AlphaFold predicted structure
BCOR · Q6W2J9
Mean pLDDT
39.7/ 100
Very low
1,755 residues
Confidence breakdown
- Very high(≥ 90)7%
- Confident(70–90)5%
- Low(50–70)1%
- Very low(< 50)86%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
BCOR
Chr Xp11.4BCL6 corepressor
- Aliases:
- FLJ20285, KIAA1575
- MANE:
- ENST00000378444.9
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Anophthalmia or microphthalmia
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)Bilateral congenital or childhood onset cataracts
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)Clefting
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)DDG2P
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)Fetal anomalies
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)Intellectual disability
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)Structural eye disease
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)Cytopenias and congenital anaemias
Unknown
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Disease associations (Open Targets)
microphthalmia, syndromic 2
0.81microphthalmia, Lenz type
0.69hereditary disease
0.51endometrial cancer
0.49acute myeloid leukemia
0.49gastric adenocarcinoma
0.44B-cell chronic lymphocytic leukemia
0.44Developmental cataract
0.43colorectal adenocarcinoma
0.41retinoblastoma
0.38
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
BCL-6 corepressor
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)
Diseases associated with BCOR
Curated MONDO disease pages that list BCOR among their top associated genes.