ETS variant transcription factor 6 (ETV6)

ETS variant transcription factor 6 (ETV6) is a member of the ETS transcription factor family that primarily acts as a transcriptional repressor, binding a consensus DNA sequence via its ETS domain. ETV6 regulates a diverse set of genes critical for hematopoietic development and maintenance, including the suppression of aberrant cell proliferation. Germline and somatic mutations in ETV6 disrupt its DNA binding, nuclear localization, and repressor function, leading to a loss of tumor suppressor activity and a predisposition to leukemia. ETV6 participates in numerous gene fusions (such as ETV6-RUNX1 and ETV6-PDGFRB), which alter gene expression profiles and drive malignant transformation, especially in childhood ALL. These fusion proteins can be therapeutically targeted by kinase inhibitors. Genetic lesions involving ETV6 are clinically significant markers of prognosis and guide treatment decisions in hematologic cancers[1][2][3][4][5].

Other names

Transcription factor ETV6TELTEL1ETS translocation variant 6ETS-related protein Tel1TEL oncogeneETV6-RUNX1 fusion proteinTEL/ABLTHC5ets variant gene 6

Drugs inhibit downstream signaling pathways of fusion proteins involving ETV6 (e.g., inhibition of constitutively active PDGFRB or ABL kinase in fusion-driven leukemia) Repression or modulation of aberrant gene transcription driven by ETV6 fusion proteins