CFAP20: Cilia and Flagella Associated Protein 20
A core component of the ciliary axoneme involved in motile cilia function and implicated in primary ciliary dyskinesia.
Gene Information Card
| Symbol | CFAP20 |
|---|---|
| Full Name | Cilia and Flagella Associated Protein 20 |
| Gene Type | Protein coding |
| Chromosomal Location | 16q22.1 |
| NCBI Gene ID | 29103 ncbi.nlm.nih.gov/gene/29103 |
| Ensembl ID | ENSG00000103174 |
| UniProt ID | Q9Y6A5 |
| OMIM ID | 617092 |
| HGNC ID | 29323 |
| Aliases | BOG25, C16orf80, FLJ20489, MGC12966 |
Description
CFAP20 encodes a protein localized to the ciliary axoneme, essential for the assembly and function of motile cilia. It is involved in ciliary motility and has been associated with primary ciliary dyskinesia (PCD), a disorder characterized by impaired mucociliary clearance, chronic respiratory infections, and laterality defects.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary Ciliary Dyskinesia | Loss-of-function mutations in CFAP20 disrupt ciliary axoneme structure, impairing ciliary motility and mucociliary clearance. | ClinVar, OMIM |
| Situs Inversus | Defective ciliary function during embryonic development can lead to randomized left-right body asymmetry. | OMIM, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Lung | 8.7 | Low |
| Trachea | 7.1 | Low |
| Fallopian Tube | 6.5 | Low |
| Brain (Cerebellum) | 3.4 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| BEAS-2B (bronchial epithelial) | 12.5 | Ciliated cell line |
| Huh-7 (hepatocyte) | 4.2 | Low expression |
| HeLa (cervical) | 2.1 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of start codon, likely loss of function |
| c.325C>T (p.Arg109*) | Nonsense | Rare | Premature stop, loss of function |
| c.487_488delAG (p.Arg163Glufs*2) | Frameshift | Rare | Frameshift, loss of function |
Mutation functional classification
Loss of Function (LOF)
Most reported CFAP20 mutations are loss-of-function (nonsense, frameshift, splice-site), leading to truncated or absent protein and impaired ciliary motility.
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)
| • cilium (GO:0005929) | • axoneme assembly (GO:0035082) |
| • cilium movement (GO:0003341) | • cytoskeleton (GO:0005856) |
| • protein binding (GO:0005515) |
Pathways
• Ciliary motility (Reactome: R-HSA-5620924)
• Axoneme assembly (Reactome: R-HSA-5620916)
Protein Summary
CFAP20 encodes a 20 kDa protein (UniProt Q9Y6A5) that localizes to the ciliary axoneme. It is a component of the radial spoke complex, which is critical for regulating ciliary beat frequency and waveform. The protein contains a coiled-coil domain and is highly conserved in organisms with motile cilia.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CFAP20DC Knockout HEK293 Cell Line | EDJ-KQ3862 | Human | 200844 | Details Get a Quote |
| CFAP20 Knockout HEK293 Cell Line | EDJ-KQ8986 | Human | 29105 | Details Get a Quote |
| CFAP206 Knockout HEK293 Cell Line | EDJ-KQ11555 | Human | 154313 | Details Get a Quote |
| CFAP20 Knockout HCT 116 Cell Line | EDJ-KQ34159 | Human | 29105 | Details Get a Quote |
| CFAP20DC Knockout A-549 Cell Line | EDJ-KQ27296 | Human | 200844 | Details Get a Quote |
| CFAP20DC Knockout HCT 116 Cell Line | EDJ-KQ27297 | Human | 200844 | Details Get a Quote |
| CFAP20DC Knockout HeLa Cell Line | EDJ-KQ27298 | Human | 200844 | Details Get a Quote |
| CFAP20 Knockout A-549 Cell Line | EDJ-KQ35421 | Human | 29105 | Details Get a Quote |
| CFAP20 Knockout HeLa Cell Line | EDJ-KQ35423 | Human | 29105 | 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 |
