该基因编码ETS家族转录因子。该基因的产物包含两个功能域:一个与自身和其他蛋白质相互作用的N端尖(PNT)域和一个C端DNA结合域。小鼠基因敲除研究表明,它是造血和维持血管网发育所必需的。已知该基因参与了大量与白血病和先天性纤维肉瘤相关的染色体重排。
This gene encodes an ETS family transcription factor. The product of this gene contains two functional domains: a N-terminal pointed (PNT) domain that is involved in protein-protein interactions with itself and other proteins, and a C-terminal DNA-binding domain. Gene knockout studies in mice suggest that it is required for hematopoiesis and maintenance of the developing vascular network. This gene is known to be involved in a large number of chromosomal rearrangements associated with leukemia and congenital fibrosarcoma.

基因名:ETV6
别名:TEL,TEL/ABL,THC5
基因ID:2120
Chromosome:
(GRCh37)
12 Start: 11802788 End: 12048336 Strand: 1
信号通路: 血管生成  基因组不稳定