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Symbol BCL11A contributors: mct/pgu - updated : 27-05-2016
HGNC name B-cell CLL/lymphoma 11A (zinc finger protein)
HGNC id 13221
Corresponding disease
IDFH intellectual developmental disorder with persistence of fetal hemoglobin
Location 2p16.1      Physical location : 60.678.302 - 60.780.633
Synonym name
  • ecotropic viral integration site 9
  • zinc finger protein, C2H2 type, coded at ecotropic EVI integration site 9 homolog
  • B-cell CLL/lymphoma 11A
  • COUP-TF-interacting protein 1
  • C2H2-type zinc finger protein
  • zinc finger protein 856
  • Synonym symbol(s) EVI9, CTIP1, KIAA1809, NRG, BCL11A-S, BCL11A-XL, FLJ10173, FLJ34997, BCL11A-L, HBFQTL5, ZNF856
    TYPE functioning gene
    STRUCTURE 102.33 kb     5 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    text structure
  • presence of a conserved CACCC box in promoters 371 bp upstream of the transcriptional start site (position &
  • 8722;371)
    MAPPING cloned Y linked N status provisional
    Map pter - D2S370 - D2SE357 - BCL11A - D2S2198 - D2S2160 - cen
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    4 splicing 5946 91.1 835 developmentally restricted to adult erythroid cells 2008 19056937
  • isoform 1 or BCL11A-XL
  • with BCL11A-L differ only in usage of the 3' terminal exon and function similarly in other settings
  • 5 splicing 3958 83.7 773 is found in nuclear paraspeckles 2008 19056937
  • isoform 2 or BCL11A-L
  • with BCL11A-XL differ only in usage of the 3' terminal exon and function similarly in other settings
  • 5 splicing 2358 26.7 243 predominantly localized to the cytoplasm 2008 19056937
  • isoform 3 or BCL11A-S
  • present in cells that actively express gamma-globin and may participate in other aspects of transcriptional regulation within the beta-globin cluster
    Type widely
       expressed in (based on citations)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrineparathyroid   highly
    Lymphoid/Immunelymph node   highly
     spleen   highly
     thymus   highly
    Nervousbrain   highly
    Reproductivemale systemtestis  highly
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / hematopoieticbone marrow  highly Mus musculus
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoieticprogenitor cell Mus musculus
    Lymphoid/ImmuneB cell Mus musculus
    Lymphoid/ImmuneT cell Mus musculus
    cell lineage CD34-positive myeloid precursor cells
    cell lines
    at STAGE
    physiological period fetal
    Text brain
  • six C2H2 type zinc finger domains
  • a proline-rich region
  • a third zinc finger motif
  • an acidic domain
  • a signature motif (F/YSXXLXXL/Y) in the developmental regulator BCL11A that facilitates its selective interaction with members of the NR2E/F subfamily
  • conjugated PhosphoP
    interspecies homolog to murine Bcl11a (99.5pc)
    homolog to rattus Bcl11a (99.2pc)
    intraspecies homolog to BCL11B
    CATEGORY DNA associated , transcription factor , protooncogene
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,nucleoplasm,nuclear bodies,nuclear speckles
  • EVIA in the nucleus, colocalizing with BCL6
  • EVIC in the cytoplasm, colocalizing with BCL6
  • EVIA in the nucleus, colocalizing with BCL6
  • colocalizing with SUMO1 and SENP2 in nuclear speckles
  • basic FUNCTION
  • acting as a transcriptional repressor
  • involved in lymphoid malignancies through either chromosomal translocation or amplification
  • playing a direct role in globin gene regulation
  • might influence globin gene expression either directly by interacting with cis-regulatory elements within the beta-globin cluster or indirectly by affecting cell cycle or other pathways that ultimately impinge on HbF expression
  • may function as a modulator of the transcriptional repression activity of ARP1
  • functioning as a myeloid and B-cell proto-oncogene
  • central mediator of gamma-globin silencing and hemoglobin switching
  • repressor of gamma-globin gene expression in adult erythroid progenitors
  • is a critical component of a transcriptional network that regulates B cell fate by controlling V(D)J recombination
  • critical modulator of hemoglobin switching and HbF silencing
  • essential functions of BCL11A in neuronal morphogenesis and sensory wiring of the dorsal spinal cord and FRZB, a component of the WNT pathway, is a downstream acting molecule involved in this process
  • important role for the KLF1-BCL11A axis in erythroid maturation and developmental regulation of globin expression
  • transcription factor known to regulate lymphoid and erythroid developmen
  • MYB and BCL11A cooperate with DNMT1 to achieve developmental repression of embryonic and fetal beta-like globin genes in the adult erythroid environment
  • both BCL11A and MIPEP were associated with increased endogenous levels of HbF
  • CELLULAR PROCESS nucleotide, transcription
    a component
  • binding LCR, epsilon-globin and the intergenic regions between gamma-globin and delta-globin and reconfiguring the beta-globin cluster by modulating chromosomal loop formation
  • RNA
    small molecule
  • BCL6 for EVI9A (in monocytic differentiation and maintenance) and EVI9B
  • GATA1 specifically associates with BCL11A in erythroid cells
  • interacting with TFCOUP1, PIAS3, ARP1 and EAR2
  • interacting with SOX6 during erythroid maturation nad cooperating in silencing gamma-globin transcription in adult erythroid progenitors
  • interacting witrh KLF1 (KLF1 may control BCL11A expression by both direct and indirect mechanisms)
  • is a novel NR2E1 coregulator that might be involved in NR2E1-dependent gene regulation in the brain
  • is essential for lymphopoiesis and negatively regulates TP53 activities
  • KDM1A/RCOR1 histone demethylase complex interacts with BCL11A and is required for full developmental silencing of gamma-globin genes in adult erythroid cells
  • required for expression of I7 receptor (IL7RA) and FLT3 in early hematopoietic progenitor cells
  • KLF1 regulates BCL11A, a known repressor of adult gamma-globin expression
  • cell & other
    activated by KLF1 (BCL11A expression is activated by KLF1, leading to HBG1, HBG2 repression)
    Other sumoylated by SUMO1
    corresponding disease(s) IDFH
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral fusion      
    fused with REL in B cell lymphoma in t(2;14) (p13;q32.3)
    tumoral     --over  
    in leukemia through inhibition of monocyte differentiation
    constitutional     --low  
    in primary adult erythroid cells leads to robust HbF expression
    Susceptibility to persistance of fetal hemoglobin
    Variant & Polymorphism SNP , other
  • QTL influencing the risk of fetal hemoglobin
  • variants, by modulating HbF levels, act as an important ameliorating factor of the beta-thalassemia phenotype, and it is likely they could help ameliorate other hemoglobin disorders
  • polymorphisms or SNP associated with fetal hemoglobin levels and pain crises in sickle cell disease
  • Candidate gene
    Therapy target
    therapeutic target for reactivation of HbF in beta-hemoglobin disorders
  • Bcl11a haploinsufficiency in mice causes impaired cognition, abnormal social behavior, and microcephaly in accordance with the human phenotype