CFAP36: Cilia and Flagella Associated Protein 36
A gene encoding a protein involved in ciliary function and associated with primary ciliary dyskinesia and other ciliopathies.
Gene Information Card
| Symbol | CFAP36 |
|---|---|
| Full Name | Cilia and Flagella Associated Protein 36 |
| Gene Type | protein-coding |
| Chromosomal Location | 2p23.3 |
| NCBI Gene ID | 170954 ncbi.nlm.nih.gov/gene/170954 |
| Ensembl ID | ENSG00000163002 |
| UniProt ID | Q96C57 |
| OMIM ID | 617491 |
| HGNC ID | 26486 |
| Aliases | C2orf63, FLJ23514, MGC13170 |
Description
CFAP36 (Cilia and Flagella Associated Protein 36) is a protein-coding gene located on chromosome 2p23.3. The encoded protein is a component of the ciliary axoneme and is essential for normal ciliary motility and function. Mutations in CFAP36 are associated with primary ciliary dyskinesia (PCD), a disorder characterized by defective ciliary movement leading to chronic respiratory infections, infertility, and situs inversus. The gene is expressed in tissues with motile cilia, including the respiratory tract, fallopian tubes, and sperm flagella.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary Ciliary Dyskinesia (PCD) | Loss-of-function mutations in CFAP36 disrupt ciliary axonemal structure, impairing mucociliary clearance and causing chronic respiratory disease. | ClinVar, OMIM |
| Situs Inversus | Defective ciliary motility during embryonic development can lead to randomization of left-right body asymmetry, resulting in situs inversus in some PCD patients. | OMIM, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 12.5 | Medium |
| Fallopian Tube | 10.8 | Medium |
| Testis | 8.2 | Medium |
| Trachea | 7.9 | Low |
| Bronchus | 6.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (Lung carcinoma) | 14.3 | High expression |
| BEAS-2B (Bronchial epithelial) | 11.0 | Medium expression |
| HepG2 (Hepatocellular carcinoma) | 2.1 | Low expression |
| K562 (Leukemia) | 0.5 | Not detected |
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; predicted to cause nonsense-mediated decay |
| c.487_488del (p.Leu163Valfs*12) | Frameshift deletion | Rare | Loss of function; truncated protein |
| c.1012G>A (p.Gly338Arg) | Missense | Rare | Likely damaging; disrupts protein stability |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations (e.g., p.Arg109*, p.Leu163Valfs*12) result in truncated or absent protein, leading to ciliary dysfunction and PCD.
Gain of Function (GOF)
No gain-of-function mutations reported for CFAP36.
Dominant Negative (DN)
No dominant-negative mutations reported for CFAP36.
View complete mutation data：
Gene Ontology (GO)
| • cilium (GO:0005929) | • axoneme assembly (GO:0035082) |
| • cilium movement (GO:0003341) | • cytoskeleton (GO:0005856) |
| • protein binding (GO:0005515) |
Pathways
• REACT:1254417 - Cilium Assembly
• REACT:1254418 - Ciliary Motility
Protein Summary
CFAP36 encodes a 456-amino acid protein that localizes to the ciliary axoneme. It contains coiled-coil domains and is predicted to interact with other axonemal components to regulate ciliary beat frequency and waveform. The protein is highly conserved in vertebrates and is essential for motile cilia function in the respiratory tract, reproductive system, and embryonic node.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CFAP36 Knockout HEK293 Cell Line | EDJ-KQ6762 | Human | 112942 | Details Get a Quote |
| CFAP36 Knockout A-549 Cell Line | EDJ-KQ32565 | Human | 112942 | Details Get a Quote |
| CFAP36 Knockout HCT 116 Cell Line | EDJ-KQ32567 | Human | 112942 | Details Get a Quote |
| CFAP36 Knockout HeLa Cell Line | EDJ-KQ32568 | Human | 112942 | Details Get a Quote |
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