psui3905/ncbi_genes_summary huggingface dataset:
EPHB2, Official Symbol EPHB2provided by HGNC Official Full Name EPH receptor B2provided by HGNC Primary source HGNC:HGNC:3393 See related Ensembl:ENSG00000133216 MIM:600997; AllianceGenome:HGNC:3393 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 DRT; EK5; ERK; CAPB; Hek5; PCBC; EPHT3; Tyro5; BDPLT22 Summary This gene encodes a member of the Eph receptor family of receptor tyrosine kinase transmembrane glycoproteins. These receptors are composed of an N-terminal glycosylated ligand-binding domain, a transmembrane region and an intracellular kinase domain. They bind ligands called ephrins and are involved in diverse cellular processes including motility, division, and differentiation. A distinguishing characteristic of Eph-ephrin signaling is that both receptors and ligands are competent to transduce a signaling cascade, resulting in bidirectional signaling. This protein belongs to a subgroup of the Eph receptors called EphB. Proteins of this subgroup are distinguished from other members of the family by sequence homology and preferential binding affinity for membrane-bound ephrin-B ligands. Allelic variants are associated with prostate and brain cancer susceptibility. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2015] Expression Broad expression in colon (RPKM 7.3), small intestine (RPKM 5.2) and 17 other tissues See more Orthologs mouse all
EPHB3, Official Symbol EPHB3provided by HGNC Official Full Name EPH receptor B3provided by HGNC Primary source HGNC:HGNC:3394 See related Ensembl:ENSG00000182580 MIM:601839; AllianceGenome:HGNC:3394 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 EK2; ETK2; HEK2; TYRO6 Summary Ephrin receptors and their ligands, the ephrins, mediate numerous developmental processes, particularly in the nervous system. Based on their structures and sequence relationships, ephrins are divided into the ephrin-A (EFNA) class, which are anchored to the membrane by a glycosylphosphatidylinositol linkage, and the ephrin-B (EFNB) class, which are transmembrane proteins. The Eph family of receptors are divided into two groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. Ephrin receptors make up the largest subgroup of the receptor tyrosine kinase (RTK) family. This gene encodes a receptor for ephrin-B family members. [provided by RefSeq, Mar 2010] Expression Broad expression in skin (RPKM 18.6), stomach (RPKM 10.2) and 15 other tissues See more Orthologs mouse all
EPHB4, Official Symbol EPHB4provided by HGNC Official Full Name EPH receptor B4provided by HGNC Primary source HGNC:HGNC:3395 See related Ensembl:ENSG00000196411 MIM:600011; AllianceGenome:HGNC:3395 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 HTK; MYK1; HFASD; CMAVM2; LMPHM7; TYRO11 Summary Ephrin receptors and their ligands, the ephrins, mediate numerous developmental processes, particularly in the nervous system. Based on their structures and sequence relationships, ephrins are divided into the ephrin-A (EFNA) class, which are anchored to the membrane by a glycosylphosphatidylinositol linkage, and the ephrin-B (EFNB) class, which are transmembrane proteins. The Eph family of receptors are divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. Ephrin receptors make up the largest subgroup of the receptor tyrosine kinase (RTK) family. The protein encoded by this gene binds to ephrin-B2 and plays an essential role in vascular development. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in placenta (RPKM 28.2), endometrium (RPKM 22.9) and 24 other tissues See more Orthologs mouse all
EPHB6, Official Symbol EPHB6provided by HGNC Official Full Name EPH receptor B6provided by HGNC Primary source HGNC:HGNC:3396 See related Ensembl:ENSG00000106123 MIM:602757; AllianceGenome:HGNC:3396 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 HEP Summary This gene encodes a member of a family of transmembrane proteins that function as receptors for ephrin-B family proteins. Unlike other members of this family, the encoded protein does not contain a functional kinase domain. Activity of this protein can influence cell adhesion and migration. Expression of this gene is downregulated during tumor progression, suggesting that the protein may suppress tumor invasion and metastasis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] Expression Biased expression in skin (RPKM 52.0), brain (RPKM 17.5) and 11 other tissues See more Orthologs mouse all
EPHX1, Official Symbol EPHX1provided by HGNC Official Full Name epoxide hydrolase 1provided by HGNC Primary source HGNC:HGNC:3401 See related Ensembl:ENSG00000143819 MIM:132810; AllianceGenome:HGNC:3401 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 MEH; EPHX; EPOX; HYL1 Summary Epoxide hydrolase is a critical biotransformation enzyme that converts epoxides from the degradation of aromatic compounds to trans-dihydrodiols which can be conjugated and excreted from the body. Epoxide hydrolase functions in both the activation and detoxification of epoxides. Mutations in this gene cause preeclampsia, epoxide hydrolase deficiency or increased epoxide hydrolase activity. Alternatively spliced transcript variants encoding the same protein have been found for this gene.[provided by RefSeq, Dec 2008] Expression Broad expression in liver (RPKM 307.4), adrenal (RPKM 287.9) and 19 other tissues See more Orthologs mouse all
EPHX2, Official Symbol EPHX2provided by HGNC Official Full Name epoxide hydrolase 2provided by HGNC Primary source HGNC:HGNC:3402 See related Ensembl:ENSG00000120915 MIM:132811; AllianceGenome:HGNC:3402 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 CEH; SEH; ABHD20 Summary This gene encodes a member of the epoxide hydrolase family. The protein, found in both the cytosol and peroxisomes, binds to specific epoxides and converts them to the corresponding dihydrodiols. Mutations in this gene have been associated with familial hypercholesterolemia. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2012] Expression Broad expression in kidney (RPKM 34.1), small intestine (RPKM 33.0) and 23 other tissues See more Orthologs mouse all
EPHX3, Official Symbol EPHX3provided by HGNC Official Full Name epoxide hydrolase 3provided by HGNC Primary source HGNC:HGNC:23760 See related Ensembl:ENSG00000105131 MIM:617400; AllianceGenome:HGNC:23760 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 EH3; ABHD9 Summary Enables epoxide hydrolase activity. Involved in epoxide metabolic process. Located in intracellular membrane-bounded organelle and membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in skin (RPKM 21.8), esophagus (RPKM 15.1) and 1 other tissue See more Orthologs mouse all
EPHX4, Official Symbol EPHX4provided by HGNC Official Full Name epoxide hydrolase 4provided by HGNC Primary source HGNC:HGNC:23758 See related Ensembl:ENSG00000172031 MIM:617401; AllianceGenome:HGNC:23758 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 EH4; ABHD7; EPHXRP Summary Predicted to enable hydrolase activity. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in brain (RPKM 5.0), thyroid (RPKM 1.1) and 9 other tissues See more Orthologs mouse all
EPM2A, Official Symbol EPM2Aprovided by HGNC Official Full Name EPM2A glucan phosphatase, laforinprovided by HGNC Primary source HGNC:HGNC:3413 See related Ensembl:ENSG00000112425 MIM:607566; AllianceGenome:HGNC:3413 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 EPM2; MELF Summary This gene encodes a dual-specificity phosphatase and may be involved in the regulation of glycogen metabolism. The protein acts on complex carbohydrates to prevent glycogen hyperphosphorylation, thus avoiding the formation of insoluble aggregates. Loss-of-function mutations in this gene have been associated with Lafora disease, a rare, adult-onset recessive neurodegenerative disease, which results in myoclonus epilepsy and usually results in death several years after the onset of symptoms. The disease is characterized by the accumulation of insoluble particles called Lafora bodies, which are derived from glycogen. [provided by RefSeq, Jan 2018] Expression Ubiquitous expression in heart (RPKM 6.9), kidney (RPKM 4.5) and 24 other tissues See more Orthologs mouse all
EPM2AIP1, Official Symbol EPM2AIP1provided by HGNC Official Full Name EPM2A interacting protein 1provided by HGNC Primary source HGNC:HGNC:19735 See related Ensembl:ENSG00000178567 MIM:607911; AllianceGenome:HGNC:19735 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 The EPM2A gene, which encodes laforin, is mutated in an autosomal recessive form of adolescent progressive myoclonus epilepsy. The protein encoded by this gene binds to laforin, but its function is not known. This gene is intronless. [provided by RefSeq, Oct 2008] Orthologs mouse all
EPN1, Official Symbol EPN1provided by HGNC Official Full Name epsin 1provided by HGNC Primary source HGNC:HGNC:21604 See related Ensembl:ENSG00000063245 MIM:607262; AllianceGenome:HGNC:21604 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 This gene encodes a member of the epsin protein family. The encoded protein binds clathrin and is involved in the endocytosis of clathrin-coated vesicles. Loss of function of this gene is associated with reduced tumor growth and progression in certain cancer types. [provided by RefSeq, Mar 2016] Expression Ubiquitous expression in duodenum (RPKM 31.4), stomach (RPKM 31.2) and 25 other tissues See more Orthologs mouse all
EPN2, Official Symbol EPN2provided by HGNC Official Full Name epsin 2provided by HGNC Primary source HGNC:HGNC:18639 See related Ensembl:ENSG00000072134 MIM:607263; AllianceGenome:HGNC:18639 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 EHB21 Summary This gene encodes a protein which interacts with clathrin and adaptor-related protein complex 2, alpha 1 subunit. The protein is found in a brain-derived clathrin-coated vesicle fraction and localizes to the peri-Golgi region and the cell periphery. The protein is thought to be involved in clathrin-mediated endocytosis. Alternate splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in brain (RPKM 30.1), skin (RPKM 20.7) and 25 other tissues See more Orthologs mouse all
EPN2-AS1, Official Symbol EPN2-AS1provided by HGNC Official Full Name EPN2 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:40849 See related Ensembl:ENSG00000235397 AllianceGenome:HGNC:40849 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
EPN3, Official Symbol EPN3provided by HGNC Official Full Name epsin 3provided by HGNC Primary source HGNC:HGNC:18235 See related Ensembl:ENSG00000049283 MIM:607264; AllianceGenome:HGNC:18235 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 clathrin binding activity and phospholipid binding activity. Predicted to be involved in endocytosis. Located in clathrin-coated vesicle; nucleoplasm; and perinuclear region of cytoplasm. Is extrinsic component of plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in stomach (RPKM 11.8), esophagus (RPKM 7.2) and 16 other tissues See more Orthologs mouse all
EPO, Official Symbol EPOprovided by HGNC Official Full Name erythropoietinprovided by HGNC Primary source HGNC:HGNC:3415 See related Ensembl:ENSG00000130427 MIM:133170; AllianceGenome:HGNC:3415 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 EP; DBAL; ECYT5; MVCD2 Summary This gene encodes a secreted, glycosylated cytokine composed of four alpha helical bundles. The encoded protein is mainly synthesized in the kidney, secreted into the blood plasma, and binds to the erythropoietin receptor to promote red blood cell production, or erythropoiesis, in the bone marrow. Expression of this gene is upregulated under hypoxic conditions, in turn leading to increased erythropoiesis and enhanced oxygen-carrying capacity of the blood. Expression of this gene has also been observed in brain and in the eye, and elevated expression levels have been observed in diabetic retinopathy and ocular hypertension. Recombinant forms of the encoded protein exhibit neuroprotective activity against a variety of potential brain injuries, as well as antiapoptotic functions in several tissue types, and have been used in the treatment of anemia and to enhance the efficacy of cancer therapies. [provided by RefSeq, Aug 2017] Expression Biased expression in liver (RPKM 1.5), endometrium (RPKM 0.5) and 6 other tissues See more Orthologs mouse all
EPOP, Official Symbol EPOPprovided by HGNC Official Full Name elongin BC and polycomb repressive complex 2 associated proteinprovided by HGNC Primary source HGNC:HGNC:34493 See related Ensembl:ENSG00000273604 MIM:617795; AllianceGenome:HGNC:34493 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 PRR28; C17orf96 Summary Predicted to enable chromatin binding activity. Predicted to be involved in several processes, including histone H2B conserved C-terminal lysine deubiquitination; neuron fate commitment; and stem cell differentiation. Predicted to be located in chromosome. Predicted to colocalize with ESC/E(Z) complex and elongin complex. [provided by Alliance of Genome Resources, Apr 2022] Orthologs mouse all
EPOR, Official Symbol EPORprovided by HGNC Official Full Name erythropoietin receptorprovided by HGNC Primary source HGNC:HGNC:3416 See related Ensembl:ENSG00000187266 MIM:133171; AllianceGenome:HGNC:3416 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 EPO-R Summary This gene encodes the erythropoietin receptor which is a member of the cytokine receptor family. Upon erythropoietin binding, this receptor activates Jak2 tyrosine kinase which activates different intracellular pathways including: Ras/MAP kinase, phosphatidylinositol 3-kinase and STAT transcription factors. The stimulated erythropoietin receptor appears to have a role in erythroid cell survival. Defects in the erythropoietin receptor may produce erythroleukemia and familial erythrocytosis. Dysregulation of this gene may affect the growth of certain tumors. Alternate splicing results in multiple transcript variants.[provided by RefSeq, May 2010] Expression Broad expression in bone marrow (RPKM 14.6), thyroid (RPKM 11.4) and 22 other tissues See more Orthologs mouse all
EPPIN, Official Symbol EPPINprovided by HGNC Official Full Name epididymal peptidase inhibitorprovided by HGNC Primary source HGNC:HGNC:15932 See related Ensembl:ENSG00000101448 MIM:609031; AllianceGenome:HGNC:15932 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 CT71; CT72; WAP7; WFDC7; SPINLW1; dJ461P17.2 Summary This gene encodes an epididymal protease inhibitor, which contains both kunitz-type and WAP-type four-disulfide core (WFDC) protease inhibitor consensus sequences. Most WFDC genes are localized to chromosome 20q12-q13 in two clusters: centromeric and telomeric. This gene is a member of the WFDC gene family and belongs to the telomeric cluster. The protein can inhibit human sperm motility and exhibits antimicrobial activity against E. coli, and polymorphisms in this gene are associated with male infertility. Read-through transcription also exists between this gene and the downstream WFDC6 (WAP four-disulfide core domain 6) gene. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2014] Expression Restricted expression toward testis (RPKM 44.7) See more Orthologs mouse all
EPPIN-WFDC6, Official Symbol EPPIN-WFDC6provided by HGNC Official Full Name EPPIN-WFDC6 readthroughprovided by HGNC Primary source HGNC:HGNC:38825 See related Ensembl:ENSG00000249139 AllianceGenome:HGNC:38825 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 SPINLW1-WFDC6 Summary This locus represents naturally occurring read-through transcription between the neighboring SPINLW1 (serine peptidase inhibitor-like, with Kunitz and WAP domains 1) and WFDC6 (WAP four-disulfide core domain 6) genes. The read-through transcript encodes a fusion protein that shares sequence identity with the products of each individual gene. [provided by RefSeq, Nov 2010] Expression Restricted expression toward testis (RPKM 35.8) See more Orthologs all
EPPK1, Official Symbol EPPK1provided by HGNC Official Full Name epiplakin 1provided by HGNC Primary source HGNC:HGNC:15577 See related Ensembl:ENSG00000261150 MIM:607553; AllianceGenome:HGNC:15577 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 EPIPL; EPIPL1 Summary The protein encoded by this gene belongs to the plakin family of proteins, which play a role in the organization of cytoskeletal architecture. This family member is composed of several highly homologous plakin repeats. It may function to maintain the integrity of keratin intermediate filament networks in epithelial cells. Studies of the orthologous mouse protein suggest that it accelerates keratinocyte migration during wound healing. [provided by RefSeq, Oct 2013] Expression Biased expression in skin (RPKM 9.0), colon (RPKM 7.5) and 10 other tissues See more Orthologs mouse all
EPRS1, Official Symbol EPRS1provided by HGNC Official Full Name glutamyl-prolyl-tRNA synthetase 1provided by HGNC Primary source HGNC:HGNC:3418 See related Ensembl:ENSG00000136628 MIM:138295; AllianceGenome:HGNC:3418 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 EARS; EPRS; PARS; QARS; QPRS; HLD15; PIG32; GLUPRORS Summary Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. The protein encoded by this gene is a multifunctional aminoacyl-tRNA synthetase that catalyzes the aminoacylation of glutamic acid and proline tRNA species. Alternative splicing has been observed for this gene, but the full-length nature and biological validity of the variant have not been determined. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in thyroid (RPKM 31.6), appendix (RPKM 22.6) and 25 other tissues See more Orthologs mouse all
EPS15, Official Symbol EPS15provided by HGNC Official Full Name epidermal growth factor receptor pathway substrate 15provided by HGNC Primary source HGNC:HGNC:3419 See related Ensembl:ENSG00000085832 MIM:600051; AllianceGenome:HGNC:3419 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 AF1P; AF-1P; MLLT5 Summary This gene encodes a protein that is part of the EGFR pathway. The protein is present at clatherin-coated pits and is involved in receptor-mediated endocytosis of EGF. Notably, this gene is rearranged with the HRX/ALL/MLL gene in acute myelogeneous leukemias. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, May 2009] Expression Ubiquitous expression in brain (RPKM 29.8), testis (RPKM 29.2) and 25 other tissues See more Orthologs mouse all
EPS15-AS1, Official Symbol EPS15-AS1provided by HGNC Official Full Name EPS15 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:40219 See related Ensembl:ENSG00000227070 AllianceGenome:HGNC:40219 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
EPS15L1, Official Symbol EPS15L1provided by HGNC Official Full Name epidermal growth factor receptor pathway substrate 15 like 1provided by HGNC Primary source HGNC:HGNC:24634 See related Ensembl:ENSG00000127527 MIM:616826; AllianceGenome:HGNC:24634 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 EPS15R Summary Enables cadherin binding activity. Predicted to be involved in endocytosis and endosomal transport. Located in membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in brain (RPKM 4.8), heart (RPKM 4.6) and 25 other tissues See more Orthologs mouse all
EPS8, Official Symbol EPS8provided by HGNC Official Full Name epidermal growth factor receptor pathway substrate 8provided by HGNC Primary source HGNC:HGNC:3420 See related Ensembl:ENSG00000151491 MIM:600206; AllianceGenome:HGNC:3420 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 DFNB102 Summary This gene encodes a member of the EPS8 family. This protein contains one PH domain and one SH3 domain. It functions as part of the EGFR pathway, though its exact role has not been determined. Highly similar proteins in other organisms are involved in the transduction of signals from Ras to Rac and growth factor-mediated actin remodeling. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in gall bladder (RPKM 34.8), fat (RPKM 34.0) and 24 other tissues See more Orthologs mouse all
EPS8L1, Official Symbol EPS8L1provided by HGNC Official Full Name EPS8 like 1provided by HGNC Primary source HGNC:HGNC:21295 See related Ensembl:ENSG00000131037 MIM:614987; AllianceGenome:HGNC:21295 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 DRC3; EPS8R1; PP10566 Summary This gene encodes a protein that is related to epidermal growth factor receptor pathway substrate 8 (EPS8), a substrate for the epidermal growth factor receptor. The function of this protein is unknown. At least two alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Expression Biased expression in esophagus (RPKM 25.5), skin (RPKM 19.7) and 12 other tissues See more Orthologs mouse all
EPS8L2, Official Symbol EPS8L2provided by HGNC Official Full Name EPS8 like 2provided by HGNC Primary source HGNC:HGNC:21296 See related Ensembl:ENSG00000177106 MIM:614988; AllianceGenome:HGNC:21296 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 EPS8R2; DFNB106 Summary This gene encodes a member of the EPS8 gene family. The encoded protein, like other members of the family, is thought to link growth factor stimulation to actin organization, generating functional redundancy in the pathways that regulate actin cytoskeletal remodeling. [provided by RefSeq, Dec 2008] Expression Broad expression in kidney (RPKM 41.5), small intestine (RPKM 39.9) and 18 other tissues See more Orthologs mouse all
EPS8L3, Official Symbol EPS8L3provided by HGNC Official Full Name EPS8 like 3provided by HGNC Primary source HGNC:HGNC:21297 See related Ensembl:ENSG00000198758 MIM:614989; AllianceGenome:HGNC:21297 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 HYPT5; EPS8R3 Summary This gene encodes a protein that is related to epidermal growth factor receptor pathway substrate 8 (EPS8), a substrate for the epidermal growth factor receptor. The function of this protein is unknown. Alternatively spliced transcript variants encoding different isoforms exist. [provided by RefSeq, Jul 2008] Expression Biased expression in small intestine (RPKM 73.4), duodenum (RPKM 70.1) and 4 other tissues See more Orthologs mouse all
EPSTI1, Official Symbol EPSTI1provided by HGNC Official Full Name epithelial stromal interaction 1provided by HGNC Primary source HGNC:HGNC:16465 See related Ensembl:ENSG00000133106 MIM:607441; AllianceGenome:HGNC:16465 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 BRESI1 Summary The protein encoded by this gene has been shown to promote tumor invasion and metastasis in some invasive cancer cells when overexpressed. Expression of this gene has been shown to be upregulated by direct binding of the Kruppel like factor 8 protein to promoter sequences. The translated protein interacts with the amino terminal region of the valosin containing protein gene product, resulting in the nuclear translocation of the nuclear factor kappa B subunit 1 gene product, and activation of target genes. Overexpression of this gene has been observed in some breast cancers and in some individuals with systemic lupus erythematosus (SLE). [provided by RefSeq, Sep 2016] Expression Broad expression in lymph node (RPKM 5.8), spleen (RPKM 5.8) and 23 other tissues See more Orthologs mouse all
EPX, Official Symbol EPXprovided by HGNC Official Full Name eosinophil peroxidaseprovided by HGNC Primary source HGNC:HGNC:3423 See related Ensembl:ENSG00000121053 MIM:131399; AllianceGenome:HGNC:3423 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 EPO; EPP; EPXD; EPX-PEN Summary This gene is a member of the peroxidase gene family and is expressed in eosinophils. The encoded preproprotein is proteolytically processed into covalently attached heavy and light chains to form the mature enzyme, which functions as an oxidant. The enzyme is released at sites of parasitic infection or allergen stimulation to mediate lysis of protozoa or parasitic worms. The gene is found in a gene cluster with other peroxidase genes on chromosome 17. Mutations in this gene result in eosinophil peroxidase deficiency. [provided by RefSeq, Feb 2016] Expression Biased expression in bone marrow (RPKM 13.2) and spleen (RPKM 0.3) See more Orthologs mouse all
EPYC, Official Symbol EPYCprovided by HGNC Official Full Name epiphycanprovided by HGNC Primary source HGNC:HGNC:3053 See related Ensembl:ENSG00000083782 MIM:601657; AllianceGenome:HGNC:3053 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 PGLB; DSPG3; Pg-Lb; SLRR3B Summary Dermatan sulfate proteoglycan 3 is a member of the small leucine-rich repeat proteoglycan family. This gene is composed of seven exons. It regulates fibrillogenesis by interacting with collagen fibrils and other extracellular matrix proteins. [provided by RefSeq, Jul 2008] Expression Biased expression in placenta (RPKM 4.1), endometrium (RPKM 0.8) and 1 other tissue See more Orthologs mouse all
EQTN, Official Symbol EQTNprovided by HGNC Official Full Name equatorinprovided by HGNC Primary source HGNC:HGNC:1359 See related Ensembl:ENSG00000120160 MIM:617653; AllianceGenome:HGNC:1359 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 AFAF; SPACA8; C9orf11 Summary Predicted to be involved in acrosomal vesicle exocytosis; endocytosis; and fusion of sperm to egg plasma membrane involved in single fertilization. Predicted to be located in acrosomal membrane; early endosome; and nucleus. Predicted to be active in inner acrosomal membrane; outer acrosomal membrane; and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward testis (RPKM 7.3) See more Orthologs mouse all
ERAL1, Official Symbol ERAL1provided by HGNC Official Full Name Era like 12S mitochondrial rRNA chaperone 1provided by HGNC Primary source HGNC:HGNC:3424 See related Ensembl:ENSG00000132591 MIM:607435; AllianceGenome:HGNC:3424 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 ERA; CEGA; ERA-W; H-ERA; ERAL1A; ERAL1B; HERA-A; HERA-B; PRLTS6 Summary The protein encoded by this gene is a GTPase that localizes to the mitochondrion. The encoded protein binds to the 3' terminal stem loop of 12S mitochondrial rRNA and is required for proper assembly of the 28S small mitochondrial ribosomal subunit. Deletion of this gene has been shown to cause mitochondrial dysfunction, growth retardation, and apoptosis. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015] Expression Ubiquitous expression in brain (RPKM 14.7), placenta (RPKM 13.9) and 25 other tissues See more Orthologs mouse all
ERAP1, Official Symbol ERAP1provided by HGNC Official Full Name endoplasmic reticulum aminopeptidase 1provided by HGNC Primary source HGNC:HGNC:18173 See related Ensembl:ENSG00000164307 MIM:606832; AllianceGenome:HGNC:18173 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 ALAP; A-LAP; ARTS1; ERAAP; APPILS; ARTS-1; ERAAP1; PILSAP; PILS-AP Summary The protein encoded by this gene is an aminopeptidase involved in trimming HLA class I-binding precursors so that they can be presented on MHC class I molecules. The encoded protein acts as a monomer or as a heterodimer with ERAP2. This protein may also be involved in blood pressure regulation by inactivation of angiotensin II. Three transcript variants encoding two different isoforms have been found for this gene.[provided by RefSeq, Oct 2010] Expression Ubiquitous expression in fat (RPKM 18.4), duodenum (RPKM 14.7) and 25 other tissues See more Orthologs mouse all
ERAP2, Official Symbol ERAP2provided by HGNC Official Full Name endoplasmic reticulum aminopeptidase 2provided by HGNC Primary source HGNC:HGNC:29499 See related Ensembl:ENSG00000164308 MIM:609497; AllianceGenome:HGNC:29499 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 LRAP; L-RAP Summary This gene encodes a zinc metalloaminopeptidase of the M1 protease family that resides in the endoplasmic reticulum and functions in N-terminal trimming antigenic epitopes for presentation by major histocompatibility complex (MHC) class I molecules. Certain mutations in this gene are associated with the inflammatory arthritis syndrome ankylosing spondylitis and pre-eclampsia. This gene is located adjacent to a closely related aminopeptidase gene on chromosome 5. [provided by RefSeq, Jul 2016] Expression Broad expression in lymph node (RPKM 22.9), spleen (RPKM 19.0) and 23 other tissues See more Orthologs all
ERAS, Official Symbol ERASprovided by HGNC Official Full Name ES cell expressed Rasprovided by HGNC Primary source HGNC:HGNC:5174 See related Ensembl:ENSG00000187682 MIM:300437; AllianceGenome:HGNC:5174 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 HRAS2; HRASP Summary This gene encodes a constitutively active member of the small GTPase Ras protein family. The encoded protein activates the phosphatidylinositol 3-kinase signal transduction pathway in undifferentiated stem cells, but is not expressed in differentiated cells. This gene may be involved in cancer and chemotherapy resistance. [provided by RefSeq, Dec 2012] Expression Low expression observed in reference dataset See more Orthologs mouse all
ERBB2, Official Symbol ERBB2provided by HGNC Official Full Name erb-b2 receptor tyrosine kinase 2provided by HGNC Primary source HGNC:HGNC:3430 See related Ensembl:ENSG00000141736 MIM:164870; AllianceGenome:HGNC:3430 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 NEU; NGL; HER2; TKR1; CD340; HER-2; VSCN2; MLN 19; MLN-19; c-ERB2; c-ERB-2; HER-2/neu; p185(erbB2) Summary This gene encodes a member of the epidermal growth factor (EGF) receptor family of receptor tyrosine kinases. This protein has no ligand binding domain of its own and therefore cannot bind growth factors. However, it does bind tightly to other ligand-bound EGF receptor family members to form a heterodimer, stabilizing ligand binding and enhancing kinase-mediated activation of downstream signalling pathways, such as those involving mitogen-activated protein kinase and phosphatidylinositol-3 kinase. Allelic variations at amino acid positions 654 and 655 of isoform a (positions 624 and 625 of isoform b) have been reported, with the most common allele, Ile654/Ile655, shown here. Amplification and/or overexpression of this gene has been reported in numerous cancers, including breast and ovarian tumors. Alternative splicing results in several additional transcript variants, some encoding different isoforms and others that have not been fully characterized. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in kidney (RPKM 34.7), skin (RPKM 30.2) and 24 other tissues See more Orthologs mouse all
ERBB3, Official Symbol ERBB3provided by HGNC Official Full Name erb-b2 receptor tyrosine kinase 3provided by HGNC Primary source HGNC:HGNC:3431 See related Ensembl:ENSG00000065361 MIM:190151; AllianceGenome:HGNC:3431 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 HER3; FERLK; LCCS2; VSCN1; ErbB-3; c-erbB3; erbB3-S; MDA-BF-1; c-erbB-3; p180-ErbB3; p45-sErbB3; p85-sErbB3 Summary This gene encodes a member of the epidermal growth factor receptor (EGFR) family of receptor tyrosine kinases. This membrane-bound protein has a neuregulin binding domain but not an active kinase domain. It therefore can bind this ligand but not convey the signal into the cell through protein phosphorylation. However, it does form heterodimers with other EGF receptor family members which do have kinase activity. Heterodimerization leads to the activation of pathways which lead to cell proliferation or differentiation. Amplification of this gene and/or overexpression of its protein have been reported in numerous cancers, including prostate, bladder, and breast tumors. Alternate transcriptional splice variants encoding different isoforms have been characterized. One isoform lacks the intermembrane region and is secreted outside the cell. This form acts to modulate the activity of the membrane-bound form. Additional splice variants have also been reported, but they have not been thoroughly characterized. [provided by RefSeq, Jul 2008] Expression Broad expression in small intestine (RPKM 41.0), duodenum (RPKM 39.7) and 17 other tissues See more Orthologs mouse all
ERBB4, Official Symbol ERBB4provided by HGNC Official Full Name erb-b2 receptor tyrosine kinase 4provided by HGNC Primary source HGNC:HGNC:3432 See related Ensembl:ENSG00000178568 MIM:600543; AllianceGenome:HGNC:3432 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 HER4; ALS19; p180erbB4 Summary This gene is a member of the Tyr protein kinase family and the epidermal growth factor receptor subfamily. It encodes a single-pass type I membrane protein with multiple cysteine rich domains, a transmembrane domain, a tyrosine kinase domain, a phosphotidylinositol-3 kinase binding site and a PDZ domain binding motif. The protein binds to and is activated by neuregulins and other factors and induces a variety of cellular responses including mitogenesis and differentiation. Multiple proteolytic events allow for the release of a cytoplasmic fragment and an extracellular fragment. Mutations in this gene have been associated with cancer. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008] Expression Biased expression in kidney (RPKM 3.0), brain (RPKM 2.7) and 8 other tissues See more Orthologs mouse all
ERBIN, Official Symbol ERBINprovided by HGNC Official Full Name erbb2 interacting proteinprovided by HGNC Primary source HGNC:HGNC:15842 See related Ensembl:ENSG00000112851 MIM:606944; AllianceGenome:HGNC:15842 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 LAP2; ERBB2IP; HEL-S-78 Summary This gene is a member of the leucine-rich repeat and PDZ domain (LAP) family. The encoded protein contains 17 leucine-rich repeats and one PDZ domain. It binds to the unphosphorylated form of the ERBB2 protein and regulates ERBB2 function and localization. It has also been shown to affect the Ras signaling pathway by disrupting Ras-Raf interaction. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011] Expression Ubiquitous expression in small intestine (RPKM 17.6), lymph node (RPKM 17.5) and 25 other tissues See more Orthologs mouse all
ERC1, Official Symbol ERC1provided by HGNC Official Full Name ELKS/RAB6-interacting/CAST family member 1provided by HGNC Primary source HGNC:HGNC:17072 See related Ensembl:ENSG00000082805 MIM:607127; AllianceGenome:HGNC:17072 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 ELKS; Cast2; ERC-1; RAB6IP2 Summary The protein encoded by this gene is a member of a family of RIM-binding proteins. RIMs are active zone proteins that regulate neurotransmitter release. This gene has been found fused to the receptor-type tyrosine kinase gene RET by gene rearrangement due to the translocation t(10;12)(q11;p13) in thyroid papillary carcinoma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014] Expression Ubiquitous expression in thyroid (RPKM 7.0), esophagus (RPKM 6.1) and 25 other tissues See more Orthologs mouse all
ERC2, Official Symbol ERC2provided by HGNC Official Full Name ELKS/RAB6-interacting/CAST family member 2provided by HGNC Primary source HGNC:HGNC:31922 See related Ensembl:ENSG00000187672 MIM:617250; AllianceGenome:HGNC:31922 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 CAST; CAST1; ELKSL; Spc110; SPBC110 Summary This gene encodes a protein that belongs to the Rab3-interacting molecule (RIM)-binding protein family. Members of this protein family form part of the cytomatrix at the active zone (CAZ) complex and function as regulators of neurotransmitter release. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2015] Expression Biased expression in brain (RPKM 9.8) and ovary (RPKM 0.5) See more Orthologs mouse all
ERC2-IT1, Official Symbol ERC2-IT1provided by HGNC Official Full Name ERC2 intronic transcript 1provided by HGNC Primary source HGNC:HGNC:1229 See related Ensembl:ENSG00000281708 AllianceGenome:HGNC:1229 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as Po42; C1orf1; C3orf51 Summary This gene is a putative tumor suppressor gene. [provided by RefSeq, Jul 2008]
ERCC1, Official Symbol ERCC1provided by HGNC Official Full Name ERCC excision repair 1, endonuclease non-catalytic subunitprovided by HGNC Primary source HGNC:HGNC:3433 See related Ensembl:ENSG00000012061 MIM:126380; AllianceGenome:HGNC:3433 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 UV20; COFS4; RAD10 Summary The product of this gene functions in the nucleotide excision repair pathway, and is required for the repair of DNA lesions such as those induced by UV light or formed by electrophilic compounds including cisplatin. The encoded protein forms a heterodimer with the XPF endonuclease (also known as ERCC4), and the heterodimeric endonuclease catalyzes the 5' incision in the process of excising the DNA lesion. The heterodimeric endonuclease is also involved in recombinational DNA repair and in the repair of inter-strand crosslinks. Mutations in this gene result in cerebrooculofacioskeletal syndrome, and polymorphisms that alter expression of this gene may play a role in carcinogenesis. Multiple transcript variants encoding different isoforms have been found for this gene. The last exon of this gene overlaps with the CD3e molecule, epsilon associated protein gene on the opposite strand. [provided by RefSeq, Oct 2009] Expression Ubiquitous expression in skin (RPKM 11.1), ovary (RPKM 9.5) and 25 other tissues See more Orthologs mouse all
ERCC2, Official Symbol ERCC2provided by HGNC Official Full Name ERCC excision repair 2, TFIIH core complex helicase subunitprovided by HGNC Primary source HGNC:HGNC:3434 See related Ensembl:ENSG00000104884 MIM:126340; AllianceGenome:HGNC:3434 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 EM9; TTD; XPD; TTD1; COFS2; TFIIH Summary The nucleotide excision repair pathway is a mechanism to repair damage to DNA. The protein encoded by this gene is involved in transcription-coupled nucleotide excision repair and is an integral member of the basal transcription factor BTF2/TFIIH complex. The gene product has ATP-dependent DNA helicase activity and belongs to the RAD3/XPD subfamily of helicases. Defects in this gene can result in three different disorders, the cancer-prone syndrome xeroderma pigmentosum complementation group D, trichothiodystrophy, and Cockayne syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008] Expression Ubiquitous expression in testis (RPKM 6.4), skin (RPKM 6.1) and 25 other tissues See more Orthologs mouse all