BCL11B
B-cell lymphoma/leukemia 11B
Also known as: BC11B_HUMAN, CTIP-2, CTIP2, hRIT1-alpha, SMARCM2, ZNF856B
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9C0K0
- Gene
- BCL11B
- Ensembl
- ENSG00000127152
- Chromosome
- 14
- Canonical length
- 894 aa
- Protein class
- Cancer-related genes, Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins, Transcription factors
- Subcellular location
- Nucleoplasm,Nucleoli fibrillar center
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
894 residues, UniProt reviewed canonical sequence.
>Q9C0K0|BCL11B
1 MSRRKQGNPQ HLSQRELITP EADHVEAAIL EEDEGLEIEE PSGLGLMVGG PDPDLLTCGQ
61 CQMNFPLGDI LVFIEHKRKQ CGGSLGACYD KALDKDSPPP SSRSELRKVS EPVEIGIQVT
121 PDEDDHLLSP TKGICPKQEN IAGPCRPAQL PAVAPIAASS HPHSSVITSP LRALGALPPC
181 LPLPCCSARP VSGDGTQGEG QTEAPFGCQC QLSGKDEPSS YICTTCKQPF NSAWFLLQHA
241 QNTHGFRIYL EPGPASSSLT PRLTIPPPLG PEAVAQSPLM NFLGDSNPFN LLRMTGPILR
301 DHPGFGEGRL PGTPPLFSPP PRHHLDPHRL SAEEMGLVAQ HPSAFDRVMR LNPMAIDSPA
361 MDFSRRLREL AGNSSTPPPV SPGRGNPMHR LLNPFQPSPK SPFLSTPPLP PMPPGGTPPP
421 QPPAKSKSCE FCGKTFKFQS NLIVHRRSHT GEKPYKCQLC DHACSQASKL KRHMKTHMHK
481 AGSLAGRSDD GLSAASSPEP GTSELAGEGL KAADGDFRHH ESDPSLGHEP EEEDEEEEEE
541 EEELLLENES RPESSFSMDS ELSRNRENGG GGVPGVPGAG GGAAKALADE KALVLGKVME
601 NVGLGALPQY GELLADKQKR GAFLKRAAGG GDAGDDDDAG GCGDAGAGGA VNGRGGGFAP
661 GTEPFPGLFP RKPAPLPSPG LNSAAKRIKV EKDLELPPAA LIPSENVYSQ WLVGYAASRH
721 FMKDPFLGFT DARQSPFATS SEHSSENGSL RFSTPPGDLL DGGLSGRSGT ASGGSTPHLG
781 GPGPGRPSSK EGRRSDTCEY CGKVFKNCSN LTVHRRSHTG ERPYKCELCN YACAQSSKLT
841 RHMKTHGQIG KEVYRCDICQ MPFSVYSTLE KHMKKWHGEH LLTNDVKIEQ AERSLocalizationUniProt · AlphaFold · HPA
Whether an antibody against BCL11B can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.65
- Highest tissue expression
- 34 nTPM
Expression across tissuesHPA
Tissue
- thymus: 34 nTPM
- skin: 14 nTPM
- basal ganglia: 12 nTPM
- lymph node: 9.5 nTPM
- tonsil: 7 nTPM
- appendix: 4.8 nTPM
Single-cell type
- t-cells: 675 nCPM
- thymocytes: 247 nCPM
- brain inhibitory neurons: 201 nCPM
- nk-cells: 151 nCPM
- basal keratinocytes: 133 nCPM
- suprabasal keratinocytes: 113 nCPM
Immune cell
- naive CD4 T-cell: 4.6 nTPM
- naive CD8 T-cell: 3.1 nTPM
- memory CD4 T-cell: 2.8 nTPM
- memory CD8 T-cell: 2.4 nTPM
- T-reg: 2.1 nTPM
- gdT-cell: 2 nTPM
Brain region
- basal ganglia: 49 nTPM
- hippocampal formation: 44 nTPM
- cerebral cortex: 40 nTPM
- amygdala: 22 nTPM
- white matter: 13 nTPM
- spinal cord: 7.3 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about BCL11B.
Disease | AllUniProt
Conditions BCL11B is implicated in, by any mechanism.
- Immunodeficiency 49, severe combined (IMD49) MIM:617237
- Intellectual developmental disorder with speech delay, dysmorphic facies, and T-cell abnormalities (IDDSFTA) MIM:618092
Disease | GeneticClinVar
68 pathogenic / likely-pathogenic of 947 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities
- Inborn genetic diseases
- BCL11B-related disorder
- Immunodeficiency 49
- See cases
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.28
- gnomAD pLI
- 0.99
- gnomAD missense Z
- 4.71
- DepMap mean gene effect
- 0.02
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- alpha-beta T cell differentiation
- commitment of neuronal cell to specific neuron type in forebrain
- epithelial cell morphogenesis
- hematopoietic stem cell migration
- keratinocyte development
- lymphoid lineage cell migration into thymus
- negative regulation of cell population proliferation
- negative regulation of thymocyte apoptotic process
- odontogenesis of dentin-containing tooth
- positive regulation of transcription by RNA polymerase II
- positive T cell selection
- post-embryonic camera-type eye development
- regulation of keratinocyte proliferation
- regulation of lipid metabolic process
- regulation of neuron differentiation
- striatal medium spiny neuron differentiation
- T cell differentiation in thymus
- T cell receptor V(D)J recombination
- thymocyte apoptotic process
- thymus development
- transcription by RNA polymerase II
- olfactory bulb axon guidance
Molecular functions
- DNA-binding transcription activator activity, RNA polymerase II-specific
- DNA-binding transcription factor activity
- RNA polymerase II cis-regulatory region sequence-specific DNA binding
- sequence-specific double-stranded DNA binding
- zinc ion binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of BCL11B in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads BCL11B as an antibody target. Whether an autoantibody or antibody against BCL11B could matter depends on whether native BCL11B is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
BCL11B is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label BCL11B as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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