psui3905/ncbi_genes_summary huggingface dataset:
ERVH48-1, Official Symbol ERVH48-1provided by HGNC Official Full Name endogenous retrovirus group 48 member 1, envelopeprovided by HGNC Primary source HGNC:HGNC:17216 See related Ensembl:ENSG00000233056 AllianceGenome:HGNC:17216 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 SUPYN; C21orf105; NDUFV3-AS1 Summary Many different endogenous retrovirus families are expressed in normal placental tissue at high levels, suggesting that endogenous retroviruses are functionally important in reproduction. This gene is part of an endogenous retrovirus provirus that has placenta specific expression. The protein encoded has the characteristics of a retroviral envelope protein but is truncated and lacks the transmembrane domain. The protein inhibits cell fusion by competing with syncytin-1 for binding to a cell receptor. [provided by RefSeq, May 2015] Expression Restricted expression toward placenta (RPKM 102.6) See more Orthologs all
ERVK3-1, Official Symbol ERVK3-1provided by HGNC Official Full Name endogenous retrovirus group K3 member 1provided by HGNC Primary source HGNC:HGNC:30466 See related Ensembl:ENSG00000142396 AllianceGenome:HGNC:30466 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 Expression Ubiquitous expression in bone marrow (RPKM 14.4), lymph node (RPKM 13.5) and 25 other tissues See more Orthologs all
ERVMER34-1, Official Symbol ERVMER34-1provided by HGNC Official Full Name endogenous retrovirus group MER34 member 1, envelopeprovided by HGNC Primary source HGNC:HGNC:42970 See related Ensembl:ENSG00000226887 AllianceGenome:HGNC:42970 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 HEMO; envMER34 Summary Predicted to be located in extracellular region and plasma membrane. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in placenta (RPKM 6.1), kidney (RPKM 1.4) and 8 other tissues See more Orthologs all
ERVMER61-1, Official Symbol ERVMER61-1provided by HGNC Official Full Name endogenous retrovirus group MER61 member 1provided by HGNC Primary source HGNC:HGNC:27919 Gene type other Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as C1orf99; TP53LC07
ERVV-1, Official Symbol ERVV-1provided by HGNC Official Full Name endogenous retrovirus group V member 1, envelopeprovided by HGNC Primary source HGNC:HGNC:26501 See related Ensembl:ENSG00000269526 AllianceGenome:HGNC:26501 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 ENVV1; HERV-V1 Summary Many different human endogenous retrovirus (HERV) families are expressed in normal placental tissue at high levels, suggesting that HERVs are functionally important in reproduction. This gene is part of an HERV provirus on human chromosome 19 that has inactivating mutations in the gag and pol genes. The gene's envelope protein is expressed in the human placenta but is truncated at its C-terminus. [provided by RefSeq, Oct 2015] Orthologs all
ERVV-2, Official Symbol ERVV-2provided by HGNC Official Full Name endogenous retrovirus group V member 2, envelopeprovided by HGNC Primary source HGNC:HGNC:39051 See related Ensembl:ENSG00000268964 AllianceGenome:HGNC:39051 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 ENVV2; HERV-V2 Summary Many different human endogenous retrovirus (HERV) families are expressed in normal placental tissue at high levels, suggesting that HERVs are functionally important in reproduction. This gene is part of an HERV provirus on human chromosome 19 that has inactivating mutations in the gag and pol genes. This envelope glycoprotein gene appears to have been selectively preserved. The gene's protein product is expressed in the placenta and acts as a syncytin in Old World monkeys, but has lost the fusogenic activity in humans and other primate lineages. [provided by RefSeq, Jun 2015] Expression Restricted expression toward placenta (RPKM 9.6) See more Orthologs all
ERVW-1, Official Symbol ERVW-1provided by HGNC Official Full Name endogenous retrovirus group W member 1, envelopeprovided by HGNC Primary source HGNC:HGNC:13525 See related Ensembl:ENSG00000242950 MIM:604659; AllianceGenome:HGNC:13525 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 ENV; ENVW; HERVW; ERVWE1; HERV7Q; HERV-7q; HERVWENV; HERV-W-ENV Summary Many different human endogenous retrovirus (HERV) families are expressed in normal placental tissue at high levels, suggesting that HERVs are functionally important in reproduction. This gene is part of an HERV provirus on chromosome 7 that has inactivating mutations in the gag and pol genes. This gene is the envelope glycoprotein gene which appears to have been selectively preserved. The gene's protein product is expressed in the placental syncytiotrophoblast and is involved in fusion of the cytotrophoblast cells to form the syncytial layer of the placenta. The protein has the characteristics of a typical retroviral envelope protein, including a furin cleavage site that separates the surface (SU) and transmembrane (TM) proteins which form a heterodimer. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Mar 2010] Expression Restricted expression toward placenta (RPKM 37.5) See more Orthologs all
ESAM, Official Symbol ESAMprovided by HGNC Official Full Name endothelial cell adhesion moleculeprovided by HGNC Primary source HGNC:HGNC:17474 See related Ensembl:ENSG00000149564 MIM:614281; AllianceGenome:HGNC:17474 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 W117m; NEDIHSS Summary Enables cell-cell adhesion mediator activity. Involved in several processes, including bicellular tight junction assembly; cell-cell adhesion; and regulation of actin cytoskeleton organization. Located in cell-cell junction and plasma membrane. Part of protein-containing complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in placenta (RPKM 71.1), thyroid (RPKM 67.5) and 21 other tissues See more Orthologs mouse all
ESCO1, Official Symbol ESCO1provided by HGNC Official Full Name establishment of sister chromatid cohesion N-acetyltransferase 1provided by HGNC Primary source HGNC:HGNC:24645 See related Ensembl:ENSG00000141446 MIM:609674; AllianceGenome:HGNC:24645 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 CTF; ECO1; EFO1; ESO1; A930014I12Rik Summary Enables identical protein binding activity; peptide-lysine-N-acetyltransferase activity; and zinc ion binding activity. Involved in peptidyl-lysine acetylation; post-translational protein acetylation; and regulation of DNA replication. Located in chromatin. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 14.5), bone marrow (RPKM 6.3) and 25 other tissues See more Orthologs mouse all
ESCO2, Official Symbol ESCO2provided by HGNC Official Full Name establishment of sister chromatid cohesion N-acetyltransferase 2provided by HGNC Primary source HGNC:HGNC:27230 See related Ensembl:ENSG00000171320 MIM:609353; AllianceGenome:HGNC:27230 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 JHS; RBS; EFO2; EFO2p; hEFO2; 2410004I17Rik Summary This gene encodes a protein that may have acetyltransferase activity and may be required for the establishment of sister chromatid cohesion during the S phase of mitosis. Mutations in this gene have been associated with Roberts syndrome. [provided by RefSeq, Jul 2008] Expression Biased expression in testis (RPKM 3.1), duodenum (RPKM 2.9) and 13 other tissues See more Orthologs mouse all
ESD, Official Symbol ESDprovided by HGNC Official Full Name esterase Dprovided by HGNC Primary source HGNC:HGNC:3465 See related Ensembl:ENSG00000139684 MIM:133280; AllianceGenome:HGNC:3465 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 FGH Summary This gene encodes a serine hydrolase that belongs to the esterase D family. The encoded enzyme is active toward numerous substrates including O-acetylated sialic acids, and it may be involved in the recycling of sialic acids. This gene is used as a genetic marker for retinoblastoma and Wilson's disease. [provided by RefSeq, Feb 2009] Expression Ubiquitous expression in thyroid (RPKM 31.6), ovary (RPKM 31.3) and 25 other tissues See more Orthologs mouse all
ESF1, Official Symbol ESF1provided by HGNC Official Full Name ESF1 nucleolar pre-rRNA processing protein homologprovided by HGNC Primary source HGNC:HGNC:15898 See related Ensembl:ENSG00000089048 MIM:618765; AllianceGenome:HGNC:15898 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 ABTAP; C20orf6; HDCMC28P; bA526K24.1 Summary Enables RNA binding activity. Predicted to be involved in rRNA processing. Located in extracellular space. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 6.7), brain (RPKM 5.3) and 25 other tissues See more Orthologs mouse all
ESM1, Official Symbol ESM1provided by HGNC Official Full Name endothelial cell specific molecule 1provided by HGNC Primary source HGNC:HGNC:3466 See related Ensembl:ENSG00000164283 MIM:601521; AllianceGenome:HGNC:3466 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 endocan Summary This gene encodes a secreted protein which is mainly expressed in the endothelial cells in human lung and kidney tissues. The expression of this gene is regulated by cytokines, suggesting that it may play a role in endothelium-dependent pathological disorders. The transcript contains multiple polyadenylation and mRNA instability signals. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008] Expression Biased expression in thyroid (RPKM 12.6), kidney (RPKM 8.9) and 9 other tissues See more Orthologs mouse all
ESPL1, Official Symbol ESPL1provided by HGNC Official Full Name extra spindle pole bodies like 1, separaseprovided by HGNC Primary source HGNC:HGNC:16856 See related Ensembl:ENSG00000135476 MIM:604143; AllianceGenome:HGNC:16856 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 ESP1; SEPA Summary Stable cohesion between sister chromatids before anaphase and their timely separation during anaphase are critical for chromosome inheritance. In vertebrates, sister chromatid cohesion is released in 2 steps via distinct mechanisms. The first step involves phosphorylation of STAG1 (MIM 604358) or STAG2 (MIM 300826) in the cohesin complex. The second step involves cleavage of the cohesin subunit SCC1 (RAD21; MIM 606462) by ESPL1, or separase, which initiates the final separation of sister chromatids (Sun et al., 2009 [PubMed 19345191]).[supplied by OMIM, Nov 2010] Expression Biased expression in esophagus (RPKM 7.6), testis (RPKM 5.7) and 12 other tissues See more Orthologs mouse all
ESPN, Official Symbol ESPNprovided by HGNC Official Full Name espinprovided by HGNC Primary source HGNC:HGNC:13281 See related Ensembl:ENSG00000187017 MIM:606351; AllianceGenome:HGNC:13281 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 USH1M; DFNB36; LP2654 Summary This gene encodes a multifunctional actin-bundling protein. It plays a major role in regulating the organization, dimensions, dynamics, and signaling capacities of the actin filament-rich, microvillus-type specializations that mediate sensory transduction in various mechanosensory and chemosensory cells. Mutations in this gene are associated with autosomal recessive neurosensory deafness, and autosomal dominant sensorineural deafness without vestibular involvement. [provided by RefSeq, Nov 2009] Expression Biased expression in testis (RPKM 9.0), skin (RPKM 5.5) and 8 other tissues See more Orthologs mouse all
ESPNL, Official Symbol ESPNLprovided by HGNC Official Full Name espin likeprovided by HGNC Primary source HGNC:HGNC:27937 See related Ensembl:ENSG00000144488 MIM:619974; AllianceGenome:HGNC:27937 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 actin filament binding activity. Predicted to be involved in actin filament bundle assembly and sensory perception of sound. Predicted to be located in stereocilium tip. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Low expression observed in reference dataset See more Orthologs mouse all
ESR1, Official Symbol ESR1provided by HGNC Official Full Name estrogen receptor 1provided by HGNC Primary source HGNC:HGNC:3467 See related Ensembl:ENSG00000091831 MIM:133430; AllianceGenome:HGNC:3467 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 ER; ESR; Era; ESRA; ESTRR; NR3A1 Summary This gene encodes an estrogen receptor and ligand-activated transcription factor. The canonical protein contains an N-terminal ligand-independent transactivation domain, a central DNA binding domain, a hinge domain, and a C-terminal ligand-dependent transactivation domain. The protein localizes to the nucleus where it may form either a homodimer or a heterodimer with estrogen receptor 2. The protein encoded by this gene regulates the transcription of many estrogen-inducible genes that play a role in growth, metabolism, sexual development, gestation, and other reproductive functions and is expressed in many non-reproductive tissues. The receptor encoded by this gene plays a key role in breast cancer, endometrial cancer, and osteoporosis. This gene is reported to have dozens of transcript variants due to the use of alternate promoters and alternative splicing, however, the full-length nature of many of these variants remain uncertain. [provided by RefSeq, Jul 2020] Expression Biased expression in endometrium (RPKM 20.7), prostate (RPKM 2.1) and 3 other tissues See more Orthologs mouse all
ESR2, Official Symbol ESR2provided by HGNC Official Full Name estrogen receptor 2provided by HGNC Primary source HGNC:HGNC:3468 See related Ensembl:ENSG00000140009 MIM:601663; AllianceGenome:HGNC:3468 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 Erb; ESRB; ODG8; ESTRB; NR3A2; ER-BETA; ESR-BETA Summary This gene encodes a member of the family of estrogen receptors and superfamily of nuclear receptor transcription factors. The gene product contains an N-terminal DNA binding domain and C-terminal ligand binding domain and is localized to the nucleus, cytoplasm, and mitochondria. Upon binding to 17beta-estradiol or related ligands, the encoded protein forms homo- or hetero-dimers that interact with specific DNA sequences to activate transcription. Some isoforms dominantly inhibit the activity of other estrogen receptor family members. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been fully characterized. [provided by RefSeq, Jul 2008] Expression Broad expression in testis (RPKM 1.8), adrenal (RPKM 1.1) and 16 other tissues See more Orthologs mouse all
ESRG, Official Symbol ESRGprovided by HGNC Official Full Name embryonic stem cell relatedprovided by HGNC Primary source HGNC:HGNC:39079 See related Ensembl:ENSG00000265992 MIM:611473; AllianceGenome:HGNC:39079 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 HESRG Summary Part of nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Low expression observed in reference dataset See more
ESRP1, Official Symbol ESRP1provided by HGNC Official Full Name epithelial splicing regulatory protein 1provided by HGNC Primary source HGNC:HGNC:25966 See related Ensembl:ENSG00000104413 MIM:612959; AllianceGenome:HGNC:25966 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 RBM35A; RMB35A; DFNB109 Summary ESPR1 is an epithelial cell-type-specific splicing regulator (Warzecha et al., 2009 [PubMed 19285943]).[supplied by OMIM, Aug 2009] Expression Broad expression in esophagus (RPKM 33.0), skin (RPKM 32.6) and 15 other tissues See more Orthologs mouse all
ESRP2, Official Symbol ESRP2provided by HGNC Official Full Name epithelial splicing regulatory protein 2provided by HGNC Primary source HGNC:HGNC:26152 See related Ensembl:ENSG00000103067 MIM:612960; AllianceGenome:HGNC:26152 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 RBM35B Summary ESPR2 is an epithelial cell-type-specific splicing regulator (Warzecha et al., 2009 [PubMed 19285943]).[supplied by OMIM, Aug 2009] Expression Ubiquitous expression in skin (RPKM 25.7), esophagus (RPKM 22.3) and 25 other tissues See more Orthologs mouse all
ESRRA, Official Symbol ESRRAprovided by HGNC Official Full Name estrogen related receptor alphaprovided by HGNC Primary source HGNC:HGNC:3471 See related Ensembl:ENSG00000173153 MIM:601998; AllianceGenome:HGNC:3471 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 ERR1; ERRa; ESRL1; NR3B1; ERRalpha Summary The protein encoded by this gene is a nuclear receptor that is most closely related to the estrogen receptor. This protein acts as a site-specific transcription factor and interacts with members of the PGC-1 family of transcription cofactors to regulate the expression of most genes involved in cellular energy production as well as in the process of mitochondrial biogenesis. A processed pseudogene of ESRRA is located on chromosome 13q12.1. [provided by RefSeq, Jun 2019] Expression Ubiquitous expression in duodenum (RPKM 26.2), kidney (RPKM 21.8) and 24 other tissues See more Orthologs mouse all
ESRRAP1, Official Symbol ESRRAP1provided by HGNC Official Full Name estrogen-related receptor alpha pseudogene 1provided by HGNC Primary source HGNC:HGNC:3472 See related AllianceGenome:HGNC:3472 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 ESRRAP; bA76K19.2
ESRRAP2, Official Symbol ESRRAP2provided by HGNC Official Full Name estrogen-related receptor alpha pseudogene 2provided by HGNC Primary source HGNC:HGNC:24647 See related AllianceGenome:HGNC:24647 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 ESTRRA
ESRRB, Official Symbol ESRRBprovided by HGNC Official Full Name estrogen related receptor betaprovided by HGNC Primary source HGNC:HGNC:3473 See related Ensembl:ENSG00000119715 MIM:602167; AllianceGenome:HGNC:3473 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 ERR2; ERRb; ESRL2; NR3B2; DFNB35; ERRbeta2; ERR beta-2 Summary This gene encodes a protein with similarity to the estrogen receptor. Its function is unknown; however, a similar protein in mouse plays an essential role in placental development. [provided by RefSeq, Jul 2008] Expression Biased expression in kidney (RPKM 4.2), heart (RPKM 1.8) and 2 other tissues See more Orthologs mouse all
ESRRG, Official Symbol ESRRGprovided by HGNC Official Full Name estrogen related receptor gammaprovided by HGNC Primary source HGNC:HGNC:3474 See related Ensembl:ENSG00000196482 MIM:602969; AllianceGenome:HGNC:3474 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 ERR3; ERRg; NR3B3; ERRgamma; ERR-gamma Summary This gene encodes a member of the estrogen receptor-related receptor (ESRR) family, which belongs to the nuclear hormone receptor superfamily. All members of the ESRR family share an almost identical DNA binding domain, which is composed of two C4-type zinc finger motifs. The ESRR members are orphan nuclear receptors; they bind to the estrogen response element and steroidogenic factor 1 response element, and activate genes controlled by both response elements in the absence of any ligands. The ESRR family is closely related to the estrogen receptor (ER) family. They share target genes, co-regulators and promoters, and by targeting the same set of genes, the ESRRs seem to interfere with the ER-mediated estrogen response in various ways. It has been reported that the family member encoded by this gene functions as a transcriptional activator of DNA cytosine-5-methyltransferases 1 (Dnmt1) expression by direct binding to its response elements in the DNMT1 promoters, modulates cell proliferation and estrogen signaling in breast cancer, and negatively regulates bone morphogenetic protein 2-induced osteoblast differentiation and bone formation. Multiple alternatively spliced transcript variants have been identified, which mainly differ at the 5' end and some of which encode protein isoforms differing in the N-terminal region. [provided by RefSeq, Aug 2011] Expression Biased expression in kidney (RPKM 4.4), stomach (RPKM 3.1) and 12 other tissues See more Orthologs mouse all
ESS2, Official Symbol ESS2provided by HGNC Official Full Name ess-2 splicing factor homologprovided by HGNC Primary source HGNC:HGNC:16817 See related Ensembl:ENSG00000100056 MIM:601755; AllianceGenome:HGNC:16817 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 ES2; DGSH; DGSI; bis1; DGS-H; DGS-I; ESS-2; Es2el; DGCR13; DGCR14 Summary This gene is located within the minimal DGS critical region (MDGCR) thought to contain the gene(s) responsible for a group of developmental disorders. These disorders include DiGeorge syndrome, velocardiofacial syndrome, conotruncal anomaly face syndrome, and some familial or sporadic conotruncal cardiac defects which have been associated with microdeletion of 22q11.2. The encoded protein may be a component of C complex spliceosomes, and the orthologous protein in the mouse localizes to the nucleus. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2015] Expression Broad expression in testis (RPKM 19.7), bone marrow (RPKM 2.7) and 21 other tissues See more Orthologs mouse all
ESX1, Official Symbol ESX1provided by HGNC Official Full Name ESX homeobox 1provided by HGNC Primary source HGNC:HGNC:14865 See related Ensembl:ENSG00000123576 MIM:300154; AllianceGenome:HGNC:14865 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 ESX1L; ESXR1 Summary This gene encodes a dual-function 65 kDa protein that undergoes proteolytic cleavage to produce a 45 kDa N-terminal fragment with a paired-like homeodomain and a 20 kDa C-terminal fragment with a proline-rich domain. The C-terminal fragment localizes to the cytoplasm while the N-terminal fragment localizes exclusively to the nucleus. In contrast to human, the mouse homolog has a novel PN/PF motif in the C-terminus and is paternally imprinted in placental tissue. This gene likely plays a role in placental development and spermatogenesis. [provided by RefSeq, Jan 2010] Expression Restricted expression toward testis (RPKM 5.2) See more Orthologs mouse all
ESYT1, Official Symbol ESYT1provided by HGNC Official Full Name extended synaptotagmin 1provided by HGNC Primary source HGNC:HGNC:29534 See related Ensembl:ENSG00000139641 MIM:616670; AllianceGenome:HGNC:29534 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 MBC2; FAM62A Summary Enables identical protein binding activity. Predicted to be involved in endoplasmic reticulum-plasma membrane tethering and lipid transport. Located in endoplasmic reticulum. Is integral component of endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in fat (RPKM 71.4), lung (RPKM 26.2) and 25 other tissues See more Orthologs mouse all
ESYT2, Official Symbol ESYT2provided by HGNC Official Full Name extended synaptotagmin 2provided by HGNC Primary source HGNC:HGNC:22211 See related Ensembl:ENSG00000117868 MIM:616691; AllianceGenome:HGNC:22211 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 E-Syt2; FAM62B; CHR2SYT Summary Enables calcium ion binding activity; identical protein binding activity; and phospholipid binding activity. Predicted to be involved in endocytosis; endoplasmic reticulum-plasma membrane tethering; and lipid transport. Located in endoplasmic reticulum-plasma membrane contact site. Is extrinsic component of cytoplasmic side of plasma membrane; integral component of plasma membrane; and intrinsic component of endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in fat (RPKM 29.7), thyroid (RPKM 27.6) and 25 other tissues See more Orthologs mouse all
ESYT3, Official Symbol ESYT3provided by HGNC Official Full Name extended synaptotagmin 3provided by HGNC Primary source HGNC:HGNC:24295 See related Ensembl:ENSG00000158220 MIM:616692; AllianceGenome:HGNC:24295 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 E-Syt3; FAM62C; CHR3SYT Summary Predicted to enable calcium ion binding activity and phospholipid binding activity. Predicted to be involved in endoplasmic reticulum-plasma membrane tethering and lipid transport. Located in endoplasmic reticulum-plasma membrane contact site. Is extrinsic component of cytoplasmic side of plasma membrane; integral component of plasma membrane; and intrinsic component of endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in lung (RPKM 3.7), thyroid (RPKM 3.1) and 8 other tissues See more Orthologs mouse all
ETAA1, Official Symbol ETAA1provided by HGNC Official Full Name ETAA1 activator of ATR kinaseprovided by HGNC Primary source HGNC:HGNC:24648 See related Ensembl:ENSG00000143971 MIM:613196; AllianceGenome:HGNC:24648 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 ETAA16 Summary Enables protein serine/threonine kinase activator activity. Involved in several processes, including positive regulation of protein serine/threonine kinase activity; regulation of DNA damage checkpoint; and replication fork processing. Located in cytosol; nuclear replication fork; and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in thyroid (RPKM 6.6), endometrium (RPKM 6.0) and 25 other tissues See more Orthologs mouse all
ETDA, Official Symbol ETDAprovided by HGNC Official Full Name embryonic testis differentiation homolog Aprovided by HGNC Primary source HGNC:HGNC:53449 See related Ensembl:ENSG00000238210 AllianceGenome:HGNC:53449 Gene type protein coding RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Restricted expression toward testis (RPKM 1.2) See more Orthologs all
ETDB, Official Symbol ETDBprovided by HGNC Official Full Name embryonic testis differentiation homolog Bprovided by HGNC Primary source HGNC:HGNC:44269 See related Ensembl:ENSG00000224107 AllianceGenome:HGNC:44269 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 ETDA; LINC00633 Expression Restricted expression toward testis (RPKM 5.6) See more Orthologs all
ETDC, Official Symbol ETDCprovided by HGNC Official Full Name embryonic testis differentiation homolog Cprovided by HGNC Primary source HGNC:HGNC:53450 See related Ensembl:ENSG00000283644 AllianceGenome:HGNC:53450 Gene type protein coding RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Orthologs all
ETF1, Official Symbol ETF1provided by HGNC Official Full Name eukaryotic translation termination factor 1provided by HGNC Primary source HGNC:HGNC:3477 See related Ensembl:ENSG00000120705 MIM:600285; AllianceGenome:HGNC:3477 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 ERF; RF1; ERF1; TB3-1; D5S1995; SUP45L1 Summary This gene encodes a class-1 polypeptide chain release factor. The encoded protein plays an essential role in directing termination of mRNA translation from the termination codons UAA, UAG and UGA. This protein is a component of the SURF complex which promotes degradation of prematurely terminated mRNAs via the mechanism of nonsense-mediated mRNA decay (NMD). Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 6, 7, and X. [provided by RefSeq, Aug 2013] Expression Ubiquitous expression in bone marrow (RPKM 46.6), esophagus (RPKM 37.2) and 25 other tissues See more Orthologs mouse all
ETFA, Official Symbol ETFAprovided by HGNC Official Full Name electron transfer flavoprotein subunit alphaprovided by HGNC Primary source HGNC:HGNC:3481 See related Ensembl:ENSG00000140374 MIM:608053; AllianceGenome:HGNC:3481 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 EMA; GA2; MADD Summary ETFA participates in catalyzing the initial step of the mitochondrial fatty acid beta-oxidation. It shuttles electrons between primary flavoprotein dehydrogenases and the membrane-bound electron transfer flavoprotein ubiquinone oxidoreductase. Defects in electron-transfer-flavoprotein have been implicated in type II glutaricaciduria in which multiple acyl-CoA dehydrogenase deficiencies result in large excretion of glutaric, lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in liver (RPKM 95.3), heart (RPKM 73.2) and 25 other tissues See more Orthologs mouse all
ETFB, Official Symbol ETFBprovided by HGNC Official Full Name electron transfer flavoprotein subunit betaprovided by HGNC Primary source HGNC:HGNC:3482 See related Ensembl:ENSG00000105379 MIM:130410; AllianceGenome:HGNC:3482 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 MADD; FP585 Summary This gene encodes electron-transfer-flavoprotein, beta polypeptide, which shuttles electrons between primary flavoprotein dehydrogenases involved in mitochondrial fatty acid and amino acid catabolism and the membrane-bound electron transfer flavoprotein ubiquinone oxidoreductase. The gene deficiencies have been implicated in type II glutaricaciduria. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in liver (RPKM 75.6), fat (RPKM 65.8) and 25 other tissues See more Orthologs mouse all
ETFBKMT, Official Symbol ETFBKMTprovided by HGNC Official Full Name electron transfer flavoprotein subunit beta lysine methyltransferaseprovided by HGNC Primary source HGNC:HGNC:28739 See related Ensembl:ENSG00000139160 MIM:615256; AllianceGenome:HGNC:28739 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 METTL20; C12orf72; ETFB-KMT Summary Enables heat shock protein binding activity and protein-lysine N-methyltransferase activity. Involved in negative regulation of electron transfer activity; negative regulation of fatty acid beta-oxidation using acyl-CoA dehydrogenase; and peptidyl-lysine trimethylation. Located in mitochondrial matrix. Part of protein-containing complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in kidney (RPKM 1.8), testis (RPKM 1.6) and 25 other tissues See more Orthologs mouse all
ETFDH, Official Symbol ETFDHprovided by HGNC Official Full Name electron transfer flavoprotein dehydrogenaseprovided by HGNC Primary source HGNC:HGNC:3483 See related Ensembl:ENSG00000171503 MIM:231675; AllianceGenome:HGNC:3483 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 MADD; ETFQO Summary This gene encodes a component of the electron-transfer system in mitochondria and is essential for electron transfer from a number of mitochondrial flavin-containing dehydrogenases to the main respiratory chain. Mutations in this gene are associated with glutaric acidemia. Alternatively spliced transcript variants that encode distinct isoforms have been observed. [provided by RefSeq, Aug 2013] Expression Ubiquitous expression in liver (RPKM 42.8), duodenum (RPKM 28.5) and 25 other tissues See more Orthologs mouse all
ETFRF1, Official Symbol ETFRF1provided by HGNC Official Full Name electron transfer flavoprotein regulatory factor 1provided by HGNC Primary source HGNC:HGNC:27052 See related Ensembl:ENSG00000205707 AllianceGenome:HGNC:27052 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 LYRM5 Summary Involved in respiratory electron transport chain. Located in mitochondrion. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 14.3), adrenal (RPKM 11.7) and 25 other tissues See more Orthologs mouse all
ETHE1, Official Symbol ETHE1provided by HGNC Official Full Name ETHE1 persulfide dioxygenaseprovided by HGNC Primary source HGNC:HGNC:23287 See related Ensembl:ENSG00000105755 MIM:608451; AllianceGenome:HGNC:23287 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 HSCO; YF13H12 Summary This gene encodes a member of the metallo beta-lactamase family of iron-containing proteins involved in the mitochondrial sulfide oxidation pathway. The encoded protein catalyzes the oxidation of a persulfide substrate to sulfite. Certain mutations in this gene cause ethylmalonic encephalopathy, an infantile metabolic disorder affecting the brain, gastrointestinal tract and peripheral vessels. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2016] Expression Broad expression in colon (RPKM 85.9), duodenum (RPKM 30.9) and 20 other tissues See more Orthologs mouse all
ETNK1, Official Symbol ETNK1provided by HGNC Official Full Name ethanolamine kinase 1provided by HGNC Primary source HGNC:HGNC:24649 See related Ensembl:ENSG00000139163 MIM:609858; AllianceGenome:HGNC:24649 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 EKI; EKI1; EKI 1; Nbla10396 Summary This gene encodes an ethanolamine kinase, which functions in the first committed step of the phosphatidylethanolamine synthesis pathway. This cytosolic enzyme is specific for ethanolamine and exhibits negligible kinase activity on choline. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in stomach (RPKM 14.8), colon (RPKM 12.5) and 25 other tissues See more Orthologs mouse all
ETNK2, Official Symbol ETNK2provided by HGNC Official Full Name ethanolamine kinase 2provided by HGNC Primary source HGNC:HGNC:25575 See related Ensembl:ENSG00000143845 MIM:609859; AllianceGenome:HGNC:25575 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 EKI2; HMFT1716 Summary The protein encoded by this gene is a member of choline/ethanolamine kinase family which catalyzes the first step of phosphatidylethanolamine (PtdEtn) biosynthesis via the cytidine diphosphate (CDP) ethanolamine pathway. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014] Expression Biased expression in testis (RPKM 38.7), liver (RPKM 35.9) and 9 other tissues See more Orthologs mouse all
ETNPPL, Official Symbol ETNPPLprovided by HGNC Official Full Name ethanolamine-phosphate phospho-lyaseprovided by HGNC Primary source HGNC:HGNC:14404 See related Ensembl:ENSG00000164089 MIM:614682; AllianceGenome:HGNC:14404 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 AGXT2L1 Summary Enables ethanolamine-phosphate phospho-lyase activity. Predicted to be located in mitochondrial matrix. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in liver (RPKM 37.5), brain (RPKM 36.7) and 3 other tissues See more Orthologs mouse all
ETS1, Official Symbol ETS1provided by HGNC Official Full Name ETS proto-oncogene 1, transcription factorprovided by HGNC Primary source HGNC:HGNC:3488 See related Ensembl:ENSG00000134954 MIM:164720; AllianceGenome:HGNC:3488 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 p54; ETS-1; EWSR2; c-ets-1 Summary This gene encodes a member of the ETS family of transcription factors, which are defined by the presence of a conserved ETS DNA-binding domain that recognizes the core consensus DNA sequence GGAA/T in target genes. These proteins function either as transcriptional activators or repressors of numerous genes, and are involved in stem cell development, cell senescence and death, and tumorigenesis. Alternatively spliced transcript variants encoding different isoforms have been described for this gene.[provided by RefSeq, Jul 2011] Expression Broad expression in lymph node (RPKM 31.2), spleen (RPKM 21.4) and 22 other tissues See more Orthologs mouse all
ETS1-AS1, Official Symbol ETS1-AS1provided by HGNC Official Full Name ETS1 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:53932 See related Ensembl:ENSG00000254588 AllianceGenome:HGNC:53932 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 pancEts-1 Expression Low expression observed in reference dataset See more
ETS2, Official Symbol ETS2provided by HGNC Official Full Name ETS proto-oncogene 2, transcription factorprovided by HGNC Primary source HGNC:HGNC:3489 See related Ensembl:ENSG00000157557 MIM:164740; AllianceGenome:HGNC:3489 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 ETS2IT1 Summary This gene encodes a transcription factor which regulates genes involved in development and apoptosis. The encoded protein is also a protooncogene and shown to be involved in regulation of telomerase. A pseudogene of this gene is located on the X chromosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2012] Expression Ubiquitous expression in spleen (RPKM 50.4), small intestine (RPKM 39.5) and 22 other tissues See more Orthologs mouse all
ETS2P1, Official Symbol ETS2P1provided by HGNC Official Full Name ETS2 pseudogene 1provided by HGNC Primary source HGNC:HGNC:55136 See related AllianceGenome:HGNC:55136 Gene type pseudo RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
ETV1, Official Symbol ETV1provided by HGNC Official Full Name ETS variant transcription factor 1provided by HGNC Primary source HGNC:HGNC:3490 See related Ensembl:ENSG00000006468 MIM:600541; AllianceGenome:HGNC:3490 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 ER81 Summary This gene encodes a member of the ETS (E twenty-six) family of transcription factors. The ETS proteins regulate many target genes that modulate biological processes like cell growth, angiogenesis, migration, proliferation and differentiation. All ETS proteins contain an ETS DNA-binding domain that binds to DNA sequences containing the consensus 5'-CGGA[AT]-3'. The protein encoded by this gene contains a conserved short acidic transactivation domain (TAD) in the N-terminal region, in addition to the ETS DNA-binding domain in the C-terminal region. This gene is involved in chromosomal translocations, which result in multiple fusion proteins including EWS-ETV1 in Ewing sarcoma and at least 10 ETV1 partners (see PMID: 19657377, Table 1) in prostate cancer. In addition to chromosomal rearrangement, this gene is overexpressed in prostate cancer, melanoma and gastrointestinal stromal tumor. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2016] Expression Biased expression in brain (RPKM 22.4), salivary gland (RPKM 11.8) and 12 other tissues See more Orthologs mouse all
ETV2, Official Symbol ETV2provided by HGNC Official Full Name ETS variant transcription factor 2provided by HGNC Primary source HGNC:HGNC:3491 See related Ensembl:ENSG00000105672 MIM:609358; AllianceGenome:HGNC:3491 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 ER71; ETSRP71 Summary Enables sequence-specific double-stranded DNA binding activity. Predicted to be involved in cell differentiation and regulation of transcription by RNA polymerase II. Predicted to act upstream of or within several processes, including cell surface receptor signaling pathway; positive regulation of endothelial cell differentiation; and positive regulation of macromolecule metabolic process. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in testis (RPKM 2.5), duodenum (RPKM 0.3) and 9 other tissues See more Orthologs mouse all