ETV6 (ets variant 6)

Braekeleer E De, N Douet-Guilbert, Braekeleer M De
2014 Atlas of Genetics and Cytogenetics in Oncology and Haematology  
The ETV6 gene located at band 12p13 encodes a protein containing two major domains, the HLH (helix-loop-helix) domain, encoded by exons 3 and 4, and the ETS domain, encoded by exons 6 through 8, with in between the internal domain encoded by exon 5. ETV6 is a strong transcriptional repressor, acting through its HLH and internal domains. Five potential mechanisms of ETV6mediated carcinogenesis have been identified: constitutive activation of the kinase activity of the partner protein,
more » ... protein, modification of the original functions of a transcription factor, loss of function of the fusion gene, affecting ETV6 and the partner gene, activation of a proto-oncogene in the vicinity of a chromosomal translocation and dominant negative effect of the fusion protein over transcriptional repression mediated by wild-type ETV6. Thirty-three ETV6 partner genes have been identified. Identity Other names: TEL, TEL1 HGNC (Hugo): ETV6 Location: 12p13.2 ETV6 (12p13.2) in normal cells: clone dJ852F10 -Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics. Schematic diagram of the ETV6 gene showing the 8 exons. Exon 1b is an alternative exon located in intron 2. Reprinted from Leukemia Research, vol 36, De Braekeleer E et al. ETV6 fusion genes in hematological malignancies: A review. Pages 945-961, 2012. With permission from Elsevier. ETV6 (ets variant 6) De Braekeleer E, et al. Fluorescence in situ hybridization analysis of t(3; 12)(q26; p13): a recurring chromosomal abnormality involving the TEL gene (ETV6) in myelodysplastic syndromes. Blood. 1996 Jul 15;88(2):682-9. ETV6 (ets variant 6) De Braekeleer E, et al.
doi:10.4267/2042/54367 fatcat:srwzsht2lbfwpkxoii7sf5en24