CBFA2T2
Description
The CBFA2T2 (CBFA2/RUNX1 partner transcriptional co-repressor 2) is a protein-coding gene located on chromosome 20.
Protein CBFA2T2 is a protein that in humans is encoded by the CBFA2T2 gene. 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. CBFA2T2 has been shown to interact with RUNX1T1.
CBFA2T2 acts as a transcriptional corepressor, silencing gene expression by interacting with DNA-binding transcription factors and recruiting other corepressors and histone-modifying enzymes. This protein plays a crucial role in regulating embryonic stem cell pluripotency by associating with PRDM14. CBFA2T2 is also involved in the formation of primordial germ cells and stabilizes PRDM14 and OCT4 on chromatin. It can repress MMP7 expression in a ZBTB33-dependent manner. Additionally, CBFA2T2 may form a complex with the RUNX1/AML1-CBFA2T1/MTG8 fusion protein found in acute myeloid leukemia, potentially contributing to the repression of AML1-dependent transcription and promoting G-CSF/CSF3-dependent cell growth. CBFA2T2 might function as a tumor suppressor gene in myeloid tumors with deletions in the 20q11 region. Through interaction with CBFA2T3/MTG16, it may regulate the proliferation and differentiation of erythroid progenitors by repressing TAL1 target genes. CBFA2T2 is essential for maintaining the secretory cell lineage in the small intestine and can inhibit Notch signaling by interacting with RBPJ, potentially participating in GFI1-mediated Paneth cell differentiation.
CBFA2T2 is also known as EHT, MTGR1, ZMYND3, p85.
Associated Diseases
- male infertility with teratozoospermia due to single gene mutation
- partial chromosome Y deletion
- spinocerebellar ataxia type 32
- spermatogenic failure 63
- congenital bilateral absence of vas deferens
- spermatogenic failure 25
- isochromosomy Yp
- spermatogenic failures 50
