CBFA2T3
Description
The CBFA2T3 (CBFA2/RUNX1 partner transcriptional co-repressor 3) is a protein-coding gene located on chromosome 16.
Protein CBFA2T3 (core-binding factor, runt domain, alpha subunit 2; translocated to, 3) is a protein that in humans is encoded by the CBFA2T3 gene. The t(16;21)(q24;q22) translocation is a rare but recurrent chromosomal abnormality associated with therapy-related myeloid malignancies. The translocation produces a chimeric gene made up of the 5'-region of the AML1 gene fused to the 3'-region of this gene. In addition, this gene is a putative breast tumor suppressor. Two transcript variants encoding different isoforms have been found for this gene, and a brefeldin A-sensitive association of RII-alpha protein with one of the isoforms has been demonstrated in the Golgi apparatus.
CBFA2T3 acts as a transcriptional corepressor, silencing gene expression by associating with DNA-binding transcription factors and recruiting other corepressors and histone-modifying enzymes. It can repress the expression of MMP7 in a ZBTB33-dependent manner. CBFA2T3 reduces the levels and stability of the transcription factor HIF1A by interacting with EGLN1 and promoting HIF1A prolyl hydroxylation-dependent ubiquitination and proteasomal degradation. This contributes to the inhibition of glycolysis and stimulation of mitochondrial respiration by downregulating the expression of glycolytic genes that are targets of HIF1A. CBFA2T3 regulates the proliferation and differentiation of erythroid progenitors by repressing the expression of TAL1 target genes, and plays a role in granulocyte differentiation.
CBFA2T3 is also known as ETO2, MTG16, MTGR2, RUNX1T3, ZMYND4.
