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BCOR Gene

protein-coding   GIFtS: 62
GCID: GC0XM039909

BCL6 Corepressor

(Previous name: BCL6 co-repressor)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
BCL6 Corepressor1 2     BCL6 Co-Repressor1
ANOP22 5     BCL-6 Corepressor2
MAA22 5     BCL-6 Interacting Corepressor2
MCOPS22 5     BCoR3
KIAA15753 5     

External Ids:    HGNC: 208931   Entrez Gene: 548802   Ensembl: ENSG000001833377   OMIM: 3004855   UniProtKB: Q6W2J93   

Export aliases for BCOR gene to outside databases

Previous GC identifers: GC0XM038755 GC0XM038941 GC0XM039666 GC0XM039794 GC0XM037648


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for BCOR Gene:
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)

GeneCards Summary for BCOR Gene:
BCOR (BCL6 corepressor) is a protein-coding gene. Diseases associated with BCOR include bcor-related lenz microphthalmia syndrome, and oculofaciocardiodental syndrome. GO annotations related to this gene include transcription corepressor activity and transcription factor binding. An important paralog of this gene is BARD1.

UniProtKB/Swiss-Prot: BCOR_HUMAN, Q6W2J9
Function: Transcriptional corepressor. May specifically inhibit gene expression when recruited to promoter regions
by sequence-specific DNA-binding proteins such as BCL6 and MLLT3. This repression may be mediated at least in
part by histone deacetylase activities which can associate with this corepressor. Involved in the repression of
TFAP2A; impairs binding of BCL6 and KDM2B to TFAP2A promoter regions. Via repression of TFAP2A acts as a negative
regulator of osteo-dentiogenic capacity in adult stem cells; the function implies inhibition of methylation on
histone H3 'Lys-4' (H3K4me3) and 'Lys-36' (H3K36me2)

Gene Wiki entry for BCOR Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000023.11  NT_079573.5  NC_018934.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the BCOR gene promoter:
         E2F-3a   E2F-4   E2F-5   E2F-1   E2F-2   YY1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidBCOR promoter sequence
   Search Chromatin IP Primers for BCOR

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat BCOR


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: Xp11.4   Ensembl cytogenetic band:  Xp11.4   HGNC cytogenetic band: Xp11.4

BCOR Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
BCOR gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XM039909:  view genomic region     (about GC identifiers)

Start:
39,909,068 bp from pter      End:
40,036,582 bp from pter
Size:
127,515 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: BCOR_HUMAN, Q6W2J9 (See protein sequence)
Recommended Name: BCL-6 corepressor  
Size: 1755 amino acids; 192189 Da
Subunit: Interacts with BCL6; the interaction is direct. Forms ternary complexes with BCL6 and SMRT/NCOR2 on
selected target genes promoters; potently repress expression. Can interact with HDAC1, HDAC3 and HDAC5. Interacts
with PCGF1; the interaction is direct. Interacts with KDM2B. Component of an approximative 800 kDa repressive
BCOR complex at least composed of BCOR, RYBP, PCGF1, RING1, RNF2/RING2, KDM2B and SKP1. Isoform 1 may interact
with MLLT3/AF9
Sequence caution: Sequence=AAH63536.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Presence of
complementary strand sequence in the clone; Sequence=BAA91061.1; Type=Miscellaneous discrepancy; Note=Intron
retention; Sequence=BAB13401.2; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Sequence=BAB85037.1; Type=Frameshift; Positions=1353;
2 PDB 3D structures from and Proteopedia for BCOR:
3BIM (3D)        4HPL (3D)    
Secondary accessions: D3DWB3 D3DWB4 Q29RF6 Q6P4B6 Q7Z2K7 Q8TEB4 Q96DB3 Q9H232 Q9H233 Q9HCJ7
Q9NXF2
Alternative splicing: 4 isoforms:  Q6W2J9-1   Q6W2J9-2   Q6W2J9-3   Q6W2J9-4   

Explore the universe of human proteins at neXtProt for BCOR: NX_Q6W2J9

Explore proteomics data for BCOR at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys872, Lys1104, Lys1460
  • Modification sites at PhosphoSitePlus

  • See BCOR Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_001116855.1  NP_001116856.1  NP_001116857.1  NP_060215.4  

    ENSEMBL proteins: 
     ENSP00000408006   ENSP00000367724   ENSP00000380512   ENSP00000367716   ENSP00000367705  
     ENSP00000387552   ENSP00000403823   ENSP00000384485   ENSP00000390273   ENSP00000345923  

    BCOR Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for BCOR

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    BCOR Assay Products:

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    Cloud-Clone Corp. CLIAs for BCOR


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    ANKRD: Ankyrin repeat domain containing

    2 InterPro protein domains:
     IPR002110 Ankyrin_rpt
     IPR020683 Ankyrin_rpt-contain_dom

    Graphical View of Domain Structure for InterPro Entry Q6W2J9

    ProtoNet protein and cluster: Q6W2J9

    1 Blocks protein domain: IPB002110 Ankyrin repeat signature

    UniProtKB/Swiss-Prot: BCOR_HUMAN, Q6W2J9
    Similarity: Belongs to the BCOR family
    Similarity: Contains 3 ANK repeats


    BCOR for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: BCOR_HUMAN, Q6W2J9
    Function: Transcriptional corepressor. May specifically inhibit gene expression when recruited to promoter regions
    by sequence-specific DNA-binding proteins such as BCL6 and MLLT3. This repression may be mediated at least in
    part by histone deacetylase activities which can associate with this corepressor. Involved in the repression of
    TFAP2A; impairs binding of BCL6 and KDM2B to TFAP2A promoter regions. Via repression of TFAP2A acts as a negative
    regulator of osteo-dentiogenic capacity in adult stem cells; the function implies inhibition of methylation on
    histone H3 'Lys-4' (H3K4me3) and 'Lys-36' (H3K36me2)

         Gene Ontology (GO): Selected molecular function terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003714transcription corepressor activity IMP15878880
    GO:0004842contributes to ubiquitin-protein ligase activity IDA16943429
    GO:0005515protein binding IPI10898795
    GO:0008134transcription factor binding IPI10898795
    GO:0031072heat shock protein binding IDA16943429
         
    BCOR for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for BCOR:
     Increased gamma-H2AX phosphory 

         5 MGI mutant phenotypes (inferred from 5 alleles(MGI details for Bcor):
     cardiovascular system  craniofacial  embryogenesis  mortality/aging  nervous system 

    BCOR for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for BCOR
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for BCOR
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for BCOR

    miRNA
    Products:
        
    miRTarBase miRNAs that target BCOR:
    hsa-mir-346 (MIRT042721), hsa-mir-615-3p (MIRT039646), hsa-mir-425-5p (MIRT016675), hsa-mir-598-3p (MIRT040487), hsa-mir-191-5p (MIRT045797), hsa-let-7c-5p (MIRT051754), hsa-mir-320a (MIRT044816), hsa-let-7a-5p (MIRT052633), hsa-mir-215-5p (MIRT024747), hsa-mir-328-3p (MIRT043816), hsa-mir-192-5p (MIRT026271), hsa-let-7b-5p (MIRT052180), hsa-let-7f-5p (MIRT051395), hsa-mir-125b-5p (MIRT045914)

    Block miRNA regulation of human, mouse, rat BCOR using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate BCOR (see all 37):
    hsa-miR-3607-3p hsa-miR-485-3p hsa-miR-3653 hsa-miR-30d hsa-miR-570 hsa-miR-30a hsa-miR-3658 hsa-miR-1243
    SwitchGear 3'UTR luciferase reporter plasmidBCOR 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for BCOR
    Predesigned siRNA for gene silencing in human, mouse, rat BCOR

    Gene Editing
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    DNA2.0 Custom Protein Engineering Service for BCOR

    Clone
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    OriGene clones in human, mouse for BCOR (see all 22)
    OriGene ORF clones in mouse, rat for BCOR
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    GenScript: all cDNA clones in your preferred vector (see all 4): BCOR (NM_001123384)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for BCOR
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BCOR

    Cell Line
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BCOR


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    BCOR_HUMAN, Q6W2J9: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol2
    golgi apparatus1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA10898795
    GO:0031519colocalizes with PcG protein complex IDA16943429

    BCOR for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for BCOR About    
    See pathways by source

    SuperPathContained pathways About
    1Signaling events mediated by HDAC Class II
    Signaling events mediated by HDAC Class II


    1 BioSystems Pathway for BCOR
        Signaling events mediated by HDAC Class II


        Pathway & Disease-focused RT2 Profiler PCR Array including BCOR: 
              Ubiquitin Ligases in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for BCOR

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for BCOR (Q6W2J91, 2, 3 ENSP000003677054) via UniProtKB, MINT, STRING, and/or I2D (see all 32)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    KDM2BQ8NHM51, 3, ENSP000003662714EBI-950027,EBI-3955564 I2D: score=3 STRING: ENSP00000366271
    ENSG00000235107Q065873, ENSP000003964394I2D: score=1 STRING: ENSP00000396439
    ENSG00000206287Q065873I2D: score=1 
    ENSG00000226788Q065873I2D: score=1 
    ENSG00000228520Q065873I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter IMP19578371
    GO:0000415negative regulation of histone H3-K36 methylation IMP19578371
    GO:0006351transcription, DNA-templated IEA--
    GO:0007507heart development IMP17517692
    GO:0030502negative regulation of bone mineralization IMP19578371

    BCOR for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for BCOR



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for BCOR gene (6 alternative transcripts): 
    NM_001123383.1  NM_001123384.1  NM_001123385.1  NM_017745.5  NM_001130139.1  NM_020926.2  

    Unigene Cluster for BCOR:

    BCL6 corepressor
    Hs.659681  [show with all ESTs]
    Unigene Representative Sequence: JN813375
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000413905 ENST00000378463 ENST00000397354(uc010nhb.3 uc004dem.4)
    ENST00000378455(uc004deo.4) ENST00000378444(uc004den.4) ENST00000442018
    ENST00000427012 ENST00000406200 ENST00000490976(uc004deq.4) ENST00000412952
    ENST00000342274(uc004dep.4)
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat BCOR using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate BCOR (see all 37):
    hsa-miR-3607-3p hsa-miR-485-3p hsa-miR-3653 hsa-miR-30d hsa-miR-570 hsa-miR-30a hsa-miR-3658 hsa-miR-1243
    SwitchGear 3'UTR luciferase reporter plasmidBCOR 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat BCOR
    Clone
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    OriGene clones in human, mouse for BCOR (see all 22)
    OriGene ORF clones in mouse, rat for BCOR
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 4): BCOR (NM_001123384)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for BCOR
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BCOR
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for BCOR
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat BCOR
      QuantiTect SYBR Green Assays in human, mouse, rat BCOR
      QuantiFast Probe-based Assays in human, mouse, rat BCOR

    Additional mRNA sequence: 

    AF317391.1 AK000292.1 AK056538.1 AK074286.1 AK095360.1 AK225581.1 AY316592.1 BC009675.2 
    BC063536.1 BC114220.1 BC128387.1 HM597846.1 JN813375.1 

    15 DOTS entries:

    DT.92418971  DT.411076  DT.97841302  DT.100780299  DT.205488  DT.97814660  DT.97841303  DT.121311318 
    DT.40267574  DT.95155854  DT.121311362  DT.86845733  DT.75164970  DT.91783369  DT.95370753 

    Selected AceView cDNA sequences (see all 115):

    AW969328 AL044059 AL698729 AI674453 AL044058 AW502817 BU181901 AK056538 
    AI680086 AI005244 BP355895 AI682375 AK074286 BC009675 AI453300 AW071020 
    BG390446 BQ879529 BF793183 AA442151 AK095360 CD628545 BM466278 BE792825 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for BCOR (see all 6)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c · 5d ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b ^ 16
    SP1:                                            -                                                                             -         
    SP2:                                            -                       -                                                     -         
    SP3:                                            -     -                 -                                                     -         
    SP4:                                                                                                                                    
    SP5:        -                                                                                                                           


    ECgene alternative splicing isoforms for BCOR

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    BCOR expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ACTGTAGAGT
    BCOR Expression
    About this image


    BCOR expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Blood (Hematopoietic System)
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
     
     Neural Tube (Nervous System)
             Primitive Spinal Cord
    BCOR Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    BCOR Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.659681

    UniProtKB/Swiss-Prot: BCOR_HUMAN, Q6W2J9
    Tissue specificity: Ubiquitously expressed

        Pathway & Disease-focused RT2 Profiler PCR Array including BCOR: 
              Ubiquitin Ligases in human mouse rat

    Primer
    Products:
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat BCOR
    QuantiTect SYBR Green Assays in human, mouse, rat BCOR
    QuantiFast Probe-based Assays in human, mouse, rat BCOR
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BCOR

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for BCOR gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Bcor1 , 5 BCL6 interacting corepressor1, 5 87.94(n)1
    89.1(a)1
      X (6.83 cM)5
    714581  NM_029510.31  NP_083786.21 
     120367405 
    chicken
    (Gallus gallus)
    Aves BCOR1 BCL6 corepressor 72.51(n)
    71.4(a)
      418574  XM_003640508.2  XP_003640556.1 
    lizard
    (Anolis carolinensis)
    Reptilia BCOR6
    BCL6 corepressor
    70(a)
    1 ↔ 1
    3(133398858-133459421)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia bcor1 BCL6 corepressor 62.07(n)
    56.61(a)
      100145189  NM_001126679.1  NP_001120151.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.161632 Danio rerio BCL-6 corepressor mRNA, complete cds 73.89(n)    AY316593.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG140736
    --
    13(a)
    1 → many
    3L(18795365-18813775)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes HOS46
    Subunit of the Set3 complex, which is a meiotic-sp...
    11(a)
    1 → many
    IX(151595-154846) YIL112W


    ENSEMBL Gene Tree for BCOR (if available)
    TreeFam Gene Tree for BCOR (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for BCOR gene
    BARD12  ANKRD112  TONSL2  ANKRD322  ANKRD122  ANKRD312  BCORL12  
    7 SIMAP similar genes for BCOR using alignment to 8 protein entries:     BCOR_HUMAN (see all proteins):
    BCOR-RARA    BCORP1    BCORL1    IkBa    PPP1R12A    DKFZp761E1322
    MTPN

    BCOR for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for BCOR
    PGOHUM00000233784


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

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    Selected SNPs for BCOR (see all 1635)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs289351831,2,4
    Microphthalmia, syndromic, 2 (MCOPS2)4--see VAR_0209212 mis40--------
    rs1817917531,2
    --37694177(+) GCCGCC/TGAGCT 1 -- int10--------
    rs1847210771,2
    --39874957(+) CCAGAA/GGAGCC 2 -- int10--------
    rs78799041,2
    C,F,H--39875141(+) GTCGGC/AGAGCG 2 -- int113Minor allele frequency- A:0.24NS EA NA CSA 1647
    rs1810314401,2
    --39876071(+) ACAACC/TGATGC 2 -- int10--------
    rs1864288941,2
    --39876286(+) CTATTC/TTTTAT 2 -- int10--------
    rs1913255611,2
    --39876370(+) AGGCCA/TCTGGT 2 -- int10--------
    rs1493560051,2
    --39876447(+) GGAAGG/TCTGAA 2 -- int10--------
    rs1813303731,2
    --39876995(+) GGGGTA/GCTGTA 2 -- int10--------
    rs128411081,2
    C,F,H--39877066(+) GGCCAG/ATAAAT 2 -- int1 tfbs38Minor allele frequency- A:0.05NS EA NA 1086

    HapMap Linkage Disequilibrium report for BCOR (39909068 - 40036582 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for BCOR:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2672664CNV Deletion23128226
    esv33829CNV Loss17666407
    esv21995CNV Gain+Loss19812545

    Human Gene Mutation Database (HGMD): BCOR
    Locus Specific Mutation Databases (LSDB): BCOR

    1 Site Specific Mutation Identification with PCR Assay for BCOR:
    Cosmic IdAA Change
    26337p.T322T
    SeqTarget long-range PCR primers for resequencing BCOR
    DNA2.0 Custom Variant and Variant Library Synthesis for BCOR

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 300485   
    OMIM disorders: 300166  
    UniProtKB/Swiss-Prot: BCOR_HUMAN, Q6W2J9
  • Microphthalmia, syndromic, 2 (MCOPS2) [MIM:300166]: A very rare multiple congenital anomaly syndrome
    characterized by eye anomalies (congenital cataract, microphthalmia, or secondary glaucoma), facial abnormalities
    (long narrow face, high nasal bridge, pointed nose with cartilages separated at the tip, cleft palate, or
    submucous cleft palate), cardiac anomalies (atrial septal defect, ventricular septal defect, or floppy mitral
    valve) and dental abnormalities (canine radiculomegaly, delayed dentition, oligodontia, persistent primary teeth,
    or variable root length). Microphthalmia is a disorder of eye formation, ranging from small size of a single eye
    to complete bilateral absence of ocular tissues (anophthalmia). In many cases, microphthalmia/anophthalmia occurs
    in association with syndromes that include non-ocular abnormalities. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • Selected diseases for BCOR (see all 23):    
    About MalaCards
    bcor-related lenz microphthalmia syndrome    oculofaciocardiodental syndrome    lenz microphthalmia syndrome    dextrocardia
    radioulnar synostosis    synostosis    microphthalmia    ventricular septal defect
    coloboma    acute promyelocytic leukemia    microcephaly    cleft palate
    cataract    mental retardation    glaucoma    acute myeloid leukemia
    myeloid leukemia    ataxia    leukemia    sarcoma

    2 diseases from the University of Copenhagen DISEASES database for BCOR:
    Microphthalmia     Coloboma

    BCOR for disorders           About GeneDecksing

    3 Novoseek inferred disease relationships for BCOR gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    ofcd syndrome 98.3 10 19367324 (3), 15770227 (3), 16943429 (1)
    microphthalmia 83.1 10 15770227 (4), 19367324 (3), 17033686 (1)
    mental retardation 55.7 1 19367324 (1)

    GeneTests: BCOR
    GeneReviews: BCOR

    Export disorders for BCOR gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for BCOR gene, integrated from 10 sources (see all 57):
    (articles sorted by number of sources associating them with BCOR)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. BCoR, a novel corepressor involved in BCL-6 repression. (PubMed id 10898795)1, 2, 3, 9 Huynh K.D.... Bardwell V.J. (Genes Dev. 2000)
    2. Polycomb group and SCF ubiquitin ligases are found in a novel BCOR complex that is recruited to BCL6 targets. (PubMed id 16943429)1, 2, 9 Gearhart M.D.... Bardwell V.J. (Mol. Cell. Biol. 2006)
    3. Structure of the polycomb group protein PCGF1 in complex with BCOR reveals basis for binding selectivity of PCGF homologs. (PubMed id 23523425)1, 2 Junco S.E....Kim C.A. (Structure 2013)
    4. BCOR regulates mesenchymal stem cell function by epigenetic mechanisms. (PubMed id 19578371)1, 2 Fan Z....Wang C.-Y. (Nat. Cell Biol. 2009)
    5. Structure of a BCOR corepressor peptide in complex with the BCL6 BTB domain dimer. (PubMed id 18280243)1, 2 Ghetu A.F....Prive G.G. (Mol. Cell 2008)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    7. Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR. (PubMed id 15004558)1, 2 Ng D....Biesecker L.G. (Nat. Genet. 2004)
    8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    9. Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10997877)1, 2 Nagase T.... Ohara O. (DNA Res. 2000)
    10. BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects. (PubMed id 19367324)1, 9 Hilton E....Black G. (Eur. J. Hum. Genet. 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

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    Entrez Gene: 54880 HGNC: 20893 AceView: BCOR Ensembl:ENSG00000183337 euGenes: HUgn54880
    ECgene: BCOR H-InvDB: BCOR

    (According to HUGE)
    About This Section

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    HUGE: KIAA1575

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for BCOR Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=BCOR[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for BCOR gene:
    Search GeneIP for patents involving BCOR

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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