Cytogenetics Laboratory, Faculty of Medicine, University of Brest, France
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 ETV6-mediated carcinogenesis have been identified: constitutive activation of the kinase activity of the partner 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.
Etienne De Braekeleer ; Nathalie Douet-Guilbert ; Marc De Braekeleer
ETV6 (ets variant 6)
Atlas Genet Cytogenet Oncol Haematol. 2014-03-01
Online version: http://atlasgeneticsoncology.org/gene/38/etv6-(ets-variant-6)
2005-06-01 ETV6 (ets variant 6) by Stevan Knezevich
1999-12-01 ETV6 (ets variant 6) by Serge Pierrick Romana