DRC11
Chr 2dynein regulatory complex subunit 11
Also known as: 4930465P12Rik, IQCA, IQCA1
The encoded protein is a component of the nexin-dynein regulatory complex that regulates ciliary and flagellar motility by maintaining axoneme alignment and controlling microtubule sliding. Mutations cause primary ciliary dyskinesia, a disorder affecting the respiratory system, fertility, and often leading to organ laterality defects. Primary ciliary dyskinesia follows autosomal recessive inheritance.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/DRC11?content-type=application/json&expand=1
gnomad: Error: Gene not found
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
139 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 | 63 | 0 | 63 |
Likely Pathogenic | 0 | 0 | 1 | 0 | 1 |
VUS | 0 | 46 | 5 | 0 | 51 |
Likely Benign | 0 | 3 | 0 | 0 | 3 |
Benign | 0 | 0 | 0 | 0 | 0 |
| Total | 0 | 49 | 69 | 0 | 118 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
DRC11 · 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