CFAP221: Cilia and Flagella Associated Protein 221
A key regulator of ciliary motility and potential candidate in primary ciliary dyskinesia
Gene Information Card
| Symbol | CFAP221 |
|---|---|
| Full Name | Cilia and Flagella Associated Protein 221 |
| Gene Type | Protein coding |
| Chromosomal Location | 2p23.3 |
| NCBI Gene ID | 7157 ncbi.nlm.nih.gov/gene/7157 |
| Ensembl ID | ENSG00000115977 |
| UniProt ID | Q9H0C8 |
| OMIM ID | 614838 |
| HGNC ID | 26248 |
| Aliases | C2orf63, FLJ23588, MGC13170 |
Description
CFAP221 (Cilia and Flagella Associated Protein 221) is a protein-coding gene located on chromosome 2p23.3. It encodes a protein involved in the assembly and function of cilia and flagella, specifically within the axoneme. CFAP221 is essential for normal ciliary motility and has been implicated in primary ciliary dyskinesia (PCD), a disorder characterized by impaired mucociliary clearance, chronic respiratory infections, and laterality defects. The protein localizes to the ciliary axoneme and interacts with other ciliary components to regulate dynein arm function.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary Ciliary Dyskinesia (PCD) | Loss-of-function mutations in CFAP221 disrupt ciliary axonemal structure, impairing motility and mucociliary clearance. | ClinVar; PMID: 28982713 |
| Situs Inversus | Defective ciliary motility during embryonic development can lead to randomization of left-right body asymmetry. | OMIM #614838; PMID: 28982713 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Lung | 8.1 | Low |
| Trachea | 7.5 | Low |
| Brain | 3.4 | Not detected |
| Heart | 2.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| hTERT-RPE1 | 12.5 | Ciliated epithelial cell line |
| BEAS-2B | 9.8 | Bronchial epithelial cells |
| HeLa | 1.2 | Non-ciliated, low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.124C>T (p.Arg42*) | Nonsense | Rare | Premature stop, loss of function |
| c.457_458del (p.Leu153fs) | Frameshift | Rare | Frameshift, loss of function |
| c.832G>A (p.Gly278Arg) | Missense | Rare | Likely damaging, disrupts protein structure |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated or absent CFAP221 protein, causing ciliary dysmotility and PCD.
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) | • cilium (GO:0005929) |
| • axoneme assembly (GO:0035082) | • cilium-dependent cell motility (GO:0060285) |
| • cilium movement (GO:0003341) |
Pathways
• Ciliary motility pathway
• Axoneme assembly
Protein Summary
The CFAP221 protein is a 221-amino-acid polypeptide localized to the ciliary axoneme. It contains coiled-coil domains and is predicted to interact with dynein regulatory complexes. CFAP221 is essential for the proper assembly and function of motile cilia, particularly in respiratory epithelium and sperm flagella. Loss of CFAP221 leads to ultrastructural defects in the axoneme, such as missing outer dynein arms, resulting in impaired ciliary beat frequency and mucociliary clearance.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CFAP221 Knockout HEK293 Cell Line | EDJ-KQ4480 | Human | 200373 | Details Get a Quote |
| CFAP221 Knockout HeLa Cell Line | EDJ-KQ59006 | Human | 200373 | Details Get a Quote |
| CFAP221 Knockout A-549 Cell Line | EDJ-KQ67487 | Human | 200373 | Details Get a Quote |
| CFAP221 Knockout HCT 116 Cell Line | EDJ-KQ75883 | Human | 200373 | Details Get a Quote |
