CCDC40 Chromosome 17
Coiled-coil domain 40 molecular ruler complex subunit
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What This Gene Does
This gene encodes a protein that is necessary for motile cilia function. It functions in correct left-right axis formation by regulating the assembly of the inner dynein arm and the dynein regulatory complexes, which control ciliary beat. Mutations in this gene cause ciliary dyskinesia type 15, a disorder due to defects in cilia motility. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011]
Gene Info
Gene Group
"Cilia and flagella associated|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
17q25.3
Ensembl
ENSG00000141519
Associated Conditions (13)
Primary ciliary dyskinesia
Primary ciliary dyskinesia 15
CCDC40-related disorder
Male infertility
Usher syndrome
Thyroid cancer
nonmedullary
1
Heterotaxy
Primary ciliary dyskinesia 3
Kartagener syndrome
Combined immunodeficiency due to DOCK8 deficiency
Respiratory ciliopathies including non-CF bronchiectasis
Key Variants
RS115850223
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Primary ciliary dyskinesia 15, Primary ciliary dyskinesia
Health Risk
RS117307093
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Primary ciliary dyskinesia 15, Primary ciliary dyskinesia
Health Risk
RS117419007
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Primary ciliary dyskinesia 15, Primary ciliary dyskinesia
Health Risk
RS138001923
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Primary ciliary dyskinesia
Health Risk
RS139435501
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Primary ciliary dyskinesia 15, CCDC40-related disorder
Health Risk
RS141343307
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Primary ciliary dyskinesia 15, Primary ciliary dyskinesia
Health Risk
RS1434924240
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia 15, Primary ciliary dyskinesia, Primary ciliary dyskinesia 15
Health Risk
RS145013523
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Primary ciliary dyskinesia 15, Primary ciliary dyskinesia
Health Risk
RS146360951
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Primary ciliary dyskinesia 15, Primary ciliary dyskinesia
Health Risk
RS148674510
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia 15, Primary ciliary dyskinesia, Primary ciliary dyskinesia 15
Health Risk
RS1489341724
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Primary ciliary dyskinesia
Health Risk
RS185157579
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Primary ciliary dyskinesia 15, Primary ciliary dyskinesia
Health Risk
All Variants (162)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS878855041 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS878855042 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS886042621 | Health Risk | Pathogenic | — |
| RS977416538 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS1312712049 | Health Risk | Pathogenic/Likely pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia 15, Primary ciliary dyskinesia |
| RS1346603171 | Health Risk | Pathogenic/Likely pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS1567811487 | Health Risk | Pathogenic/Likely pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS1567818236 | Health Risk | Pathogenic/Likely pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS1568667609 | Health Risk | Pathogenic/Likely pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia 15, Primary ciliary dyskinesia |
| RS2037540861 | Health Risk | Pathogenic/Likely pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS374909386 | Health Risk | Pathogenic/Likely pathogenic | Primary ciliary dyskinesia, Respiratory ciliopathies including non-CF bronchiectasis, Primary ciliary dyskinesia 15 |
| RS746285699 | Health Risk | Pathogenic/Likely pathogenic | Primary ciliary dyskinesia 15, Primary ciliary dyskinesia, Primary ciliary dyskinesia 15 |