BCL-6 corepressor

BCL-6 corepressor is a protein that in humans is encoded by the BCOR gene.^[5][6]

BCOR
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 3BIM, 4HPL, 2N1L
Identifiers
Aliases	BCOR, ANOP2, MAA2, MCOPS2, BCL6 corepressor
External IDs	OMIM: 300485; MGI: 1918708; HomoloGene: 9809; GeneCards: BCOR; OMA:BCOR - orthologs
Gene location (Human) Chr. X chromosome (human)[1] Band Xp11.4 Start 40,049,815 bp[1] End 40,177,329 bp[1]
Gene location (Mouse) Chr. X chromosome (mouse)[2] Band X|X A1.1 Start 11,902,979 bp[2] End 12,026,594 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in buccal mucosa cell ganglionic eminence ventricular zone gonad tibial arteries gastrocnemius muscle muscle of thigh left ovary islet of Langerhans Descending thoracic aorta Top expressed in hand tail of embryo otolith organ ascending aorta utricle submandibular gland aortic valve gastrula lymph node superior cervical ganglion More reference expression data BioGPS More reference expression data
Gene ontology Molecular function heat shock protein binding transcription factor binding histone deacetylase binding ubiquitin-protein transferase activity protein binding transcription corepressor activity RNA polymerase II transcription regulatory region sequence-specific DNA binding Cellular component PcG protein complex nucleus BCOR complex Biological process roof of mouth development negative regulation of bone mineralization regulation of transcription, DNA-templated negative regulation of histone H3-K36 methylation histone H2A monoubiquitination negative regulation of tooth mineralization transcription, DNA-templated odontogenesis specification of axis polarity heart development negative regulation of histone H3-K4 methylation negative regulation of transcription, DNA-templated negative regulation of transcription by RNA polymerase II chromatin organization blastocyst hatching Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 54880 71458 Ensembl ENSG00000183337 ENSMUSG00000040363 UniProt Q6W2J9 Q8CGN4 RefSeq (mRNA) NM_001123383 NM_001123384 NM_001123385 NM_001130139 NM_017745 NM_020926 NM_001168321 NM_029510 NM_175044 NM_175045 NM_175046 RefSeq (protein) NP_001116855 NP_001116856 NP_001116857 NP_060215 NP_001161793 NP_083786 NP_778209 NP_778210 NP_778211 Location (UCSC) Chr X: 40.05 – 40.18 Mb Chr X: 11.9 – 12.03 Mb PubMed search [3] [4]
Wikidata
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Function

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. At least four alternatively spliced transcript variants, which encode different isoforms, have been reported for this gene.^[6]

Clinical significance

Mutations in the BCOR gene cause a form of syndromic microphthalmia (small eye) called MCOPS2. This syndrome incorporates microphthalmia, congenital cataracts, cardiac defects, dental defects and skeletal anomalies. Mutations in this gene have also been found associated to acute myeloid leukemia.^[7]

Interactions

BCOR has been shown to interact with MLLT3^[8] and BCL6.^[5]