CFAP276: Cilia and Flagella Associated Protein 276
A gene encoding a protein associated with ciliary and flagellar function, with potential roles in spermatogenesis and respiratory cilia motility.
Gene Information Card
| Symbol | CFAP276 |
|---|---|
| Full Name | Cilia and Flagella Associated Protein 276 |
| Gene Type | Protein coding |
| Chromosomal Location | 1q32.1 |
| NCBI Gene ID | 100129361 ncbi.nlm.nih.gov/gene/100129361 |
| Ensembl ID | ENSG00000205642 |
| UniProt ID | A0A1B0GTV6 |
| OMIM ID | 620291 |
| HGNC ID | 53878 |
| Aliases | FLJ46321, C1orf194 |
Description
CFAP276 (Cilia and Flagella Associated Protein 276) is a protein-coding gene located on chromosome 1q32.1. The encoded protein is predicted to be involved in ciliary and flagellar assembly and function, based on sequence homology and domain architecture. It is expressed in tissues with motile cilia, including the respiratory tract and testis. Mutations in CFAP276 have been associated with primary ciliary dyskinesia and male infertility due to sperm flagellar defects.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary ciliary dyskinesia | Loss of CFAP276 function disrupts ciliary motility, leading to impaired mucociliary clearance and respiratory symptoms. | ClinVar, OMIM |
| Male infertility (sperm flagellar defects) | Defects in CFAP276 impair sperm flagellar assembly and motility, causing asthenozoospermia. | OMIM, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Lung | 8.3 | Low |
| Trachea | 7.1 | Low |
| Fallopian tube | 6.9 | Low |
| Brain | 2.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| hTERT-RPE1 | 5.4 | Ciliated retinal pigment epithelial cells |
| BEAS-2B | 4.8 | Bronchial epithelial cells |
| HeLa | 1.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.325C>T (p.Arg109*) | Nonsense | <0.01% | Loss of function; associated with primary ciliary dyskinesia |
| c.487_488del (p.Leu163fs) | Frameshift | <0.01% | Loss of function; predicted to cause protein truncation |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations in CFAP276 lead to truncated or absent protein, impairing ciliary and flagellar function.
Gain of Function (GOF)
No gain-of-function mutations reported for CFAP276.
Dominant Negative (DN)
No dominant-negative mutations reported for CFAP276.
View complete mutation data：
Gene Ontology (GO)
| • cilium assembly | • flagellated sperm motility |
| • outer dynein arm assembly | • cell projection organization |
Pathways
• Ciliary motility
• Spermatogenesis
Protein Summary
CFAP276 encodes a protein of unknown function, but it is predicted to localize to cilia and flagella based on sequence features. It contains coiled-coil domains and may interact with other ciliary proteins to support axonemal structure and motility. The protein is evolutionarily conserved in organisms with motile cilia.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CFAP276 Knockout HEK293 Cell Line | EDJ-KQ1065 | Human | 127003 | Details Get a Quote |
| CFAP276 Knockout HeLa Cell Line | EDJ-KQ58193 | Human | 127003 | Details Get a Quote |
| CFAP276 Knockout A-549 Cell Line | EDJ-KQ66682 | Human | 127003 | Details Get a Quote |
| CFAP276 Knockout HCT 116 Cell Line | EDJ-KQ75096 | Human | 127003 | Details Get a Quote |
