CFAP70
Cilia and Flagella Associated Protein 70
Gene Information Card
| Symbol | CFAP70 |
|---|---|
| Full Name | Cilia and Flagella Associated Protein 70 |
| Gene Type | Protein coding |
| Chromosomal Location | 10q25.1 |
| NCBI Gene ID | 100131384 ncbi.nlm.nih.gov/gene/100131384 |
| Ensembl ID | ENSG00000185303 |
| UniProt ID | Q5TZA9 |
| OMIM ID | 618587 |
| HGNC ID | 33812 |
| Aliases | C10orf79, FLJ32894, MGC16384 |
Description
CFAP70 encodes a protein localized to cilia and flagella, essential for axonemal structure and motility. It is involved in spermatogenesis and mucociliary clearance. Mutations are associated with primary ciliary dyskinesia and male infertility due to defective sperm flagella.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary ciliary dyskinesia | Loss of CFAP70 disrupts axonemal dynein assembly, impairing ciliary motility | ClinVar, OMIM |
| Male infertility (asthenozoospermia) | Defective sperm flagella due to CFAP70 mutations cause reduced motility | NCBI Gene, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | High |
| Lung | 3.2 | Low |
| Trachea | 2.8 | Low |
| Fallopian tube | 1.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| hTERT-RPE1 | 0.5 | Ciliated cell line |
| BEAS-2B | 0.3 | Bronchial epithelial |
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 |
| c.789_790del (p.Glu264fs) | Frameshift | Rare | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated protein, causing ciliary dysfunction.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • GO:0005929 (GO:0005929) | • GO:0036157 (GO:0036157) |
| • GO:0003351 (GO:0003351) | • GO:0007286 (GO:0007286) |
Pathways
• Cilium assembly
• Axoneme dynein complex
Protein Summary
CFAP70 is a 70 kDa protein containing coiled-coil domains, localized to the axoneme of cilia and flagella. It interacts with dynein arms and is critical for microtubule sliding and motility.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CFAP70 Knockout HEK293 Cell Line | EDJ-KQ7624 | Human | 118491 | Details Get a Quote |
| CFAP70 Knockout HCT 116 Cell Line | EDJ-KQ32969 | Human | 118491 | Details Get a Quote |
| CFAP70 Knockout HeLa Cell Line | EDJ-KQ58028 | Human | 118491 | Details Get a Quote |
| CFAP70 Knockout A-549 Cell Line | EDJ-KQ66516 | Human | 118491 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
