ETV6 (ets variant 6)

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

t(9;12)(q34;p13) ETV6/ABL1

Review on t(9;12)(q34;p13) ETV6/ABL1, with data on clinics, and the genes implicated

t(3;12)(q26;p13) ETV6/MECOM - t(3;12)(q26;p13) ETV6/EVI1

Short communication on t(3;12)(q26;p13) ETV6/MECOM, with data on clinics, and the genes implicated

t(6;20)(q13;q12) LMBRD1/CHD6

Short communication on t t(6;20)(q13;q12) LMBRD1/CHD6, with data on clinics, and the genes implicated

t(20;21)(q13.2;q22.12) ZFP64/RUNX1

Review on t(20;21)(q13.2;q22.12) ZFP64/RUNX1, with data on clinics, and the genes involved

t(10;17)(p15;q21) ZMYND11/MBTD1

Short communication on on t(10;17)(p15;q21) ZMYND11/MBTD1, with data on clinics, and the genes implicated

inv(3)(q21q26)x2

Review on inv(3)(q21q26)x2, with data on clinics, and the genes involved

t(5;11)(q35;q12) NSD1/FEN1

Review on t(5;11)(q35;q12) NSD1/FEN1, with data on clinics, and the genes implicated

t(5;12)(p13;p13) NIPBL/ETV6

Review on t(5;12)(p13;p13) NIPBL/ETV6, with data on clinics, and the genes involved