BCOR BCL6 corepressor
Gene ID: 54880, updated on 10-Oct-2024Gene type: protein coding
Also known as: MAA2; ANOP2; MCOPS2
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- Go to complete Gene record for BCOR
- Go to Variation Viewer for BCOR variants
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.[provided by RefSeq, Jun 2010]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Genome-wide association studies of pit-and-fissure- and smooth-surface caries in permanent dentition. GeneReviews: Not available | |
| Microphthalmia, syndromic 1 | See labs |
| Oculofaciocardiodental syndrome | See labs |
Copy number response
| Description |
|---|
| Copy number response Triplosensitivity No evidence available (Last evaluated 2012-10-04) ClinGen Genome Curation PageHaploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2012-10-04) ClinGen Genome Curation PagePubMed |
Genomic context
- Location:
- Xp11.4
- Sequence:
- Chromosome: X; NC_000023.11 (40051246..40177329, complement)
- Total number of exons:
- 22
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for BCOR variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- BCOR @ LOVD
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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