BCOR Chromosome X
BCL6 corepressor
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What This Gene Does
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]
Gene Info
Gene Group
Ankyrin repeat domain containing
Locus Type
gene with protein product
Location
Xp11.4
Ensembl
ENSG00000183337
Associated Conditions (15)
Oculofaciocardiodental syndrome
Inborn genetic diseases
Intellectual disability
BCOR-related disorder
History of neurodevelopmental disorder
Microphthalmia
syndromic 1
Abnormal brain morphology
Thyroid cancer
nonmedullary
1
Oculofaciocardiodental syndrome (OFCD)
Acute myeloid leukemia
Developmental cataract
Glioblastoma
Key Variants
RS1033092772
Conflicting classifications of pathogenicity
Oculofaciocardiodental syndrome, Inborn genetic diseases, Oculofaciocardiodental syndrome
Health Risk
RS1041380012
Conflicting classifications of pathogenicity
Oculofaciocardiodental syndrome, Intellectual disability, Oculofaciocardiodental syndrome
Health Risk
RS111622737
Conflicting classifications of pathogenicity
Oculofaciocardiodental syndrome, BCOR-related disorder, Inborn genetic diseases
Health Risk
RS1341463104
Conflicting classifications of pathogenicity
Oculofaciocardiodental syndrome, Oculofaciocardiodental syndrome
Health Risk
RS138012019
Conflicting classifications of pathogenicity
Oculofaciocardiodental syndrome, Inborn genetic diseases, Oculofaciocardiodental syndrome
Health Risk
RS138137552
Conflicting classifications of pathogenicity
Oculofaciocardiodental syndrome, Oculofaciocardiodental syndrome
Health Risk
RS138741225
Conflicting classifications of pathogenicity
Oculofaciocardiodental syndrome, BCOR-related disorder, Oculofaciocardiodental syndrome
Health Risk
RS138917640
Conflicting classifications of pathogenicity
Oculofaciocardiodental syndrome, BCOR-related disorder, Oculofaciocardiodental syndrome
Health Risk
RS139802143
Conflicting classifications of pathogenicity
Oculofaciocardiodental syndrome, History of neurodevelopmental disorder, Oculofaciocardiodental syndrome
Health Risk
RS140693978
Conflicting classifications of pathogenicity
Oculofaciocardiodental syndrome, Oculofaciocardiodental syndrome
Health Risk
RS140897453
Conflicting classifications of pathogenicity
Oculofaciocardiodental syndrome, BCOR-related disorder, Oculofaciocardiodental syndrome
Health Risk
RS140923855
Conflicting classifications of pathogenicity
Oculofaciocardiodental syndrome, Oculofaciocardiodental syndrome
Health Risk
All Variants (130)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2147176806 | Health Risk | Pathogenic | Oculofaciocardiodental syndrome, Oculofaciocardiodental syndrome |
| RS2147206769 | Health Risk | Pathogenic | Oculofaciocardiodental syndrome, Oculofaciocardiodental syndrome |
| RS2147241441 | Health Risk | Pathogenic | Oculofaciocardiodental syndrome, Oculofaciocardiodental syndrome |
| RS2519380477 | Health Risk | Pathogenic | — |
| RS2519520021 | Health Risk | Pathogenic | Oculofaciocardiodental syndrome, Oculofaciocardiodental syndrome |
| RS2519588473 | Health Risk | Pathogenic | Oculofaciocardiodental syndrome, Oculofaciocardiodental syndrome |
| RS2519702377 | Health Risk | Pathogenic | Oculofaciocardiodental syndrome, Oculofaciocardiodental syndrome |
| RS2519847860 | Health Risk | Pathogenic | Oculofaciocardiodental syndrome, Oculofaciocardiodental syndrome |
| RS2519848724 | Health Risk | Pathogenic | Oculofaciocardiodental syndrome, Oculofaciocardiodental syndrome |
| RS2519849358 | Health Risk | Pathogenic | Oculofaciocardiodental syndrome, Oculofaciocardiodental syndrome |
| RS2519855439 | Health Risk | Pathogenic | Oculofaciocardiodental syndrome, Oculofaciocardiodental syndrome |
| RS2519910923 | Health Risk | Pathogenic | Oculofaciocardiodental syndrome, Oculofaciocardiodental syndrome |
| RS2519930695 | Health Risk | Pathogenic | Oculofaciocardiodental syndrome, Oculofaciocardiodental syndrome |
| RS2519951682 | Health Risk | Pathogenic | Oculofaciocardiodental syndrome, Oculofaciocardiodental syndrome |
| RS2520039276 | Health Risk | Pathogenic | Oculofaciocardiodental syndrome, Oculofaciocardiodental syndrome |
| RS2520058084 | Health Risk | Pathogenic | — |
| RS2520071979 | Health Risk | Pathogenic | Oculofaciocardiodental syndrome, Oculofaciocardiodental syndrome |
| RS2520083089 | Health Risk | Pathogenic | Oculofaciocardiodental syndrome, Oculofaciocardiodental syndrome |
| RS398124313 | Health Risk | Pathogenic | — |
| RS727503826 | Health Risk | Pathogenic | — |
| RS730880013 | Health Risk | Pathogenic | Oculofaciocardiodental syndrome, Oculofaciocardiodental syndrome |
| RS730880034 | Health Risk | Pathogenic | Oculofaciocardiodental syndrome, Oculofaciocardiodental syndrome |
| RS748074364 | Health Risk | Pathogenic | Oculofaciocardiodental syndrome, Oculofaciocardiodental syndrome |
| RS766620661 | Health Risk | Pathogenic | Oculofaciocardiodental syndrome, Oculofaciocardiodental syndrome |
| RS797044647 | Health Risk | Pathogenic | — |
| RS864309680 | Health Risk | Pathogenic | Developmental cataract, Developmental cataract |
| RS864309702 | Health Risk | Pathogenic | Developmental cataract, Developmental cataract |
| RS886041725 | Health Risk | Pathogenic | — |
| RS886042842 | Health Risk | Pathogenic | Glioblastoma, Inborn genetic diseases, Glioblastoma |
| RS2147215369 | Health Risk | Pathogenic/Likely pathogenic | Oculofaciocardiodental syndrome, Oculofaciocardiodental syndrome |