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Aliases for BCL11B Gene

Aliases for BCL11B Gene

  • B-Cell CLL/Lymphoma 11B 2 3 4 5
  • Radiation-Induced Tumor Suppressor Gene 1 Protein 3 4
  • B-Cell CLL/Lymphoma 11B (Zinc Finger Protein) 2 3
  • COUP-TF-Interacting Protein 2 3 4
  • BCL-11B 3 4
  • CTIP2 3 4
  • HRit1 3 4
  • RIT1 3 4
  • B-Cell CLL/Lymphoma 11B/T-Cell Receptor Delta Constant Region Fusion Protein 3
  • Zinc Finger Protein HRit1 Alpha 3
  • B-Cell Lymphoma/Leukaemia 11B 3
  • B-Cell Lymphoma/Leukemia 11B 3
  • BCL11B/TRDC Fusion 3
  • HRIT1-Alpha 3
  • ATL1-Alpha 3
  • ATL1-Delta 3
  • ATL1-Gamma 3
  • ATL1-Beta 3
  • ZNF856B 3
  • CTIP-2 3
  • IMD49 3
  • ATL1 3

External Ids for BCL11B Gene

Previous HGNC Symbols for BCL11B Gene

  • ZNF856B

Previous GeneCards Identifiers for BCL11B Gene

  • GC14M097147
  • GC14M093451
  • GC14M097625
  • GC14M098705
  • GC14M099635
  • GC14M079819

Summaries for BCL11B Gene

Entrez Gene Summary for BCL11B 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]

GeneCards Summary for BCL11B Gene

BCL11B (B-Cell CLL/Lymphoma 11B) is a Protein Coding gene. Diseases associated with BCL11B include Immunodeficiency 49 and Combined T Cell And B Cell Immunodeficiency. Among its related pathways are Development and heterogeneity of the ILC family and Transcriptional misregulation in cancer. GO annotations related to this gene include nucleic acid binding and RNA polymerase II core promoter proximal region sequence-specific DNA binding. An important paralog of this gene is BCL11A.

UniProtKB/Swiss-Prot for BCL11B Gene

  • Key regulator of both differentiation and survival during thymocyte development in mammals. Essential in controlling the responsiveness of hematopoietic stem cells to chemotactic signals by modulating the expression of the receptors CCR7 and CCR9, which direct the movement of progenitor cells from the bone marrow to the thymus (PubMed:27959755). Tumor-suppressor that represses transcription through direct, TFCOUP2-independent binding to a GC-rich response element (By similarity). May also function in the P53-signaling pathway (By similarity).

Gene Wiki entry for BCL11B Gene

Additional gene information for BCL11B Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BCL11B Gene

Genomics for BCL11B Gene

Regulatory Elements for BCL11B Gene

Enhancers for BCL11B Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH14H099255 3 FANTOM5 Ensembl ENCODE dbSUPER 26 +6.4 6394 19 PKNOX1 SIN3A FEZF1 ZNF2 ZBTB7B ZNF207 ZNF143 DEK SP3 REST BCL11B RPL3P4 CCNK ENSG00000234648 ENSG00000235785
GH14H099239 1.7 FANTOM5 Ensembl ENCODE dbSUPER 33.5 +26.8 26769 11 KLF17 FEZF1 ZNF2 ETS1 ZNF121 ZNF366 ZSCAN5C FOS OVOL3 ZEB2 BCL11B DEGS2 GC14M099236 GC14M099237 ENSG00000235785
GH14H099251 2.5 FANTOM5 ENCODE dbSUPER 18 +18.4 18446 3 PKNOX1 KLF17 FEZF1 KLF7 ZNF391 EGR2 OVOL3 TSHZ1 ZEB2 ZNF398 BCL11B DEGS2 ENSG00000235785 GC14M099237 GC14M099236
GH14H099225 2.7 FANTOM5 Ensembl ENCODE dbSUPER 12.6 +40.4 40433 11 HDGF PKNOX1 INSM2 YBX1 FEZF1 BATF ZNF2 GLIS2 ZNF366 ZSCAN5C CCNK BCL11B ENSG00000234648 RPL3P4 SETD3 GC14M099236 GC14M099237 GC14P099215
GH14H099250 1 FANTOM5 dbSUPER 18 +20.8 20783 0 FEZF1 ZIC2 ZNF2 ZFP69B PRDM6 ZNF692 GLIS1 ZNF600 BCL11B ENSG00000235785 GC14M099237 GC14M099236
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around BCL11B on UCSC Golden Path with GeneCards custom track

Promoters for BCL11B Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000072928 812 3400 SIN3A FEZF1 ZNF2 GLIS2 ZNF143 YY2 CBX8 PRDM4 SP7 CTCF

Genomic Location for BCL11B Gene

Chromosome:
14
Start:
99,169,287 bp from pter
End:
99,271,713 bp from pter
Size:
102,427 bases
Orientation:
Minus strand

Genomic View for BCL11B Gene

Genes around BCL11B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BCL11B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BCL11B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BCL11B Gene

Proteins for BCL11B Gene

  • Protein details for BCL11B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9C0K0-BC11B_HUMAN
    Recommended name:
    B-cell lymphoma/leukemia 11B
    Protein Accession:
    Q9C0K0
    Secondary Accessions:
    • Q9H162

    Protein attributes for BCL11B Gene

    Size:
    894 amino acids
    Molecular mass:
    95519 Da
    Quaternary structure:
    • Homodimer (PubMed:27959755). Interacts with TFCOUP1, SIRT1, ARP1 and EAR2.

    Alternative splice isoforms for BCL11B Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for BCL11B Gene

Post-translational modifications for BCL11B Gene

  • Sumoylated with SUMO1.
  • Ubiquitination at posLast=585585, posLast=591591, Lys597, Lys617, posLast=686686, Lys790, Lys851, and Lys875
  • Modification sites at PhosphoSitePlus

Other Protein References for BCL11B Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for BCL11B (Bcl-11B)

No data available for DME Specific Peptides for BCL11B Gene

Domains & Families for BCL11B Gene

Gene Families for BCL11B Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Plasma proteins
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for BCL11B Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for BCL11B Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with BCL11B: view

No data available for UniProtKB/Swiss-Prot for BCL11B Gene

Function for BCL11B Gene

Molecular function for BCL11B Gene

UniProtKB/Swiss-Prot Function:
Key regulator of both differentiation and survival during thymocyte development in mammals. Essential in controlling the responsiveness of hematopoietic stem cells to chemotactic signals by modulating the expression of the receptors CCR7 and CCR9, which direct the movement of progenitor cells from the bone marrow to the thymus (PubMed:27959755). Tumor-suppressor that represses transcription through direct, TFCOUP2-independent binding to a GC-rich response element (By similarity). May also function in the P53-signaling pathway (By similarity).

Phenotypes From GWAS Catalog for BCL11B Gene

Gene Ontology (GO) - Molecular Function for BCL11B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding IEA --
GO:0001077 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding IBA --
GO:0003676 nucleic acid binding IEA --
GO:0005515 protein binding IPI 17245431
GO:0043565 sequence-specific DNA binding IBA --
genes like me logo Genes that share ontologies with BCL11B: view
genes like me logo Genes that share phenotypes with BCL11B: view

Animal Models for BCL11B Gene

MGI Knock Outs for BCL11B:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for BCL11B
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for BCL11B Gene

Localization for BCL11B Gene

Subcellular locations from UniProtKB/Swiss-Prot for BCL11B Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for BCL11B gene
Compartment Confidence
nucleus 5
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli fibrillar center (2)
  • Nucleus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for BCL11B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005634 nucleus IBA --
GO:0043005 neuron projection IEA --
genes like me logo Genes that share ontologies with BCL11B: view

Pathways & Interactions for BCL11B Gene

genes like me logo Genes that share pathways with BCL11B: view

Pathways by source for BCL11B Gene

1 Cell Signaling Technology pathway for BCL11B Gene
1 BioSystems pathway for BCL11B Gene
1 KEGG pathway for BCL11B Gene

SIGNOR curated interactions for BCL11B Gene

Is activated by:

Gene Ontology (GO) - Biological Process for BCL11B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003334 keratinocyte development IEA --
GO:0003382 epithelial cell morphogenesis IEA --
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006366 transcription from RNA polymerase II promoter IEA --
genes like me logo Genes that share ontologies with BCL11B: view

Drugs & Compounds for BCL11B Gene

No Compound Related Data Available

Transcripts for BCL11B Gene

Unigene Clusters for BCL11B Gene

B-cell CLL/lymphoma 11B (zinc finger protein):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for BCL11B
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for BCL11B Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4
SP1:
SP2: -

Relevant External Links for BCL11B Gene

GeneLoc Exon Structure for
BCL11B
ECgene alternative splicing isoforms for
BCL11B

Expression for BCL11B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for BCL11B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for BCL11B Gene

This gene is overexpressed in Brain - Nucleus accumbens (basal ganglia) (x6.6), Brain - Putamen (basal ganglia) (x5.8), Skin - Sun Exposed (Lower leg) (x5.6), Skin - Not Sun Exposed (Suprapubic) (x5.5), and Brain - Caudate (basal ganglia) (x5.3).

Protein differential expression in normal tissues from HIPED for BCL11B Gene

This gene is overexpressed in CD8 Tcells (19.7), Adipocyte (17.7), CD4 Tcells (8.9), Pancreatic juice (7.9), and Peripheral blood mononuclear cells (6.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for BCL11B Gene



Protein tissue co-expression partners for BCL11B Gene

NURSA nuclear receptor signaling pathways regulating expression of BCL11B Gene:

BCL11B

SOURCE GeneReport for Unigene cluster for BCL11B Gene:

Hs.709690

mRNA Expression by UniProt/SwissProt for BCL11B Gene:

Q9C0K0-BC11B_HUMAN
Tissue specificity: Highly expressed in brain and in malignant T-cell lines derived from patients with adult T-cell leukemia/lymphoma.

Evidence on tissue expression from TISSUES for BCL11B Gene

  • Liver(4)
  • Nervous system(2.2)
  • Blood(2.1)
genes like me logo Genes that share expression patterns with BCL11B: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for BCL11B Gene

Orthologs for BCL11B Gene

This gene was present in the common ancestor of animals.

Orthologs for BCL11B Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia BCL11B 33 34
  • 99.74 (n)
dog
(Canis familiaris)
Mammalia BCL11B 33 34
  • 96.31 (n)
cow
(Bos Taurus)
Mammalia BCL11B 33 34
  • 94.33 (n)
mouse
(Mus musculus)
Mammalia Bcl11b 33 16 34
  • 89.08 (n)
rat
(Rattus norvegicus)
Mammalia Bcl11b 33
  • 88.8 (n)
oppossum
(Monodelphis domestica)
Mammalia BCL11B 34
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia BCL11B 34
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves -- 34
  • 85 (a)
OneToMany
-- 34
  • 82 (a)
OneToMany
BCL11B 33
  • 76.66 (n)
lizard
(Anolis carolinensis)
Reptilia BCL11B 34
  • 85 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia bcl11b 33
  • 70.58 (n)
Str.12510 33
zebrafish
(Danio rerio)
Actinopterygii bcl11ba 34
  • 76 (a)
OneToMany
LOC100330974 33
  • 70.2 (n)
BCL11B (2 of 2) 34
  • 60 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG9650 35 34
  • 84 (a)
worm
(Caenorhabditis elegans)
Secernentea F13H6.1 35 34
  • 65 (a)
Species where no ortholog for BCL11B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for BCL11B Gene

ENSEMBL:
Gene Tree for BCL11B (if available)
TreeFam:
Gene Tree for BCL11B (if available)

Paralogs for BCL11B Gene

Paralogs for BCL11B Gene

genes like me logo Genes that share paralogs with BCL11B: view

Variants for BCL11B Gene

Sequence variations from dbSNP and Humsavar for BCL11B Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type
VAR_035554 A colorectal cancer sample
VAR_078423 Immunodeficiency 49 (IMD49) [MIM:617237]
rs750610248 Pathogenic 99,175,513(+) ATGAG(A/C/G)TTGCT reference, synonymous-codon
rs760277241 Benign 99,174,929(+) GTCGT(-/CGTCGC)CGTCG cds-indel
rs1000005471 -- 99,250,592(+) AATTC(A/C)TTAGC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for BCL11B Gene

Variant ID Type Subtype PubMed ID
dgv385n67 CNV gain 20364138
dgv386n67 CNV gain 20364138
dgv3879n54 CNV loss 21841781
dgv387n67 CNV gain 20364138
dgv3880n54 CNV gain+loss 21841781
dgv3881n54 CNV gain 21841781
dgv3882n54 CNV loss 21841781
dgv3883n54 CNV loss 21841781
dgv3884n54 CNV loss 21841781
esv23236 CNV loss 19812545
esv2658925 CNV deletion 23128226
esv2671501 CNV deletion 23128226
esv275067 CNV gain+loss 21479260
esv3552038 CNV deletion 23714750
esv3581404 CNV loss 25503493
esv3635480 CNV gain 21293372
nsv1071166 CNV deletion 25765185
nsv470666 CNV gain 18288195
nsv476798 CNV novel sequence insertion 20440878
nsv528741 CNV loss 19592680
nsv565706 CNV loss 21841781
nsv565707 CNV loss 21841781
nsv565708 CNV loss 21841781
nsv565709 CNV gain+loss 21841781
nsv565714 CNV loss 21841781
nsv827039 CNV gain 20364138
nsv827040 CNV gain 20364138
nsv827049 CNV gain 20364138
nsv832871 CNV gain 17160897
nsv832872 CNV loss 17160897

Variation tolerance for BCL11B Gene

Residual Variation Intolerance Score: 10.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.93; 19.31% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for BCL11B Gene

Human Gene Mutation Database (HGMD)
BCL11B
SNPedia medical, phenotypic, and genealogical associations of SNPs for
BCL11B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BCL11B Gene

Disorders for BCL11B Gene

MalaCards: The human disease database

(5) MalaCards diseases for BCL11B Gene - From: HGMD, OMIM, ClinVar, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
immunodeficiency 49
  • scid, t cell-negative, b cell-positive, nk cell-positive, with intellectual disability, spasticity, and craniofacial abnormalities
combined t cell and b cell immunodeficiency
  • combined immunodeficiency
lymphoma
  • lymphoid cancer
adult t-cell leukemia
  • adult t-cell leukemia/lymphoma
quadriplegia
  • tetraplegia
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

BC11B_HUMAN
  • Immunodeficiency 49 (IMD49) [MIM:617237]: A form of severe combined immunodeficiency characterized by severe T-cell lymphopenia, no detectable T-cell receptor excision circles, no naive helper CD4+ T-cells, and impaired T-cell proliferative response. In addition to primary immunodeficiency, affected individuals manifest multiple abnormal systemic features, including severe delayed psychomotor development, intellectual disability, spastic quadriplegia, and craniofacial abnormalities. {ECO:0000269 PubMed:27959755}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for BCL11B

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
BCL11B
genes like me logo Genes that share disorders with BCL11B: view

No data available for Genatlas for BCL11B Gene

Publications for BCL11B Gene

  1. Homozygous deletions and point mutations of the Rit1/Bcl11b gene in gamma-ray induced mouse thymic lymphomas. (PMID: 12565905) Wakabayashi Y … Kominami R (Biochemical and biophysical research communications 2003) 3 4 22 60
  2. The BCL11 gene family: involvement of BCL11A in lymphoid malignancies. (PMID: 11719382) Satterwhite E … Dyer MJ (Blood 2001) 2 3 4 60
  3. Multisystem Anomalies in Severe Combined Immunodeficiency with Mutant BCL11B. (PMID: 27959755) Punwani D … Puck JM (The New England journal of medicine 2016) 3 4 60
  4. Expression of COUP-TF-interacting protein 2 (CTIP2) in human atopic dermatitis and allergic contact dermatitis skin. (PMID: 19366371) Ganguli-Indra G … Indra AK (Experimental dermatology 2009) 3 22 60
  5. Functional roles for the striatal-enriched transcription factor, Bcl11b, in the control of striatal gene expression and transcriptional dysregulation in Huntington's disease. (PMID: 18595722) Desplats PA … Thomas EA (Neurobiology of disease 2008) 3 22 60

Products for BCL11B Gene

Sources for BCL11B Gene

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