CCDC39 Chromosome 3
Coiled-coil domain 39 molecular ruler complex subunit
Upload your DNA to see your personal genotypes for variants in CCDC39.
What This Gene Does
The protein encoded by this gene is involved in the motility of cilia and flagella. The encoded protein is essential for the assembly of dynein regulatory and inner dynein arm complexes, which regulate ciliary beat. Defects in this gene are a cause of primary ciliary dyskinesia type 14 (CILD14). [provided by RefSeq, Jul 2011]
Gene Info
Gene Group
Cilia and flagella associated
Locus Type
gene with protein product
Location
3q26.33
Ensembl
ENSG00000284862
Associated Conditions (9)
Primary ciliary dyskinesia
Primary ciliary dyskinesia 14
CCDC39-related disorder
Ellis-van Creveld syndrome
Gastric cancer
Malignant tumor of esophagus
Heterotaxy
Respiratory ciliopathies including non-CF bronchiectasis
Infertility disorder
Key Variants
RS111451119
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Primary ciliary dyskinesia
Health Risk
RS1287389353
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Primary ciliary dyskinesia
Health Risk
RS139560004
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Primary ciliary dyskinesia 14, Primary ciliary dyskinesia
Health Risk
RS140505857
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia 14, Primary ciliary dyskinesia, CCDC39-related disorder
Health Risk
RS145506099
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Primary ciliary dyskinesia 14, CCDC39-related disorder
Health Risk
RS147183244
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Primary ciliary dyskinesia 14, Primary ciliary dyskinesia
Health Risk
RS147383873
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Primary ciliary dyskinesia 14, Primary ciliary dyskinesia
Health Risk
RS1717252361
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia 14, Primary ciliary dyskinesia, Primary ciliary dyskinesia 14
Health Risk
RS182803063
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Primary ciliary dyskinesia 14, Primary ciliary dyskinesia
Health Risk
RS183413880
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Primary ciliary dyskinesia 14, Primary ciliary dyskinesia
Health Risk
RS199503571
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Primary ciliary dyskinesia 14, Primary ciliary dyskinesia
Health Risk
RS199649763
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Primary ciliary dyskinesia
Health Risk
All Variants (191)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS886038751 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS886058198 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia 14, Primary ciliary dyskinesia, Primary ciliary dyskinesia 14 |
| RS1245822059 | Health Risk | Likely pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS1280721587 | Health Risk | Likely pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS1300257600 | Health Risk | Likely pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS1468349011 | Health Risk | Likely pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS1553804100 | Health Risk | Likely pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS1560079213 | Health Risk | Likely pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS1560092712 | Health Risk | Likely pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS1711543098 | Health Risk | Likely pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS1717963637 | Health Risk | Likely pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS1717971093 | Health Risk | Likely pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS1718204545 | Health Risk | Likely pathogenic | Primary ciliary dyskinesia 14, Primary ciliary dyskinesia 14 |
| RS2473778214 | Health Risk | Likely pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2473782922 | Health Risk | Likely pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2473808806 | Health Risk | Likely pathogenic | Primary ciliary dyskinesia 14, Primary ciliary dyskinesia 14 |
| RS2473823658 | Health Risk | Likely pathogenic | Primary ciliary dyskinesia 14, Primary ciliary dyskinesia 14 |
| RS2473824830 | Health Risk | Likely pathogenic | Primary ciliary dyskinesia 14, Primary ciliary dyskinesia, Primary ciliary dyskinesia 14 |
| RS2473845881 | Health Risk | Likely pathogenic | Primary ciliary dyskinesia 14, Primary ciliary dyskinesia 14 |
| RS779435800 | Health Risk | Likely pathogenic | Primary ciliary dyskinesia 14, Primary ciliary dyskinesia 14 |
| RS1007345781 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia 14, Primary ciliary dyskinesia |
| RS1047910260 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS1064796360 | Health Risk | Pathogenic | — |
| RS1164781857 | Health Risk | Pathogenic | Primary ciliary dyskinesia 14, Primary ciliary dyskinesia 14 |
| RS1168132298 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS1174553107 | Health Risk | Pathogenic | Primary ciliary dyskinesia 14, Primary ciliary dyskinesia, Primary ciliary dyskinesia 14 |
| RS1210959281 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS1253995342 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS1256848235 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS1275367324 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS1285431486 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS1292030955 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS1338737312 | Health Risk | Pathogenic | Primary ciliary dyskinesia 14, Primary ciliary dyskinesia 14 |
| RS1415205563 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS1423596492 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS1432128768 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS1472519086 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS1481266590 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS1489439743 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS1553800956 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS1553803540 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS1553804209 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS1553804220 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS1553804640 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS1553805740 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS1553805885 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS1560086701 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Heterotaxy, CCDC39-related disorder |
| RS1560090006 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS1560092160 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS1560092440 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |