CCDC40
Coiled-Coil Domain Containing 40; Key Regulator of Motile Cilia Assembly and Function
Gene Information Card
| Symbol | CCDC40 |
|---|---|
| Full Name | Coiled-Coil Domain Containing 40 |
| Gene Type | Protein coding |
| Chromosomal Location | 17q25.3 |
| NCBI Gene ID | 55036 ncbi.nlm.nih.gov/gene/55036 |
| Ensembl ID | ENSG00000141519 |
| UniProt ID | Q96M86 |
| OMIM ID | 613799 |
| HGNC ID | 26070 |
| Aliases | CILD15, FLJ20643, MGC138290 |
Description
CCDC40 encodes a coiled-coil domain-containing protein essential for the assembly of inner dynein arms and the dynein regulatory complex in motile cilia. It is required for proper ciliary motility and left-right axis determination. Mutations in CCDC40 cause primary ciliary dyskinesia (PCD) with situs inversus (Kartagener syndrome).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary Ciliary Dyskinesia 15 (CILD15) | Loss-of-function mutations disrupt inner dynein arm assembly, impairing ciliary motility. | OMIM #613799; ClinVar |
| Kartagener Syndrome | Biallelic CCDC40 mutations cause situs inversus, chronic sinusitis, and bronchiectasis. | OMIM #244400; NCBI Gene |
| Situs Inversus Totalis | Defective nodal cilia function leads to random left-right body axis determination. | OMIM #270100; PubMed studies |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 12.5 | Medium |
| Trachea | 18.3 | High |
| Testis | 8.2 | Low |
| Fallopian Tube | 15.1 | Medium |
| Brain (cerebellum) | 1.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| BEAS-2B (bronchial epithelial) | 14.0 | Ciliated cell model |
| A549 (lung carcinoma) | 2.5 | Low expression |
| HepG2 (hepatocellular carcinoma) | 0.8 | Not detected |
| Caco-2 (colorectal) | 1.1 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.248delC (p.Pro83Leufs*2) | Frameshift | Rare | Loss of function; PCD |
| c.3175C>T (p.Arg1059*) | Nonsense | Rare | Premature stop; PCD |
| c.1234G>A (p.Gly412Arg) | Missense | Rare | Impaired protein function; PCD |
| c.4567_4568insA (p.Ile1523Asnfs*5) | Insertion | Rare | Frameshift; PCD |
Mutation functional classification
Loss of Function (LOF)
Most CCDC40 mutations are loss-of-function (nonsense, frameshift, splice-site), leading to absence of inner dynein arms and ciliary immotility.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported; disease is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Cilium assembly and transport (Reactome: R-HSA-5617833)
• Axonemal dynein complex assembly (KEGG: hsa05016)
Protein Summary
CCDC40 is a 1142-amino-acid protein containing coiled-coil domains. It localizes to the ciliary axoneme and is required for the assembly of inner dynein arms and the dynein regulatory complex. It interacts with CCDC39 and other axonemal proteins. Loss of CCDC40 results in immotile cilia, leading to primary ciliary dyskinesia.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CCDC40 Knockout HEK293 Cell Line | EDJ-KQ3439 | Human | 55036 | Details Get a Quote |
| CCDC40 Knockout A-549 Cell Line | EDJ-KQ25167 | Human | 55036 | Details Get a Quote |
| CCDC40 Knockout HCT 116 Cell Line | EDJ-KQ25168 | Human | 55036 | Details Get a Quote |
| CCDC40 Knockout HeLa Cell Line | EDJ-KQ23787 | Human | 55036 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
