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

BCL11A Gene

protein-coding   GIFtS: 55
GCID: GC02M060678

B-cell CLL/lymphoma 11A (zinc finger protein)

(Previous name: ecotropic viral integration site 9 )
(Previous symbol: EVI9)
 Explore 19 diseases affiliated with
BCL11A via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for BCL11A    

Aliases
for BCL11A gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
B-Cell CLL/Lymphoma 11A (Zinc Finger Protein)1 2     EVI-92 3
CTIP11 2 3 5     COUP-TF-Interacting Protein 12 3
EVI91 2 3 5     KIAA18093 5
ZNF8561 2 3     Ecotropic Viral Integration Site 91
BCL11A-L1 2     BCL11a-M2
BCL11A-S1 2     B-Cell CLL/Lymphoma 11A (Zinc Finger Protein) Isoform 22
BCL11A-XL1 2     B-Cell Lymphoma/Leukemia 11A2
HBFQTL51 2     BCL11A B-Cell CLL/Lymphoma 11A (Zinc Finger Protein) Isoform 12
Ecotropic Viral Integration Site 9 Protein Homolog2 3     C2H2-Type Zinc Finger Protein2
Zinc Finger Protein 8562 3     Ecotropic Viral Integration Site 9 Homolog2
BCL-11A2 3     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


Summaries
for BCL11A gene

(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:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NC_018913.1  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 plasmid: BCL11A 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

Proteins
for BCL11A gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Post-translational modifications:

  • Sumoylated with SUMO1 (By similarity)1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9H165

    • BCL11A Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    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 Uscn

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005634nucleus NAS--
    GO:0005737cytoplasm NAS--
    GO:0016604nuclear body ----


    BCL11A for ontologies           About GeneDecksing



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    Protein Domains /
    Families
    for BCL11A gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    BCL11A for domains           About GeneDecksing

    3 InterPro domains/families:
     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


    Function
    for BCL11A gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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)

    miRNA
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    Gene Editing
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    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:0005515protein binding ----
    GO:0008270zinc ion binding IEA--
    GO:0042803protein homodimerization activity TAS19616629


    BCL11A for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-outs for BCL11A: Bcl11atm1.1Pwt Bcl11atm1.1Sbri Bcl11atm1Ngc
         6 MGI mutant phenotypes (inferred from 5 alleles) (MGI details for Bcl11a):
     cellular  hematopoietic system  immune system  mortality/aging  nervous system 
     no phenotypic analysis 

    BCL11A for phenotypes           About GeneDecksing


    Pathways & Interactions
    for BCL11A gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 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



    Drugs & Compounds
    for BCL11A gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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
    Search CenterWatch for drugs/clinical trials and news about BCL11A / BC11A 

    Transcripts
    for BCL11A gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, 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

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    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
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    Additional cDNA 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):

    NM_138553 AI377305 AI769043 AB058712 CA313674 CK822639 AA504508 AA746479 
    AI560419 AY228763 AI680646 BG614711 BE047462 AW204856 AW117338 AA826038 
    BX092009 CA433144 BQ775925 AI971775 T07596 NM_018014 AJ404613 AA210742 

    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

    Expression
    for BCL11A gene

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AGTCCCCAAC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    BCL11A expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    6 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    BrainBlood Brain BarrierEndothelial CellsBlood Brain Barrier, Endothelium
    Extraembryonic MesodermExtraembryonic Capillary PlexusExtraembryonic AngioblastsEndothelium
    LimbForelimb MyotomeLimb Muscle Progenitor CellsSkeletal Muscle
    LimbZeugopodMesenchymal Condensate CellsBone, Cartilage
    Spinal CordSpinal Dorsal ColumnsDorsal Spinal Cord Progenitor CellsSpinal Cord
    Spinal CordSpinal Dorsal ColumnsSpinal Cord
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 3 LifeMap Cells 
    NameCategory
    PureStem™ mesenchymal Progenitor SK11 (Embryonic Progenitor Cell)Adipose, Bone, Cartilage
    PureStem™ progenitor EN2 (Embryonic Progenitor Cell)
    Matrigel embedded cells (Derivation of cardio...)

    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
    Assay Products:     
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    Orthologs
    for BCL11A gene

    (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 6/18 species (see all 18)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    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
    		 --
    		 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
    		 --
    		 19(a)
    		 1 → many
    		 X(7031777-7135965)
    worm
    (Caenorhabditis elegans)    		 Secernentea F13H6.16
    		 --
    		 18(a)
    		 1 → many
    		 V(6356008-6362089)


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

    Paralogs
    for BCL11A gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for BCL11A gene
    ZNF2962  BCL11B2  
    18/31 SIMAP similar genes for BCL11A using alignment to 9 protein entries:     BC11A_HUMAN (see all proteins) (see all similar genes):
    ZFP64    BCL11B    KLF1    kr-znf3    ZNF697    A-328A3.4
    ZFS-4    ZFS-5    DKFZp686N0199    ZNF702P    ZNF78L1    ZNF
    DKFZp686M04222    HZF16    PLZF    ZNF672    ZFS-2    ZNF72

    BCL11A for paralogs           About GeneDecksing



    Genomic Variants
    for BCL11A gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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


    10/1585 NCBI SNPs in BCL11A are shown (see all 1585)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 2 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs283664551,2
    		C,F,--60487290(+) GTCAAC/TATCTG 1 -- ds50018Minor allele frequency- T:0.31WA NA CSA EA 368
    rs601792371,2
    		--60487366(+) TACCAG/ATGTGT 1 -- ds50011Minor allele frequency- A:0.01WA 118
    rs747218851,2
    		F,--60487960(+) TCAAGG/ATGGGT 1 -- nc-transcript-variant1Minor allele frequency- A:0.02WA 118
    rs1169407781,2
    		C,F,--60489025(+) AATCAT/CGTCAC 1 -- int11Minor allele frequency- C:0.03EA 120
    rs454441931,2
    		C--60489447(+) AGTGAA/GTATAA 1 -- int10--------
    rs67471561,2
    		C,F,H,--60489569(+) ATTCGC/AATTCC 1 -- int113Minor allele frequency- A:0.34NS EA NA WA CSA 648
    rs67087671,2
    		C,H,--60490197(+) TTACAT/CTTCTA 1 -- int14Minor allele frequency- C:0.00NS EA 392
    rs1159174011,2
    		C,F,--60490393(+) CCAGAG/AGGACC 1 -- int11Minor allele frequency- A:0.03WA 118
    rs455477341,2
    		C,--60490437(+) TGTGAC/TGTGGT 1 -- int10--------
    rs777318961,2
    		C,--60490518(+) CTGCAC/TGAAGC 1 -- int12Minor allele frequency- T:0.06NA 122

    HapMap Linkage Disequilibrium report for BCL11A (60678302 - 60780702 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 13 variations for BCL11A
         13 CNVs: 78570 73805 78569 73780 78567 32310 97868 78566 2386 3361 89679 8373 78568
    Human Gene Mutation Database (HGMD): BCL11A

    Locus Specific Mutation Databases (LSDB): BCL11A

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing BCL11A
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    Disorders / Diseases
    for BCL11A gene

    (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
    BCL11A for disorders           About GeneDecksing

    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

    19 diseases for BCL11A:    About MalaCards
    leukemia    b-cell lymphomas    heterocellular hereditary persistence of fetal hemoglobin    hereditary persistence of fetal hemoglobin
    myeloid leukemia    beta thalassemia    sickle cell anemia    sickle cell disease
    acute lymphoblastic leukemia    chronic lymphocytic leukemia    lymphoblastic leukemia    hemoglobinopathy
    lymphocytic leukemia    thalassemia    hodgkin's lymphoma    mediastinitis
    anemia    hematopoiesis    neuronitis

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

    1 Novoseek 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)

    Human Genome Epidemiology (HuGE) Navigator: BCL11A (26 documents)

    Export disorders for BCL11A gene to outside databases

    Publications
    for BCL11A gene

    (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 68):
    (articles sorted by number of sources associating them with BCL11A)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. The BCL11 gene family: involvement of BCL11A in lymphoid malignancies. (PubMed id 11719382)1, 2, 3 Satterwhite E.... Dyer M.J. (2001)
    2. 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 Uda M....Cao A. (2008)
    3. A QTL influencing F cell production maps to a gene encoding a zinc- finger protein on chromosome 2p15. (PubMed id 17767159)1, 2 Menzel S.... Thein S.L. (2007)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    6. Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 11347906)1, 2 Nagase T.... Ohara O. (2001)
    7. Human EVI9, a homologue of the mouse myeloid leukemia gene, is expressed in the hematopoietic progenitors and down-regulated during myeloid differentiation of HL60 cells. (PubMed id 11161790)1, 2 Saiki Y.... Nakamura T. (2000)
    8. BCL11A is a SUMOylated protein and recruits SUMO-conjugation enzymes in its nuclear body. (PubMed id 18681895)1, 9 Kuwata T. and Nakamura T. (2008)
    9. Evi9 encodes a novel zinc finger protein that physically interacts with BCL6, a known human B-cell proto-oncogene product. (PubMed id 10757802)1, 9 Nakamura T....Copeland N.G. (2000)
    10. Functional studies of BCL11A: characterization of the conserved BCL11A-XL splice variant and its interaction with BCL6 in nuclear paraspeckles of germinal center B cells. (PubMed id 16704730)1, 9 Liu H....Tucker P.W. (2006)

    External Searches for BCL11A gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
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    Genome Databases showing BCL11A gene

    (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

    Other Databases showing BCL11A gene

    (According to HUGE)
    About This Section
    HUGE: KIAA1809

    Specialized Databases showing BCL11A gene

    (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

    Intellectual Property
    for BCL11A gene

    (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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