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BCOR BCL6 corepressor [ Homo sapiens (human) ]

Gene ID: 54880, updated on 15-May-2016
Official Symbol
BCORprovided by HGNC
Official Full Name
BCL6 corepressorprovided by HGNC
Primary source
HGNC:HGNC:20893
See related
Ensembl:ENSG00000183337 HPRD:06458; MIM:300485; Vega:OTTHUMG00000024100
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]
Orthologs
Location:
Xp11.4
Exon count:
19
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 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 ribosomal protein S11 pseudogene 7 Neighboring gene uncharacterized LOC105373180 Neighboring gene uncharacterized LOC105373181 Neighboring gene uncharacterized LOC101927476 Neighboring gene uncharacterized LOC105373183

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

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
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ20285, FLJ38041, KIAA1575, MGC71031, MGC131961

Gene Ontology Provided by GOA

Function Evidence Code Pubs
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 DNA binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
contributes_to ubiquitin-protein transferase activity IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
colocalizes_with PcG protein complex IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
BCL-6 corepressor
Names
BCL-6 interacting corepressor

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, ENST00000342274
    Conserved Domains (3) 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 ...
    pfam12796
    Location:14331524
    Ank_2; Ankyrin repeats (3 copies)
    cd14261
    Location:15981712
    PUFD; PCGF Ub-like fold discriminator of BCOR
  2. NM_001123384.1NP_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, OTTHUMP00000202255, ENST00000378455, OTTHUMT00000327527
    Conserved Domains (3) 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 ...
    pfam12796
    Location:14151506
    Ank_2; Ankyrin repeats (3 copies)
    cd14261
    Location:15801694
    PUFD; PCGF Ub-like fold discriminator of BCOR
  3. NM_001123385.1NP_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, AL698729, AY316592, BC114220
    Consensus CDS
    CCDS48093.1
    UniProtKB/Swiss-Prot
    Q6W2J9
    Related
    ENSP00000367705, OTTHUMP00000025763, ENST00000378444, OTTHUMT00000060666
    Conserved Domains (3) 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 ...
    pfam12796
    Location:14671558
    Ank_2; Ankyrin repeats (3 copies)
    cd14261
    Location:16321746
    PUFD; PCGF Ub-like fold discriminator of BCOR
  4. NM_017745.5NP_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, AL698729, BC114220
    Consensus CDS
    CCDS14250.1
    UniProtKB/Swiss-Prot
    Q6W2J9
    Related
    ENSP00000380512, OTTHUMP00000025766, ENST00000397354, OTTHUMT00000060670
    Conserved Domains (3) 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 ...
    pfam12796
    Location:14331524
    Ank_2; Ankyrin repeats (3 copies)
    cd14261
    Location:15981712
    PUFD; PCGF Ub-like fold discriminator of BCOR

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p2 Primary Assembly

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

mRNA and Protein(s)

  1. XM_005272616.1XP_005272673.1  

    See identical proteins and their annotated locations for XP_005272673.1

    UniProtKB/Swiss-Prot
    Q6W2J9
    Conserved Domains (3) 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 ...
    pfam12796
    Location:14671558
    Ank_2; Ankyrin repeats (3 copies)
    cd14261
    Location:16321746
    PUFD; PCGF Ub-like fold discriminator of BCOR
  2. XM_011543931.1XP_011542233.1  

    See identical proteins and their annotated locations for XP_011542233.1

    UniProtKB/Swiss-Prot
    Q6W2J9
    Conserved Domains (3) 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 ...
    pfam12796
    Location:14671558
    Ank_2; Ankyrin repeats (3 copies)
    cd14261
    Location:16321746
    PUFD; PCGF Ub-like fold discriminator of BCOR
  3. XM_011543930.1XP_011542232.1  

    See identical proteins and their annotated locations for XP_011542232.1

    UniProtKB/Swiss-Prot
    Q6W2J9
    Conserved Domains (3) 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 ...
    pfam12796
    Location:14671558
    Ank_2; Ankyrin repeats (3 copies)
    cd14261
    Location:16321746
    PUFD; PCGF Ub-like fold discriminator of BCOR
  4. XM_011543929.1XP_011542231.1  

    See identical proteins and their annotated locations for XP_011542231.1

    UniProtKB/Swiss-Prot
    Q6W2J9
    Conserved Domains (3) 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 ...
    pfam12796
    Location:14671558
    Ank_2; Ankyrin repeats (3 copies)
    cd14261
    Location:16321746
    PUFD; PCGF Ub-like fold discriminator of BCOR
  5. XM_005272618.2XP_005272675.1  

    See identical proteins and their annotated locations for XP_005272675.1

    UniProtKB/Swiss-Prot
    Q6W2J9
    Conserved Domains (3) 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 ...
    pfam12796
    Location:14671558
    Ank_2; Ankyrin repeats (3 copies)
    cd14261
    Location:16321746
    PUFD; PCGF Ub-like fold discriminator of BCOR
  6. XM_005272620.3XP_005272677.1  

    See identical proteins and their annotated locations for XP_005272677.1

    UniProtKB/Swiss-Prot
    Q6W2J9
    Conserved Domains (3) 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 ...
    pfam12796
    Location:14151506
    Ank_2; Ankyrin repeats (3 copies)
    cd14261
    Location:15801694
    PUFD; PCGF Ub-like fold discriminator of BCOR
  7. XM_005272619.3XP_005272676.1  

    Conserved Domains (3) 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 ...
    pfam12796
    Location:14491540
    Ank_2; Ankyrin repeats (3 copies)
    cd14261
    Location:16141728
    PUFD; PCGF Ub-like fold discriminator of BCOR
  8. XM_006724536.2XP_006724599.1  

    See identical proteins and their annotated locations for XP_006724599.1

    UniProtKB/Swiss-Prot
    Q6W2J9
    Conserved Domains (3) 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 ...
    pfam12796
    Location:14671558
    Ank_2; Ankyrin repeats (3 copies)
    cd14261
    Location:16321746
    PUFD; PCGF Ub-like fold discriminator of BCOR

Alternate CHM1_1.1

Genomic

  1. NC_018934.2 Alternate CHM1_1.1

    Range
    39942309..40068287 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

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.