CFAP52: Cilia and Flagella Associated Protein 52
A gene encoding a protein essential for ciliary function and implicated in primary ciliary dyskinesia
Gene Information Card
| Symbol | CFAP52 |
|---|---|
| Full Name | Cilia and Flagella Associated Protein 52 |
| Gene Type | protein-coding |
| Chromosomal Location | 17p13.1 |
| NCBI Gene ID | 146845 ncbi.nlm.nih.gov/gene/146845 |
| Ensembl ID | ENSG00000108848 |
| UniProt ID | Q8N8J0 |
| OMIM ID | 617846 |
| HGNC ID | 26234 |
| Aliases | C17orf63, FLJ22184, MGC13170 |
Description
CFAP52 encodes a protein localized to cilia and flagella, involved in axonemal assembly and motility. Mutations in this gene cause primary ciliary dyskinesia (PCD) with defects in sperm flagella and respiratory cilia.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary Ciliary Dyskinesia 47 | Loss of CFAP52 disrupts axonemal dynein arm assembly, impairing ciliary beat frequency | PMID: 31564436, ClinVar |
| Spermatogenic Failure 47 | Defective flagellar motility due to CFAP52 loss leads to asthenozoospermia | PMID: 31564436, OMIM 617846 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 28.5 | High |
| Trachea | 12.3 | Medium |
| Lung | 8.1 | Medium |
| Fallopian Tube | 6.7 | Low |
| Brain | 2.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| hTERT-RPE1 | 15.2 | Ciliated epithelial cell line |
| BEAS-2B | 10.8 | Bronchial epithelial cells |
| HepG2 | 1.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.100C>T (p.Arg34*) | Nonsense | Rare | Loss of function; truncation |
| c.325G>A (p.Gly109Arg) | Missense | Rare | Impaired protein stability |
| c.502_503del (p.Leu168fs) | Frameshift | Rare | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations cause premature termination, leading to absent or non-functional CFAP52 protein.
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) | • cytoskeleton (GO:0005856) |
| • determination of left/right symmetry (GO:0007368) | • axoneme assembly (GO:0035082) |
| • cilium-dependent cell motility (GO:0060285) |
Pathways
• Ciliary axoneme assembly
• Flagellar motility
Protein Summary
CFAP52 is a 52 kDa protein containing coiled-coil domains, localized to the axoneme of cilia and flagella. It interacts with dynein arm components and is essential for proper ciliary beat frequency and sperm motility.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CFAP52 Knockout HEK293 Cell Line | EDJ-KQ2367 | Human | 146845 | Details Get a Quote |
| CFAP52 Knockout HeLa Cell Line | EDJ-KQ58559 | Human | 146845 | Details Get a Quote |
| CFAP52 Knockout A-549 Cell Line | EDJ-KQ67048 | Human | 146845 | Details Get a Quote |
| CFAP52 Knockout HCT 116 Cell Line | EDJ-KQ75448 | Human | 146845 | Details Get a Quote |
