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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

BCL11A Gene

protein-coding   GIFtS: 58
GCID: GC02M060678

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

(Previous name: ecotropic viral integration site 9)
(Previous symbol: EVI9)
Microbiology & Infectious Diseases Congress
  See 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

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

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 hereditary persistence of fetal hemoglobin, and sickle cell anemia. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NC_018913.2  NT_022184.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the BCL11A gene promoter:
         CREB   AREB6   deltaCREB   
         Other transcription factors

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

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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)
Subcellular location: Cytoplasm. Nucleus. Note=Associates with the nuclear body. Colocalizes with SUMO1 and SENP2
in nuclear speckles (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:

  • UniProtKB: Sumoylated with SUMO1 (By similarity)
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9H165

  • BCL11A Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    BCL11A Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_060484.2  NP_075044.2  NP_612569.1  

    ENSEMBL proteins: 
     ENSP00000349300   ENSP00000352648   ENSP00000338774   ENSP00000351307   ENSP00000438303  
     ENSP00000443712  

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    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus NAS--
    GO:0005737cytoplasm NAS--

    BCL11A for ontologies           About GeneDecksing



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


    BCL11A for domains           About GeneDecksing


    (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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003676nucleic acid binding IEA--
    GO:0003714transcription corepressor activity IEA--
    GO:0008270zinc ion binding ----
    GO:0042803protein homodimerization activity TAS19616629
    GO:0046872metal ion binding IEA--
         
    BCL11A for ontologies           About GeneDecksing


    Phenotypes:
         7 MGI mutant phenotypes (inferred from 8 alleles(MGI details for Bcl11a):
     cellular  hematopoietic system  homeostasis/metabolism  immune system  mortality/aging 
     nervous system  no phenotypic analysis 

    BCL11A for phenotypes           About GeneDecksing

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

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    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for BCL11A

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

    5/20 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): 5/16 biological process terms (GO ID links to tree view) (see all 16):    About this table

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

    BCL11A for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for BCL11A (BC11A)

    Search CenterWatch for drugs/clinical trials and news about 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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    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 

    24/154 AceView cDNA sequences (see all 154):

    AI290172 AI377305 AI769043 T07596 BQ049681 AW339672 AI560419 CK822639 
    NM_138559 AA737027 AW157755 AA826038 BF223338 AW204443 AA210742 AJ404613 
    AW163793 BQ775925 AA481615 BC021098 AY692278 AA485053 BG614711 AB058712 

    GeneLoc Exon Structure

    5/10 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    BCL11A expression in normal human tissues (normalized intensities)      BCL11A embryonic expression: see
    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 
     5/21 selected tissues (see all 21) fully expand
     
     Blood (Hematopoietic System)    fully expand to see all 8 entries
             Plasmacytoid Dendritic cells Peripheral Blood
             Bone Marrow CD105+ Cells   
             stem cells (umbilical cord cd34+)   
     
     Brain (Nervous System)    fully expand to see all 5 entries
             Adult Dopaminergic Neurons Ventral Tegmental Area
             superior temporal gyrus   
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 5 entries
             Mononuclear Myocytes Hyoid Arch Muscles
     
     Liver (Hepatobiliary System)    fully expand to see all 3 entries
             Hematopoietic Stem Cells Liver Bud
             Fetal Liver CD34+ Cells   
     
     Endothelium (Cardiovascular System)    fully expand to see all 2 entries
             Endothelial Cells Blood Brain Barrier

    See BCL11A Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for BCL11A

    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

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    In Situ
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    (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

    This gene was present in the common ancestor of animals.

    Orthologs for BCL11A gene from 7/15 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
    Uncharacterized 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 75.88(n)
    83.02(a)
      678650  NM_001040391.1  NP_001035481.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG96506
    --
    12(a)
    1 → many
    X(7031777-7135965)
    worm
    (Caenorhabditis elegans)
    Secernentea F13H6.16
    Protein F13H6.1, isoform b
    14(a)
    1 → many
    V(6356025-6362106)


    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
    Paralogs for BCL11A gene
    ZNF2962  BCL11B2  
    18/33 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

    BCL11A for paralogs           About GeneDecksing



    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    UniProtKB/Swiss-Prot: BC11A_HUMAN, Q9H165
    Polymorphism: 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


    10/1704 SNPs in BCL11A are shown (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
    SABiosciences Cancer Mutation 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, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    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

  • 18 diseases for BCL11A:    About MalaCards
    hereditary persistence of fetal hemoglobin    sickle cell anemia    b-cell lymphomas    hemoglobinopathy
    leukemia    myeloid leukemia    mediastinitis    thalassemia
    beta thalassemia    sickle cell disease    attention deficit hyperactivity disorder    acute lymphoblastic leukemia
    chronic lymphocytic leukemia    lymphoblastic leukemia    anemia    hodgkin's lymphoma
    mental retardation    neuronitis

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

    BCL11A for disorders           About GeneDecksing

    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

    PubMed articles for BCL11A gene, integrated from 9 sources (see all 84):
    (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-tha lassemia. (PubMed id 18245381)1, 3, 4 Uda M....Cao 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. (2007)
    3. The BCL11 gene family: involvement of BCL11A in lymphoid malignancies. (PubMed id 11719382)1, 2, 3 Satterwhite E.... Dyer M.J. (2001)
    4. Genome-wide association study in German patients with attention deficit/hyperactivity disorder. (PubMed id 22012869)1, 4 Hinney A....Hebebrand J. (2011)
    5. Gene variants in the novel type 2 diabetes loci CDC12 3/CAMK1D, THADA, ADAMTS9, BCL11A, and MTNR1B affect different aspects of pancre atic beta-cell function. (PubMed id 19833888)1, 4 Simonis-Bik A.M....'t Hart L.M. (2010)
    6. A genome-wide association identified the common genet ic variants influence disease severity in beta0-thalassemia/hemoglobin E. (PubMed id 20183929)1, 4 Nuinoon M....Fucharoen S. (2010)
    7. The XmnI (G)gamma polymorphism influences hemoglobin F synthesis contrary to BCL11A and HBS1L-MYB SNPs in a cohort of 57 beta-thalas semia intermedia patients. (PubMed id 20472475)1, 4 Nguyen T.K....Francina A. (2010)
    8. Genetics of fetal hemoglobin in Tanzanian and British patients with sickle cell anemia. (PubMed id 21068433)1, 4 Makani J....Thein S.L. (2010)
    9. Lack of significant effects of the type 2 diabetes su sceptibility 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. (2010)
    10. Fetal hemoglobin in sickle cell anemia: genome-wide a ssociation studies suggest a regulatory region in the 5' olfactory receptor gen e cluster. (PubMed id 20018918)1, 4 Solovieff N....Steinberg M.H. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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
    Entrez Gene: 53335 HGNC: 13221 AceView: BCL11A Ensembl:ENSG00000119866 euGenes: HUgn53335
    ECgene: BCL11A H-InvDB: BCL11A

    (According to HUGE)
    About This Section
    HUGE: KIAA1809

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



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    About This Section

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