Gene: BCOR

Alternate names for this Gene: ANOP2|MAA2|MCOPS2

Gene Summary: 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.

Gene is located in Chromosome: X

Location in Chromosome : Xp11.4

Description of this Gene: BCL6 corepressor

Type of Gene: protein-coding

rs864309680 in BCOR gene and Congenital cataract PMID 26694549 2016 Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing.

rs121434618 in BCOR gene and Microphthalmia, syndromic 2 PMID 15004558 2004 Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR.

PMID 19367324 2009 BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects.