Core Binding Factor Alpha Subunit 2 Translocated To 2 (CBFa2T2)

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.

CBFA2T2 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.The putative EHT protein is approximately 65% identical to ETO/MTG8 and approximately 24% identical to an ETO Drosophila homolog, Nervy.