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BCOR BCL6 corepressor [ Homo sapiens (human) ]

Gene ID: 54880, updated on 1-Jun-2020

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

Genomic context

See BCOR in Genome Data Viewer
Location:
Xp11.4
Exon count:
17
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (40051246..40177390, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (39910499..40036643, 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

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

NHGRI GWAS Catalog

Description
Genome-wide association studies of pit-and-fissure- and smooth-surface caries in permanent dentition.
NHGRI GWA Catalog

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

Function Evidence Code Pubs
RNA polymerase II regulatory region sequence-specific DNA binding IEA
Inferred from Electronic Annotation
more info
 
heat shock protein binding IDA
Inferred from Direct Assay
more info
PubMed 
histone deacetylase binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
transcription corepressor activity IDA
Inferred from Direct Assay
more info
PubMed 
transcription corepressor activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
transcription factor binding IPI
Inferred from Physical Interaction
more info
PubMed 
transcription regulatory region sequence-specific DNA binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
contributes_to ubiquitin-protein transferase activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
blastocyst hatching IEA
Inferred from Electronic Annotation
more info
 
heart development IMP
Inferred from Mutant Phenotype
more info
PubMed 
histone H2A monoubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of bone mineralization IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of histone H3-K36 methylation IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of histone H3-K4 methylation IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of tooth mineralization IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of transcription by RNA polymerase II IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of transcription, DNA-templated IMP
Inferred from Mutant Phenotype
more info
PubMed 
odontogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
roof of mouth development IMP
Inferred from Mutant Phenotype
more info
PubMed 
specification of axis polarity IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
BCOR complex IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
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)

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.

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
    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
    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

    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

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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