BCL11B Gene Summary [Human]
This gene encodes a C2H2-type zinc finger protein and is closely related to BCL11A, a gene whose translocation may be associated with B-cell malignancies. Although the specific function of this gene has not been determined, the encoded protein is known to be a transcriptional repressor, and is regulated by the NURD nucleosome remodeling and histone deacetylase complex. Four alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Aug 2013]
Details
| Type | Protein Coding |
| Official Symbol | BCL11B |
| Official Name | BAF chromatin remodeling complex subunit BCL11B [Source:HGNC Symbol;Acc:HGNC:13222] |
| Ensembl ID | ENSG00000127152 |
| Bio databases IDs | |
| Aliases | BAF chromatin remodeling complex subunit BCL11B |
| Synonyms | 9130430L19RIK, ATL1, ATL1-alpha, ATL1-beta, ATL1-delta, ATL1-gamma, ATL1-α, ATL1-β, ATL1-γ, ATL1-δ, B630002E05Rik, B cell leukaemia/lymphoma 11B, B cell leukemia/lymphoma 11B, BCL11 transcription factor B, CTIP-2, hRIT1-alpha, hRIT1-α, IDDFSTA, IMD49, RIT1, SMARCM2, ZNF856B |
| 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 BCL11B 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
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional activator activity
- zinc finger
- transcription regulator
- nucleic acid binding
- double-stranded DNA binding
- Zinc-finger double domain
- C2H2-type zinc-finger domain
- protein binding
- sequence-specific DNA binding
- MSRRKQ motif
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- immunodeficiency 49
- adult T cell leukemia
- intellectual developmental disorder with speech delay, dysmorphic facies and T-cell abnormalities
- schizophrenia
- precursor B-cell acute lymphoblastic leukemia
- Huntington disease
- metabolic syndrome X
- hypoplasia
- Burkitt lymphoma
role in cell
- proliferation
- cytostasis
- production in
- expression in
- induction in
- activation in
- apoptosis
- number
- survival
- colony formation
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
- neurites
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human BCL11B gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- T cell differentiation in thymus
- T cell receptor V(D)J recombination
- commitment of neuronal cell to specific neuron type in forebrain
- negative regulation of cell proliferation
- epithelial cell morphogenesis
- transcription from RNA polymerase II promoter
- odontogenesis of dentin-containing tooth
- alpha-beta T cell differentiation
- regulation of neuron differentiation
- positive regulation of transcription from RNA polymerase II promoter
- positive T cell selection
- striatal medium spiny neuron differentiation
- thymus development
- keratinocyte development
- negative regulation of thymocyte apoptotic process
- regulation of keratinocyte proliferation
- thymocyte apoptotic process
- hematopoietic stem cell migration
- olfactory bulb axon guidance
- post-embryonic camera-type eye development
- regulation of lipid metabolic process
Cellular Component
Where in the cell the gene product is active
- nucleus
- SWI/SNF complex
- neuron projection
Molecular Function
What the gene product does at the molecular level
- sequence-specific DNA binding transcription factor activity
- protein binding
- 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 positive regulation of transcription