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. 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, Jul 2008]

Description

CBFA2/RUNX1 partner transcriptional co-repressor 2

Tissue specificity

Low tissue specificity

Subcell location

Nuclear speckles

Predicted location

Intracellular

Protein family

Disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)

Chromosome

20 (33490075 - 33650036)

Ensembl ID

ENSG00000078699  (ver. 103.38)

Orthologs

Mouse Cbfa2t2: ENSMUSG00000038533

UniProt

O43439

neXtProt

NX_O43439

Human splice variants
Mouse splice variants

Protein structure