Gene Symbol | ETV6 |
Entrez Gene ID | 2120 |
Full Name | ETS variant 6 |
Synonyms | TEL,TEL/ABL,THC5 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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. [provided by RefSeq, Sep 2008]. |
Disorder MIM: | |
Disorder Html: | Leukemia, acute myeloid, somatic, 601626 (3); Thrombocytopenia 5, 616216 (3) |