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Aliases for BCOR Gene

Aliases for BCOR Gene

  • BCL6 Corepressor 2 3 5
  • BCL-6 Interacting Corepressor 3
  • BCL6 Co-Repressor 2
  • KIAA1575 4
  • MCOPS2 3
  • ANOP2 3
  • MAA2 3
  • BCoR 4

External Ids for BCOR Gene

Previous GeneCards Identifiers for BCOR Gene

  • GC0XM038755
  • GC0XM038941
  • GC0XM039666
  • GC0XM039794
  • GC0XM039909
  • GC0XM037648

Summaries for BCOR Gene

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 microphthalmia, syndromic 2 and microphthalmia, syndromic 1. Among its related pathways are Signaling events mediated by HDAC Class II. GO annotations related to this gene include transcription factor binding and transcription regulatory region DNA binding. An important paralog of this gene is BCORL1.

UniProtKB/Swiss-Prot for BCOR Gene

  • 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BCOR Gene

Genomics for BCOR Gene

Regulatory Elements for BCOR Gene

Promoters for BCOR Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around BCOR on UCSC Golden Path with GeneCards custom track

Genomic Location for BCOR Gene

Chromosome:
X
Start:
40,049,815 bp from pter
End:
40,177,390 bp from pter
Size:
127,576 bases
Orientation:
Minus strand

Genomic View for BCOR Gene

Genes around BCOR on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BCOR Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BCOR Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BCOR Gene

Proteins for BCOR Gene

  • Protein details for BCOR Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6W2J9-BCOR_HUMAN
    Recommended name:
    BCL-6 corepressor
    Protein Accession:
    Q6W2J9
    Secondary Accessions:
    • D3DWB3
    • D3DWB4
    • Q29RF6
    • Q6P4B6
    • Q7Z2K7
    • Q8TEB4
    • Q96DB3
    • Q9H232
    • Q9H233
    • Q9HCJ7
    • Q9NXF2

    Protein attributes for BCOR Gene

    Size:
    1755 amino acids
    Molecular mass:
    192189 Da
    Quaternary structure:
    • Interacts with BCL6; the interaction is direct (PubMed:10898795). Forms ternary complexes with BCL6 and SMRT/NCOR2 on selected target genes promoters; potently repress expression (PubMed:23911289, PubMed:18280243). Can interact with HDAC1, HDAC3 and HDAC5 (PubMed:10898795). Interacts with PCGF1; the interaction is direct (PubMed:16943429, PubMed:23523425, PubMed:26687479). 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 (PubMed:16943429). Interacts with CPNE4 (via VWFA domain) (By similarity). Isoform 1 may interact with MLLT3/AF9 (By similarity).
    SequenceCaution:
    • Sequence=AAH63536.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Presence of complementary strand sequence in the clone.; Evidence={ECO:0000305}; Sequence=BAA91061.1; Type=Miscellaneous discrepancy; Note=Intron retention.; Evidence={ECO:0000305}; Sequence=BAB13401.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=BAB85037.1; Type=Frameshift; Positions=1353; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for BCOR Gene

    Alternative splice isoforms for BCOR Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for BCOR Gene

Proteomics data for BCOR Gene at MOPED

Post-translational modifications for BCOR Gene

  • Ubiquitination at Lys 872 and Lys 1104
  • Modification sites at PhosphoSitePlus

Antibody Products

No data available for DME Specific Peptides for BCOR Gene

Domains & Families for BCOR Gene

Gene Families for BCOR Gene

Protein Domains for BCOR Gene

Suggested Antigen Peptide Sequences for BCOR Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q6W2J9

UniProtKB/Swiss-Prot:

BCOR_HUMAN :
  • Belongs to the BCOR family.
  • Contains 3 ANK repeats.
Family:
  • Belongs to the BCOR family.
Similarity:
  • Contains 3 ANK repeats.
genes like me logo Genes that share domains with BCOR: view

Function for BCOR Gene

Molecular function for BCOR Gene

UniProtKB/Swiss-Prot 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) - Molecular Function for BCOR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003714 transcription corepressor activity IMP 15878880
GO:0004842 contributes_to ubiquitin-protein transferase activity IDA 16943429
GO:0008134 transcription factor binding IPI 10898795
GO:0044212 transcription regulatory region DNA binding IMP 19578371
genes like me logo Genes that share ontologies with BCOR: view
genes like me logo Genes that share phenotypes with BCOR: view

Human Phenotype Ontology for BCOR Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for BCOR Gene

Localization for BCOR Gene

Subcellular locations from UniProtKB/Swiss-Prot for BCOR Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for BCOR Gene COMPARTMENTS Subcellular localization image for BCOR gene
Compartment Confidence
nucleus 5
mitochondrion 4
cytosol 2
golgi apparatus 1

No data available for Gene Ontology (GO) - Cellular Components for BCOR Gene

Pathways & Interactions for BCOR Gene

genes like me logo Genes that share pathways with BCOR: view

Pathways by source for BCOR Gene

1 BioSystems pathway for BCOR Gene

Gene Ontology (GO) - Biological Process for BCOR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000415 negative regulation of histone H3-K36 methylation IMP 19578371
GO:0007507 heart development IMP 17517692
GO:0030502 negative regulation of bone mineralization IMP 19578371
GO:0042476 odontogenesis IMP 17517692
GO:0051572 negative regulation of histone H3-K4 methylation IMP 19578371
genes like me logo Genes that share ontologies with BCOR: view

No data available for SIGNOR curated interactions for BCOR Gene

Drugs & Compounds for BCOR Gene

No Compound Related Data Available

Transcripts for BCOR Gene

Unigene Clusters for BCOR Gene

BCL6 corepressor:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for BCOR Gene

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: -
SP6:

Relevant External Links for BCOR Gene

GeneLoc Exon Structure for
BCOR
ECgene alternative splicing isoforms for
BCOR

Expression for BCOR Gene

mRNA expression in normal human tissues for BCOR Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for BCOR Gene

This gene is overexpressed in Serum (30.9) and Heart (23.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for BCOR Gene



SOURCE GeneReport for Unigene cluster for BCOR Gene Hs.659681

mRNA Expression by UniProt/SwissProt for BCOR Gene

Q6W2J9-BCOR_HUMAN
Tissue specificity: Ubiquitously expressed.
genes like me logo Genes that share expression patterns with BCOR: view

Protein tissue co-expression partners for BCOR Gene

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for BCOR Gene

Orthologs for BCOR Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for BCOR Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia BCOR 35
  • 88.41 (n)
  • 90.76 (a)
BCOR 36
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia BCOR 35
  • 89.22 (n)
  • 93.04 (a)
BCOR 36
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Bcor 35
  • 87.94 (n)
  • 89.1 (a)
Bcor 16
Bcor 36
  • 89 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia BCOR 35
  • 99.55 (n)
  • 99.65 (a)
BCOR 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Bcor 35
  • 87.75 (n)
  • 89.04 (a)
oppossum
(Monodelphis domestica)
Mammalia BCOR 36
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia BCOR 36
  • 71 (a)
OneToOne
chicken
(Gallus gallus)
Aves BCOR 35
  • 72.51 (n)
  • 71.4 (a)
BCOR 36
  • 67 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia BCOR 36
  • 70 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia bcor 35
  • 62.07 (n)
  • 56.61 (a)
zebrafish
(Danio rerio)
Actinopterygii bcor 35
  • 52.06 (n)
  • 45.44 (a)
Dr.16163 35
bcor 36
  • 39 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG14073 36
  • 13 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes HOS4 36
  • 11 (a)
OneToMany
Species with no ortholog for BCOR:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for BCOR Gene

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

Paralogs for BCOR Gene

Paralogs for BCOR Gene

Pseudogenes.org Pseudogenes for BCOR Gene

genes like me logo Genes that share paralogs with BCOR: view

Variants for BCOR Gene

Sequence variations from dbSNP and Humsavar for BCOR Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type
VAR_020921 Microphthalmia, syndromic, 2 (MCOPS2)
rs1388717 -- 40,060,632(+) ATCAT(A/G)CGTAG intron-variant
rs3749422 -- 40,073,316(-) CAAAG(A/G)ACCTG reference, missense
rs3810693 -- 40,072,655(-) GTCTC(A/C/G/T)ACTCC reference, synonymous-codon
rs3810694 -- 40,063,106(-) TCCCA(C/T)CCGCC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for BCOR Gene

Variant ID Type Subtype PubMed ID
esv21995 CNV Gain+Loss 19812545
esv2672664 CNV Deletion 23128226
esv33829 CNV Loss 17666407

Variation tolerance for BCOR Gene

Residual Variation Intolerance Score: 0.592% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.32; 41.44% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for BCOR Gene

HapMap Linkage Disequilibrium report
BCOR
Human Gene Mutation Database (HGMD)
BCOR

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BCOR Gene

Disorders for BCOR Gene

MalaCards: The human disease database

(12) MalaCards diseases for BCOR Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
microphthalmia, syndromic 2
  • oculofaciocardiodental syndrome
microphthalmia, syndromic 1
  • lenz microphthalmia syndrome
bcor-related lenz microphthalmia syndrome
  • anop2
microphthalmia
  • microphthalmos
clear cell sarcoma
  • adult soft part clear cell sarcoma
- elite association - COSMIC cancer census association via MalaCards
Search BCOR in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

BCOR_HUMAN
  • 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. {ECO:0000269 PubMed:15004558}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for BCOR

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
BCOR
genes like me logo Genes that share disorders with BCOR: view

No data available for Genatlas for BCOR Gene

Publications for BCOR Gene

  1. BCoR, a novel corepressor involved in BCL-6 repression. (PMID: 10898795) Huynh K.D. … Bardwell V.J. (Genes Dev. 2000) 2 3 4 23 67
  2. BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects. (PMID: 19367324) Hilton E. … Black G. (Eur. J. Hum. Genet. 2009) 3 23
  3. Polycomb group and SCF ubiquitin ligases are found in a novel BCOR complex that is recruited to BCL6 targets. (PMID: 16943429) Gearhart M.D. … Bardwell V.J. (Mol. Cell. Biol. 2006) 3 23
  4. Novel mutations in BCOR in three patients with oculo-facio-cardio-dental syndrome, but none in Lenz microphthalmia syndrome. (PMID: 15770227) Horn D. … Kutsche K. (Eur. J. Hum. Genet. 2005) 3 23
  5. The FBXL10/KDM2B scaffolding protein associates with novel polycomb repressive complex-1 to regulate adipogenesis. (PMID: 25533466) Inagaki T. … Sakai J. (J. Biol. Chem. 2015) 3

Products for BCOR Gene

Sources for BCOR Gene

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