Entrez gene ID | | 9139 |
Official gene symbol | | CBFA2T2 |
Full name | | core-binding factor, runt domain, alpha subunit 2; translocated to, 2 |
Aliases | | ,DKFZp313F2116,EHT,MTGR1,ZMYND3,p85, |
Gene summary | | In acute myeloid leukemia, especially in the M2 subtype, the t(8;21)(q22;q22) translocation is one of the most frequent karyotypic abnormalities. The translocation produces a chimeric gene made up of the 5'-region of the RUNX1 (AML1) gene fused to the 3'-region of the CBFA2T1 (MTG8) gene. The chimeric protein is thought to associate with the nuclear corepressor/histone deacetylase complex to block hematopoietic differentiation. The protein encoded by this gene binds to the AML1-MTG8 complex and may be important in promoting leukemogenesis. Several transcript variants are thought to exist for this gene, but the full-length natures of only three have been described. [provided by RefSeq] |
Location | | Chromosome: 20 Locus: 20q11 |
Gene position | | 32077928 - 32237837 Map Viewer |
Gene orientation | | plus |
Gene size | | 159910 bp |
Gene sequence |
| |
OMIM ID | | 603672 |
|