CFAP206: Cilia and Flagella Associated Protein 206
A key component of the radial spoke complex in motile cilia, associated with primary ciliary dyskinesia.
Gene Information Card
| Symbol | CFAP206 |
|---|---|
| Full Name | Cilia and Flagella Associated Protein 206 |
| Gene Type | Protein coding |
| Chromosomal Location | 6p21.1 |
| NCBI Gene ID | 79821 ncbi.nlm.nih.gov/gene/79821 |
| Ensembl ID | ENSG00000112210 |
| UniProt ID | Q9H7P6 |
| OMIM ID | 617829 |
| HGNC ID | 28470 |
| Aliases | C6orf170, MGC26733 |
Description
CFAP206 encodes a protein localized to the radial spoke complex of motile cilia and flagella. It is essential for ciliary motility and axonemal structure. Mutations in CFAP206 cause primary ciliary dyskinesia (PCD) with defects in outer dynein arm assembly and radial spoke function.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary Ciliary Dyskinesia 38 | Loss-of-function mutations disrupt radial spoke assembly, impairing ciliary motility | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Lung | 8.2 | Low |
| Brain | 6.1 | Low |
| Kidney | 5.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| hTERT-RPE1 | 10.3 | Ciliated epithelial cell line |
| BEAS-2B | 7.8 | Bronchial epithelial cell line |
| HeLa | 2.1 | Non-ciliated cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.325C>T (p.Arg109*) | Nonsense | Rare | Loss of function; associated with PCD |
| c.494_495del (p.Glu165Glyfs*12) | Frameshift | Rare | Loss of function; associated with PCD |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations cause premature termination, leading to loss of radial spoke protein and ciliary dyskinesia.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • cytoskeleton (GO:0005856) | • outer dynein arm assembly (GO:0036157) |
| • cilium-dependent cell motility (GO:0060285) | • cilium (GO:0005929) |
Pathways
• Ciliary motility (REACT: R-HSA-5620920)
• Radial spoke assembly (REACT: R-HSA-5620912)
Protein Summary
CFAP206 is a 206-amino acid protein that localizes to the radial spoke stalk in motile cilia. It interacts with RSPH1 and RSPH9 to stabilize the radial spoke complex. Loss of CFAP206 leads to defective ciliary beating and mucociliary clearance.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CFAP206 Knockout HEK293 Cell Line | EDJ-KQ11555 | Human | 154313 | Details Get a Quote |
| CFAP206 Knockout A-549 Cell Line | EDJ-KQ39887 | Human | 154313 | Details Get a Quote |
| CFAP206 Knockout HeLa Cell Line | EDJ-KQ58740 | Human | 154313 | Details Get a Quote |
| CFAP206 Knockout HCT 116 Cell Line | EDJ-KQ75624 | Human | 154313 | Details Get a Quote |
