CCDC22
Chr XXLRCCC complex scaffolding subunit CCDC22
Also known as: CXorf37, JM1, RTSC2
This protein is a component of the commander complex that regulates endosomal recycling of transmembrane proteins and NF-kappa-B signaling. Mutations cause Ritscher-Schinzel syndrome 2, a syndromic X-linked intellectual disability disorder. The gene follows X-linked recessive inheritance and is highly constrained against loss-of-function variants (pLI = 1.00, LOEUF = 0.12).
Moderate evidence — consider for supplementary testing
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Among the most LoF-intolerant genes (~top 3%)
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
CCDC22 · 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