CC2D2A
Chr 4ARcoiled-coil and C2 domain containing 2A
Also known as: COACH2, JBTS9, MKS6, RP93
This gene encodes a coiled-coil and calcium binding domain protein that is critical for cilia formation. Mutations cause autosomal recessive ciliopathies including Meckel syndrome type 6, Joubert syndrome type 9, COACH syndrome type 2, and retinitis pigmentosa type 93. The pathogenic mechanism involves disrupted ciliary function due to defective cilia formation.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
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.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
CC2D2A · 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