ETV6是致癌基因，编码蛋白是ETS易位变异体6，其具有螺旋-环-螺旋结构域和ETS结构域。ETS家族是转录因子家族中最大的一个。ETS结构域通常与GGAA/T DNA序列结合，但也可参与蛋白-蛋白相互作用。ETV6对于造血干细胞是必需的，并且可以启动导致其产生的调节级联。涉及ETV6周围12p13的易位是血液系统恶性肿瘤中最常见的变异形式。ETV6具有大量的融合配偶体，并且通常通过修饰伴侣基因或靠近易位位点的原癌基因的活性或功能来促进肿瘤发生。在实体肿瘤中ETV6体细胞突变发生频率较低。ETV6胚系突变与白血病和纤维肉瘤相关。

ETV6 gene encodes ETS Translocation Variant 6, which has a helix-loop-helix domain and an ETS domain. The ETS family is one of the largest families of transcription factors. ETS domains typically bind to a GGAA/T DNA sequence, but can also be involved in protein-protein interactions. ETV6 is essential for hematopoietic stem cells and may initiate the regulatory cascade leading to their production. Translocations involving band 12p13 around ETV6 are one of the most commonly observed alterations in hematological malignancies. ETV6 has a large number of fusion partners and typically contributes to tumorigenesis by modifying the activity or function of the partner gene or a proto-oncogene close to a translocation site. Somatic mutations occur at a relatively low frequency in solid tumors. Germline ETV6 mutations contribute to hematologic malignancies including ALL.

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