Ccdc40 Gene Summary [Mouse]
Involved in epithelial cilium movement involved in determination of left/right asymmetry; lung development; and protein localization to cilium. Acts upstream of or within axoneme assembly and determination of left/right symmetry. Located in cilium and cytoplasm. Is active in motile cilium. Is expressed in several structures, including central nervous system; node; olfactory epithelium; and respiratory system. Human ortholog(s) of this gene implicated in primary ciliary dyskinesia 15. Orthologous to human CCDC40 (coiled-coil domain 40 molecular ruler complex subunit). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Nonsense Mediated Decay |
| Official Symbol | Ccdc40 |
| Official Name | coiled-coil domain containing 40 [Source:MGI Symbol;Acc:MGI:2443893] |
| Ensembl ID | ENSMUSG00000039963 |
| Bio databases IDs | |
| Aliases | coiled-coil domain containing 40 |
| Synonyms | B930008I02Rik, CFAP172, CILD15, coiled-coil domain 40 molecular ruler complex subunit, coiled-coil domain containing 40, FAP172 |
| Species | Mouse, Mus musculus |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in mouse Ccdc40 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- chromosome segregation protein SMC, common bacterial type
- chromosome segregation protein SMC, primarily archaeal type
- exonuclease SbcC
- BRE1 E3 ubiquitin ligase
- helix-rich Mycoplasma protein
- protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- primary ciliary dyskinesia
- primary ciliary dyskinesia type 15
- Kartagener syndrome
- DOCK8 deficiency
- Usher syndrome
- primary ciliary dyskinesia 3
- situs ambiguus
- lung carcinoma
- lung carcinoma process
regulates
- Axonemal Dynein Inner Arm
- Axonemal Dynein
role in cell
- assembly
- motility
- movement
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- motile cilia
- cilia
- axonemes
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Ccdc40 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- epithelial cilium movement involved in determination of left/right asymmetry
- determination of digestive tract left/right asymmetry
- epithelial cilium movement
- axoneme assembly
- cilium movement
- motile cilium assembly
- regulation of cilium beat frequency
- sperm motility
- axonemal dynein complex assembly
- heart looping
- inner dynein arm assembly
- determination of liver left/right asymmetry
- lung development
- determination of pancreatic left/right asymmetry
Cellular Component
Where in the cell the gene product is active
- cytoplasm
- cilium
- extracellular region
- axoneme