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    BCL11B B-cell CLL/lymphoma 11B [ Homo sapiens (human) ]

    Gene ID: 64919, updated on 24-Jun-2017
    Official Symbol
    BCL11Bprovided by HGNC
    Official Full Name
    B-cell CLL/lymphoma 11Bprovided by HGNC
    Primary source
    HGNC:HGNC:13222
    See related
    Ensembl:ENSG00000127152 MIM:606558; Vega:OTTHUMG00000028967
    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
    ATL1; RIT1; CTIP2; IMD49; CTIP-2; ZNF856B; ATL1-beta; ATL1-alpha; ATL1-delta; ATL1-gamma; hRIT1-alpha
    Summary
    This gene encodes a C2H2-type zinc finger protein and is closely related to BCL11A, a gene whose translocation may be associated with B-cell malignancies. Although the specific function of this gene has not been determined, the encoded protein is known to be a transcriptional repressor, and is regulated by the NURD nucleosome remodeling and histone deacetylase complex. Four alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Aug 2013]
    Orthologs
    Location:
    14q32.2
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 14 NC_000014.9 (99169287..99271713, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (99635624..99738514, complement)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107984696 Neighboring gene uncharacterized LOC105370659 Neighboring gene uncharacterized LOC105370660 Neighboring gene SET domain containing 3 Neighboring gene RNA, U6 small nuclear 91, pseudogene

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Immunodeficiency 49
    MedGen: CN239549 OMIM: 617237 GeneReviews: Not available
    not available

    NHGRI GWAS Catalog

    Description
    Biological insights from 108 schizophrenia-associated genetic loci.
    NHGRI GWA Catalog
    Common genetic variation in the 3'-BCL11B gene desert is associated with carotid-femoral pulse wave velocity and excess cardiovascular disease risk: the AortaGen Consortium.
    NHGRI GWA Catalog
    Genetic variants near PDGFRA are associated with corneal curvature in Australians.
    NHGRI GWA Catalog
    Genome wide association study of SNP-, gene-, and pathway-based approaches to identify genes influencing susceptibility to Staphylococcus aureus infections.
    NHGRI GWA Catalog

    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat LSD1 interacts with CTIP2 and co-localizes with HIV-1 Tat. LSD1 is required for CTIP2 recruitment at the HIV-1 proximal promoter to repress HIV-1 replication and transcription PubMed
    tat BCL11B and metastasis associated 1 protein (MTA1) inhibits HIV-1 Tat-mediated LTR transactivation by association with the integrated HIV-LTR PubMed
    tat CTIP2 forms a complex with HIV-1 Tat and HP1alpha resulting in relocalization of Tat and inactivation of Tat-mediated transactivation of the HIV-1 LTR promoter PubMed
    tat CTIP2 harbors two HIV-1 Tat interaction interfaces (amino acids 145-434 and 717-813) and binds to the N-terminus (amino acids 1-48) of Tat PubMed
    Vpr vpr COUP-TF-interacting protein 2 (CTIP2) abolishes Vpr-mediated stimulation of p21 by cooperating with SUV39H1 and HDAC1/HDAC2 to silence the p21 gene transcription PubMed

    Go to the HIV-1, Human Interaction Database

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    RNA polymerase II core promoter proximal region sequence-specific DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    transcription regulatory region DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Process Evidence Code Pubs
    T cell differentiation in thymus IEA
    Inferred from Electronic Annotation
    more info
     
    T cell receptor V(D)J recombination IEA
    Inferred from Electronic Annotation
    more info
     
    alpha-beta T cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    commitment of neuronal cell to specific neuron type in forebrain IEA
    Inferred from Electronic Annotation
    more info
     
    epithelial cell morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    hematopoietic stem cell migration IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    keratinocyte development IEA
    Inferred from Electronic Annotation
    more info
     
    lymphoid lineage cell migration into thymus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    neurogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    odontogenesis of dentin-containing tooth IEA
    Inferred from Electronic Annotation
    more info
     
    olfactory bulb axon guidance IEA
    Inferred from Electronic Annotation
    more info
     
    positive T cell selection IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of transcription from RNA polymerase II promoter IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    post-embryonic camera-type eye development IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of keratinocyte proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of lipid metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of neuron differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    striatal medium spiny neuron differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    thymus development IEA
    Inferred from Electronic Annotation
    more info
     
    transcription from RNA polymerase II promoter IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    neuron projection IEA
    Inferred from Electronic Annotation
    more info
     
    nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Preferred Names
    B-cell lymphoma/leukemia 11B
    Names
    B-cell CLL/lymphoma 11B (zinc finger protein)
    B-cell CLL/lymphoma 11B/T-cell receptor delta constant region fusion protein
    B-cell lymphoma/leukaemia 11B
    BCL-11B
    BCL11B/TRDC fusion
    COUP-TF-interacting protein 2
    hRit1
    radiation-induced tumor suppressor gene 1 protein
    zinc finger protein hRit1 alpha

    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_027894.1 RefSeqGene

      Range
      4773..107199
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001282237.1NP_001269166.1  B-cell lymphoma/leukemia 11B isoform 3

      See identical proteins and their annotated locations for NP_001269166.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate in-frame splice junction at the 5' end of an exon compared to variant 1. The resulting isoform (3) has the same N- and C-termini but is 1 aa shorter compared to isoform 1.
      Source sequence(s)
      AB057668, AJ404614, AL109767
      UniProtKB/Swiss-Prot
      Q9C0K0
      UniProtKB/TrEMBL
      L8B8F6
      Conserved Domains (4) summary
      sd00017
      Location:797817
      ZF_C2H2; C2H2 Zn finger [structural motif]
      sd00019
      Location:428448
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:796817
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:809834
      zf-H2C2_2; Zinc-finger double domain
    2. NM_001282238.1NP_001269167.1  B-cell lymphoma/leukemia 11B isoform 4

      See identical proteins and their annotated locations for NP_001269167.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) uses an alternate in-frame splice junction at the 5' end of an exon and lacks an alternate in-frame exon compared to variant 1. The resulting isoform (4) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AB057670, AJ404614, AL109767
      UniProtKB/Swiss-Prot
      Q9C0K0
      UniProtKB/TrEMBL
      L8B862
      Conserved Domains (3) summary
      sd00017
      Location:726746
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:725746
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:738763
      zf-H2C2_2; Zinc-finger double domain
    3. NM_022898.2NP_075049.1  B-cell lymphoma/leukemia 11B isoform 2

      See identical proteins and their annotated locations for NP_075049.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AB057669, AJ404614
      Consensus CDS
      CCDS9949.1
      UniProtKB/Swiss-Prot
      Q9C0K0
      UniProtKB/TrEMBL
      L8B567
      Related
      ENSP00000280435.6, OTTHUMP00000067187, ENST00000345514.2, OTTHUMT00000072333
      Conserved Domains (4) summary
      sd00017
      Location:727747
      ZF_C2H2; C2H2 Zn finger [structural motif]
      sd00019
      Location:358378
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:726747
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:739764
      zf-H2C2_2; Zinc-finger double domain
    4. NM_138576.3NP_612808.1  B-cell lymphoma/leukemia 11B isoform 1

      See identical proteins and their annotated locations for NP_612808.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AB041218, AB043584, AJ404614
      Consensus CDS
      CCDS9950.1
      UniProtKB/Swiss-Prot
      Q9C0K0
      UniProtKB/TrEMBL
      L8B7P7
      Related
      ENSP00000349723.3, OTTHUMP00000067186, ENST00000357195.7, OTTHUMT00000072332
      Conserved Domains (4) summary
      sd00017
      Location:798818
      ZF_C2H2; C2H2 Zn finger [structural motif]
      sd00019
      Location:429449
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:797818
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:810835
      zf-H2C2_2; Zinc-finger double domain

    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_000014.9 Reference GRCh38.p7 Primary Assembly

      Range
      99169287..99271713 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018925.2 Alternate CHM1_1.1

      Range
      99573389..99675806 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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