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FLASH GENE
Symbol BCL11B contributors: mct/shn - updated : 12-09-2017
HGNC name B-cell CLL/lymphoma 11B (zinc finger protein)
HGNC id 13222
Corresponding disease
IMD49 Immunodeficiency 49
Location 14q32.2      Physical location : 99.635.626 - 99.737.822
Synonym name
  • B-cell CLL/lymphoma 11B/T-cell receptor delta constant region fusion protein
  • B-cell lymphoma/leukaemia 11B
  • B-cell lymphoma/leukemia 11B
  • BCL-11B
  • BCL11B/TRDC fusion
  • COUP-TF-interacting protein 2
  • hRit1
  • radiation-induced tumor suppressor gene 1 protein
  • zinc finger protein hRit1 alpha
  • Synonym symbol(s) CTIP2, CTIP-2, RIT1, hRIT1-alpha, ZNF856B, ATL1, ATL1-alpha, ATL1-beta, ATL1-delta, ATL1-gamma, IMD49
    DNA
    TYPE functioning gene
    STRUCTURE 102.43 kb     4 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    cytosine-phosphate-guanine/HTF
    text structure
  • promoter-proximal and Major Peak sequences are cis-regulatory elements that interact over 850 kb to control expression of BCL11B in hematopoietic cells
  • MAPPING cloned Y linked N status provisional
    Map cen - D14S1019 - D14S267 - BCL11B - D14S250 - D14S78 - qter
    Physical map
    LOC388011 14 hypothetical gene supported by AK091668; BC043585; BX647564 FLJ25773 14q32.31 hypothetical protein FLJ25773 RPL3P4 14 ribosomal protein L3 pseudogene 4 BCL11B 14q32.31 B-cell CLL/lymphoma 11B (zinc finger protein) FLJ23027 14q32.32 hypothetical protein FLJ23027 CCNK 14q32 cyclin K C14orf136 14q32 chromosome 14 open reading frame 136 C14orf65 14q32.31 chromosome 14 open reading frame 65 LOC390506 14 similar to RIKEN cDNA E030025D05 gene KIAA1822 14q32 KIAA1822 CYP46A1 14q32.1 cytochrome P450, family 46, subfamily A, polypeptide 1 EML1 14q32 echinoderm microtubule associated protein like 1 LOC341965 14q32.32 similar to voltage-dependent anion channel 3 RPS2P3 14 ribosomal protein S2 pseudogene 3 EVL 14q32.32 Enah/Vasp-like C14orf66 14q32.32 chromosome 14 open reading frame 66 YY1 14q32.31-q32.32 YY1 transcription factor C14orf69 14q32.32 chromosome 14 open reading frame 69 C14orf68 14 chromosome 14 open reading frame 68 WARS 14q32.31 tryptophanyl-tRNA synthetase NDUFB3P4 14q NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3, 12kDa pseudogene 4 LOC388013 14 hypothetical gene supported by BX248767 MGC4645 14q32.32 hypothetical protein MGC4645 KIAA1446 14q32.32 brain-enriched guanylate kinase-associated protein LOC388014 14 LOC388014 DLK1 14q32 delta-like 1 homolog (Drosophila) MEG3 14q32 maternally expressed 3 LOC388015 14 similar to RTl1 LOC388016 14 LOC388016
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    3 splicing 7603 88.35 823 - 2008 18768194
    isoform 2
    4 splicing 7816 95.5 894 - 2008 18768194
    isoform 1
    3 - 7828 - 822 - 2008 18768194
    - - 8041 - 893 - 2008 18768194
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Lymphoid/Immunespleen   highly Homo sapiens
     thymus   highly Homo sapiens
    Nervousbrainlimbic systemhippocampusdentate gyrushighly Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoieticleukocyte
    Blood/Hematopoieticprogenitor cell Homo sapiens
    Lymphoid/ImmuneT cell Homo sapiens
    Reproductivespermatozoa Homo sapiens
    cell lineage in developing teeth ameloblast
    cell lines Ewing's sarcoma
    fluid/secretion sperm
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES acid
    STRUCTURE
    motifs/domains
  • six C2H2-type zinc fingers
  • proline-rich domain
  • acidic regions
  • conjugated MetalloP
    HOMOLOGY
    interspecies ortholog to Bcl11b, Mus musculus
    homolog to Drosophila CG9650
    ortholog to Bcl11b, Rattus norvegicus
    ortholog to BCL11B, Pan troglodytes
    intraspecies homolog to BCL1A
    Homologene
    FAMILY
  • BCL11 family
  • CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic,granule
    intracellular,nucleus
    text
  • expressed by postmitotic granule cells in the developing as well as adult dentate gyrus
  • basic FUNCTION
  • a key regulator of both differentiation and survival during thymocyte development
  • a transcriptional regulator important for lymphopoiesis and previously associated with hematopoietic malignancies
  • involved in regulation of transcription, DNA-dependent
  • transcription factor required for the formation of the corticospinal tract
  • participates in the control of the interleukin-2 gene expression following activation through T-cell receptor
  • implicated in the remedy for DNA replication stress and maintenance of genomic integrity
  • plays essential roles in developmental processes of the immune and central nervous systems and skin
  • plays a crucial role in thymopoiesis and has been associated with hematopoietic malignancies
  • general transcriptional repressor for all long terminal repeats
  • its inhibition leads to apoptosis of malignant but not normal mature T cells
  • plays a major role in the development of corticospinal motor neuron axonal projections to the spinal cord
  • functions as a critical regulator of epithelial cell fate and differentiation during tooth morphogenesis
  • necessary role for ameloblast formation, location, differentiation, and maintenance
  • enhances NF-KappaB activation through up-regulation of MAP3K8 gene expression in T-lymphocytes
  • recruited to the CDKN1A gene promoter, silenced CDKN1A gene transcription through interactions with histone deacetylases and methyltransferases
  • constitutive CDKN1A gene suppressor that cooperates with SUV39H1 and histone methylation to silence the CDKN1A gene transcription
  • key transcriptional regulator of CDKN1A gene expression
  • recruits a repressive chromatin-modifying enzymatic complex to the HIV-1 promoter, and has an indirect effect on the cell cycle progression through CDKN1A promoter repression
  • constitutive CDKN1A gene suppressor that cooperates with SUV39H1 and histone methylation to silence the CDKN1A gene transcription
  • is necessary for T lineage commitment and required both to repress natural killer cell-associated genes and to down-regulate a battery of stem cell or progenitor cell genes at the pivotal stage of commitment
  • checkpoint during T cell development is Bcl11b-dependent
  • is a haploinsufficient tumor suppressor that collaborates with all major T-ALL oncogenic lesions in human thymocyte transformation
  • zinc finger transcription factor expressed in postmitotic neurons, playing a critical role during postnatal development of the dentate gyrus
  • plays a critical role in T-cell differentiation and proliferation
  • is a T-cell specific gene in hematopoiesis that begins expression during T-lineage commitment and is required for this process
  • unique roles in specific T cell populations, suggesting that its functions depend on cell type and activation state of the cell
  • is a new factor in the differentiation of type 2 innate lymphoid cells (ILC2s)
  • is more than just a T-cell-only transcription factor and sustains mature type 2 innate lymphoid cells (ILC2s) genetic and functional programs and lineage fidelity
  • adult expression of BCL11B is essential for survival, differentiation and functional integration of adult-born granule cell neurons, and BCL11B is required for survival of pre-existing mature neurons
  • during early tooth development, the transcription factor B&
  • 8209;cell CLL/lymphoma 11B (BCL11B) participates in dental epithelial cell proliferation and differentiation
  • serves a potentially important role in the regulation of ameloblast differentiation and enamel matrix protein expression
  • acts as a central intrinsic regulator of mammary epithelial stem cell quiescence and exhaustion and is necessary for long-term maintenance of the mammary gland
  • is essential for T-lineage commitment, particularly the repression of NK and myeloid potentials, and the induction of T-lineage genes, during the initial stages of human T-cell differentiation
  • CELLULAR PROCESS nucleotide, transcription, regulation
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding,
  • Zn2+
  • protein
  • Tat and HP1
  • NuRD complex (may be involved in transcriptional repression of BCL11B target genes and contribute to the function of BCL11B within a neuronal context) on the promoter of CDKN1C
  • in microglial cells, binds the HIV-1 promoter through CDKN1A, and recruits histone deacetylase (HDAC) and histone methyltransferase (HMT) activities to promote heterochromatic environment and HIV-1 transcriptional silencing
  • associates with the p300 coactivator in CD4+ T cells
  • recruits histone deacetylase (HDAC)1 and HDAC2 to promote local histone H3 deacetylation at the HIV-1 promoter region
  • BCL11B is a major downstream effector of FEZF2 in regulating the extension of axons toward subcortical targets and can rescue the axonal phenotype of FEZF2 mutants
  • cooperates with SUV39H1 and HDACs to suppress endogenous and Vpr-induced CDKN1A gene expression
  • important novel regulatory pathway in hippocampal development, by linking transcriptional functions of BCL11B to DSP, a molecule known to act on cell adhesion
  • is a dynamic regulator of epidermal proliferation and differentiation by integrating EGFR and NOTCH1 signaling
  • BCL11B is a major modulator of CDK9 activity and controls CDK9 function in physiological and pathological conditions
  • BCL11B binds to the SP6 promoter, and regulates SP6 gene expression through direct binding to the SP6 second promoter region
  • complex feedback regulatory network may exist between BCL11B and MSX2
  • BCL11B effects overlap with TCF3-dependent effects
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) IMD49
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral   translocation    
    translocated with TLX3 in t(5,14)(q35;q32.2) in B cell acute lymphoblastic leukemia
    tumoral   translocation    
    t(2;14)(q34;q32) (fusion of BCL11B and IKZF2) in adult T-cell leukemia/lymphoma (ATLL)
    tumoral     --low  
    is a key event in the multistep progression of ATLL (adult T-cell leukemia/lymphoma) leukemogenesis
    Susceptibility
    Variant & Polymorphism
    Candidate gene
  • may be considered a new candidate for targeted gene therapy in T-cell malignancies
  • Marker
    Therapy target
    ANIMAL & CELL MODELS
  • profound apoptosis in the thymus of neonatal Bcl11b-/- mice and adult mice show a block at the CD4-CD8- double-negative stage of thymocyte development