psui3905/ncbi_genes_summary huggingface dataset:
EIF5A, Official Symbol EIF5Aprovided by HGNC Official Full Name eukaryotic translation initiation factor 5Aprovided by HGNC Primary source HGNC:HGNC:3300 See related Ensembl:ENSG00000132507 MIM:600187; AllianceGenome:HGNC:3300 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 FABAS; EIF-5A; EIF5A1; eIF-4D; eIF5AI Summary Enables U6 snRNA binding activity and protein N-terminus binding activity. Involved in several processes, including cellular response to virus; positive regulation of intrinsic apoptotic signaling pathway by p53 class mediator; and tumor necrosis factor-mediated signaling pathway. Located in annulate lamellae; cytoplasm; and nucleus. Part of nuclear pore. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in esophagus (RPKM 53.8), appendix (RPKM 49.4) and 25 other tissues See more Orthologs mouse all
EIF5A2, Official Symbol EIF5A2provided by HGNC Official Full Name eukaryotic translation initiation factor 5A2provided by HGNC Primary source HGNC:HGNC:3301 See related Ensembl:ENSG00000163577 MIM:605782; AllianceGenome:HGNC:3301 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 EIF-5A2; eIF5AII Summary Predicted to enable translation elongation factor activity. Predicted to be involved in positive regulation of translational elongation. Located in intracellular membrane-bounded organelle. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in brain (RPKM 2.4), testis (RPKM 2.3) and 25 other tissues See more Orthologs mouse all
EIF5AL1, Official Symbol EIF5AL1provided by HGNC Official Full Name eukaryotic translation initiation factor 5A like 1provided by HGNC Primary source HGNC:HGNC:17419 See related Ensembl:ENSG00000253626 AllianceGenome:HGNC:17419 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 EIF5A; eIF-4D; eIF-5A; EIF5AP1; eIF-5A1; eIF-5A-1; bA342M3.3 Summary Predicted to enable translation elongation factor activity. Predicted to be involved in positive regulation of translational elongation. Predicted to be located in endoplasmic reticulum membrane. Predicted to be part of nuclear pore. [provided by Alliance of Genome Resources, Apr 2022] Orthologs all
EIF5AP2, Official Symbol EIF5AP2provided by HGNC Official Full Name eukaryotic translation initiation factor 5A pseudogene 2provided by HGNC Primary source HGNC:HGNC:3303 See related Ensembl:ENSG00000267679 AllianceGenome:HGNC:3303 Gene type pseudo RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
EIF5B, Official Symbol EIF5Bprovided by HGNC Official Full Name eukaryotic translation initiation factor 5Bprovided by HGNC Primary source HGNC:HGNC:30793 See related Ensembl:ENSG00000158417 MIM:606086; AllianceGenome:HGNC:30793 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 IF2 Summary Accurate initiation of translation in eukaryotes is complex and requires many factors, some of which are composed of multiple subunits. The process is simpler in prokaryotes which have only three initiation factors (IF1, IF2, IF3). Two of these factors are conserved in eukaryotes: the homolog of IF1 is eIF1A and the homolog of IF2 is eIF5B. This gene encodes eIF5B. Factors eIF1A and eIF5B interact on the ribosome along with other initiation factors and GTP to position the initiation methionine tRNA on the start codon of the mRNA so that translation initiates accurately. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in heart (RPKM 26.2), testis (RPKM 23.3) and 25 other tissues See more Orthologs mouse all
EIF5P1, Official Symbol EIF5P1provided by HGNC Official Full Name eukaryotic translation initiation factor 5 pseudogene 1provided by HGNC Primary source HGNC:HGNC:51465 See related AllianceGenome:HGNC:51465 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
EIF6, Official Symbol EIF6provided by HGNC Official Full Name eukaryotic translation initiation factor 6provided by HGNC Primary source HGNC:HGNC:6159 See related Ensembl:ENSG00000242372 MIM:602912; AllianceGenome:HGNC:6159 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 CAB; EIF3A; eIF-6; p27BBP; ITGB4BP; b(2)gcn; p27(BBP) Summary Hemidesmosomes are structures which link the basal lamina to the intermediate filament cytoskeleton. An important functional component of hemidesmosomes is the integrin beta-4 subunit (ITGB4), a protein containing two fibronectin type III domains. The protein encoded by this gene binds to the fibronectin type III domains of ITGB4 and may help link ITGB4 to the intermediate filament cytoskeleton. The encoded protein, which is insoluble and found both in the nucleus and in the cytoplasm, can function as a translation initiation factor and prevent the association of the 40S and 60S ribosomal subunits. Multiple non-protein coding transcript variants and variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jun 2012] Expression Ubiquitous expression in esophagus (RPKM 55.8), duodenum (RPKM 45.2) and 25 other tissues See more Orthologs mouse all
EIPR1, Official Symbol EIPR1provided by HGNC Official Full Name EARP complex and GARP complex interacting protein 1provided by HGNC Primary source HGNC:HGNC:12383 See related Ensembl:ENSG00000032389 MIM:608998; AllianceGenome:HGNC:12383 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 TSSC1; EIPR-1 Summary This gene has been reported in PMID 9403053 as one of several tumor-suppressing subtransferable fragments located in the imprinted gene domain of 11p15.5, an important tumor-suppressor gene region. Alterations in this region have been associated with the Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocortical carcinoma, and lung, ovarian, and breast cancer. Alignment of this gene to genomic sequence data suggests that this gene resides on chromosome 2 rather than chromosome 11. [provided by RefSeq, Dec 2008] Expression Ubiquitous expression in thyroid (RPKM 8.8), brain (RPKM 8.2) and 25 other tissues See more Orthologs mouse all
EIPR1-IT1, Official Symbol EIPR1-IT1provided by HGNC Official Full Name EIPR1 intronic transcript 1provided by HGNC Primary source HGNC:HGNC:41392 See related AllianceGenome:HGNC:41392 Gene type ncRNA Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as TSSC1-IT1 Annotation information not in current annotation release
ELAC1, Official Symbol ELAC1provided by HGNC Official Full Name elaC ribonuclease Z 1provided by HGNC Primary source HGNC:HGNC:14197 See related Ensembl:ENSG00000141642 MIM:608079; AllianceGenome:HGNC:14197 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 D29 Summary Predicted to enable 3'-tRNA processing endoribonuclease activity. Predicted to be involved in tRNA 3'-trailer cleavage, endonucleolytic. Located in cytosol and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in thyroid (RPKM 4.4), testis (RPKM 3.5) and 25 other tissues See more Orthologs mouse all
ELAC2, Official Symbol ELAC2provided by HGNC Official Full Name elaC ribonuclease Z 2provided by HGNC Primary source HGNC:HGNC:14198 See related Ensembl:ENSG00000006744 MIM:605367; AllianceGenome:HGNC:14198 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 ELC2; HPC2; COXPD17 Summary The protein encoded by this gene has a C-terminal domain with tRNA 3&#8242; processing endoribonuclease activity, which catalyzes the removal of the 3' trailer from precursor tRNAs. The protein also interacts with activated Smad family member 2 (Smad2) and its nuclear partner forkhead box H1 (also known as FAST-1), and reduced expression can suppress transforming growth factor-beta induced growth arrest. Mutations in this gene result in an increased risk of prostate cancer. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009] Expression Ubiquitous expression in colon (RPKM 15.0), testis (RPKM 14.9) and 25 other tissues See more Orthologs mouse all
ELANE, Official Symbol ELANEprovided by HGNC Official Full Name elastase, neutrophil expressedprovided by HGNC Primary source HGNC:HGNC:3309 See related Ensembl:ENSG00000197561 MIM:130130; AllianceGenome:HGNC:3309 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 GE; NE; HLE; HNE; ELA2; SCN1; PMN-E Summary Elastases form a subfamily of serine proteases that hydrolyze many proteins in addition to elastin. Humans have six elastase genes which encode structurally similar proteins. The encoded preproprotein is proteolytically processed to generate the active protease. Following activation, this protease hydrolyzes proteins within specialized neutrophil lysosomes, called azurophil granules, as well as proteins of the extracellular matrix. The enzyme may play a role in degenerative and inflammatory diseases through proteolysis of collagen-IV and elastin. This protein also degrades the outer membrane protein A (OmpA) of E. coli as well as the virulence factors of such bacteria as Shigella, Salmonella and Yersinia. Mutations in this gene are associated with cyclic neutropenia and severe congenital neutropenia (SCN). This gene is present in a gene cluster on chromosome 19. [provided by RefSeq, Jan 2016] Expression Restricted expression toward bone marrow (RPKM 675.1) See more Orthologs mouse all
ELAPOR1, Official Symbol ELAPOR1provided by HGNC Official Full Name endosome-lysosome associated apoptosis and autophagy regulator 1provided by HGNC Primary source HGNC:HGNC:29618 See related Ensembl:ENSG00000116299 MIM:611298; AllianceGenome:HGNC:29618 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 EIG121; KIAA1324 Summary Expression of this gene is induced by estrogen and the encoded protein has been characterized as a transmembrane protein. The encoded protein has been found in to correlate with survival in certain carcinomas (PMID: 21102415) and may be important for cellular response to stress (PMID: 21072319). Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2012] Expression Biased expression in stomach (RPKM 32.4), salivary gland (RPKM 26.9) and 13 other tissues See more Orthologs mouse all
ELAPOR2, Official Symbol ELAPOR2provided by HGNC Official Full Name endosome-lysosome associated apoptosis and autophagy regulator family member 2provided by HGNC Primary source HGNC:HGNC:21945 See related Ensembl:ENSG00000164659 MIM:614048; AllianceGenome:HGNC:21945 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 EIG121L; KIAA1324L Summary Predicted to enable BMP receptor binding activity. Predicted to be involved in negative regulation of nervous system development; positive regulation of BMP signaling pathway; and positive regulation of epidermis development. Predicted to be located in plasma membrane. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in lung (RPKM 7.6), brain (RPKM 5.4) and 20 other tissues See more Orthologs mouse all
ELAVL1, Official Symbol ELAVL1provided by HGNC Official Full Name ELAV like RNA binding protein 1provided by HGNC Primary source HGNC:HGNC:3312 See related Ensembl:ENSG00000066044 MIM:603466; AllianceGenome:HGNC:3312 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 HUR; Hua; MelG; ELAV1 Summary The protein encoded by this gene is a member of the ELAVL family of RNA-binding proteins that contain several RNA recognition motifs, and selectively bind AU-rich elements (AREs) found in the 3' untranslated regions of mRNAs. AREs signal degradation of mRNAs as a means to regulate gene expression, thus by binding AREs, the ELAVL family of proteins play a role in stabilizing ARE-containing mRNAs. This gene has been implicated in a variety of biological processes and has been linked to a number of diseases, including cancer. It is highly expressed in many cancers, and could be potentially useful in cancer diagnosis, prognosis, and therapy. [provided by RefSeq, Sep 2012] Expression Ubiquitous expression in testis (RPKM 14.6), brain (RPKM 9.9) and 25 other tissues See more Orthologs mouse all
ELAVL2, Official Symbol ELAVL2provided by HGNC Official Full Name ELAV like RNA binding protein 2provided by HGNC Primary source HGNC:HGNC:3313 See related Ensembl:ENSG00000107105 MIM:601673; AllianceGenome:HGNC:3313 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 HUB; HELN1; HEL-N1 Summary In humans, the ELAV like RNA binding protein gene family has four members (ELAVL1-4). ELAVL RNA binding proteins recognize AU-rich elements in the 3' UTRs of gene transcripts and thereby regulate gene expression post-transcriptionally. The protein encoded by this gene binds to several 3' UTRs, including its own and also that of FOS, ID, and POU5F1. This gene encodes ELAVL2 and, like ELAVL3 and ELAVL4, is expressed specifically in neurons and primarily localizes to the cytoplasm. This protein also forms a cytosolic complex with the normally nuclear-localized ELAVL1 protein. Alternative splicing of this gene results in multiple transcript variants encoding distinct protein isoforms. [provided by RefSeq, Jul 2020] Expression Biased expression in testis (RPKM 13.9) and brain (RPKM 8.2) See more Orthologs mouse all
ELAVL3, Official Symbol ELAVL3provided by HGNC Official Full Name ELAV like RNA binding protein 3provided by HGNC Primary source HGNC:HGNC:3314 See related Ensembl:ENSG00000196361 MIM:603458; AllianceGenome:HGNC:3314 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 HUC; HUCL; PLE21 Summary A member of the ELAVL protein family, ELAV-like 3 is a neural-specific RNA-binding protein which contains three RNP-type RNA recognition motifs. The observation that ELAVL3 is one of several Hu antigens (neuronal-specific RNA-binding proteins) recognized by the anti-Hu serum antibody present in sera from patients with paraneoplastic encephalomyelitis and sensory neuronopathy (PEM/PSN) suggests it has a role in neurogenesis. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Expression Restricted expression toward brain (RPKM 22.9) See more Orthologs mouse all
ELAVL4, Official Symbol ELAVL4provided by HGNC Official Full Name ELAV like RNA binding protein 4provided by HGNC Primary source HGNC:HGNC:3315 See related Ensembl:ENSG00000162374 MIM:168360; AllianceGenome:HGNC:3315 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 HUD; PNEM Summary Enables mRNA 3'-UTR AU-rich region binding activity; poly(A) binding activity; and pre-mRNA intronic pyrimidine-rich binding activity. Involved in 3'-UTR-mediated mRNA stabilization; RNA processing; and positive regulation of 3'-UTR-mediated mRNA stabilization. Predicted to be located in axon; cytoplasm; and dendrite. Predicted to be part of polysomal ribosome. Predicted to be active in glutamatergic synapse. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in brain (RPKM 9.5), adrenal (RPKM 2.6) and 2 other tissues See more Orthologs mouse all
ELF1, Official Symbol ELF1provided by HGNC Official Full Name E74 like ETS transcription factor 1provided by HGNC Primary source HGNC:HGNC:3316 See related Ensembl:ENSG00000120690 MIM:189973; AllianceGenome:HGNC:3316 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 RIA1; EFTUD1 Summary This gene encodes an E26 transformation-specific related transcription factor. The encoded protein is primarily expressed in lymphoid cells and acts as both an enhancer and a repressor to regulate transcription of various genes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2009] Expression Ubiquitous expression in bone marrow (RPKM 46.7), lymph node (RPKM 34.5) and 25 other tissues See more Orthologs mouse all
ELF2, Official Symbol ELF2provided by HGNC Official Full Name E74 like ETS transcription factor 2provided by HGNC Primary source HGNC:HGNC:3317 See related Ensembl:ENSG00000109381 MIM:619798; AllianceGenome:HGNC:3317 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 EU32; NERF; NERF-2; NERF-1A; NERF-1B; NERF-1a,b Summary Enables DNA-binding transcription factor activity, RNA polymerase II-specific and sequence-specific double-stranded DNA binding activity. Involved in negative regulation of transcription, DNA-templated; positive regulation of transcription, DNA-templated; and regulation of transcription by RNA polymerase II. Located in cytosol and nuclear body. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 17.8), bone marrow (RPKM 13.2) and 25 other tissues See more Orthologs mouse all
ELF3, Official Symbol ELF3provided by HGNC Official Full Name E74 like ETS transcription factor 3provided by HGNC Primary source HGNC:HGNC:3318 See related Ensembl:ENSG00000163435 MIM:602191; AllianceGenome:HGNC:3318 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 ERT; ESX; EPR-1; ESE-1 Summary Enables DNA-binding transcription activator activity, RNA polymerase II-specific and sequence-specific double-stranded DNA binding activity. Involved in inflammatory response; negative regulation of transcription, DNA-templated; and positive regulation of transcription by RNA polymerase II. Located in Golgi apparatus; cytosol; and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in colon (RPKM 88.6), stomach (RPKM 68.2) and 13 other tissues See more Orthologs mouse all
ELF3-AS1, Official Symbol ELF3-AS1provided by HGNC Official Full Name ELF3 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:40211 See related AllianceGenome:HGNC:40211 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 SCAT7 Expression Broad expression in urinary bladder (RPKM 3.6), colon (RPKM 3.1) and 22 other tissues See more
ELF4, Official Symbol ELF4provided by HGNC Official Full Name E74 like ETS transcription factor 4provided by HGNC Primary source HGNC:HGNC:3319 See related Ensembl:ENSG00000102034 MIM:300775; AllianceGenome:HGNC:3319 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 MEF; ELFR; AIFBL2 Summary The protein encoded by this gene is a transcriptional activator that binds and activates the promoters of the CSF2, IL3, IL8, and PRF1 genes. The encoded protein is involved in natural killer cell development and function, innate immunity, and induction of cell cycle arrest in naive CD8+ cells. Two transcript variants encoding the same protein have been found for this gene.[provided by RefSeq, Jan 2010] Expression Broad expression in bone marrow (RPKM 18.8), placenta (RPKM 12.9) and 21 other tissues See more Orthologs mouse all
ELF5, Official Symbol ELF5provided by HGNC Official Full Name E74 like ETS transcription factor 5provided by HGNC Primary source HGNC:HGNC:3320 See related Ensembl:ENSG00000135374 MIM:605169; AllianceGenome:HGNC:3320 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 ESE2 Summary This gene encodes an epithelium-specific ETS family transcription factor. In addition to its role in regulating the later stages of terminal differentiation of keratinocytes, it appears to regulate a number of epithelium-specific genes found in tissues containing glandular epithelium such as salivary gland and prostate. It has very low affinity to DNA due to its negative regulatory domain at the amino terminus. This gene has been implicated as a tumor suppressive transcription factor in breast cancer. [provided by RefSeq, May 2022] Annotation information Note: This gene has been reviewed for its involvement in coronavirus biology, and is locus in the vicinity of disease-associated variant(s). Expression Biased expression in salivary gland (RPKM 27.3), kidney (RPKM 9.7) and 2 other tissues See more Orthologs mouse all
ELFN1, Official Symbol ELFN1provided by HGNC Official Full Name extracellular leucine rich repeat and fibronectin type III domain containing 1provided by HGNC Primary source HGNC:HGNC:33154 See related Ensembl:ENSG00000225968 MIM:614964; AllianceGenome:HGNC:33154 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 PPP1R28 Summary Predicted to enable protein phosphatase inhibitor activity. Predicted to be involved in synapse organization. Predicted to be located in dendrite and excitatory synapse. Predicted to be active in extracellular matrix and extracellular space. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in liver (RPKM 1.3), kidney (RPKM 0.9) and 14 other tissues See more Orthologs mouse all
ELFN1-AS1, Official Symbol ELFN1-AS1provided by HGNC Official Full Name ELFN1 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:39071 See related Ensembl:ENSG00000236081 AllianceGenome:HGNC:39071 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 MYCLo-2 Expression Low expression observed in reference dataset See more
ELK1, Official Symbol ELK1provided by HGNC Official Full Name ETS transcription factor ELK1provided by HGNC Primary source HGNC:HGNC:3321 See related Ensembl:ENSG00000126767 MIM:311040; AllianceGenome:HGNC:3321 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 is a member of the Ets family of transcription factors and of the ternary complex factor (TCF) subfamily. Proteins of the TCF subfamily form a ternary complex by binding to the the serum response factor and the serum response element in the promoter of the c-fos proto-oncogene. The protein encoded by this gene is a nuclear target for the ras-raf-MAPK signaling cascade. This gene produces multiple isoforms by using alternative translational start codons and by alternative splicing. Related pseudogenes have been identified on chromosomes 7 and 14. [provided by RefSeq, Mar 2012] Expression Ubiquitous expression in ovary (RPKM 19.1), brain (RPKM 15.9) and 25 other tissues See more Orthologs mouse all
ELK1P1, Official Symbol ELK1P1provided by HGNC Official Full Name ELK1 pseudogene 1provided by HGNC Primary source HGNC:HGNC:39021 See related Ensembl:ENSG00000234359 AllianceGenome:HGNC:39021 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
ELK3, Official Symbol ELK3provided by HGNC Official Full Name ETS transcription factor ELK3provided by HGNC Primary source HGNC:HGNC:3325 See related Ensembl:ENSG00000111145 MIM:600247; AllianceGenome:HGNC:3325 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 ERP; NET; SAP2; SAP-2 Summary This gene encodes a member of the ETS-domain transcription factor family and the ternary complex factor (TCF) subfamily. Proteins in this subfamily regulate transcription when recruited by serum response factor to bind to serum response elements. This protein is activated by signal-induced phosphorylation; studies in rodents suggest that it is a transcriptional inhibitor in the absence of Ras, but activates transcription when Ras is present. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015] Annotation information Note: NET is an alias on both SLC6A2 (Gene ID: 6530, "norepinephrine transporter") and ELK3 (Gene ID: 2004). [01 Jun 2018] Expression Ubiquitous expression in spleen (RPKM 23.7), endometrium (RPKM 22.8) and 24 other tissues See more Orthologs mouse all
ELK4, Official Symbol ELK4provided by HGNC Official Full Name ETS transcription factor ELK4provided by HGNC Primary source HGNC:HGNC:3326 See related Ensembl:ENSG00000158711 MIM:600246; AllianceGenome:HGNC:3326 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 SAP1 Summary This gene is a member of the Ets family of transcription factors and of the ternary complex factor (TCF) subfamily. Proteins of the TCF subfamily form a ternary complex by binding to the the serum response factor and the serum reponse element in the promoter of the c-fos proto-oncogene. The protein encoded by this gene is phosphorylated by the kinases, MAPK1 and MAPK8. Several transcript variants have been described for this gene. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in prostate (RPKM 12.4), lymph node (RPKM 7.6) and 25 other tissues See more Orthologs mouse all
ELL, Official Symbol ELLprovided by HGNC Official Full Name elongation factor for RNA polymerase IIprovided by HGNC Primary source HGNC:HGNC:23114 See related Ensembl:ENSG00000105656 MIM:600284; AllianceGenome:HGNC:23114 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 MEN; ELL1; PPP1R68; C19orf17 Summary Enables phosphatase binding activity. Involved in positive regulation of transcription, DNA-templated and snRNA transcription. Located in cytosol; nuclear body; and transcriptionally active chromatin. Part of transcription elongation factor complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in bone marrow (RPKM 9.4), testis (RPKM 9.4) and 25 other tissues See more Orthologs mouse all
ELL2, Official Symbol ELL2provided by HGNC Official Full Name elongation factor for RNA polymerase II 2provided by HGNC Primary source HGNC:HGNC:17064 See related Ensembl:ENSG00000118985 MIM:601874; AllianceGenome:HGNC:17064 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 MRCCAT1 Summary Involved in snRNA transcription by RNA polymerase II. Located in nucleoplasm. Part of transcription elongation factor complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in esophagus (RPKM 18.5), salivary gland (RPKM 14.3) and 25 other tissues See more Orthologs mouse all
ELL2P2, Official Symbol ELL2P2provided by HGNC Official Full Name elongation factor for RNA polymerase II 2 pseudogene 2provided by HGNC Primary source HGNC:HGNC:39344 See related Ensembl:ENSG00000251051 AllianceGenome:HGNC:39344 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
ELL2P3, Official Symbol ELL2P3provided by HGNC Official Full Name elongation factor for RNA polymerase II 2 pseudogene 3provided by HGNC Primary source HGNC:HGNC:39345 See related Ensembl:ENSG00000234765 AllianceGenome:HGNC:39345 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
ELL2P4, Official Symbol ELL2P4provided by HGNC Official Full Name elongation factor for RNA polymerase II 2 pseudogene 4provided by HGNC Primary source HGNC:HGNC:39346 See related AllianceGenome:HGNC:39346 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
ELL3, Official Symbol ELL3provided by HGNC Official Full Name elongation factor for RNA polymerase II 3provided by HGNC Primary source HGNC:HGNC:23113 See related Ensembl:ENSG00000128886 MIM:609885; AllianceGenome:HGNC:23113 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 cis-regulatory region sequence-specific DNA binding activity. Involved in positive regulation of transcription, DNA-templated and transcription by RNA polymerase II. Located in several cellular components, including chromosome; cytosol; and nuclear lumen. Part of transcription elongation factor complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in thyroid (RPKM 75.8), prostate (RPKM 58.8) and 25 other tissues See more Orthologs mouse all
ELMO1, Official Symbol ELMO1provided by HGNC Official Full Name engulfment and cell motility 1provided by HGNC Primary source HGNC:HGNC:16286 See related Ensembl:ENSG00000155849 MIM:606420; AllianceGenome:HGNC:16286 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 CED12; CED-12; ELMO-1 Summary This gene encodes a member of the engulfment and cell motility protein family. These proteins interact with dedicator of cytokinesis proteins to promote phagocytosis and cell migration. Increased expression of this gene and dedicator of cytokinesis 1 may promote glioma cell invasion, and single nucleotide polymorphisms in this gene may be associated with diabetic nephropathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013] Expression Broad expression in brain (RPKM 17.7), thyroid (RPKM 16.1) and 22 other tissues See more Orthologs mouse all
ELMO1-AS1, Official Symbol ELMO1-AS1provided by HGNC Official Full Name ELMO1 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:40765 See related Ensembl:ENSG00000224101 AllianceGenome:HGNC:40765 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 Broad expression in thyroid (RPKM 6.4), spleen (RPKM 4.9) and 23 other tissues See more
ELMO2, Official Symbol ELMO2provided by HGNC Official Full Name engulfment and cell motility 2provided by HGNC Primary source HGNC:HGNC:17233 See related Ensembl:ENSG00000062598 MIM:606421; AllianceGenome:HGNC:17233 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 VMPI; CED12; CED-12; ELMO-2; Ced-12A Summary The protein encoded by this gene interacts with the dedicator of cyto-kinesis 1 protein. Similarity to a C. elegans protein suggests that this protein may function in phagocytosis of apoptotic cells and in cell migration. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015] Expression Ubiquitous expression in brain (RPKM 20.6), testis (RPKM 16.7) and 25 other tissues See more Orthologs mouse all
ELMO3, Official Symbol ELMO3provided by HGNC Official Full Name engulfment and cell motility 3provided by HGNC Primary source HGNC:HGNC:17289 See related Ensembl:ENSG00000102890 MIM:606422; AllianceGenome:HGNC:17289 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 CED12; CED-12; ELMO-3 Summary The protein encoded by this gene is similar to a C. elegans protein that functions in phagocytosis of apoptotic cells and in cell migration. Other members of this small family of engulfment and cell motility (ELMO) proteins have been shown to interact with the dedicator of cyto-kinesis 1 protein to promote phagocytosis and effect cell shape changes. [provided by RefSeq, Jul 2008] Expression Broad expression in duodenum (RPKM 15.2), skin (RPKM 12.9) and 20 other tissues See more Orthologs mouse all
ELMOD1, Official Symbol ELMOD1provided by HGNC Official Full Name ELMO domain containing 1provided by HGNC Primary source HGNC:HGNC:25334 See related Ensembl:ENSG00000110675 MIM:615456; AllianceGenome:HGNC:25334 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 Enables GTPase activator activity. Predicted to be involved in positive regulation of GTPase activity. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in brain (RPKM 21.6), skin (RPKM 11.2) and 2 other tissues See more Orthologs mouse all
ELMOD2, Official Symbol ELMOD2provided by HGNC Official Full Name ELMO domain containing 2provided by HGNC Primary source HGNC:HGNC:28111 See related Ensembl:ENSG00000179387 MIM:610196; AllianceGenome:HGNC:28111 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 9830169G11Rik Summary This gene encodes one of six engulfment and motility (ELMO) domain-containing proteins. This gene is thought to play a role in antiviral responses. Mutations in this gene may be involved in the cause of familial idiopathic pulmonary fibrosis. [provided by RefSeq, Sep 2010] Expression Ubiquitous expression in thyroid (RPKM 4.2), adrenal (RPKM 3.3) and 25 other tissues See more Orthologs mouse all
ELMOD3, Official Symbol ELMOD3provided by HGNC Official Full Name ELMO domain containing 3provided by HGNC Primary source HGNC:HGNC:26158 See related Ensembl:ENSG00000115459 MIM:615427; AllianceGenome:HGNC:26158 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 LST3; RBED1; RBM29; DFNA81; DFNB88 Summary This gene encodes a member of the engulfment and cell motility family of GTPase-activating proteins that regulate Arf GTPase proteins. Members of this family are defined by a conserved engulfment and cell motility domain. In rat cochlea, the encoded protein is found in stereocilia, kinocilia and cuticular plate of developing hair cells suggesting a function for this protein in cochlear sensory cells. An allelic variant of this family has been associated with autosomal recessive nonsyndromic deafness-88 in humans. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016] Expression Ubiquitous expression in fat (RPKM 29.3), skin (RPKM 5.6) and 24 other tissues See more Orthologs mouse all
ELN, Official Symbol ELNprovided by HGNC Official Full Name elastinprovided by HGNC Primary source HGNC:HGNC:3327 See related Ensembl:ENSG00000049540 MIM:130160; AllianceGenome:HGNC:3327 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 WS; WBS; SVAS; ADCL1 Summary This gene encodes a protein that is one of the two components of elastic fibers. Elastic fibers comprise part of the extracellular matrix and confer elasticity to organs and tissues including the heart, skin, lungs, ligaments, and blood vessels. The encoded protein is rich in hydrophobic amino acids such as glycine and proline, which form mobile hydrophobic regions bounded by crosslinks between lysine residues. Degradation products of the encoded protein, known as elastin-derived peptides or elastokines, bind the elastin receptor complex and other receptors and stimulate migration and proliferation of monocytes and skin fibroblasts. Elastokines can also contribute to cancer progression. Deletions and mutations in this gene are associated with supravalvular aortic stenosis (SVAS) and autosomal dominant cutis laxa. [provided by RefSeq, Aug 2017] Expression Broad expression in urinary bladder (RPKM 40.8), gall bladder (RPKM 38.1) and 24 other tissues See more Orthologs mouse all
ELN-AS1, Official Symbol ELN-AS1provided by HGNC Official Full Name ELN antisense RNA 1provided by HGNC Primary source HGNC:HGNC:40212 See related Ensembl:ENSG00000232415 AllianceGenome:HGNC:40212 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 CTB-51J22.1 Expression Broad expression in lung (RPKM 6.1), gall bladder (RPKM 6.1) and 24 other tissues See more
ELOA, Official Symbol ELOAprovided by HGNC Official Full Name elongin Aprovided by HGNC Primary source HGNC:HGNC:11620 See related Ensembl:ENSG00000011007 MIM:600786; AllianceGenome:HGNC:11620 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 SIII; ELOA1; TCEB3; TCEB3A; SIII p110 Summary This gene encodes the protein elongin A, which is a subunit of the transcription factor B (SIII) complex. The SIII complex is composed of elongins A/A2, B and C. It activates elongation by RNA polymerase II by suppressing transient pausing of the polymerase at many sites within transcription units. Elongin A functions as the transcriptionally active component of the SIII complex, whereas elongins B and C are regulatory subunits. Elongin A2 is specifically expressed in the testis, and capable of forming a stable complex with elongins B and C. The von Hippel-Lindau tumor suppressor protein binds to elongins B and C, and thereby inhibits transcription elongation. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in lung (RPKM 15.9), thyroid (RPKM 14.1) and 25 other tissues See more Orthologs mouse all
ELOA-AS1, Official Symbol ELOA-AS1provided by HGNC Official Full Name ELOA antisense RNA 1provided by HGNC Primary source HGNC:HGNC:50582 See related Ensembl:ENSG00000236810 AllianceGenome:HGNC:50582 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 TCEB3-AS1 Expression Ubiquitous expression in lung (RPKM 18.7), fat (RPKM 14.4) and 25 other tissues See more
ELOA2, Official Symbol ELOA2provided by HGNC Official Full Name elongin A2provided by HGNC Primary source HGNC:HGNC:30771 See related Ensembl:ENSG00000206181 MIM:609522; AllianceGenome:HGNC:30771 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 HsT832; TCEB3B; TCEB3L Summary This gene encodes the transcriptionally active subunit of the SIII (or elongin) transcription elongation factor complex, which also includes two regulatory subunits, elongins B and C. This complex acts to increase the rate of RNA chain elongation by RNA polymerase II by suppressing transient pausing of the polymerase at many sites along the DNA template. Whereas a related protein with similar function, elongin A, is ubiquitously expressed, the encoded protein is specifically expressed in the testis, suggesting it may have a role in spermatogenesis. [provided by RefSeq, Jul 2008] Orthologs all
ELOAP1, Official Symbol ELOAP1provided by HGNC Official Full Name ELOA pseudogene 1provided by HGNC Primary source HGNC:HGNC:54534 See related Ensembl:ENSG00000235640 AllianceGenome:HGNC:54534 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
ELOB, Official Symbol ELOBprovided by HGNC Official Full Name elongin Bprovided by HGNC Primary source HGNC:HGNC:11619 See related Ensembl:ENSG00000103363 MIM:600787; AllianceGenome:HGNC:11619 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 SIII; TCEB2 Summary This gene encodes the protein elongin B, which is a subunit of the transcription factor B (SIII) complex. The SIII complex is composed of elongins A/A2, B and C. It activates elongation by RNA polymerase II by suppressing transient pausing of the polymerase at many sites within transcription units. Elongin A functions as the transcriptionally active component of the SIII complex, whereas elongins B and C are regulatory subunits. Elongin A2 is specifically expressed in the testis, and capable of forming a stable complex with elongins B and C. The von Hippel-Lindau tumor suppressor protein binds to elongins B and C, and thereby inhibits transcription elongation. Two alternatively spliced transcript variants encoding different isoforms have been described for this gene. Pseudogenes have been identified on chromosomes 11 and 13. [provided by RefSeq, Aug 2008] Expression Ubiquitous expression in testis (RPKM 67.4), adrenal (RPKM 41.2) and 25 other tissues See more Orthologs mouse all
ELOBP1, Official Symbol ELOBP1provided by HGNC Official Full Name elongin B pseudogene 1provided by HGNC Primary source HGNC:HGNC:39719 See related Ensembl:ENSG00000234152 AllianceGenome:HGNC:39719 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 TCEB2P1
ELOBP2, Official Symbol ELOBP2provided by HGNC Official Full Name elongin B pseudogene 2provided by HGNC Primary source HGNC:HGNC:39720 See related Ensembl:ENSG00000255262 AllianceGenome:HGNC:39720 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 TCEB2P2
ELOBP3, Official Symbol ELOBP3provided by HGNC Official Full Name elongin B pseudogene 3provided by HGNC Primary source HGNC:HGNC:39721 See related Ensembl:ENSG00000232285 AllianceGenome:HGNC:39721 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 TCEB2P3
ELOBP4, Official Symbol ELOBP4provided by HGNC Official Full Name elongin B pseudogene 4provided by HGNC Primary source HGNC:HGNC:39722 See related Ensembl:ENSG00000234167 AllianceGenome:HGNC:39722 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 TCEB2P4