ETV6 (ets variant 6)

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Title: ETV6 (ets variant 6)
Author: De, Braekeleer E; Douet-Guilbert, N; De, Braekeleer M
Description: 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.
Subject: Chromosome 12; TEL (alias); TEL1 (alias); Transcription factor; Genes Section
Publisher: Jean-Loup Huret (Editor-in-Chief) ; INIST-CNRS (Publisher)
Date: 2014

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