ETV6

ETV6
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1JI7, 1LKY, 2DAO, 2QAR, 2QB0, 2QB1
Identifiers
Aliases	ETV6, TEL, TEL/ABL, THC5, ETS variant 6, ETS variant transcription factor 6
External IDs	OMIM: 600618; MGI: 109336; HomoloGene: 37560; GeneCards: ETV6; OMA:ETV6 - orthologs
Gene location (Human) Chr. Chromosome 12 (human)[1] Band 12p13.2 Start 11,649,674 bp[1] End 11,895,377 bp[1]
Gene location (Mouse) Chr. Chromosome 6 (mouse)[2] Band 6 G1|6 64.58 cM Start 134,012,663 bp[2] End 134,247,121 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in mucosa of paranasal sinus parotid gland lactiferous duct olfactory zone of nasal mucosa epithelium of nasopharynx saphenous vein monocyte tibial arteries minor salivary glands tonsil Top expressed in tail of embryo genital tubercle lacrimal gland cumulus cell vestibular membrane of cochlear duct internal carotid artery external carotid artery conjunctival fornix granulocyte submandibular gland More reference expression data BioGPS More reference expression data
Gene ontology Molecular function DNA-binding transcription factor activity RNA polymerase II cis-regulatory region sequence-specific DNA binding DNA binding sequence-specific DNA binding DNA-binding transcription activator activity, RNA polymerase II-specific RNA polymerase II transcription regulatory region sequence-specific DNA binding protein binding DNA-binding transcription repressor activity, RNA polymerase II-specific protein domain specific binding DNA-binding transcription factor activity, RNA polymerase II-specific Cellular component nucleolus nucleus cytosol Biological process hematopoietic stem cell proliferation cell differentiation regulation of transcription, DNA-templated negative regulation of transcription by RNA polymerase II transcription by RNA polymerase II positive regulation of transcription by RNA polymerase II transcription, DNA-templated vitellogenesis mesenchymal cell apoptotic process neurogenesis regulation of transcription by RNA polymerase II Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 2120 14011 Ensembl ENSG00000139083 ENSMUSG00000030199 UniProt P41212 P97360 RefSeq (mRNA) NM_001987 NM_007961 NM_001303102 RefSeq (protein) NP_001978 NP_001290031 NP_031987 Location (UCSC) Chr 12: 11.65 – 11.9 Mb Chr 6: 134.01 – 134.25 Mb PubMed search [3] [4]
Wikidata
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ETV6 (i.e. translocation-Ets-leukemia virus) protein is a transcription factor that in humans is encoded by the ETV6 (previously known as TEL) gene. The ETV6 protein regulates the development and growth of diverse cell types, particularly those of hematological tissues. However, its gene, ETV6 frequently suffers various mutations that lead to an array of potentially lethal cancers, i.e., ETV6 is a clinically significant proto-oncogene in that it can fuse with other genes to drive the development and/or progression of certain cancers. However, ETV6 is also an anti-oncogene or tumor suppressor gene in that mutations in it that encode for a truncated and therefore inactive protein are also associated with certain types of cancers.