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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

BCOR Gene

protein-coding   GIFtS: 60
GCID: GC0XM039909

BCL6 corepressor

(Previous name: BCL6 co-repressor )
 Explore 19 diseases affiliated with
BCOR via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for BCOR    

Aliases
for BCOR gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
BCL6 Corepressor1 2     MCOPS22 5
KIAA15751 3 5     FLJ202851
BCL6 Co-Repressor1 2     BCL-6 Corepressor2
ANOP22 5     BCL-6 Interacting Corepressor2
MAA22 5     BCoR3

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


Summaries
for BCOR gene

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

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000023.10  NC_018934.1  NT_079573.4  
Regulatory elements:
   SABiosciences 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 plasmid: BCOR promoter sequence
   Search SABiosciences Chromatin IP Primers for BCOR

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for BCOR gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: BCOR_HUMAN, Q6W2J9 (See protein sequence)
Recommended Name: BCL-6 corepressor  
Size: 1755 amino acids; 192189 Da
Subunit: Isoform 1 may interact with MLLT3/AF9 (By similarity). Interacts with BCL6; the interaction is direct. 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
Subcellular location: Nucleus
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; Sequence=BAB85037.1; Type=Frameshift; Positions=1353;
1 PDB 3D structure from and Proteopedia for BCOR:
3BIM (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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q6W2J9

    • BCOR Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

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

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    OriGene Purified Protein: BCOR
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    Novus Biologicals BCOR Proteins
    Novus Biologicals BCOR Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for BCOR

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

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


    BCOR for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for BCOR

    Protein Domains /
    Families
    for BCOR gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    BCOR for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR020683 Ankyrin_rpt-contain_dom
     IPR002110 Ankyrin_rpt

    Graphical View of Domain Structure for InterPro Entry Q6W2J9

    ProtoNet protein and cluster: Q6W2J9

    1 Blocks protein family: IPB002110 Ankyrin repeat signature

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


    Function
    for BCOR gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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)

    miRNA
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    8/37 QIAGEN miScript miRNA 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 plasmid: BCOR 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for BCOR (see all 4)
    OriGene shRNA RFP: BCOR
    OriGene siRNA: BCOR
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat BCOR

    Gene Editing
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    Clone
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    In Situ Assay
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    Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (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 IPI16943429
    GO:0008134transcription factor binding IPI10898795
    GO:0031072heat shock protein binding IDA16943429


    BCOR for ontologies           About GeneDecksing


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

    Animal Models:
         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


    Pathways & Interactions
    for BCOR gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Signaling events mediated by HDAC Class II
    		Signaling events mediated by HDAC Class II1.00


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


    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for BCOR

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

    5/27 Interacting proteins for BCOR (Q6W2J91, 2, 3 ENSP000003677054) via UniProtKB, MINT, STRING, and/or I2D (see all 27)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    KDM2BQ8NHM51, 3, ENSP000003662714EBI-950027,EBI-3955564 I2D: score=3 STRING: ENSP00000366271
    PCGF1Q9BSM11, 3, ENSP000002336304EBI-950027,EBI-749901 I2D: score=1 STRING: ENSP00000233630
    USP7Q930092, 3, ENSP000003435354MINT-2873901 I2D: score=3 STRING: ENSP00000343535
    MLLT3P425683, ENSP000003696954I2D: score=3 STRING: ENSP00000369695
    RNF2Q994963, ENSP000003564804I2D: score=3 STRING: ENSP00000356480
    About this table

    Gene Ontology (GO): 5/12 biological process terms (GO ID links to tree view) (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-dependent IEA--
    GO:0007507heart development IMP17517692
    GO:0030502negative regulation of bone mineralization IMP19578371


    BCOR for ontologies           About GeneDecksing



    Drugs & Compounds
    for BCOR gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for BCOR
    Search CenterWatch for drugs/clinical trials and news about BCOR 

    Transcripts
    for BCOR gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    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 ENST00000378455(uc004deo.4) ENST00000397354(uc010nhb.3 uc004dem.4)
    ENST00000378444(uc004den.4) ENST00000442018 ENST00000427012 ENST00000406200
    ENST00000490976(uc004deq.4) ENST00000412952 ENST00000342274(uc004dep.4)


    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat BCOR
    8/37 QIAGEN miScript miRNA 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 plasmid: BCOR 3' UTR sequence
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for BCOR (see all 4)
    OriGene shRNA RFP: BCOR
    OriGene siRNA: BCOR
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat BCOR
    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 4): BCOR (NM_001123384)
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    Primer
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat BCOR

    Additional cDNA 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 

    24/115 AceView cDNA sequences (see all 115):

    AI674453 BG117044 AJ706599 AI680086 AW969328 AI005244 AI453300 AL044059 
    AK095360 AA806538 AW071020 AA442151 AA535437 AL044058 AI682375 BE792825 
    CD628545 AW502817 BF793183 BG390446 BM802764 AI635681 BQ879529 BP355895 

    GeneLoc Exon Structure

    5/6 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

    Expression
    for BCOR gene

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    BCOR expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: ACTGTAGAGT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    BCOR expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    BrainHypothalamusBrain
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See BCOR Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for BCOR

    SOURCE GeneReport for Unigene cluster: Hs.659681

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

        SABiosciences Expression via Pathway-Focused PCR Array including BCOR: 
              Ubiquitin Ligases in human mouse rat

    Primer
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    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BCOR

    Orthologs
    for BCOR gene

    (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)
    About This Section
    This gene was present in the common ancestor of animals.

    Orthologs for BCOR gene from 4/15 species (see all 15)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves BCOR1 BCL6 corepressor 72.57(n)
    71.51(a)    		   418574  XM_003640508.1  XP_003640556.1 
    lizard
    (Anolis carolinensis)    		 Reptilia BCOR6
    		 --
    		 68(a)
    		 1 ↔ 1
    		 3(133399740-133444342)
    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
    		 --
    		 11(a)
    		 1 → many
    		 3L(18795365-18813775)


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

    Paralogs
    for BCOR gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for BCOR gene
    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


    Genomic Variants
    for BCOR gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1257 NCBI SNPs in BCOR are shown (see all 1257)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr X posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs78799041,2
    		C,F,H,--37695205(+) GTCGGC/AGAGCG 1 -- int113Minor allele frequency- A:0.24NS EA NA CSA 1647
    rs128330601,2
    		C--37697302(+) CATGAG/TTGGTG 1 -- ut511Minor allele frequency- T:0.00NA 2
    rs66103851,2
    		C,H--37698548(+) TCCTAG/ACAACC 1 -- int16Minor allele frequency- A:0.00NS EA NA 422
    rs1908729881,2
    		--39910101(+) AAGGCC/TGGCTC 4 -- ds50010--------
    rs1830855291,2
    		--39910620(+) CACACA/GATTCA 4 -- ut310--------
    rs1863833771,2
    		--39910763(+) ACAATC/TCGGTT 4 -- ut310--------
    rs1906006081,2
    		--39910775(+) GATGCA/GTGAAA 4 -- ut310--------
    rs1832005361,2
    		--39911026(+) TTGTAC/TGAAAT 4 -- ut310--------
    rs2010027641,2
    		--39911390(+) GATCAC/GTGGGG 8 T S mis10--------
    rs2001639301,2
    		C--39911528(+) CAGAAA/CCCTGC 8 G V mis10--------

    HapMap Linkage Disequilibrium report for BCOR (39909068 - 40036582 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 4 variations for BCOR
         4 CNVs: 73961 83472 7785 73960
    Human Gene Mutation Database (HGMD): BCOR

    Locus Specific Mutation Databases (LSDB): BCOR

    1 SABiosciences Cancer Mutation PCR Assay for BCOR:
    Cosmic IdAA Change
    26337p.T322T
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing BCOR
    DNA2.0 Custom Variant and Variant Library Synthesis for BCOR

    Disorders / Diseases
    for BCOR gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    BCOR for disorders           About GeneDecksing

    OMIM gene information: 300485   
    OMIM disorders: 300166  
    UniProtKB/Swiss-Prot: BCOR_HUMAN, Q6W2J9
  • Defects in BCOR are the cause of microphthalmia syndromic type 2 (MCOPS2) [MIM:300166]. Microphthalmia is a
    • clinically heterogeneous 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. MCOPS2 is 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)

    19 diseases for BCOR:    About MalaCards
    lenz microphthalmia syndrome    radioulnar synostosis    oculofaciocardiodental syndrome    microphthalmia
    oligodontia    dextrocardia    acute promyelocytic leukemia    congenital cataracts
    acute myeloid leukemia    synostosis    anophthalmia    myeloid leukemia
    cataract    coloboma    glaucoma    microcephaly
    leukemia    ataxia    sarcoma

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

    3 Novoseek 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
    Lenz Microphthalmia Syndrome


    Export disorders for BCOR gene to outside databases

    Publications
    for BCOR gene

    (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)
    About This Section

    PubMed articles for BCOR gene, integrated from 9 sources (see all 49):
    (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. (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. (2006)
    3. BCOR regulates mesenchymal stem cell function by epigenetic mechanisms. (PubMed id 19578371)1, 2 Fan Z....Wang C.-Y. (2009)
    4. 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. (2008)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    6. Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR. (PubMed id 15004558)1, 2 Ng D....Biesecker L.G. (2004)
    7. 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. (2004)
    8. 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. (2000)
    9. Novel mutations in BCOR in three patients with oculo-facio-cardio-dental syndrome, but none in Lenz microphthalmia syndrome. (PubMed id 15770227)1, 9 Horn D....Kutsche K. (2005)
    10. PCGF homologs, CBX proteins, and RYBP define functiona lly distinct PRC1 family complexes. (PubMed id 22325352)1 Gao Z....Reinberg D. (2012)

    External Searches for BCOR gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing BCOR gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 54880 HGNC: 20893 AceView: BCOR Ensembl:ENSG00000183337 euGenes: HUgn54880
    ECgene: BCOR H-InvDB: BCOR

    Other Databases showing BCOR gene

    (According to HUGE)
    About This Section
    HUGE: KIAA1575

    Specialized Databases showing BCOR gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for BCOR Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/BCOR

    Intellectual Property
    for BCOR gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		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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    About This Section

     
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