 pseudogene 2provided by HGNC Primary source HGNC:HGNC:14019 See related Ensembl:ENSG00000290681 AllianceGenome:HGNC:14019 Gene type pseudo RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as ECEL2
ECH1, Official Symbol ECH1provided by HGNC Official Full Name enoyl-CoA hydratase 1provided by HGNC Primary source HGNC:HGNC:3149 See related Ensembl:ENSG00000104823 MIM:600696; AllianceGenome:HGNC:3149 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as HPXEL Summary This gene encodes a member of the hydratase/isomerase superfamily. The gene product shows high sequence similarity to enoyl-coenzyme A (CoA) hydratases of several species, particularly within a conserved domain characteristic of these proteins. The encoded protein, which contains a C-terminal peroxisomal targeting sequence, localizes to the peroxisome. The rat ortholog, which localizes to the matrix of both the peroxisome and mitochondria, can isomerize 3-trans,5-cis-dienoyl-CoA to 2-trans,4-trans-dienoyl-CoA, indicating that it is a delta3,5-delta2,4-dienoyl-CoA isomerase. This enzyme functions in the auxiliary step of the fatty acid beta-oxidation pathway. Expression of the rat gene is induced by peroxisome proliferators. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in liver (RPKM 139.0), fat (RPKM 120.0) and 25 other tissues See more Orthologs mouse all
ECHDC1, Official Symbol ECHDC1provided by HGNC Official Full Name ethylmalonyl-CoA decarboxylase 1provided by HGNC Primary source HGNC:HGNC:21489 See related Ensembl:ENSG00000093144 MIM:612136; AllianceGenome:HGNC:21489 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as MMCD; HEL-S-76; dJ351K20.2 Summary Predicted to enable carboxy-lyase activity and enoyl-CoA hydratase activity. Predicted to be involved in fatty acid beta-oxidation. Predicted to be integral component of membrane. Predicted to be active in cytosol. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in fat (RPKM 43.4), kidney (RPKM 24.8) and 25 other tissues See more Orthologs mouse all
ECHDC2, Official Symbol ECHDC2provided by HGNC Official Full Name enoyl-CoA hydratase domain containing 2provided by HGNC Primary source HGNC:HGNC:23408 See related Ensembl:ENSG00000121310 AllianceGenome:HGNC:23408 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary Predicted to enable enoyl-CoA hydratase activity. Predicted to be involved in fatty acid beta-oxidation. Predicted to be active in mitochondrion. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in liver (RPKM 18.0), ovary (RPKM 13.9) and 25 other tissues See more Orthologs mouse all
ECHDC3, Official Symbol ECHDC3provided by HGNC Official Full Name enoyl-CoA hydratase domain containing 3provided by HGNC Primary source HGNC:HGNC:23489 See related Ensembl:ENSG00000134463 AllianceGenome:HGNC:23489 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary Predicted to enable enoyl-CoA hydratase activity. Involved in positive regulation of cellular response to insulin stimulus. Predicted to be active in mitochondrion. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in fat (RPKM 46.4), kidney (RPKM 40.8) and 17 other tissues See more Orthologs mouse all
ECHS1, Official Symbol ECHS1provided by HGNC Official Full Name enoyl-CoA hydratase, short chain 1provided by HGNC Primary source HGNC:HGNC:3151 See related Ensembl:ENSG00000127884 MIM:602292; AllianceGenome:HGNC:3151 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as SCEH; mECH; mECH1; ECHS1D Summary The protein encoded by this gene functions in the second step of the mitochondrial fatty acid beta-oxidation pathway. It catalyzes the hydration of 2-trans-enoyl-coenzyme A (CoA) intermediates to L-3-hydroxyacyl-CoAs. The gene product is a member of the hydratase/isomerase superfamily. It localizes to the mitochondrial matrix. Transcript variants utilizing alternative transcription initiation sites have been described in the literature. [provided by RefSeq, Jul 2008] Expression Broad expression in liver (RPKM 317.5), kidney (RPKM 253.4) and 23 other tissues See more Orthologs mouse all
ECI1, Official Symbol ECI1provided by HGNC Official Full Name enoyl-CoA delta isomerase 1provided by HGNC Primary source HGNC:HGNC:2703 See related Ensembl:ENSG00000167969 MIM:600305; AllianceGenome:HGNC:2703 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as DCI Summary This gene encodes a member of the hydratase/isomerase superfamily. The protein encoded is a key mitochondrial enzyme involved in beta-oxidation of unsaturated fatty acids. It catalyzes the transformation of 3-cis and 3-trans-enoyl-CoA esters arising during the stepwise degradation of cis-, mono-, and polyunsaturated fatty acids to the 2-trans-enoyl-CoA intermediates. Alternatively spliced transcript variants have been described. [provided by RefSeq, May 2010] Expression Ubiquitous expression in kidney (RPKM 39.8), colon (RPKM 22.9) and 25 other tissues See more Orthologs mouse all
ECI2, Official Symbol ECI2provided by HGNC Official Full Name enoyl-CoA delta isomerase 2provided by HGNC Primary source HGNC:HGNC:14601 See related Ensembl:ENSG00000198721 MIM:608024; AllianceGenome:HGNC:14601 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as DRS1; PECI; ACBD2; DRS-1; HCA88; dJ1013A10.3 Summary This gene encodes a member of the hydratase/isomerase superfamily. The protein encoded is a key mitochondrial enzyme involved in beta-oxidation of unsaturated fatty acids. It catalyzes the transformation of 3-cis and 3-trans-enoyl-CoA esters arising during the stepwise degradation of cis-, mono-, and polyunsaturated fatty acids to the 2-trans-enoyl-CoA intermediates. Alternatively spliced transcript variants have been described. [provided by RefSeq, Aug 2011] Expression Ubiquitous expression in liver (RPKM 93.4), kidney (RPKM 88.4) and 25 other tissues See more Orthologs all
ECI2-DT, Official Symbol ECI2-DTprovided by HGNC Official Full Name ECI2 divergent transcriptprovided by HGNC Primary source HGNC:HGNC:54425 See related Ensembl:ENSG00000234817 AllianceGenome:HGNC:54425 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Low expression observed in reference dataset See more
ECM1, Official Symbol ECM1provided by HGNC Official Full Name extracellular matrix protein 1provided by HGNC Primary source HGNC:HGNC:3153 See related Ensembl:ENSG00000143369 MIM:602201; AllianceGenome:HGNC:3153 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as URBWD Summary This gene encodes a soluble protein that is involved in endochondral bone formation, angiogenesis, and tumor biology. It also interacts with a variety of extracellular and structural proteins, contributing to the maintenance of skin integrity and homeostasis. Mutations in this gene are associated with lipoid proteinosis disorder (also known as hyalinosis cutis et mucosae or Urbach-Wiethe disease) that is characterized by generalized thickening of skin, mucosae and certain viscera. Alternatively spliced transcript variants encoding distinct isoforms have been described for this gene. [provided by RefSeq, Feb 2011] Expression Biased expression in esophagus (RPKM 332.0), gall bladder (RPKM 47.3) and 3 other tissues See more Orthologs mouse all
ECM1P1, Official Symbol ECM1P1provided by HGNC Official Full Name extracellular matrix protein 1 pseudogene 1provided by HGNC Primary source HGNC:HGNC:49736 See related Ensembl:ENSG00000270639 AllianceGenome:HGNC:49736 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
ECM1P2, Official Symbol ECM1P2provided by HGNC Official Full Name extracellular matrix protein 1 pseudogene 2provided by HGNC Primary source HGNC:HGNC:49737 See related Ensembl:ENSG00000249995 AllianceGenome:HGNC:49737 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
ECM2, Official Symbol ECM2provided by HGNC Official Full Name extracellular matrix protein 2provided by HGNC Primary source HGNC:HGNC:3154 See related Ensembl:ENSG00000106823 MIM:603479; AllianceGenome:HGNC:3154 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary ECM2 encodes extracellular matrix protein 2, so named because it shares extensive similarity with known extracelluar matrix proteins. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2010] Expression Broad expression in fat (RPKM 50.1), ovary (RPKM 21.0) and 14 other tissues See more Orthologs mouse all
ECPAS, Official Symbol ECPASprovided by HGNC Official Full Name Ecm29 proteasome adaptor and scaffoldprovided by HGNC Primary source HGNC:HGNC:29020 See related Ensembl:ENSG00000136813 MIM:616694; AllianceGenome:HGNC:29020 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as ECM29; KIAA0368 Summary Enables proteasome binding activity. Involved in ubiquitin-dependent ERAD pathway. Located in several cellular components, including centrosome; cytoplasmic vesicle; and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 17.3), fat (RPKM 15.6) and 25 other tissues See more Orthologs mouse all
ECRG4, Official Symbol ECRG4provided by HGNC Official Full Name ECRG4 augurin precursorprovided by HGNC Primary source HGNC:HGNC:24642 See related Ensembl:ENSG00000119147 MIM:611752; AllianceGenome:HGNC:24642 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as C2orf40 Summary Enables neuropeptide hormone activity. Involved in neuropeptide signaling pathway; positive regulation of hormone secretion; and vasopressin secretion. Located in apical plasma membrane; dense core granule; and extracellular space. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in fat (RPKM 29.6), thyroid (RPKM 20.4) and 17 other tissues See more Orthologs mouse all
ECSCR, Official Symbol ECSCRprovided by HGNC Official Full Name endothelial cell surface expressed chemotaxis and apoptosis regulatorprovided by HGNC Primary source HGNC:HGNC:35454 See related Ensembl:ENSG00000249751 MIM:615736; AllianceGenome:HGNC:35454 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as ARIA; ECSM2 Summary The protein encoded by this gene is primarily found in endothelial cells and blood vessels, where it is involved in cell shape changes and EGF-induced cell migration. It can enhance the activation of vascular endothelial growth factor receptor-2/kinase insert domain receptor and also promote the proteolysis of internalized kinase insert domain receptor. This gene may play a role in angiogenesis-related diseases. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014] Annotation information Note: This gene aligns across a gap in the GRCh38 reference genome assembly, and therefore, the 5' end of this gene was annotated on NT_029289.12 and the 3' end was annotated on NT_034772.7 in NCBI's Homo sapiens Annotation Release 106. [17 Jun 2014] Annotation category: suggests misassembly Expression Broad expression in placenta (RPKM 24.9), lung (RPKM 23.6) and 22 other tissues See more Orthologs mouse all
ECSIT, Official Symbol ECSITprovided by HGNC Official Full Name ECSIT signaling integratorprovided by HGNC Primary source HGNC:HGNC:29548 See related Ensembl:ENSG00000130159 MIM:608388; AllianceGenome:HGNC:29548 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as SITPEC Summary Predicted to enable DNA-binding transcription factor activity and chromatin binding activity. Involved in regulation of oxidoreductase activity and regulation of protein complex stability. Located in cytosol; mitochondrion; and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in heart (RPKM 25.2), ovary (RPKM 18.4) and 25 other tissues See more Orthologs mouse all
ECT2, Official Symbol ECT2provided by HGNC Official Full Name epithelial cell transforming 2provided by HGNC Primary source HGNC:HGNC:3155 See related Ensembl:ENSG00000114346 MIM:600586; AllianceGenome:HGNC:3155 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as ARHGEF31 Summary The protein encoded by this gene is a guanine nucleotide exchange factor and transforming protein that is related to Rho-specific exchange factors and yeast cell cycle regulators. The expression of this gene is elevated with the onset of DNA synthesis and remains elevated during G2 and M phases. In situ hybridization analysis showed that expression is at a high level in cells undergoing mitosis in regenerating liver. Thus, this protein is expressed in a cell cycle-dependent manner during liver regeneration, and is thought to have an important role in the regulation of cytokinesis. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2017] Expression Broad expression in testis (RPKM 6.4), colon (RPKM 5.0) and 24 other tissues See more Orthologs mouse all
ECT2L, Official Symbol ECT2Lprovided by HGNC Official Full Name epithelial cell transforming 2 likeprovided by HGNC Primary source HGNC:HGNC:21118 See related Ensembl:ENSG00000203734 AllianceGenome:HGNC:21118 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as LFDH; FBXO49; C6orf91; ARHGEF32; dJ509I19.2; dJ509I19.3; dJ509I19.5 Summary Predicted to enable guanyl-nucleotide exchange factor activity. Predicted to be involved in regulation of catalytic activity. [provided by Alliance of Genome Resources, Apr 2022] Expression Low expression observed in reference dataset See more Orthologs mouse all
EDA, Official Symbol EDAprovided by HGNC Official Full Name ectodysplasin Aprovided by HGNC Primary source HGNC:HGNC:3157 See related Ensembl:ENSG00000158813 MIM:300451; AllianceGenome:HGNC:3157 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as ED1; HED; EDA1; EDA2; HED1; ODT1; XHED; ECTD1; XLHED; ED1-A1; ED1-A2; EDA-A1; EDA-A2; TNLG7C; STHAGX1 Summary The protein encoded by this gene is a type II membrane protein that can be cleaved by furin to produce a secreted form. The encoded protein, which belongs to the tumor necrosis factor family, acts as a homotrimer and may be involved in cell-cell signaling during the development of ectodermal organs. Defects in this gene are a cause of ectodermal dysplasia, anhidrotic, which is also known as X-linked hypohidrotic ectodermal dysplasia. Several transcript variants encoding many different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Expression Broad expression in adrenal (RPKM 1.8), thyroid (RPKM 1.7) and 24 other tissues See more Orthologs mouse all
EDA2R, Official Symbol EDA2Rprovided by HGNC Official Full Name ectodysplasin A2 receptorprovided by HGNC Primary source HGNC:HGNC:17756 See related Ensembl:ENSG00000131080 MIM:300276; AllianceGenome:HGNC:17756 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as XEDAR; EDAA2R; EDA-A2R; TNFRSF27 Summary The protein encoded by this gene is a type III transmembrane protein of the TNFR (tumor necrosis factor receptor) superfamily, and contains cysteine-rich repeats and a single transmembrane domain. This protein binds to the EDA-A2 isoform of ectodysplasin, which plays an important role in maintenance of hair and teeth. Alternatively spliced transcript variants encodes distinct protein isoforms. [provided by RefSeq, Apr 2016] Expression Broad expression in thyroid (RPKM 3.4), ovary (RPKM 3.3) and 22 other tissues See more Orthologs mouse all
EDAR, Official Symbol EDARprovided by HGNC Official Full Name ectodysplasin A receptorprovided by HGNC Primary source HGNC:HGNC:2895 See related Ensembl:ENSG00000135960 MIM:604095; AllianceGenome:HGNC:2895 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as DL; ED3; ED5; ED1R; EDA3; HRM1; EDA1R; ECTD10A; ECTD10B; EDA-A1R Summary This gene encodes a member of the tumor necrosis factor receptor family. The encoded transmembrane protein is a receptor for the soluble ligand ectodysplasin A, and can activate the nuclear factor-kappaB, JNK, and caspase-independent cell death pathways. It is required for the development of hair, teeth, and other ectodermal derivatives. Mutations in this gene result in autosomal dominant and recessive forms of hypohidrotic ectodermal dysplasia. [provided by RefSeq, Jul 2008] Expression Broad expression in esophagus (RPKM 1.4), lymph node (RPKM 0.8) and 18 other tissues See more Orthologs mouse all
EDARADD, Official Symbol EDARADDprovided by HGNC Official Full Name EDAR associated via death domainprovided by HGNC Primary source HGNC:HGNC:14341 See related Ensembl:ENSG00000186197 MIM:606603; AllianceGenome:HGNC:14341 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CR; ED3; EDA3; ECTD11A; ECTD11B Summary This gene was identified by its association with ectodermal dysplasia, a genetic disorder characterized by defective development of hair, teeth, and eccrine sweat glands. The protein encoded by this gene is a death domain-containing protein, and is found to interact with EDAR, a death domain receptor known to be required for the development of hair, teeth and other ectodermal derivatives. This protein and EDAR are coexpressed in epithelial cells during the formation of hair follicles and teeth. Through its interaction with EDAR, this protein acts as an adaptor, and links the receptor to downstream signaling pathways. Two alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in urinary bladder (RPKM 9.3), kidney (RPKM 6.2) and 25 other tissues See more Orthologs mouse all
EDC3, Official Symbol EDC3provided by HGNC Official Full Name enhancer of mRNA decapping 3provided by HGNC Primary source HGNC:HGNC:26114 See related Ensembl:ENSG00000179151 MIM:609842; AllianceGenome:HGNC:26114 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as YJDC; LSM16; MRT50; YJEFN2; hYjeF_N2-15q23 Summary This gene encodes a protein that is important in mRNA degradation. The encoded protein is a component of a decapping complex that promotes efficient removal of the monomethylguanosine (m7G) cap from mRNAs, as part of the 5' to 3' mRNA decay pathway. Mutations in this gene have been identified in human patients with an autosomal recessive form of intellectual disability. [provided by RefSeq, May 2017] Expression Ubiquitous expression in testis (RPKM 14.2), ovary (RPKM 7.5) and 25 other tissues See more Orthologs mouse all
EDC4, Official Symbol EDC4provided by HGNC Official Full Name enhancer of mRNA decapping 4provided by HGNC Primary source HGNC:HGNC:17157 See related Ensembl:ENSG00000038358 MIM:606030; AllianceGenome:HGNC:17157 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as GE1; Ge-1; RCD8; HEDL5; HEDLS; RCD-8 Summary Predicted to be involved in deadenylation-independent decapping of nuclear-transcribed mRNA. Located in P-body and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 17.8), bone marrow (RPKM 15.0) and 25 other tissues See more Orthologs mouse all
EDDM13, Official Symbol EDDM13provided by HGNC Official Full Name epididymal protein 13provided by HGNC Primary source HGNC:HGNC:53168 See related Ensembl:ENSG00000267710 AllianceGenome:HGNC:53168 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary Predicted to be located in extracellular region. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Low expression observed in reference dataset See more Orthologs mouse all
EDDM3A, Official Symbol EDDM3Aprovided by HGNC Official Full Name epididymal protein 3Aprovided by HGNC Primary source HGNC:HGNC:16978 See related Ensembl:ENSG00000181562 MIM:611580; AllianceGenome:HGNC:16978 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as EP3A; HE3A; RAM1; FAM12A; HE3ALPHA; HE3-ALPHA Summary Testicular sperm are morphologically differentiated but are not progressively motile nor able to fertilize an egg. Post-testicular maturation requires exposure of spermatozoa to the microenvironment of the epididymal lumen. Spermatozoa undergo extensive changes in the epididymis, including enzymatic modifications, loss of pre-existing components and addition of new glycoproteins from epididymal secretions. These modifying proteins and enzymes are synthesized by epithelial cells lining the epididymal duct and secreted apically into the lumen, where they come into contact with, and may be absorbed onto, the sperm membranes. The proteins encoded by the genes in this cluster are synthesized and secreted by epididymal epithelial cells. [provided by RefSeq, Jul 2008] Expression Low expression observed in reference dataset See more Orthologs all
EDDM3B, Official Symbol EDDM3Bprovided by HGNC Official Full Name epididymal protein 3Bprovided by HGNC Primary source HGNC:HGNC:19223 See related Ensembl:ENSG00000181552 MIM:611582; AllianceGenome:HGNC:19223 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as EP3B; HE3B; RAM2; FAM12B; HE3-BETA Summary Testicular sperm are morphologically differentiated but are not progressively motile nor able to fertilize an egg. Post-testicular maturation requires exposure of spermatozoa to the microenvironment of the epididymal lumen. Spermatozoa undergo extensive changes in the epididymis, including enzymatic modifications, loss of pre-existing components and addition of new glycoproteins from epididymal secretions. These modifying proteins and enzymes are synthesized by epithelial cells lining the epididymal duct and secreted apically into the lumen, where they come into contact with, and may be absorbed onto, the sperm membranes. The proteins encoded by the genes in this cluster are synthesized and secreted by epididymal epithelial cells. [provided by RefSeq, Jul 2008] Expression Low expression observed in reference dataset See more Orthologs mouse all
EDDM3CP, Official Symbol EDDM3CPprovided by HGNC Official Full Name epididymal protein 3C, pseudogeneprovided by HGNC Primary source HGNC:HGNC:19224 See related AllianceGenome:HGNC:19224 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as FAM12CP; HE3-GAMMA
EDEM1, Official Symbol EDEM1provided by HGNC Official Full Name ER degradation enhancing alpha-mannosidase like protein 1provided by HGNC Primary source HGNC:HGNC:18967 See related Ensembl:ENSG00000134109 MIM:607673; AllianceGenome:HGNC:18967 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as EDEM Summary Enables mannosyl-oligosaccharide 1,2-alpha-mannosidase activity and misfolded protein binding activity. Involved in mannose trimming involved in glycoprotein ERAD pathway; positive regulation of retrograde protein transport, ER to cytosol; and protein targeting to ER. Located in aggresome and endoplasmic reticulum quality control compartment. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in bone marrow (RPKM 22.7), lymph node (RPKM 21.0) and 25 other tissues See more Orthologs mouse all
EDEM2, Official Symbol EDEM2provided by HGNC Official Full Name ER degradation enhancing alpha-mannosidase like protein 2provided by HGNC Primary source HGNC:HGNC:15877 See related Ensembl:ENSG00000088298 MIM:610302; AllianceGenome:HGNC:15877 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as C20orf31; C20orf49; bA4204.1 Summary In the endoplasmic reticulum (ER), misfolded proteins are retrotranslocated to the cytosol and degraded by the proteasome in a process known as ER-associated degradation (ERAD). EDEM2 belongs to a family of proteins involved in ERAD of glycoproteins (Mast et al., 2005 [PubMed 15537790]).[supplied by OMIM, Mar 2008] Expression Ubiquitous expression in placenta (RPKM 13.1), lung (RPKM 12.7) and 25 other tissues See more Orthologs mouse all
EDEM3, Official Symbol EDEM3provided by HGNC Official Full Name ER degradation enhancing alpha-mannosidase like protein 3provided by HGNC Primary source HGNC:HGNC:16787 See related Ensembl:ENSG00000116406 MIM:610214; AllianceGenome:HGNC:16787 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CDG2V; C1orf22 Summary Quality control in the endoplasmic reticulum (ER) ensures that only properly folded proteins are retained in the cell through recognition and degradation of misfolded or unassembled proteins. EDEM3 belongs to a group of proteins that accelerate degradation of misfolded glycoproteins in the ER (Hirao et al., 2006 [PubMed 16431915]).[supplied by OMIM, Mar 2008] Expression Ubiquitous expression in stomach (RPKM 15.9), colon (RPKM 13.5) and 25 other tissues See more Orthologs mouse all
EDF1, Official Symbol EDF1provided by HGNC Official Full Name endothelial differentiation related factor 1provided by HGNC Primary source HGNC:HGNC:3164 See related Ensembl:ENSG00000107223 MIM:605107; AllianceGenome:HGNC:3164 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as MBF1; EDF-1; CFAP280 Summary This gene encodes a protein that may regulate endothelial cell differentiation, lipid metabolism, and hormone-induced cardiomyocyte hypertrophy. The encoded protein has also been found to act as a transcriptional coactivator by interconnecting the general transcription factor TATA element-binding protein (TBP) and gene-specific activators. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] Expression Ubiquitous expression in duodenum (RPKM 113.1), small intestine (RPKM 111.7) and 25 other tissues See more Orthologs mouse all
EDIL3, Official Symbol EDIL3provided by HGNC Official Full Name EGF like repeats and discoidin domains 3provided by HGNC Primary source HGNC:HGNC:3173 See related Ensembl:ENSG00000164176 MIM:606018; AllianceGenome:HGNC:3173 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as DEL1 Summary The protein encoded by this gene is an integrin ligand. It plays an important role in mediating angiogenesis and may be important in vessel wall remodeling and development. It also influences endothelial cell behavior. [provided by RefSeq, Jul 2008] Expression Broad expression in brain (RPKM 53.2), gall bladder (RPKM 22.9) and 17 other tissues See more Orthologs mouse all
EDIL3-DT, Official Symbol EDIL3-DTprovided by HGNC Official Full Name EDIL3 divergent transcriptprovided by HGNC Primary source HGNC:HGNC:40204 See related Ensembl:ENSG00000250320 AllianceGenome:HGNC:40204 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Low expression observed in reference dataset See more
EDN1, Official Symbol EDN1provided by HGNC Official Full Name endothelin 1provided by HGNC Primary source HGNC:HGNC:3176 See related Ensembl:ENSG00000078401 MIM:131240; AllianceGenome:HGNC:3176 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as ET1; QME; PPET1; ARCND3; HDLCQ7 Summary This gene encodes a preproprotein that is proteolytically processed to generate a secreted peptide that belongs to the endothelin/sarafotoxin family. This peptide is a potent vasoconstrictor and its cognate receptors are therapeutic targets in the treatment of pulmonary arterial hypertension. Aberrant expression of this gene may promote tumorigenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015] Expression Broad expression in lung (RPKM 13.6), fat (RPKM 10.9) and 23 other tissues See more Orthologs mouse all
EDN2, Official Symbol EDN2provided by HGNC Official Full Name endothelin 2provided by HGNC Primary source HGNC:HGNC:3177 See related Ensembl:ENSG00000127129 MIM:131241; AllianceGenome:HGNC:3177 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as ET2; ET-2; PPET2 Summary This gene encodes a member of the endothelin protein family of secretory vasoconstrictive peptides. The preproprotein is processed to a short mature form which functions as a ligand for the endothelin receptors that initiate intracellular signaling events. This gene product is involved in a wide range of biological processes, such as hypertension and ovulation. Altered expression of this gene is implicated in tumorigenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014] Expression Biased expression in small intestine (RPKM 7.3), esophagus (RPKM 3.9) and 5 other tissues See more Orthologs mouse all
EDN3, Official Symbol EDN3provided by HGNC Official Full Name endothelin 3provided by HGNC Primary source HGNC:HGNC:3178 See related Ensembl:ENSG00000124205 MIM:131242; AllianceGenome:HGNC:3178 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as ET3; ET-3; WS4B; HSCR4; PPET3 Summary The protein encoded by this gene is a member of the endothelin family. Endothelins are endothelium-derived vasoactive peptides involved in a variety of biological functions. The active form of this protein is a 21 amino acid peptide processed from the precursor protein. The active peptide is a ligand for endothelin receptor type B (EDNRB). The interaction of this endothelin with EDNRB is essential for development of neural crest-derived cell lineages, such as melanocytes and enteric neurons. Mutations in this gene and EDNRB have been associated with Hirschsprung disease (HSCR) and Waardenburg syndrome (WS), which are congenital disorders involving neural crest-derived cells. Altered expression of this gene is implicated in tumorigenesis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2014] Expression Biased expression in small intestine (RPKM 16.6), duodenum (RPKM 16.3) and 11 other tissues See more Orthologs mouse all
EDNRA, Official Symbol EDNRAprovided by HGNC Official Full Name endothelin receptor type Aprovided by HGNC Primary source HGNC:HGNC:3179 See related Ensembl:ENSG00000151617 MIM:131243; AllianceGenome:HGNC:3179 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as ETA; ET-A; ETAR; ETRA; MFDA; ETA-R; hET-AR Summary This gene encodes the receptor for endothelin-1, a peptide that plays a role in potent and long-lasting vasoconstriction. This receptor associates with guanine-nucleotide-binding (G) proteins, and this coupling activates a phosphatidylinositol-calcium second messenger system. Polymorphisms in this gene have been linked to migraine headache resistance. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009] Expression Broad expression in endometrium (RPKM 36.3), ovary (RPKM 19.3) and 18 other tissues See more Orthologs mouse all