BCL11A Gene Summary [Human]
This gene encodes a C2H2 type zinc-finger protein by its similarity to the mouse Bcl11a/Evi9 protein. The corresponding mouse gene is a common site of retroviral integration in myeloid leukemia, and may function as a leukemia disease gene, in part, through its interaction with BCL6. During hematopoietic cell differentiation, this gene is down-regulated. It is possibly involved in lymphoma pathogenesis since translocations associated with B-cell malignancies also deregulates its expression. Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | BCL11A |
| Official Name | BAF chromatin remodeling complex subunit BCL11A [Source:HGNC Symbol;Acc:HGNC:13221] |
| Ensembl ID | ENSG00000119866 |
| Bio databases IDs | |
| Aliases | BAF chromatin remodeling complex subunit BCL11A |
| Synonyms | 2810047E18Rik, BCL11 transcription factor A, CTIP1, D930021L15RIK, DILOS, EVI9, HBFQTL5, KIAA1809, LOC100503813, LOC124906011, mKIAA1809, SMARCM1, ZNF856 |
| 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 BCL11A often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Zinc finger, C2H2 type
- transcription regulator
- protein kinase binding
- nucleic acid binding
- C2H2-type zinc-finger domain
- transcription co-repressor
- transcription cofactor
- transcription factor binding
- protein binding
- sequence-specific DNA binding
- zinc finger
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional repressor activity
- double-stranded DNA binding
- Zinc-finger double domain
- protein homodimerization
- zinc finger domain
- protein heterodimerization
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- schizophrenia
- metastasis
- intellectual developmental disorder with persistence of fetal hemoglobin
- hypoplasia
- global developmental delay
- COVID-19
- squamous-cell carcinoma
- squamous cell cancer
- cerebellar hypoplasia or atrophy, epilepsy, and global developmental delay
- organismal death
role in cell
- expression in
- phosphorylation in
- apoptosis
- proliferation
- migration
- differentiation
- transformation
- production in
- invasion by
- 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
- Cytoplasm
- postsynaptic region
- cytosol
- nucleoplasm
- nuclear bodies
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human BCL11A gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- negative regulation of dendrite development
- negative regulation of transcription from RNA polymerase II promoter
- protein sumoylation
- negative regulation of branching morphogenesis of a nerve
- positive regulation of gene expression
- regulation of transcription from RNA polymerase II promoter
Cellular Component
Where in the cell the gene product is active
- SWI/SNF complex
- nucleus
- cytosol
- nuclear matrix
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- protein kinase binding
- sequence-specific DNA binding transcription factor activity
- metal ion binding
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription