Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



BCL11A Gene

protein-coding   GIFtS: 59
GCID: GC02M060678

B-Cell CLL/Lymphoma 11A (Zinc Finger Protein)

(Previous name: ecotropic viral integration site 9)
(Previous symbol: EVI9)
  See BCL11A-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

TryGeneCards Plus

Aliases
B-Cell CLL/Lymphoma 11A (Zinc Finger Protein)1 2     BCL11A-L2
EVI91 2 3 5     BCL11A-S2
CTIP12 3 5     BCL11A-XL2
Ecotropic Viral Integration Site 9 Protein Homolog2 3     BCL11a-M2
Zinc Finger Protein 8562 3     HBFQTL52
BCL-11A2 3     B-Cell CLL/Lymphoma 11A (Zinc Finger Protein) Isoform 22
EVI-92 3     B-Cell Lymphoma/Leukemia 11A2
ZNF8562 3     BCL11A B-Cell CLL/Lymphoma 11A (Zinc Finger Protein) Isoform 12
COUP-TF-Interacting Protein 12 3     C2H2-Type Zinc Finger Protein2
KIAA18093 5     Ecotropic Viral Integration Site 9 Homolog2
Ecotropic Viral Integration Site 91     B-Cell CLL/Lymphoma 11A3

External Ids:    HGNC: 132211   Entrez Gene: 533352   Ensembl: ENSG000001198667   OMIM: 6065575   UniProtKB: Q9H1653   

Export aliases for BCL11A gene to outside databases

Previous GC identifers: GC02M060806 GC02M060636 GC02M060652 GC02M060589 GC02M060531 GC02M060420


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

TryGeneCards Plus

Entrez Gene summary for BCL11A Gene:
This gene encodes a C2H2 type zinc-finger protein by its similarity to the mouse Bcl11a/Evi9 protein. The
corresponding mouse gene is a common site of retroviral integration in myeloid leukemia, and may function as a
leukemia disease gene, in part, through its interaction with BCL6. During hematopoietic cell differentiation,
this gene is down-regulated. It is possibly involved in lymphoma pathogenesis since translocations associated
with B-cell malignancies also deregulates its expression. Multiple transcript variants encoding several different
isoforms have been found for this gene. (provided by RefSeq, Jul 2008)

GeneCards Summary for BCL11A Gene:
BCL11A (B-cell CLL/lymphoma 11A (zinc finger protein)) is a protein-coding gene. Diseases associated with BCL11A include hypersomnia, and hereditary persistence of fetal hemoglobin. GO annotations related to this gene include protein homodimerization activity and nucleic acid binding. An important paralog of this gene is ZNF296.

UniProtKB/Swiss-Prot: BC11A_HUMAN, Q9H165
Function: Functions as a myeloid and B-cell proto-oncogene. May play important roles in leukemogenesis and
hematopoiesis. An essential factor in lymphopoiesis, is required for B-cell formation in fetal liver. May
function as a modulator of the transcriptional repression activity of ARP1 (By similarity)

Gene Wiki entry for BCL11A Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
About This Section

TryGeneCards Plus
RefSeq DNA sequence at NCBI GenBank:
NC_000002.11  NC_018913.2  NT_022184.16  
Regulatory elements:
   Regulatory transcription factor binding sites in the BCL11A gene promoter:
         CREB   AREB6   deltaCREB   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidBCL11A promoter sequence
   Search Chromatin IP Primers for BCL11A

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat BCL11A


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2p16.1   Ensembl cytogenetic band:  2p16.1   HGNC cytogenetic band: 2p16.1

BCL11A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
BCL11A gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M060678:  view genomic region     (about GC identifiers)

Start:
60,678,302 bp from pter      End:
60,780,702 bp from pter
Size:
102,401 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
About This Section

TryGeneCards Plus

UniProtKB/Swiss-Prot: BC11A_HUMAN, Q9H165 (See protein sequence)
Recommended Name: B-cell lymphoma/leukemia 11A  
Size: 835 amino acids; 91197 Da
Subunit: Interacts with TFCOUP1, PIAS3, ARP1 and EAR2 (By similarity)
Sequence caution: Sequence=BAB47438.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: D6W5D7 Q86W14 Q8WU92 Q96JL6 Q9H163 Q9H164 Q9H3G9 Q9NWA7
Alternative splicing: 6 isoforms:  Q9H165-1   Q9H165-2   Q9H165-3   Q9H165-4   Q9H165-5   Q9H165-6   

Explore the universe of human proteins at neXtProt for BCL11A: NX_Q9H165

Explore proteomics data for BCL11A at MOPED

Post-translational modifications: 

  • Sumoylated with SUMO1 (By similarity)1
  • Ubiquitination2 at Lys130, Lys749, Lys752, Lys771, Lys784
  • Modification sites at PhosphoSitePlus

  • See BCL11A Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_060484.2  NP_075044.2  NP_612569.1  

    ENSEMBL proteins: 
     ENSP00000349300   ENSP00000352648   ENSP00000338774   ENSP00000351307   ENSP00000438303  
     ENSP00000443712  

    BCL11A Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for BCL11A
    OriGene Protein Over-expression Lysate for BCL11A
    OriGene MassSpec for BCL11A
    OriGene Custom Protein Services for BCL11A
    GenScript Custom Purified and Recombinant Proteins Services for BCL11A
    Novus Biologicals BCL11A Proteins
    Novus Biologicals BCL11A Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for BCL11A 

    BCL11A Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of BCL11A
    Browse R&D Systems for Antibodies
    OriGene Antibodies for BCL11A
    OriGene Custom Antibody Services for BCL11A
    Novus Biologicals BCL11A Antibodies
    Abcam antibodies for BCL11A
    Browse Antibodies at Cloud-Clone Corp.
    ThermoFisher Antibodies for BCL11A
    LSBio Antibodies in human, mouse, rat for BCL11A

    BCL11A Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for BCL11A
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for BCL11A
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.
    Search eBioscience for ELISAs for BCL11A 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    TryGeneCards Plus
    HGNC Gene Families:
    ZNF: Zinc fingers, C2H2-type

    3 InterPro protein domains:
     IPR015880 Znf_C2H2-like
     IPR013087 Znf_C2H2/integrase_DNA-bd
     IPR007087 Znf_C2H2

    Graphical View of Domain Structure for InterPro Entry Q9H165

    ProtoNet protein and cluster: Q9H165

    UniProtKB/Swiss-Prot: BC11A_HUMAN, Q9H165
    Similarity: Contains 6 C2H2-type zinc fingers


    Find genes that share domains with BCL11A           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: BC11A_HUMAN, Q9H165
    Function: Functions as a myeloid and B-cell proto-oncogene. May play important roles in leukemogenesis and
    hematopoiesis. An essential factor in lymphopoiesis, is required for B-cell formation in fetal liver. May
    function as a modulator of the transcriptional repression activity of ARP1 (By similarity)

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003676nucleic acid binding IEA--
    GO:0003714transcription corepressor activity IEA--
    GO:0042803protein homodimerization activity TAS19616629
    GO:0046872metal ion binding IEA--
    GO:0046982protein heterodimerization activity IPI19616629
         
    Find genes that share ontologies with BCL11A           About GenesLikeMe


    Phenotypes:
         6 MGI mutant phenotypes (inferred from 8 alleles(MGI details for Bcl11a):
     cellular  hematopoietic system  homeostasis/metabolism  immune system  mortality/aging 
     nervous system 

    Find genes that share phenotypes with BCL11A           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for BCL11A: Bcl11atm1.1Pwt Bcl11atm1.1Sbri Bcl11atm1Ngc

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for BCL11A
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for BCL11A

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for BCL11A
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for BCL11A

    miRNA
    Products:
        
    miRTarBase miRNAs that target BCL11A:
    hsa-mir-32-5p (MIRT028335), hsa-mir-148b-3p (MIRT019481), hsa-mir-340-5p (MIRT019603), hsa-mir-29c-3p (MIRT020396), hsa-mir-196a-5p (MIRT026052)

    Block miRNA regulation of human, mouse, rat BCL11A using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate BCL11A (see all 257):
    hsa-miR-124* hsa-miR-140-5p hsa-miR-26a-2* hsa-miR-376b hsa-miR-146a hsa-miR-3162-5p hsa-miR-509-3-5p hsa-miR-761
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for BCL11A
    Predesigned siRNA for gene silencing in human, mouse, rat BCL11A

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for BCL11A

    Clone
    Products:
         
    OriGene clones in human, mouse for BCL11A (see all 17)
    OriGene ORF clones in mouse, rat for BCL11A
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): BCL11A (NM_138559)
    Sino Biological Human cDNA Clone for BCL11A
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for BCL11A
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BCL11A

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for BCL11A
    Browse ESI BIO Cell Lines and PureStem Progenitors for BCL11A 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BCL11A


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Subcellular locations from UniProtKB/Swiss-Prot
    BC11A_HUMAN, Q9H165: Cytoplasm. Nucleus. Note=Associates with the nuclear body. Colocalizes with SUMO1 and SENP2
    in nuclear speckles (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol2

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm ISS19616629

    Find genes that share ontologies with BCL11A           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
    About This Section

    TryGeneCards Plus




        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for BCL11A
    Interactions:

        GeneGlobe Interaction Network for BCL11A

    STRING Interaction Network Preview (showing 5 interactants - click image to see 19)

    Selected Interacting proteins for BCL11A (Q9H1653 ENSP000003387744) via UniProtKB, MINT, STRING, and/or I2D (see all 20)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NR2F1P105893, ENSP000003258194I2D: score=3 STRING: ENSP00000325819
    SIRT1Q96EB63, ENSP000002120154I2D: score=2 STRING: ENSP00000212015
    MBD3O959833, ENSP000001568254I2D: score=1 STRING: ENSP00000156825
    MTA1Q133303, ENSP000003336334I2D: score=1 STRING: ENSP00000333633
    MTA2O947763, ENSP000002788234I2D: score=1 STRING: ENSP00000278823
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 16):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-templated IEA--
    GO:0006355regulation of transcription, DNA-templated IEA--
    GO:0010629negative regulation of gene expression IEA--
    GO:0010976positive regulation of neuron projection development IDA19616629
    GO:0010977negative regulation of neuron projection development IDA19616629

    Find genes that share ontologies with BCL11A           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
    About This Section

    TryGeneCards Plus
    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for BCL11A (BC11A)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
    About This Section

    TryGeneCards Plus

    REFSEQ mRNAs for BCL11A gene (4 alternative transcripts): 
    NM_018014.3  NM_022893.3  NM_138559.1  NM_138553.1  

    Unigene Cluster for BCL11A:

    B-cell CLL/lymphoma 11A (zinc finger protein)
    Hs.370549  [show with all ESTs]
    Unigene Representative Sequence: NM_022893
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000356842(uc002sab.3 uc010ypi.2 uc010ypj.2) ENST00000359629(uc002sac.3)
    ENST00000489516 ENST00000479026 ENST00000492272 ENST00000335712(uc002sad.1 uc002sae.1 uc002saf.1)
    ENST00000477659 ENST00000358510 ENST00000409351(uc010fcg.3) ENST00000489183
    ENST00000538214 ENST00000537768
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat BCL11A using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate BCL11A (see all 257):
    hsa-miR-124* hsa-miR-140-5p hsa-miR-26a-2* hsa-miR-376b hsa-miR-146a hsa-miR-3162-5p hsa-miR-509-3-5p hsa-miR-761
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for BCL11A
    Predesigned siRNA for gene silencing in human, mouse, rat BCL11A
    Clone
    Products:
         
    OriGene clones in human, mouse for BCL11A (see all 17)
    OriGene ORF clones in mouse, rat for BCL11A
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): BCL11A (NM_138559)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for BCL11A
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BCL11A
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for BCL11A
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat BCL11A
      QuantiTect SYBR Green Assays in human, mouse, rat BCL11A
      QuantiFast Probe-based Assays in human, mouse, rat BCL11A

    Additional mRNA sequence: 

    AB058712.1 AF080216.1 AJ404611.1 AJ404612.1 AJ404613.1 AK001035.1 AK055251.1 AK092316.1 
    AK125704.1 AK297507.1 AK300012.1 AY228763.1 AY692278.1 BC021098.1 JN852960.1 

    12 DOTS entries:

    DT.212319  DT.95167625  DT.95167628  DT.92424772  DT.121001055  DT.99938343  DT.121001007  DT.121001038 
    DT.95144842  DT.95167630  DT.91685666  DT.99987995 

    Selected AceView cDNA sequences (see all 154):

    AW117338 BQ049681 AI290171 AI377305 BF223338 AA649007 NM_022893 AB058712 
    NM_018014 AW474162 BQ787276 NM_138559 AW204443 AA481615 AI290172 AA485053 
    AI968842 AA826038 AA504508 BM509827 AW339672 AA737027 AI769043 BE675599 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for BCL11A (see all 10)    About this scheme

    ExUns: 1 ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10a · 10b · 10c · 10d · 10e ^ 11a · 11b · 11c
    SP1:                                                        -                             -     -     -                     
    SP2:        -     -     -           -     -     -     -     -                             -     -     -                     
    SP3:        -     -     -           -     -     -     -     -                                                               
    SP4:                    -           -     -     -     -     -                                                               
    SP5:                    -           -     -     -     -     -     -     -                 -     -     -                     


    ECgene alternative splicing isoforms for BCL11A

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TryGeneCards Plus

    BCL11A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGTCCCCAAC
    BCL11A Expression
    About this image


    BCL11A expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 13) fully expand
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 5 entries
             Mononuclear Myocytes Hyoid Arch Muscles
     
     Endothelium (Cardiovascular System)    fully expand to see all 3 entries
             Extraembryonic Angioblasts Extraembryonic Capillary Plexus
     
     Blood (Cardiovascular System)    fully expand to see all 3 entries
             Mature B-Cells Peripheral Blood
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Endothelial Cells Blood Brain Barrier
     
     Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 2 entries
             Human embryonic stem cells (family)
    BCL11A Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    BCL11A Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.370549

    UniProtKB/Swiss-Prot: BC11A_HUMAN, Q9H165
    Tissue specificity: Expressed at high levels in brain, spleen thymus, bone marrow and testis. Expressed in
    CD34-positive myeloid precursor cells, B-cells, monocytes and megakaryocytes. Expression is tightly regulated
    during B-cell development

        Custom PCR Arrays for BCL11A
    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for BCL11A
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat BCL11A
    QuantiTect SYBR Green Assays in human, mouse, rat BCL11A
    QuantiFast Probe-based Assays in human, mouse, rat BCL11A
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BCL11A

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    TryGeneCards Plus

    This gene was present in the common ancestor of animals.

    Orthologs for BCL11A gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Bcl11a1 , 5 B cell CLL/lymphoma 11A (zinc finger protein)1, 5 96.65(n)1
    99.52(a)1
      11 (14.41 cM)5
    140251  NM_001242934.11  NP_001229863.11 
     240780565 
    chicken
    (Gallus gallus)
    Aves BCL11A1 B-cell CLL/lymphoma 11A (zinc finger protein) 86.89(n)
    96.11(a)
      421199  NM_001031031.1  NP_001026202.1 
    lizard
    (Anolis carolinensis)
    Reptilia BCL11A6
    B-cell CLL/lymphoma 11A (zinc finger protein)
    95(a)
    1 ↔ 1
    1(259069235-259071244)
    African clawed frog
    (Xenopus laevis)
    Amphibia BC060405.12   -- 83.53(n)    BC060405.1 
    zebrafish
    (Danio rerio)
    Actinopterygii bcl11aa1 B-cell CLL/lymphoma 11Aa 75.71(n)
    82.76(a)
      678650  NM_001040391.1  NP_001035481.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG96506
    --
    17(a)
    1 → many
    X(7031777-7135965)
    worm
    (Caenorhabditis elegans)
    Secernentea F13H6.16
    Protein F13H6.1, isoform b (F13H6.1) mRNA, complet...
    16(a)
    1 → many
    V(6356025-6362954) WBGene00017430


    ENSEMBL Gene Tree for BCL11A (if available)
    TreeFam Gene Tree for BCL11A (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

    TryGeneCards Plus
    Paralogs for BCL11A gene
    ZNF2962  BCL11B2  
    Selected SIMAP similar genes for BCL11A using alignment to 9 protein entries:     BC11A_HUMAN (see all proteins) (see all similar genes):
    ZFP64    BCL11B    ATL1-gamma    ATL1-delta    ATL1    ATL1-alpha
    KLF1    kr-znf3    ZNF697    A-328A3.4    ZFS-4    ZFS-5
    DKFZp686N0199    ZNF702P    ZNF78L1    ZNF    DKFZp686M04222    HZF16

    Find genes that share paralogs with BCL11A           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

    TryGeneCards Plus

    Polymorphic Variants from UniProtKB/Swiss-Prot
    BC11A_HUMAN, Q9H165: Genetic variation in BCL11A underlies the fetal hemoglobin quantitative trait locus 5 [MIM:142335].
    It is associated with quantitative variation in the production of F cells, that is erythrocytes containing
    measurable amounts of fetal hemoglobin (HbF). In healthy adults, HbF is present at residual levels (less than
    0.6% of total hemoglobin) with over twenty-fold variation. Ten to fifteen percent of adults in the upper tail of
    the distribution have HbF levels between 0.8% and 5.0%, a condition referred to as heterocellular hereditary
    persistence of fetal hemoglobin (hHPFH). Although these HbF levels are modest in otherwise healthy individuals,
    interaction of hHPFH with beta thalassemia or sickle cell disease can increase HbF output in these individuals to
    levels that are clinically beneficial


    Selected SNPs for BCL11A (see all 1704)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0355534
    A breast cancer sample4--see VAR_0355532 S F mis40--------
    rs1114910091,2
    C,F--60542783(-) ATCACC/TTTTCC 2 -- ds50011Minor allele frequency- T:0.00NS 372
    rs454398961,2
    C--60542805(+) TGCAAC/TCTCCC 2 -- ds50010--------
    rs130342311,2
    C,F,H--60542845(+) AGAGGC/AAACTC 2 -- ds500129Minor allele frequency- A:0.24NA NS EA WA CSA 2995
    rs101761141,2
    C,F--60542849(+) GCAACC/TCTGCA 2 -- ds50010--------
    rs1487913861,2
    --60542921(+) ATTTAC/TGACTT 2 -- ds50010--------
    rs755707451,2
    C,F--60543226(+) CATGCC/TAATTA 2 -- ut311Minor allele frequency- T:0.00NS 366
    rs1446524821,2
    --60543234(+) TTATTC/TGGCTA 2 -- ut310--------
    rs780724591,2
    --60543266(+) TCTAGC/ACAGAA 2 -- ut311Minor allele frequency- A:0.00NS 366
    rs1478669821,2
    --60543322(+) TGAATC/TTACAG 2 -- ut310--------

    HapMap Linkage Disequilibrium report for BCL11A (60678302 - 60780702 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10 variations for BCL11A:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2720126CNV Deletion23290073
    esv2544456CNV Deletion19546169
    esv2720125CNV Deletion23290073
    esv2720123CNV Deletion23290073
    esv2720124CNV Deletion23290073
    nsv9924CNV Loss18304495
    nsv519105CNV Loss19592680
    esv28277CNV Loss19812545
    nsv834204CNV Gain17160897
    esv28146CNV Gain19812545

    Human Gene Mutation Database (HGMD): BCL11A
    Locus Specific Mutation Databases (LSDB): BCL11A

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing BCL11A
    DNA2.0 Custom Variant and Variant Library Synthesis for BCL11A

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    TryGeneCards Plus
    OMIM gene information: 606557    OMIM disorders: --

    UniProtKB/Swiss-Prot: BC11A_HUMAN, Q9H165
  • Note=Chromosomal aberrations involving BCL11A may be a cause of lymphoid malignancies. Translocation
    t(2;14)(p13;q32.3) causes BCL11A deregulation and amplification

  • 5 diseases for BCL11A:    
    About MalaCards
    hypersomnia    hereditary persistence of fetal hemoglobin    hemoglobinopathy    beta thalassemia
    leukemia

    3 diseases from the University of Copenhagen DISEASES database for BCL11A:
    Thalassemia     Sickle cell anemia     Hemoglobinopathy

    Find genes that share disorders with BCL11A           About GenesLikeMe

    1 Novoseek inferred disease relationship for BCL11A gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    chromosomal aberrations 40.4 2 16704730 (1), 11986957 (1)

    Genetic Association Database (GAD): BCL11A
    Human Genome Epidemiology (HuGE) Navigator: BCL11A (26 documents)

    Export disorders for BCL11A gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    TryGeneCards Plus

    PubMed articles for BCL11A gene, integrated from 10 sources (see all 87):
    (articles sorted by number of sources associating them with BCL11A)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta-thalassemia. (PubMed id 18245381)1, 3, 4 Uda M....Cao A. (Proc. Natl. Acad. Sci. U.S.A. 2008)
    2. A QTL influencing F cell production maps to a gene encoding a zinc- finger protein on chromosome 2p15. (PubMed id 17767159)1, 2, 4 Menzel S.... Thein S.L. (Nat. Genet. 2007)
    3. The BCL11 gene family: involvement of BCL11A in lymphoid malignancies. (PubMed id 11719382)1, 2, 3 Satterwhite E.... Dyer M.J. (Blood 2001)
    4. Genetics of fetal hemoglobin in Tanzanian and British patients with sickle cell anemia. (PubMed id 21068433)1, 4 Makani J....Thein S.L. (Blood 2011)
    5. Genome-wide association study in German patients with attention deficit/hyperactivity disorder. (PubMed id 22012869)1, 4 Hinney A....Hebebrand J. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2011)
    6. Gene variants in the novel type 2 diabetes loci CDC123/CAMK1D, THADA, ADAMTS9, BCL11A, and MTNR1B affect different aspects of pancreatic beta-cell function. (PubMed id 19833888)1, 4 Simonis-Bik A.M....'t Hart L.M. (Diabetes 2010)
    7. A genome-wide association identified the common genetic variants influence disease severity in beta0-thalassemia/hemoglobin E. (PubMed id 20183929)1, 4 Nuinoon M....Fucharoen S. (Hum. Genet. 2010)
    8. The XmnI (G)gamma polymorphism influences hemoglobin F synthesis contrary to BCL11A and HBS1L-MYB SNPs in a cohort of 57 beta-thalassemia intermedia patients. (PubMed id 20472475)1, 4 Nguyen T.K....Francina A. (amp 2010)
    9. Lack of significant effects of the type 2 diabetes susceptibility loci JAZF1, CDC123/CAMK1D, NOTCH2, ADAMTS9, THADA, and TSPAN8/LGR5 on diabetes and quantitative metabolic traits. (PubMed id 19670153)1, 4 Schleinitz D....Stumvoll M. (Horm. Metab. Res. 2010)
    10. Fetal hemoglobin in sickle cell anemia: genome-wide association studies suggest a regulatory region in the 5' olfactory receptor gene cluster. (PubMed id 20018918)1, 4 Solovieff N....Steinberg M.H. (Blood 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

    TryGeneCards Plus
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

    TryGeneCards Plus
    Entrez Gene: 53335 HGNC: 13221 AceView: BCL11A Ensembl:ENSG00000119866 euGenes: HUgn53335
    ECgene: BCL11A H-InvDB: BCL11A

    (According to HUGE)
    About This Section

    TryGeneCards Plus
    HUGE: KIAA1809

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

    TryGeneCards Plus
    NameDescription
    PharmGKB entry for BCL11A Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for BCL11A Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

    TryGeneCards Plus
    Patent Information for BCL11A gene:
    Search GeneIP for patents involving BCL11A

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

    TryGeneCards Plus

     Browse Small Molecules at EMD Millipore
     EMD Millipore Mono- and Polyclonal Antibodies for the study of BCL11A
     Browse Purified and Recombinant Proteins at EMD Millipore
     Browse Kits and Assays available from EMD Millipore
     
     EMD Millipore genomic analysis products

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Enzyme Activity Assays/Reagents  
     Browse ELISpot/FluoroSpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Luminex Assays  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Recombinant/Natural Proteins   Browse Stem Cell Products  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     OriGene Antibodies for BCL11A   OriGene RNAi products in human, mouse, rat for BCL11A  
     Browse OriGene qPCR primer pairs and template standards   OriGene Protein Over-expression Lysate for BCL11A  
     OriGene MassSpec something-or-other for BCL11A   OriGene clones in human, mouse for BCL11A  
     OriGene qSTAR qPCR primer pairs in human, mouse for BCL11A   OriGene Purified Protein for BCL11A  
     OriGene ORF clones in mouse, rat for BCL11A   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for BCL11A   OriGene Custom Protein Services for BCL11A  

     
     
     Block miRNA regulation of human, mouse, rat BCL11A using miScript Target Protectors SeqTarget long-range PCR primers for resequencing BCL11A
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat BCL11A Predesigned siRNA for gene silencing in human, mouse, rat BCL11A
     QuantiFast Probe-based Assays in human, mouse, rat BCL11A QuantiTect SYBR Green Assays in human, mouse, rat BCL11A
     Custom PCR Arrays for BCL11A Search Chromatin IP Primers for BCL11A
     Pre-validated RT2 qPCR Primer Assay in human, mouse, rat BCL11A  GeneGlobe Interaction Network for BCL11A
     Regulatory tfbs in BCL11A promoter
     GenScript Custom Purified and Recombinant Proteins Services for BCL11A GenScript cDNA clones with any tag delivered in your preferred vector for BCL11A
     GenScript Custom Assay Services for BCL11A GenScript Custom overexpressing Cell Line Services for BCL11A
     CloneReady with Over 120,000 Genes  Gene Synthesis: Any Gene in Any Vector
     Vector-based siRNA and miRNA, Ready for Transfection Gene Mutant Library, Variants up to 10^11
     Plasmid Preparation Custom Peptide Services
     Search for Antibodies & Assays

     Search Tocris compounds for BCL11A (BC11A)
     Browse Sino Biological Proteins
     Browse Sino Biological Cell Lysates
     cDNA Clones for BCL11A
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

     Novus Tissue Slides
     BCL11A antibodies
     BCL11A proteins
     BCL11A lysates
     Antibodies for BCL11A
     See all of Abcam's Antibodies, Kits and Proteins for BCL11A
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins
     Browse Proteins at Cloud-Clone Corp.
     Browse Antibodies at Cloud-Clone Corp.
     Browse ELISAs at Cloud-Clone Corp.
     Browse CLIAs at Cloud-Clone Corp.



     Browse ESI BIO Cell Lines and PureStem Progenitors for BCL11A
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BCL11A
     Browse SwitchGear 3'UTR luciferase reporter plasmids for BCL11A
     SwitchGear Promoter luciferase reporter plasmids for BCL11A
     ThermoFisher Antibodies for BCL11A
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BCL11A
     inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for BCL11A
     inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for BCL11A
     LSBio Antibodies in human, mouse, rat for BCL11A
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
     Browse compounds at ApexBio
     Search Addgene for plasmids for BCL11A
      Search eBioscience for proteins for BCL11A
      Search eBioscience for elisas for BCL11A
      eBioscience FlowRNA Probe Sets
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014

    View Random Gene

    Category
    (GIFtS: )
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      BCL11A gene at Home site.
    Version: 3.12.212 17 Sep 2014
    hostname: 356980-web2.xennexinc.com index build: 128 solr: 1.4