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    BCOR BCL6 corepressor [ Homo sapiens (human) ]

    Gene ID: 54880, updated on 19-Sep-2021

    Summary

    Official Symbol
    BCORprovided by HGNC
    Official Full Name
    BCL6 corepressorprovided by HGNC
    Primary source
    HGNC:HGNC:20893
    See related
    Ensembl:ENSG00000183337 MIM:300485
    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
    MAA2; ANOP2; MCOPS2
    Summary
    The protein encoded by this gene was identified as an interacting corepressor of BCL6, a POZ/zinc finger transcription repressor that is required for germinal center formation and may influence apoptosis. This protein selectively interacts with the POZ domain of BCL6, but not with eight other POZ proteins. Specific class I and II histone deacetylases (HDACs) have been shown to interact with this protein, which suggests a possible link between the two classes of HDACs. Several transcript variants encoding different isoforms have been found for this gene. A pseudogene of this gene is found on chromosome Y.[provided by RefSeq, Jun 2010]
    Expression
    Ubiquitous expression in thyroid (RPKM 8.0), lymph node (RPKM 7.0) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See BCOR in Genome Data Viewer
    Location:
    Xp11.4
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (40051246..40177390, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (39910499..40036582, complement)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 3177 Neighboring gene uncharacterized LOC105373180 Neighboring gene translation initiation factor IF-2-like Neighboring gene ZFP161 motif-containing MPRA enhancer 114 Neighboring gene uncharacterized LOC105373181 Neighboring gene uncharacterized LOC101927476 Neighboring gene uncharacterized LOC105373182 Neighboring gene inosine monophosphate dehydrogenase 1 pseudogene 2

    Genomic regions, transcripts, and products

    Expression

    • 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Genome-wide association studies of pit-and-fissure- and smooth-surface caries in permanent dentition.
    GeneReviews: Not available
    Lenz microphthalmia syndrome
    MedGen: C0796016 OMIM: 309800 GeneReviews: Not available
    Compare labs
    Oculofaciocardiodental syndrome
    MedGen: C1846265 OMIM: 300166 GeneReviews: Not available
    Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2012-10-04)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated 2012-10-04)

    ClinGen Genome Curation PagePubMed

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ20285, FLJ38041, KIAA1575, MGC71031, MGC131961

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    part_of BCOR complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    BCL-6 corepressor
    Names
    BCL-6 coreceptor
    BCL-6 interacting corepressor
    BCL6 interacting corepressor

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_008880.1 RefSeqGene

      Range
      5001..131084
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_627

    mRNA and Protein(s)

    1. NM_001123383.1NP_001116855.1  BCL-6 corepressor isoform a

      See identical proteins and their annotated locations for NP_001116855.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and uses an alternate in-frame splice site compared to variant 5. The resulting isoform (a) has the same N- and C-termini but is shorter compared to isoform c. Variants 1 and 3 both encode the same isoform (a).
      Source sequence(s)
      AC092198, AK056538, BC114220
      Consensus CDS
      CCDS14250.1
      UniProtKB/Swiss-Prot
      Q6W2J9
      Related
      ENSP00000345923.4, ENST00000342274.8
      Conserved Domains (5) summary
      cd00204
      Location:14231531
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      cd14261
      Location:15981712
      PUFD; PCGF Ub-like fold discriminator of BCOR
      pfam12796
      Location:14331524
      Ank_2; Ankyrin repeats (3 copies)
      pfam15808
      Location:11681380
      BCOR; BCL-6 co-repressor, non-ankyrin-repeat region
      sd00045
      Location:14291460
      ANK; ANK repeat [structural motif]
    2. NM_001123384.2NP_001116856.1  BCL-6 corepressor isoform b

      See identical proteins and their annotated locations for NP_001116856.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR and lacks two alternate in-frame segments compared to variant 5. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform c.
      Source sequence(s)
      AC092198, BC114220
      Consensus CDS
      CCDS48092.1
      UniProtKB/Swiss-Prot
      Q6W2J9
      Related
      ENSP00000367716.4, ENST00000378455.8
      Conserved Domains (5) summary
      cd00204
      Location:14051513
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      cd14261
      Location:15801694
      PUFD; PCGF Ub-like fold discriminator of BCOR
      pfam12796
      Location:14151506
      Ank_2; Ankyrin repeats (3 copies)
      pfam15808
      Location:11501362
      BCOR; BCL-6 co-repressor, non-ankyrin-repeat region
      sd00045
      Location:14111442
      ANK; ANK repeat [structural motif]
    3. NM_001123385.2NP_001116857.1  BCL-6 corepressor isoform c

      See identical proteins and their annotated locations for NP_001116857.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) represents the longest transcript and encodes the longest isoform (c).
      Source sequence(s)
      AC092198, AK056538, AL591802, AL698729, AY316592, BC114220
      Consensus CDS
      CCDS48093.1
      UniProtKB/Swiss-Prot
      Q6W2J9
      Related
      ENSP00000367705.4, ENST00000378444.9
      Conserved Domains (5) summary
      cd00204
      Location:14571565
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      cd14261
      Location:16321746
      PUFD; PCGF Ub-like fold discriminator of BCOR
      pfam12796
      Location:14671558
      Ank_2; Ankyrin repeats (3 copies)
      pfam15808
      Location:12021414
      BCOR; BCL-6 co-repressor, non-ankyrin-repeat region
      sd00045
      Location:14631494
      ANK; ANK repeat [structural motif]
    4. NM_017745.6NP_060215.4  BCL-6 corepressor isoform a

      See identical proteins and their annotated locations for NP_060215.4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) uses an alternate in-frame splice site compared to variant 5. The resulting isoform (a) has the same N- and C-termini but is shorter compared to isoform c. Variants 1 and 3 both encode the same isoform (a).
      Source sequence(s)
      AC092198, AK056538, AL591802, AL698729, BC114220
      Consensus CDS
      CCDS14250.1
      UniProtKB/Swiss-Prot
      Q6W2J9
      Related
      ENSP00000380512.3, ENST00000397354.7
      Conserved Domains (5) summary
      cd00204
      Location:14231531
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      cd14261
      Location:15981712
      PUFD; PCGF Ub-like fold discriminator of BCOR
      pfam12796
      Location:14331524
      Ank_2; Ankyrin repeats (3 copies)
      pfam15808
      Location:11681380
      BCOR; BCL-6 co-repressor, non-ankyrin-repeat region
      sd00045
      Location:14291460
      ANK; ANK repeat [structural motif]

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

      Range
      40051246..40177390 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005272616.1XP_005272673.1  BCL-6 corepressor isoform X1

      See identical proteins and their annotated locations for XP_005272673.1

      UniProtKB/Swiss-Prot
      Q6W2J9
      Related
      ENSP00000499892.2, ENST00000672922.2
      Conserved Domains (5) summary
      cd00204
      Location:14571565
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      cd14261
      Location:16321746
      PUFD; PCGF Ub-like fold discriminator of BCOR
      pfam12796
      Location:14671558
      Ank_2; Ankyrin repeats (3 copies)
      pfam15808
      Location:12021414
      BCOR; BCL-6 co-repressor, non-ankyrin-repeat region
      sd00045
      Location:14631494
      ANK; ANK repeat [structural motif]
    2. XM_011543931.2XP_011542233.1  BCL-6 corepressor isoform X1

      See identical proteins and their annotated locations for XP_011542233.1

      UniProtKB/Swiss-Prot
      Q6W2J9
      Conserved Domains (5) summary
      cd00204
      Location:14571565
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      cd14261
      Location:16321746
      PUFD; PCGF Ub-like fold discriminator of BCOR
      pfam12796
      Location:14671558
      Ank_2; Ankyrin repeats (3 copies)
      pfam15808
      Location:12021414
      BCOR; BCL-6 co-repressor, non-ankyrin-repeat region
      sd00045
      Location:14631494
      ANK; ANK repeat [structural motif]
    3. XM_011543930.1XP_011542232.1  BCL-6 corepressor isoform X1

      See identical proteins and their annotated locations for XP_011542232.1

      UniProtKB/Swiss-Prot
      Q6W2J9
      Conserved Domains (5) summary
      cd00204
      Location:14571565
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      cd14261
      Location:16321746
      PUFD; PCGF Ub-like fold discriminator of BCOR
      pfam12796
      Location:14671558
      Ank_2; Ankyrin repeats (3 copies)
      pfam15808
      Location:12021414
      BCOR; BCL-6 co-repressor, non-ankyrin-repeat region
      sd00045
      Location:14631494
      ANK; ANK repeat [structural motif]
    4. XM_011543929.2XP_011542231.1  BCL-6 corepressor isoform X1

      See identical proteins and their annotated locations for XP_011542231.1

      UniProtKB/Swiss-Prot
      Q6W2J9
      Conserved Domains (5) summary
      cd00204
      Location:14571565
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      cd14261
      Location:16321746
      PUFD; PCGF Ub-like fold discriminator of BCOR
      pfam12796
      Location:14671558
      Ank_2; Ankyrin repeats (3 copies)
      pfam15808
      Location:12021414
      BCOR; BCL-6 co-repressor, non-ankyrin-repeat region
      sd00045
      Location:14631494
      ANK; ANK repeat [structural motif]
    5. XM_005272618.3XP_005272675.1  BCL-6 corepressor isoform X1

      See identical proteins and their annotated locations for XP_005272675.1

      UniProtKB/Swiss-Prot
      Q6W2J9
      Related
      ENSP00000384485.3, ENST00000406200.4
      Conserved Domains (5) summary
      cd00204
      Location:14571565
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      cd14261
      Location:16321746
      PUFD; PCGF Ub-like fold discriminator of BCOR
      pfam12796
      Location:14671558
      Ank_2; Ankyrin repeats (3 copies)
      pfam15808
      Location:12021414
      BCOR; BCL-6 co-repressor, non-ankyrin-repeat region
      sd00045
      Location:14631494
      ANK; ANK repeat [structural motif]
    6. XM_017029615.1XP_016885104.1  BCL-6 corepressor isoform X3

      UniProtKB/Swiss-Prot
      Q6W2J9
      Related
      ENSP00000500446.1, ENST00000673391.1
      Conserved Domains (5) summary
      cd00204
      Location:14231531
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      cd14261
      Location:15981712
      PUFD; PCGF Ub-like fold discriminator of BCOR
      pfam12796
      Location:14331524
      Ank_2; Ankyrin repeats (3 copies)
      pfam15808
      Location:11681380
      BCOR; BCL-6 co-repressor, non-ankyrin-repeat region
      sd00045
      Location:14291460
      ANK; ANK repeat [structural motif]
    7. XM_006724536.3XP_006724599.1  BCL-6 corepressor isoform X1

      See identical proteins and their annotated locations for XP_006724599.1

      UniProtKB/Swiss-Prot
      Q6W2J9
      Conserved Domains (5) summary
      cd00204
      Location:14571565
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      cd14261
      Location:16321746
      PUFD; PCGF Ub-like fold discriminator of BCOR
      pfam12796
      Location:14671558
      Ank_2; Ankyrin repeats (3 copies)
      pfam15808
      Location:12021414
      BCOR; BCL-6 co-repressor, non-ankyrin-repeat region
      sd00045
      Location:14631494
      ANK; ANK repeat [structural motif]
    8. XM_005272620.4XP_005272677.1  BCL-6 corepressor isoform X4

      See identical proteins and their annotated locations for XP_005272677.1

      UniProtKB/Swiss-Prot
      Q6W2J9
      Conserved Domains (5) summary
      cd00204
      Location:14051513
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      cd14261
      Location:15801694
      PUFD; PCGF Ub-like fold discriminator of BCOR
      pfam12796
      Location:14151506
      Ank_2; Ankyrin repeats (3 copies)
      pfam15808
      Location:11501362
      BCOR; BCL-6 co-repressor, non-ankyrin-repeat region
      sd00045
      Location:14111442
      ANK; ANK repeat [structural motif]
    9. XM_005272619.4XP_005272676.1  BCL-6 corepressor isoform X2

      Related
      ENSP00000403823.3, ENST00000427012.3
      Conserved Domains (5) summary
      cd00204
      Location:14391547
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      cd14261
      Location:16141728
      PUFD; PCGF Ub-like fold discriminator of BCOR
      pfam12796
      Location:14491540
      Ank_2; Ankyrin repeats (3 copies)
      pfam15808
      Location:11841396
      BCOR; BCL-6 co-repressor, non-ankyrin-repeat region
      sd00045
      Location:14451476
      ANK; ANK repeat [structural motif]
    10. XM_017029616.2XP_016885105.1  BCL-6 corepressor isoform X5

      Related
      ENSP00000387552.2, ENST00000442018.6

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001130139.1: Suppressed sequence

      Description
      NM_001130139.1: This RefSeq was temporarily suppressed because currently there is not sufficient data to support this transcript.
    2. NM_020926.2: Suppressed sequence

      Description
      NM_020926.2: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
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