CBFA2T2 Gene Summary [Human]
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]
Details
| Type | Processed Transcript |
| Official Symbol | CBFA2T2 |
| Official Name | CBFA2/RUNX1 partner transcriptional co-repressor 2 [Source:HGNC Symbol;Acc:HGNC:1536] |
| Ensembl ID | ENSG00000078699 |
| Bio databases IDs | |
| Aliases | CBFA2/RUNX1 partner transcriptional co-repressor 2 |
| Synonyms | A430091M07, C330013D05RIK, CBFA2/RUNX1 partner transcriptional co-repressor 2, CBFA2/RUNX1 translocation partner 2, CBFA2T2H, EHT, MTGR1, p85, ZMYND3 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human CBFA2T2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- transcription regulator
- NHR2 domain like
- NHR1 homology to TAF
- MYND finger
- transcription co-repressor
- TAF homology
- protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- non-insulin-dependent diabetes mellitus
- benign prostatic hyperplasia
- small cell lung cancer
- medulloblastoma
- brain cancer
role in cell
- differentiation
- abnormal morphology
- development
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- nucleoplasm
- nucleoli
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human CBFA2T2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- negative regulation of transcription from RNA polymerase II promoter
- intestinal epithelial cell differentiation
- negative regulation of transcription, DNA-dependent
- transcription, DNA-dependent
- negative regulation of neuron projection development
- positive regulation of neuron projection development
- negative regulation of Notch signaling pathway
Cellular Component
Where in the cell the gene product is active
- nucleus
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- protein binding
- metal ion binding
- transcription corepressor activity