CIMIP2A
Chr 9ciliary microtubule inner protein 2A
Also known as: FAM166A, HSD46
The protein is a microtubule inner protein that binds to intra-tubulin interfaces within dynein-decorated doublet microtubules in flagellar axonemes and is involved in flagellated sperm motility. Mutations cause primary ciliary dyskinesia with an autosomal recessive inheritance pattern. The gene shows minimal constraint against loss-of-function variants based on population genetics data.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
CIMIP2A · 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 →No open access results found
External Resources
Links to major genomics databases and tools