CCDC39 Gene - Coiled-Coil Domain Containing 39
Essential regulator of ciliary axonemal organization and mucociliary clearance
Gene Information Card
| Symbol | CCDC39 |
|---|---|
| Full Name | Coiled-Coil Domain Containing 39 |
| Gene Type | Protein coding |
| Chromosomal Location | 3q26.33 |
| NCBI Gene ID | 339479 ncbi.nlm.nih.gov/gene/339479 |
| Ensembl ID | ENSG00000145016 |
| UniProt ID | Q9UFE4 |
| OMIM ID | 613798 |
| HGNC ID | 26570 |
| Aliases | FAP59, CILD14, MGC35043 |
Description
CCDC39 encodes a coiled-coil domain-containing protein that is a component of the axonemal dynein regulatory complex (DRC) in cilia. It is essential for the proper assembly and function of inner dynein arms and the radial spoke system, thereby regulating ciliary beat frequency and waveform. Loss-of-function mutations cause primary ciliary dyskinesia (PCD) with defects in mucociliary clearance.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary ciliary dyskinesia 14 (CILD14) | Loss-of-function mutations disrupt axonemal dynein regulatory complex assembly, impairing ciliary motility | OMIM #613798; ClinVar pathogenic variants |
| Primary ciliary dyskinesia with situs inversus (Kartagener syndrome) | Same mechanism; defective ciliary motility leads to randomization of left-right body asymmetry | OMIM #244400; case reports |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 12.5 | Medium |
| Trachea | 18.3 | Medium |
| Testis | 8.7 | Low |
| Fallopian tube | 15.1 | Medium |
| Brain (cerebellum) | 2.3 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (lung carcinoma) | 9.8 | Moderate expression |
| BEAS-2B (bronchial epithelial) | 14.2 | Higher expression in ciliated cells |
| HepG2 (hepatocellular carcinoma) | 1.1 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1072C>T (p.Arg358*) | Nonsense | Rare | Premature stop; loss of function |
| c.1687delG (p.Glu563Lysfs*2) | Frameshift deletion | Rare | Frameshift; loss of function |
| c.2143G>A (p.Gly715Arg) | Missense | Rare | Disrupts coiled-coil domain; likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Majority of reported CCDC39 mutations are loss-of-function (nonsense, frameshift, splice-site) leading to truncated or absent protein, causing primary ciliary dyskinesia.
Gain of Function (GOF)
No gain-of-function mutations reported for CCDC39.
Dominant Negative (DN)
No dominant-negative mutations reported; inheritance is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Ciliary motility (Reactome: R-HSA-5620920)
• Axonemal dynein complex assembly (Reactome: R-HSA-5620916)
• Primary ciliary dyskinesia (KEGG: hsa05340)
Protein Summary
CCDC39 is a 957-amino-acid protein containing multiple coiled-coil domains. It localizes to the ciliary axoneme and is a structural component of the dynein regulatory complex (DRC). The protein interacts with CCDC40 and other DRC subunits to coordinate inner dynein arm activity and radial spoke function. Loss of CCDC39 leads to disorganized axonemal microtubules and immotile cilia.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CCDC39 Knockout HEK293 Cell Line | EDJ-KQ12166 | Human | 339829 | Details Get a Quote |
| CCDC39 Knockout HCT 116 Cell Line | EDJ-KQ40868 | Human | 339829 | Details Get a Quote |
| CCDC39 Knockout HeLa Cell Line | EDJ-KQ59652 | Human | 339829 | Details Get a Quote |
| CCDC39 Knockout A-549 Cell Line | EDJ-KQ68123 | Human | 339829 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
