C2ORF73
Chr 2ciliary microtubule inner protein 6
Also known as: C2orf73
The protein encoded by this gene is predicted to localize to cilia. Mutations cause autosomal recessive primary ciliary dyskinesia with or without situs inversus, affecting respiratory function and ciliary motility. This gene is not highly constrained against loss-of-function variants.
Some data sources returned errors (1)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/C2ORF73?content-type=application/json&expand=1
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
C2ORF73 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
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