CFAP47: Cilia and Flagella Associated Protein 47
A gene encoding a protein essential for sperm flagellar function and implicated in primary ciliary dyskinesia and male infertility.
Gene Information Card
| Symbol | CFAP47 |
|---|---|
| Full Name | Cilia and Flagella Associated Protein 47 |
| Gene Type | Protein coding |
| Chromosomal Location | Xp21.1 |
| NCBI Gene ID | 286464 ncbi.nlm.nih.gov/gene/286464 |
| Ensembl ID | ENSG00000147140 |
| UniProt ID | Q5T1M5 |
| OMIM ID | 300804 |
| HGNC ID | 28151 |
| Aliases | FAM92A1, SPGF52, CILD60 |
Description
CFAP47 encodes a protein localized to the ciliary axoneme and sperm flagellum, essential for proper flagellar assembly and motility. Mutations in this gene cause primary ciliary dyskinesia (CILD60) and spermatogenic failure (SPGF52), leading to male infertility due to impaired sperm motility.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary Ciliary Dyskinesia 60 (CILD60) | Loss-of-function mutations disrupt axonemal structure, impairing mucociliary clearance and sperm motility. | ClinVar, OMIM |
| Spermatogenic Failure 52 (SPGF52) | Defective flagellar assembly causes asthenozoospermia and male infertility. | OMIM, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | High |
| Fallopian Tube | 3.2 | Low |
| Lung | 2.1 | Low |
| Brain | 1.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Spermatozoa | N/A | High expression in flagella |
| Testicular cells | N/A | Expressed in spermatids |
| Airway epithelial cells | N/A | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | Rare | Loss of function; truncates protein |
| c.567_568del (p.Glu190fs) | Frameshift | Rare | Loss of function; premature stop |
| c.890G>A (p.Arg297His) | Missense | Rare | Likely damaging; disrupts axonemal localization |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations cause loss of CFAP47 function, leading to defective flagellar assembly 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)
| • cilium (GO:0005929) | • sperm flagellum (GO:0036126) |
| • epithelial cilium movement involved in extracellular fluid movement (GO:0003351) | • spermatid development (GO:0007286) |
Pathways
• Ciliary axoneme assembly
• Spermatogenesis
Protein Summary
CFAP47 is a 1,020-amino acid protein localized to the ciliary axoneme and sperm flagellum. It contains coiled-coil domains and is essential for the structural integrity and motility of flagella. The protein interacts with other axonemal components to facilitate microtubule sliding and flagellar beating.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CFAP47 Knockout HEK293 Cell Line | EDJ-KQ12129 | Human | 286464 | Details Get a Quote |
| CFAP47 Knockout HeLa Cell Line | EDJ-KQ59558 | Human | 286464 | Details Get a Quote |
| CFAP47 Knockout A-549 Cell Line | EDJ-KQ68025 | Human | 286464 | Details Get a Quote |
| CFAP47 Knockout HCT 116 Cell Line | EDJ-KQ76404 | Human | 286464 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
