CBFA2T3 Gene Summary [Human]
This gene encodes a member of the myeloid translocation gene family which interact with DNA-bound transcription factors and recruit a range of corepressors to facilitate transcriptional repression. The t(16;21)(q24;q22) translocation is one of the less common karyotypic abnormalities in acute myeloid leukemia. The translocation produces a chimeric gene made up of the 5'-region of the runt-related transcription factor 1 gene fused to the 3'-region of this gene. This gene is also a putative breast tumor suppressor. Alternative splicing results in transcript variants. [provided by RefSeq, Nov 2010]
Details
| Type | Protein Coding |
| Official Symbol | CBFA2T3 |
| Official Name | CBFA2/RUNX1 partner transcriptional co-repressor 3 [Source:HGNC Symbol;Acc:HGNC:1537] |
| Ensembl ID | ENSG00000129993 |
| Bio databases IDs | |
| Aliases | CBFA2/RUNX1 partner transcriptional co-repressor 3, myeloid translocation gene 8 and 16b |
| Synonyms | A630044F12Rik, AI465270, AW229127, CBFA2/RUNX1 partner transcriptional co-repressor 3, CBFA2/RUNX1 translocation partner 3, CBFA2T3H, ETO-2, MTG16, MTGR2, RUNX1T3, ZMYND4 |
| 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 CBFA2T3 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Nhr2 domain
- transcription regulator
- NHR2 domain like
- NHR1 homology to TAF
- MYND finger
- nervy homology region domain
- transcription co-repressor
- TAF homology
- chromatin binding
- protein binding
- zinc finger domain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- chronic lymphocytic leukemia
- neuroticism
- anemia
- insulin-dependent diabetes mellitus
- ulcerative colitis
- androgenic alopecia
- ophthalmic disorder
- colitis
- non-melanoma skin cancer
role in cell
- proliferation
- growth
- expression in
- quantity
- differentiation
- development
- cellular reprogramming
- recruitment in
- synthesis in
- abnormal morphology
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
- intracellular space
- Golgi Apparatus
- nucleoplasm
- nucleoli
- nuclear bodies
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human CBFA2T3 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- response to hypoxia
- negative regulation of transcription, DNA-dependent
- transcription, DNA-dependent
- negative regulation of cell proliferation
- negative regulation of glycolysis
- positive regulation of proteasomal ubiquitin-dependent protein catabolic process
- granulocyte differentiation
Cellular Component
Where in the cell the gene product is active
- nucleus
- Golgi membrane
- nucleolus
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- protein binding
- metal ion binding
- transcription corepressor activity