CFAP251: Cilia and Flagella Associated Protein 251
A key gene in sperm flagellar function and male infertility
Gene Information Card
| Symbol | CFAP251 |
|---|---|
| Full Name | Cilia and Flagella Associated Protein 251 |
| Gene Type | Protein coding |
| Chromosomal Location | 12q24.31 |
| NCBI Gene ID | 118813 ncbi.nlm.nih.gov/gene/118813 |
| Ensembl ID | ENSG00000174437 |
| UniProt ID | Q5T655 |
| OMIM ID | 618146 |
| HGNC ID | 28306 |
| Aliases | C12orf75, FLJ45831, SPGF43 |
Description
CFAP251 encodes a protein localized to the sperm flagellum and is essential for flagellar assembly and motility. Mutations in this gene cause male infertility due to asthenozoospermia, characterized by reduced or absent sperm motility.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility due to asthenozoospermia (SPGF43) | Loss-of-function mutations disrupt flagellar structure and motility | OMIM #618146; ClinVar; multiple case studies |
| Primary ciliary dyskinesia (PCD) | Defects in ciliary function may contribute to respiratory symptoms | Limited evidence; some patients with CFAP251 mutations exhibit PCD-like features |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Fallopian tube | 2.1 | Low |
| Lung | 1.8 | Low |
| Brain | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Sperm cells | High | Flagellar expression |
| Testicular cells | Medium | Spermatid stage |
| Airway epithelial cells | Low | Ciliary expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.169C>T (p.Arg57*) | Nonsense | Rare | Loss of function; truncated protein |
| c.442G>A (p.Gly148Arg) | Missense | Rare | Impaired flagellar assembly |
| c.1000delC (p.Leu334Trpfs*12) | Frameshift | Rare | Loss of function; premature termination |
Mutation functional classification
Loss of Function (LOF)
Most reported mutations are loss-of-function, leading to truncated or unstable protein, causing sperm flagellar defects.
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) | • motile cilium (GO:0031514) |
| • cilium movement (GO:0003341) | • spermatid development (GO:0007286) |
| • sperm flagellum (GO:0036126) |
Pathways
• Cilium assembly and maintenance
• Spermatogenesis
Protein Summary
CFAP251 is a 251-amino acid protein with coiled-coil domains, localized to the sperm flagellum and cilia. It is involved in axonemal organization and motility. Loss of function leads to asthenozoospermia and male infertility.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CFAP251 Knockout HEK293 Cell Line | EDJ-KQ10417 | Human | 144406 | Details Get a Quote |
| CFAP251 Knockout HCT 116 Cell Line | EDJ-KQ36483 | Human | 144406 | Details Get a Quote |
| CFAP251 Knockout A-549 Cell Line | EDJ-KQ37780 | Human | 144406 | Details Get a Quote |
| CFAP251 Knockout HeLa Cell Line | EDJ-KQ58508 | Human | 144406 | Details Get a Quote |
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