Species Human Entrez 2120 | Human Mouse Ensembl ENSG00000139083 | |
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Aliases ETV6, TEL, TEL/ABL, THC5, ETS variant 6 External IDs OMIM: 600618 MGI: 109336 HomoloGene: 37560 GeneCards: ETV6 | ||
Transcription factor ETV6 is a protein that in humans is encoded by the ETV6 gene. ETV6 is an oncogene.
Contents
Function
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 the 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, congenital fibrosarcoma and more recently an unusual salivary tumor that has been termed "mammary analogue secretory carcinoma of salivary glands."
Interactions
ETV6 has been shown to interact with Grb2, FLI1 and HTATIP. It can form a fusion gene with ABL1 called ETV6/ABL1 (or TEL/ABL under the previous gene names).