Aliases for ETV6 Gene
External Ids for ETV6 Gene
Previous GeneCards Identifiers for ETV6 Gene
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]
GeneCards Summary for ETV6 Gene
ETV6 (ETS Variant Transcription Factor 6) is a Protein Coding gene. Diseases associated with ETV6 include Thrombocytopenia 5 and Thrombocytopenia. Among its related pathways are Hematopoietic Stem Cell Gene Regulation by GABP alpha/beta Complex and Transcriptional misregulation in cancer. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and RNA polymerase II proximal promoter sequence-specific DNA binding. An important paralog of this gene is ETV7.
UniProtKB/Swiss-Prot Summary for ETV6 Gene
Transcriptional repressor; binds to the DNA sequence 5'-CCGGAAGT-3'. Plays a role in hematopoiesis and malignant transformation.