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    BCL11A B-cell CLL/lymphoma 11A [ Homo sapiens (human) ]

    Gene ID: 53335, updated on 1-Dec-2016
    Official Symbol
    BCL11Aprovided by HGNC
    Official Full Name
    B-cell CLL/lymphoma 11Aprovided by HGNC
    Primary source
    HGNC:HGNC:13221
    See related
    Ensembl:ENSG00000119866 HPRD:05949; MIM:606557; Vega:OTTHUMG00000129420
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    EVI9; CTIP1; DILOS; ZNF856; HBFQTL5; BCL11A-L; BCL11A-S; BCL11a-M; BCL11A-XL
    Summary
    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]
    Orthologs
    Location:
    2p16.1
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 2 NC_000002.12 (60451167..60553498, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (60678302..60780633, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene MIR4432 host gene Neighboring gene uncharacterized LOC102724142 Neighboring gene microRNA 4432 Neighboring gene uncharacterized LOC107985887 Neighboring gene RNA, 7SL, cytoplasmic 361, pseudogene Neighboring gene interferon induced transmembrane protein 3 pseudogene

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN
    MedGen: CN238097 OMIM: 617101 GeneReviews: Not available
    not available

    NHGRI GWAS Catalog

    Description
    A genome-wide association identified the common genetic variants influence disease severity in beta0-thalassemia/hemoglobin E.
    NHGRI GWA Catalog
    A QTL influencing F cell production maps to a gene encoding a zinc-finger protein on chromosome 2p15.
    NHGRI GWA Catalog
    Fetal hemoglobin in sickle cell anemia: genome-wide association studies suggest a regulatory region in the 5' olfactory receptor gene cluster.
    NHGRI GWA Catalog
    Genetic and clinical correlates of early-outgrowth colony-forming units.
    NHGRI GWA Catalog
    Genetic determinants of haemolysis in sickle cell anaemia.
    NHGRI GWA Catalog
    Genome wide association study of fetal hemoglobin in sickle cell anemia in Tanzania.
    NHGRI GWA Catalog
    Genome-wide association study identifies genetic variants influencing F-cell levels in sickle-cell patients.
    NHGRI GWA Catalog
    Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris.
    NHGRI GWA Catalog
    Genome-wide association study in German patients with attention deficit/hyperactivity disorder.
    NHGRI GWA Catalog
    Genome-wide association study of HLA-DQB1*06:02 negative essential hypersomnia.
    NHGRI GWA Catalog
    Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta-thalassemia.
    NHGRI GWA Catalog
    Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.
    NHGRI GWA Catalog
    Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.
    NHGRI GWA Catalog
    Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.
    NHGRI GWA Catalog
    Seventy-five genetic loci influencing the human red blood cell.
    NHGRI GWA Catalog
    The Genetics of Hemoglobin A2 Regulation in Sickle Cell Anemia.
    NHGRI GWA Catalog
    Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis.
    NHGRI GWA Catalog

    Replication interactions

    Interaction Pubs
    Knockdown of B-cell CLL/lymphoma 11A (zinc finger protein, BCL11A) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1 PubMed

    Go to the HIV-1, Human Interaction Database

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ10173, FLJ34997, KIAA1809

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    cellular response to L-glutamate IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of branching morphogenesis of a nerve IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of dendrite development IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of dendrite extension IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of neuron remodeling IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of transcription from RNA polymerase II promoter IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of gene expression IEA
    Inferred from Electronic Annotation
    more info
     
    protein sumoylation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    transcription, DNA-templated IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    postsynaptic density IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    B-cell lymphoma/leukemia 11A
    Names
    B-cell CLL/lymphoma 11A (zinc finger protein) isoform 2
    BCL-11A
    BCL11A B-cell CLL/lymphoma 11A (zinc finger protein) isoform 1
    C2H2-type zinc finger protein
    COUP-TF-interacting protein 1
    EVI-9
    ecotropic viral integration site 9 homolog
    ecotropic viral integration site 9 protein homolog
    zinc finger protein 856

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_011968.1 RefSeqGene

      Range
      5001..107332
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_018014.3NP_060484.2  B-cell lymphoma/leukemia 11A isoform 2

      See identical proteins and their annotated locations for NP_060484.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) is also known as B-cell lymphoma/leukaemia 11A long form (BCL11A-L). It has a different 3' end coding and UTR region when compared to variant 1, and thus encodes an isoform (2) that contains a different and shorter C-terminus, as compared to isoform 1.
      Source sequence(s)
      AF080216, AJ404611, AJ404612, BC021098
      Consensus CDS
      CCDS1861.1
      UniProtKB/Swiss-Prot
      Q9H165
      UniProtKB/TrEMBL
      D9YZV9
      Related
      ENSP00000349300, OTTHUMP00000159788, ENST00000356842, OTTHUMT00000251578
      Conserved Domains (3) summary
      sd00017
      Location:379399
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:378399
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:391416
      zf-H2C2_2; Zinc-finger double domain
    2. NM_022893.3NP_075044.2  B-cell lymphoma/leukemia 11A isoform 1

      See identical proteins and their annotated locations for NP_075044.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) is also known as B-cell lymphoma/leukaemia 11A extra long form (BCL11A-XL). It encodes the longest isoform (1).
      Source sequence(s)
      AB058712, AF080216, AJ404611, AK001035, BG393787
      Consensus CDS
      CCDS1862.1
      UniProtKB/Swiss-Prot
      Q9H165
      UniProtKB/TrEMBL
      D6W5D9
      Related
      ENSP00000338774, OTTHUMP00000159789, ENST00000335712, OTTHUMT00000251579
      Conserved Domains (3) summary
      sd00017
      Location:744764
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:743764
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:756781
      zf-H2C2_2; Zinc-finger double domain
    3. NM_138559.1NP_612569.1  B-cell lymphoma/leukemia 11A isoform 3

      See identical proteins and their annotated locations for NP_612569.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) is also known as B-cell lymphoma/leukaemia 11A short form (BCL11A-S). It lacks a large portion of the 3' coding region which introduces a frameshift, and it contains a different 3' UTR region when compared to variant 1. The encoded isoform (3) has a truncated and distinct C-terminus, as compared to isoform 1.
      Source sequence(s)
      AJ404613
      Consensus CDS
      CCDS46295.1
      UniProtKB/Swiss-Prot
      Q9H165
      Related
      ENSP00000352648, OTTHUMP00000201250, ENST00000359629, OTTHUMT00000325349

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p7 Primary Assembly

      Range
      60451167..60553498 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011532912.1XP_011531214.1  

      See identical proteins and their annotated locations for XP_011531214.1

      Conserved Domains (4) summary
      sd00017
      Location:345365
      ZF_C2H2; C2H2 Zn finger [structural motif]
      sd00019
      Location:710730
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:709730
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:722747
      zf-H2C2_2; Zinc-finger double domain
    2. XM_011532910.1XP_011531212.1  

      See identical proteins and their annotated locations for XP_011531212.1

      Conserved Domains (4) summary
      sd00017
      Location:379399
      ZF_C2H2; C2H2 Zn finger [structural motif]
      sd00019
      Location:744764
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:743764
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:756781
      zf-H2C2_2; Zinc-finger double domain
    3. XM_011532909.1XP_011531211.1  

      See identical proteins and their annotated locations for XP_011531211.1

      UniProtKB/Swiss-Prot
      Q9H165
      UniProtKB/TrEMBL
      D6W5D9
      Conserved Domains (3) summary
      sd00017
      Location:744764
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:743764
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:756781
      zf-H2C2_2; Zinc-finger double domain
    4. XM_017004334.1XP_016859823.1  

      UniProtKB/Swiss-Prot
      Q9H165
      Related
      ENSP00000351307, OTTHUMP00000202084, ENST00000358510, OTTHUMT00000327043
      Conserved Domains (3) summary
      sd00017
      Location:710730
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:709730
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:722747
      zf-H2C2_2; Zinc-finger double domain
    5. XM_017004335.1XP_016859824.1  

      Conserved Domains (3) summary
      sd00017
      Location:708728
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:707728
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:720745
      zf-H2C2_2; Zinc-finger double domain
    6. XM_017004333.1XP_016859822.1  

      Conserved Domains (3) summary
      sd00017
      Location:742762
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:741762
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:754779
      zf-H2C2_2; Zinc-finger double domain
    7. XM_017004336.1XP_016859825.1  

      Conserved Domains (3) summary
      sd00017
      Location:633653
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:632653
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:645670
      zf-H2C2_2; Zinc-finger double domain
    8. XM_017004338.1XP_016859827.1  

      Conserved Domains (3) summary
      sd00017
      Location:592612
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:591612
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:604629
      zf-H2C2_2; Zinc-finger double domain
    9. XM_017004337.1XP_016859826.1  

      Conserved Domains (3) summary
      sd00017
      Location:592612
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:591612
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:604629
      zf-H2C2_2; Zinc-finger double domain

    Alternate CHM1_1.1

    Genomic

    1. NC_018913.2 Alternate CHM1_1.1

      Range
      60608322..60710989 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_138553.1: Suppressed sequence

      Description
      NM_138553.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
    Support Center