CCDC88C
Chr 14ADARcoiled-coil domain containing 88C
This gene encodes a coiled-coil domain-containing protein that acts as a non-receptor guanine nucleotide exchange factor and negative regulator of canonical Wnt signaling by binding to Wnt receptor FZD7 and displacing dishevelled protein. Mutations cause autosomal recessive congenital hydrocephalus and possibly autosomal dominant spinocerebellar ataxia 40, affecting the central nervous system. The gene is highly constrained against loss-of-function variants (LOEUF 0.454), indicating intolerance to protein-disrupting mutations.
Some data sources returned errors (1)
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Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Literature Evidence
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
CCDC88C · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools