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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 Lymphoma and Adult T-Cell Leukemia. Among its related pathways are NF-kappaB Signaling. 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

  • Tumor-suppressor protein involved in T-cell lymphomas. May function on the P53-signaling pathway. May be a key regulator of both differentiation and survival during thymocyte development. Repress transcription through direct, TFCOUP2-independent binding to a GC-rich response element (By similarity).

Gene Wiki entry for BCL11B Gene

No data available for 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
GH14F099255 2.8 FANTOM5 Ensembl ENCODE 26 +6.4 6394 19.8 PKNOX1 ARID4B SIN3A FEZF1 ZNF2 ZNF143 ZNF207 DEK ZNF263 SP3 BCL11B RPL3P4 ENSG00000235785
GH14F099239 1.5 FANTOM5 Ensembl ENCODE 33.4 +26.8 26769 11.5 PKNOX1 KLF17 FEZF1 ZNF2 ZNF121 ZNF366 FOS EGR2 ZNF263 OVOL3 BCL11B DEGS2 GC14M099236 GC14M099237 ENSG00000235785
GH14F099251 2.2 FANTOM5 ENCODE 18 +18.4 18446 3.1 PKNOX1 KLF17 FEZF1 ZNF121 KLF7 ZNF391 EGR2 ZNF263 OVOL3 JUNB BCL11B DEGS2 ENSG00000235785 GC14M099236 GC14M099237
GH14F099225 2.5 FANTOM5 Ensembl ENCODE 12.6 +40.3 40333 11.6 HDGF PKNOX1 INSM2 YBX1 FEZF1 ZNF2 GLIS2 ZNF366 SCRT2 FOS RPL3P4 BCL11B SETD3 GC14M099236 GC14M099237 GC14P099215
GH14F099190 1.5 FANTOM5 Ensembl ENCODE 11 +79.8 79798 2.6 HDGF INSM2 KLF17 GLI4 ZNF2 RAD21 ZNF354C ZNF366 SCRT2 ZNF416 ENSG00000229402 ENSG00000258383 ENSG00000237342 ENSG00000258672 ENSG00000258560 ENSG00000259097 C14orf177 ENSG00000234648 RPL3P4 BCL11B
- 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
ENSR00000423525 1613 5801 ZNF133 SIN3A FEZF1 ZNF2 GLIS2 ZNF143 DEK YY2 ZHX2 REST

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:
    • 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 Lys 585, Lys 591, Lys 597, Lys 617, Lys 686, Lys 790, Lys 851, and Lys 875
  • 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

Protein Domains for BCL11B Gene

Suggested Antigen Peptide Sequences for BCL11B Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9C0K0

UniProtKB/Swiss-Prot:

BC11B_HUMAN :
  • Contains 6 C2H2-type zinc fingers.
Similarity:
  • Contains 6 C2H2-type zinc fingers.
genes like me logo Genes that share domains with BCL11B: view

Function for BCL11B Gene

Molecular function for BCL11B Gene

UniProtKB/Swiss-Prot Function:
Tumor-suppressor protein involved in T-cell lymphomas. May function on the P53-signaling pathway. May be a key regulator of both differentiation and survival during thymocyte development. Repress transcription through direct, TFCOUP2-independent binding to a GC-rich response element (By similarity).

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

Inhibitory RNA Products

Flow Cytometry Products

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

Gene Ontology (GO) - Cellular Components for BCL11B Gene

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

Pathways & Interactions for BCL11B Gene

SuperPathways for BCL11B Gene

SuperPathway Contained pathways
1 NF-kappaB Signaling
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

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

Transcripts for BCL11B Gene

Unigene Clusters for BCL11B Gene

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

Inhibitory RNA Products

Flow Cytometry Products

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 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.
genes like me logo Genes that share expression patterns with BCL11B: view

Primer Products

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 34 35
  • 99.74 (n)
dog
(Canis familiaris)
Mammalia BCL11B 34 35
  • 96.31 (n)
cow
(Bos Taurus)
Mammalia BCL11B 34 35
  • 94.33 (n)
mouse
(Mus musculus)
Mammalia Bcl11b 34 16 35
  • 89.08 (n)
rat
(Rattus norvegicus)
Mammalia Bcl11b 34
  • 88.8 (n)
oppossum
(Monodelphis domestica)
Mammalia BCL11B 35
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia BCL11B 35
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves -- 35
  • 85 (a)
OneToMany
-- 35
  • 82 (a)
OneToMany
BCL11B 34
  • 76.66 (n)
lizard
(Anolis carolinensis)
Reptilia BCL11B 35
  • 85 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia bcl11b 34
  • 70.58 (n)
Str.12510 34
zebrafish
(Danio rerio)
Actinopterygii bcl11ba 35
  • 76 (a)
OneToMany
LOC100330974 34
  • 70.2 (n)
BCL11B (2 of 2) 35
  • 60 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG9650 36 35
  • 84 (a)
worm
(Caenorhabditis elegans)
Secernentea F13H6.1 36 35
  • 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
rs750610248 Pathogenic 99,175,513(+) ATGAG(A/G)TTGCT reference, synonymous-codon
rs760277241 Benign 99,174,929(+) GTCGT(-/CGTCGC)CGTCG cds-indel
rs10129264 -- 99,237,631(+) TTTGG(C/T)TTGGG intron-variant
rs10129582 -- 99,238,090(+) CCTGC(A/G)CCCAC intron-variant

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

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

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

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

(2) MalaCards diseases for BCL11B Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
lymphoma
  • lymphoid cancer
adult t-cell leukemia
  • adult t-cell leukemia/lymphoma
- elite association - COSMIC cancer census association via MalaCards

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 UniProtKB/Swiss-Prot and 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. (Biochem. Biophys. Res. Commun. 2003) 3 4 22 64
  2. The BCL11 gene family: involvement of BCL11A in lymphoid malignancies. (PMID: 11719382) Satterwhite E. … Dyer M.J. (Blood 2001) 2 3 4 64
  3. Expression of COUP-TF-interacting protein 2 (CTIP2) in human atopic dermatitis and allergic contact dermatitis skin. (PMID: 19366371) Ganguli-Indra G. … Indra A.K. (Exp. Dermatol. 2009) 3 22 64
  4. 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 P.A. … Thomas E.A. (Neurobiol. Dis. 2008) 3 22 64
  5. Lack of Bcl11b tumor suppressor results in vulnerability to DNA replication stress and damages. (PMID: 17369851) Kamimura K. … Kominami R. (Oncogene 2007) 3 22 64

Products for BCL11B Gene

Sources for BCL11B Gene

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