CFAP221 Chromosome 2
Cilia and flagella associated protein 221
Upload your DNA to see your personal genotypes for variants in CFAP221.
What This Gene Does
Predicted to enable calmodulin binding activity. Predicted to be involved in motile cilium assembly. Predicted to act upstream of or within epithelial cilium movement involved in extracellular fluid movement; establishment of localization in cell; and sperm flagellum assembly. Predicted to be located in axoneme and manchette. Predicted to be active in 9+2 motile cilium. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
Cilia and flagella associated
Locus Type
gene with protein product
Location
2q14.2
Ensembl
ENSG00000163075
Associated Conditions (2)
Primary ciliary dyskinesia
Young syndrome
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2104806661 | Health Risk | Pathogenic/Likely pathogenic | Primary ciliary dyskinesia, Young syndrome, Primary ciliary dyskinesia |
| RS759274091 | Health Risk | Pathogenic/Likely pathogenic | Primary ciliary dyskinesia, Young syndrome, Primary ciliary dyskinesia |