CFAP73: Cilia and Flagella Associated Protein 73
A gene encoding a protein involved in ciliary function and spermatogenesis, with potential implications in male infertility and ciliopathies.
Gene Information Card
| Symbol | CFAP73 |
|---|---|
| Full Name | Cilia and Flagella Associated Protein 73 |
| Gene Type | protein-coding |
| Chromosomal Location | 12q24.31 |
| NCBI Gene ID | 100129924 ncbi.nlm.nih.gov/gene/100129924 |
| Ensembl ID | ENSG00000205571 |
| UniProt ID | Q5T7N2 |
| OMIM ID | 619178 |
| HGNC ID | 34478 |
| Aliases | C12orf73, FLJ45831 |
Description
CFAP73 (Cilia and Flagella Associated Protein 73) is a protein-coding gene located on chromosome 12q24.31. The encoded protein is predicted to be involved in the assembly or function of cilia and flagella, particularly in the axoneme. It is highly expressed in testis and is implicated in spermatogenesis. Mutations in CFAP73 have been associated with male infertility due to sperm flagellar defects.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility (sperm flagellar defects) | Loss-of-function mutations in CFAP73 disrupt axonemal structure, impairing sperm motility. | ClinVar, OMIM |
| Primary ciliary dyskinesia (PCD) | Potential involvement due to ciliary dysfunction, though direct evidence is limited. | NCBI Gene, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 28.5 | High |
| Fallopian tube | 6.2 | Medium |
| Thyroid | 4.1 | Low |
| Lung | 3.8 | Low |
| Brain | 1.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Sperm cells | N/A | High expression in testicular germ cells |
| HeLa | 0.5 | Low |
| HEK293 | 0.3 | Low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.325C>T (p.Arg109*) | Nonsense | Rare | Loss of function; associated with asthenozoospermia |
| c.487_488del (p.Leu163fs) | Frameshift | Rare | Loss of function; disrupts protein length |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated or absent protein, impairing flagellar assembly.
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) |
| • spermatid development (GO:0007286) | • epithelial cilium movement (GO:0003351) |
Pathways
• hsa04540: Ciliary axoneme assembly
• hsa04940: Spermatogenesis
Protein Summary
The CFAP73 protein is a 273-amino-acid polypeptide with a coiled-coil domain, localized to the ciliary axoneme. It is essential for the structural integrity of sperm flagella and motile cilia. Loss of CFAP73 leads to disorganized axonemal microtubules and impaired motility.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CFAP73 Knockout HEK293 Cell Line | EDJ-KQ12881 | Human | 387885 | Details Get a Quote |
| CFAP73 Knockout HeLa Cell Line | EDJ-KQ59998 | Human | 387885 | Details Get a Quote |
| CFAP73 Knockout A-549 Cell Line | EDJ-KQ68459 | Human | 387885 | Details Get a Quote |
| CFAP73 Knockout HCT 116 Cell Line | EDJ-KQ76837 | Human | 387885 | Details Get a Quote |
