BCOR 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). Defects in BCOR are the cause of microphthalmia syndromic type 2 (MCOPS2). 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). Belongs to the BCOR family. 4 isoforms of the human protein are produced by alternative splicing. Note: This description may include information from UniProtKB.
Protein type: Transcription, coactivator/corepressor
Chromosomal Location of Human Ortholog: X|X A1.1
Cellular Component:  BCOR complex; nucleus
Molecular Function:  heat shock protein binding; histone deacetylase binding; protein binding; RNA polymerase II regulatory region sequence-specific DNA binding; transcription corepressor activity; transcription factor binding; transcription regulatory region DNA binding
Biological Process:  blastocyst hatching; chromatin organization; heart development; histone H2A monoubiquitination; negative regulation of bone mineralization; negative regulation of histone H3-K36 methylation; negative regulation of histone H3-K4 methylation; negative regulation of tooth mineralization; negative regulation of transcription by RNA polymerase II; negative regulation of transcription, DNA-templated; odontogenesis; roof of mouth development; specification of axis polarity
Reference #:  Q8CGN4 (UniProtKB)
Alt. Names/Synonyms: 5830466J11Rik; 8430401K06Rik; BCL-6 corepressor; BCL-6 interacting corepressor; BCL6 interacting corepressor; BCoR; BcorR; D930024N20Rik; Kiaa1575; mKIAA1575; OTTMUSP00000018407; OTTMUSP00000018417; OTTMUSP00000018418; OTTMUSP00000018419; RP23-451N14.1
Gene Symbols: Bcor
Molecular weight: 192,631 Da
Basal Isoelectric point: 6.1  Predict pI for various phosphorylation states
Select Structure to View Below


Protein Structure Not Found.

Cross-references to other databases:  STRING  |  BioGPS  |  Pfam  |  Phospho.ELM  |  NetworKIN  |  UniProtKB  |  Entrez-Gene  |  Ensembl Gene