BCOR
BCL-6 corepressor
Also known as: BCOR_HUMAN, FLJ20285, KIAA1575
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q6W2J9
- Gene
- BCOR
- Ensembl
- ENSG00000183337
- Chromosome
- X
- Canonical length
- 1755 aa
- Protein class
- Cancer-related genes, Disease related genes, Human disease related genes, Predicted intracellular proteins
- Subcellular location
- Nucleoplasm
OverviewNCBI 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]
Canonical amino-acid sequenceUniProt
1755 residues, UniProt reviewed canonical sequence.
>Q6W2J9|BCOR
1 MLSATPLYGN VHSWMNSERV RMCGASEDRK ILVNDGDASK ARLELREENP LNHNVVDAST
61 AHRIDGLAAL SMDRTGLIRE GLRVPGNIVY SSLCGLGSEK GREAATSTLG GLGFSSERNP
121 EMQFKPNTPE TVEASAVSGK PPNGFSAIYK TPPGIQKSAV ATAEALGLDR PASDKQSPLN
181 INGASYLRLP WVNPYMEGAT PAIYPFLDSP NKYSLNMYKA LLPQQSYSLA QPLYSPVCTN
241 GERFLYLPPP HYVGPHIPSS LASPMRLSTP SASPAIPPLV HCADKSLPWK MGVSPGNPVD
301 SHAYPHIQNS KQPRVPSAKA VTSGLPGDTA LLLPPSPRPS PRVHLPTQPA ADTYSEFHKH
361 YARISTSPSV ALSKPYMTVS SEFPAARLSN GKYPKAPEGG EGAQPVPGHA RKTAVQDRKD
421 GSSPPLLEKQ TVTKDVTDKP LDLSSKVVDV DASKADHMKK MAPTVLVHSR AGSGLVLSGS
481 EIPKETLSPP GNGCAIYRSE IISTAPSSWV VPGPSPNEEN NGKSMSLKNK ALDWAIPQQR
541 SSSCPRMGGT DAVITNVSGS VSSAGRPASA SPAPNANADG TKTSRSSVET TPSVIQHVGQ
601 PPATPAKHSS STSSKGAKAS NPEPSFKANE NGLPPSSIFL SPNEAFRSPP IPYPRSYLPY
661 PAPEGIAVSP LSLHGKGPVY PHPVLLPNGS LFPGHLAPKP GLPYGLPTGR PEFVTYQDAL
721 GLGMVHPMLI PHTPIEITKE EKPERRSRSH ERARYEDPTL RNRFSEILET SSTKLHPDVP
781 TDKNLKPNPN WNQGKTVVKS DKLVYVDLLR EEPDAKTDTN VSKPSFAAES VGQSAEPPKP
841 SVEPALQQHR DFIALREELG RISDFHETYT FKQPVFTVSK DSVLAGTNKE NLGLPVSTPF
901 LEPPLGSDGP AVTFGKTQED PKPFCVGSAP PSVDVTPTYT KDGADEAESN DGKVLKPKPS
961 KLAKRIANSA GYVGDRFKCV TTELYADSSQ LSREQRALQM EGLQEDSILC LPAAYCERAM
1021 MRFSELEMKE REGGHPATKD SEMCKFSPAD WERLKGNQDK KPKSVTLEEA IAEQNESERC
1081 EYSVGNKHRD PFEAPEDKDL PVEKYFVERQ PVSEPPADQV ASDMPHSPTL RVDRKRKVSG
1141 DSSHTETTAE EVPEDPLLKA KRRRVSKDDW PEREMTNSSS NHLEDPHYSE LTNLKVCIEL
1201 TGLHPKKQRH LLHLRERWEQ QVSAADGKPG RQSRKEVTQA TQPEAIPQGT NITEEKPGRK
1261 RAEAKGNRSW SEESLKPSDN EQGLPVFSGS PPMKSLSSTS AGGKKQAQPS CAPASRPPAK
1321 QQKIKENQKT DVLCADEEED CQAASLLQKY TDNSEKPSGK RLCKTKHLIP QESRRGLPLT
1381 GEYYVENADG KVTVRRFRKR PEPSSDYDLS PAKQEPKPFD RLQQLLPASQ STQLPCSSSP
1441 QETTQSRPMP PEARRLIVNK NAGETLLQRA ARLGYEEVVL YCLENKICDV NHRDNAGYCA
1501 LHEACARGWL NIVRHLLEYG ADVNCSAQDG TRPLHDAVEN DHLEIVRLLL SYGADPTLAT
1561 YSGRTIMKMT HSELMEKFLT DYLNDLQGRN DDDASGTWDF YGSSVCEPDD ESGYDVLANP
1621 PGPEDQDDDD DAYSDVFEFE FSETPLLPCY NIQVSVAQGP RNWLLLSDVL KKLKMSSRIF
1681 RCNFPNVEIV TIAEAEFYRQ VSASLLFSCS KDLEAFNPES KELLDLVEFT NEIQTLLGSS
1741 VEWLHPSDLA SDNYWLocalizationUniProt · AlphaFold · HPA
Whether an antibody against BCOR can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.64
- Highest tissue expression
- 24 nTPM
Expression across tissuesHPA
Tissue
- thymus: 24 nTPM
- bone marrow: 21 nTPM
- blood vessel: 17 nTPM
- thyroid gland: 15 nTPM
- lymph node: 14 nTPM
- skeletal muscle: 14 nTPM
Single-cell type
- esophageal apical cells: 197 nCPM
- hepatocytes: 111 nCPM
- renal collecting duct principal cells: 107 nCPM
- loop of henle epithelial cells: 80 nCPM
- epicardial cells: 80 nCPM
- proximal tubule cells: 80 nCPM
Immune cell
- total PBMC: 8.8 nTPM
- basophil: 4.7 nTPM
- myeloid DC: 4.5 nTPM
- non-classical monocyte: 3.9 nTPM
- gdT-cell: 3.8 nTPM
- intermediate monocyte: 3.6 nTPM
Brain region
- white matter: 18 nTPM
- medulla oblongata: 17 nTPM
- choroid plexus: 16 nTPM
- thalamus: 16 nTPM
- basal ganglia: 15 nTPM
- cerebral cortex: 15 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about BCOR.
Disease | AllUniProt
Conditions BCOR is implicated in, by any mechanism.
- Microphthalmia, syndromic, 2 (MCOPS2) MIM:300166
Disease | GeneticClinVar
120 pathogenic / likely-pathogenic of 941 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Oculofaciocardiodental syndrome
- BCOR-related disorder
- Inborn genetic diseases
- Developmental cataract
- Glioblastoma
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.14
- gnomAD pLI
- 1
- gnomAD missense Z
- 1.88
- DepMap mean gene effect
- -0.05
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- blastocyst hatching
- chromatin remodeling
- heart development
- negative regulation of bone mineralization
- negative regulation of DNA-templated transcription
- negative regulation of tooth mineralization
- negative regulation of transcription by RNA polymerase II
- odontogenesis
- roof of mouth development
- specification of axis polarity
Molecular functions
- DNA-binding transcription factor binding
- heat shock protein binding
- histone deacetylase binding
- RNA polymerase II transcription regulatory region sequence-specific DNA binding
- transcription cis-regulatory region binding
- transcription corepressor activity
Cellular components
- nucleoplasm
- nucleus
- BCOR complex
Protein domainsUniProt · Pfam · InterPro
- Ankyrin repeat
- BCL-6 corepressor, non-ankyrin-repeat domain
- BCL-6 corepressor, PCGF1 binding domain
- Ankyrin repeat-containing domain superfamily
- PCGF Ub-like fold discriminator superfamily
- BCL-6 corepressor-like
- Ankyrin repeats (3 copies)
- BCL-6 co-repressor, non-ankyrin-repeat region
- BCORL-PCGF1-binding domain
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of BCOR in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads BCOR as an antibody target. Whether an autoantibody or antibody against BCOR could matter depends on whether native BCOR is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
BCOR is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label BCOR as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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