CIMIP2B
Chr 9ciliary microtubule inner protein 2B
Also known as: FAM166B
The protein is a microtubule inner protein component of dynein-decorated doublet microtubules in cilia axonemes that is required for motile cilia beating. Mutations cause primary ciliary dyskinesia, which affects the respiratory tract, fertility, and can involve organ laterality defects. Primary ciliary dyskinesia follows autosomal recessive inheritance.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
141 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 65 | 0 | 65 |
Likely Pathogenic | 0 | 0 | 9 | 0 | 9 |
VUS | 1 | 50 | 7 | 0 | 58 |
Likely Benign | 0 | 4 | 0 | 1 | 5 |
Benign | 0 | 0 | 0 | 0 | 0 |
| Total | 1 | 54 | 81 | 1 | 137 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
CIMIP2B · 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