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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
  • BCL-6 Corepressor 3
  • 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]

CIViC summary for BCOR Gene

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 Ectoderm Differentiation and Pathways Affected in Adenoid Cystic Carcinoma. Gene Ontology (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

Additional gene information 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

GeneHancer (GH) Regulatory Elements for BCOR Gene

Promoters and enhancers for BCOR Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH0XI040166 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 562.7 +4.9 4915 11.8 PKNOX1 FOXA2 SMAD1 ARNT ARID4B FEZF1 DMAP1 ZNF2 YY1 POLR2B BCOR LOC105373181 CXorf38 ATP6AP2
GH0XI040091 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 566.5 +81.2 81244 9.7 PKNOX1 SMAD1 ARNT SIN3A FEZF1 ZNF2 IRF4 YY1 POLR2B ZNF263 BCOR GC0XM040100 GC0XM040099 GC0XM040010
GH0XI039893 Enhancer 1.3 Ensembl ENCODE dbSUPER 63.1 +281.1 281052 4.9 ZFP64 SIN3A ZNF121 ZNF213 FOS RUNX3 ZNF202 ZC3H11A REST ZNF623 BCOR MED14 CXorf38 PIR53061 RPS11P7
GH0XI041083 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 28.3 -909.1 -909134 6.1 MLX FEZF1 DMAP1 IRF4 YY1 ZNF213 E2F8 ZNF143 ZNF548 SP3 USP9X CASK-AS1 BCOR DDX3X MED14 CXorf38 GC0XP041123
GH0XI040793 Enhancer 1.1 Ensembl ENCODE 25.7 -617.1 -617100 1.7 ATF1 ZNF2 GLIS2 ZNF213 RUNX3 SP3 REST ZNF592 ATF4 ZSCAN16 BCOR MED14 CASK-AS1 DDX3X GC0XP040796 LOC100129851
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around BCOR on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the BCOR gene promoter:

Genomic Locations for BCOR Gene

Genomic Locations for BCOR Gene
chrX:40,049,815-40,177,390
(GRCh38/hg38)
Size:
127,576 bases
Orientation:
Minus strand
chrX:39,909,068-40,036,582
(GRCh37/hg19)

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 approximately 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

Post-translational modifications for BCOR Gene

  • Ubiquitination at posLast=872872 and Lys1104
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Abcam antibodies for BCOR
  • Santa Cruz Biotechnology (SCBT) Antibodies for BCOR

No data available for DME Specific Peptides for BCOR Gene

Domains & Families for BCOR Gene

Gene Families for BCOR Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Predicted intracellular proteins

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.
Family:
  • Belongs to the BCOR family.
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).

Phenotypes From GWAS Catalog for BCOR Gene

Gene Ontology (GO) - Molecular Function for BCOR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IEA --
GO:0003714 transcription corepressor activity IMP 15878880
GO:0004842 contributes_to ubiquitin-protein transferase activity IDA 16943429
GO:0005515 protein binding IPI 10898795
GO:0008134 transcription factor binding IPI 10898795
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

Clone 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for BCOR gene
Compartment Confidence
nucleus 5
cytosol 2
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for BCOR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA,IEA 10898795
GO:0031519 colocalizes_with PcG protein complex IDA 16943429
genes like me logo Genes that share ontologies with BCOR: view

Pathways & Interactions for BCOR Gene

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

Gene Ontology (GO) - Biological Process for BCOR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IMP 19578371
GO:0000415 negative regulation of histone H3-K36 methylation IMP 19578371
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0007507 heart development IMP 17517692
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:

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for BCOR Gene



Protein tissue co-expression partners for BCOR Gene

NURSA nuclear receptor signaling pathways regulating expression of BCOR Gene:

BCOR

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.

Evidence on tissue expression from TISSUES for BCOR Gene

  • Nervous system(4.4)
  • Liver(4.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for BCOR Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • middle ear
  • mouth
  • neck
  • nose
  • outer ear
  • pharynx
  • skull
  • tooth
Thorax:
  • aorta
  • chest wall
  • clavicle
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • intestine
  • kidney
  • large intestine
  • stomach
Pelvis:
  • anus
  • pelvis
  • penis
  • rectum
  • testicle
  • ureter
  • urethra
  • urinary bladder
  • vagina
Limb:
  • arm
  • digit
  • finger
  • foot
  • forearm
  • hand
  • humerus
  • lower limb
  • radius
  • shoulder
  • toe
  • ulna
  • upper limb
General:
  • blood
  • blood vessel
  • hair
  • peripheral nervous system
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with BCOR: view

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
chimpanzee
(Pan troglodytes)
Mammalia BCOR 33 34
  • 99.55 (n)
dog
(Canis familiaris)
Mammalia BCOR 33 34
  • 89.22 (n)
cow
(Bos Taurus)
Mammalia BCOR 33 34
  • 88.41 (n)
mouse
(Mus musculus)
Mammalia Bcor 33 16 34
  • 87.94 (n)
rat
(Rattus norvegicus)
Mammalia Bcor 33
  • 87.75 (n)
oppossum
(Monodelphis domestica)
Mammalia BCOR 34
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia BCOR 34
  • 71 (a)
OneToOne
chicken
(Gallus gallus)
Aves BCOR 33 34
  • 72.51 (n)
lizard
(Anolis carolinensis)
Reptilia BCOR 34
  • 70 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia bcor 33
  • 62.07 (n)
zebrafish
(Danio rerio)
Actinopterygii bcor 33 34
  • 52.06 (n)
Dr.16163 33
fruit fly
(Drosophila melanogaster)
Insecta CG14073 34
  • 13 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes HOS4 34
  • 11 (a)
OneToMany
Species where no ortholog for BCOR was found in the sources mined by GeneCards:
  • 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 Variation AA Info Type
rs1041380012 uncertain-significance, Oculofaciocardiodental syndrome 40,073,180(-) C/G coding_sequence_variant, missense_variant
rs113588421 benign, Oculofaciocardiodental syndrome 40,052,340(-) T/A/C 3_prime_UTR_variant, coding_sequence_variant, missense_variant, synonymous_variant
rs121434618 pathogenic, Oculofaciocardiodental syndrome, Microphthalmia, syndromic, 2 (MCOPS2) [MIM:300166] 40,075,092(-) G/A/C coding_sequence_variant, missense_variant
rs121434619 pathogenic, Oculofaciocardiodental syndrome 40,072,420(-) G/A coding_sequence_variant, stop_gained
rs140693978 uncertain-significance, benign, not specified, Oculofaciocardiodental syndrome 40,073,147(-) C/A/T coding_sequence_variant, synonymous_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
esv3573890 CNV loss 25503493
nsv1077224 CNV deletion 25765185
nsv1113037 CNV deletion 24896259
nsv1126945 CNV deletion 24896259

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)

Additional Variant Information for BCOR Gene

Human Gene Mutation Database (HGMD)
BCOR
SNPedia medical, phenotypic, and genealogical associations of SNPs for
BCOR

SNP Genotyping and Copy Number Assay Products

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

Disorders for BCOR Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
microphthalmia, syndromic 2
  • mcops2
microphthalmia, syndromic 1
  • mcops1
kidney clear cell sarcoma
  • childhood kidney clear cell sarcoma
myxoid leiomyosarcoma
  • leiomyosarcoma, myxoid
microphthalmia
  • microphthalmos
- 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.

Additional Disease Information for 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 KD … Bardwell VJ (Genes & development 2000) 2 3 4 22 58
  2. Polycomb group and SCF ubiquitin ligases are found in a novel BCOR complex that is recruited to BCL6 targets. (PMID: 16943429) Gearhart MD … Bardwell VJ (Molecular and cellular biology 2006) 3 4 22 58
  3. The variant Polycomb Repressor Complex 1 component PCGF1 interacts with a pluripotency sub-network that includes DPPA4, a regulator of embryogenesis. (PMID: 26687479) Oliviero G … Cagney G (Scientific reports 2015) 3 4 58
  4. Structure of the polycomb group protein PCGF1 in complex with BCOR reveals basis for binding selectivity of PCGF homologs. (PMID: 23523425) Junco SE … Kim CA (Structure (London, England : 1993) 2013) 3 4 58
  5. A hybrid mechanism of action for BCL6 in B cells defined by formation of functionally distinct complexes at enhancers and promoters. (PMID: 23911289) Hatzi K … Melnick A (Cell reports 2013) 3 4 58

Products for BCOR Gene

Sources for BCOR Gene

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