DNAI2 Chromosome 17
Dynein axonemal intermediate chain 2
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What This Gene Does
The protein encoded by this gene belongs to the dynein intermediate chain family, and is part of the dynein complex of respiratory cilia and sperm flagella. Mutations in this gene are associated with primary ciliary dyskinesia type 9. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Mar 2010]
Gene Info
Gene Group
"WD repeat domain containing|Dyneins, axonemal outer arm complex subunits"
Locus Type
gene with protein product
Location
17q25.1
Ensembl
ENSG00000171595
Associated Conditions (7)
Primary ciliary dyskinesia
Primary ciliary dyskinesia 9
Thyroid cancer
nonmedullary
1
DNAI2-related disorder
Respiratory ciliopathies including non-CF bronchiectasis
Key Variants
RS115299472
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Primary ciliary dyskinesia 9, Thyroid cancer
Health Risk
RS139935771
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Primary ciliary dyskinesia
Health Risk
RS140326154
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia 9, Primary ciliary dyskinesia, Primary ciliary dyskinesia 9
Health Risk
RS141079076
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Primary ciliary dyskinesia
Health Risk
RS142656395
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Primary ciliary dyskinesia 9, Primary ciliary dyskinesia
Health Risk
RS143723454
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Primary ciliary dyskinesia 9, Primary ciliary dyskinesia
Health Risk
RS144786630
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Primary ciliary dyskinesia 9, Primary ciliary dyskinesia
Health Risk
RS145602856
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Primary ciliary dyskinesia 9, Primary ciliary dyskinesia
Health Risk
RS146462823
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Primary ciliary dyskinesia 9, DNAI2-related disorder
Health Risk
RS146769635
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Primary ciliary dyskinesia
Health Risk
RS147470752
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Primary ciliary dyskinesia 9, DNAI2-related disorder
Health Risk
RS148073122
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Primary ciliary dyskinesia 9, Primary ciliary dyskinesia
Health Risk
All Variants (128)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2143940594 | Health Risk | Likely pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2144077639 | Health Risk | Likely pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2509681813 | Health Risk | Likely pathogenic | Primary ciliary dyskinesia 9, Primary ciliary dyskinesia 9 |
| RS2509693120 | Health Risk | Likely pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2509752143 | Health Risk | Likely pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2509762743 | Health Risk | Likely pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2509773839 | Health Risk | Likely pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2509773849 | Health Risk | Likely pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2509774595 | Health Risk | Likely pathogenic | Primary ciliary dyskinesia 9, Primary ciliary dyskinesia 9 |
| RS745755917 | Health Risk | Likely pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia 9, Primary ciliary dyskinesia |
| RS758109864 | Health Risk | Likely pathogenic | Primary ciliary dyskinesia, Respiratory ciliopathies including non-CF bronchiectasis, Primary ciliary dyskinesia 9 |
| RS766662586 | Health Risk | Likely pathogenic | Primary ciliary dyskinesia 9, Primary ciliary dyskinesia 9 |
| RS776777011 | Health Risk | Likely pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS1060502202 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS1183237509 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS1194460219 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS1242821238 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS1374403931 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS137852998 | Health Risk | Pathogenic | Primary ciliary dyskinesia 9, Primary ciliary dyskinesia, Primary ciliary dyskinesia 9 |
| RS141581673 | Health Risk | Pathogenic | Primary ciliary dyskinesia, DNAI2-related disorder, Primary ciliary dyskinesia |
| RS1555614910 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS1567840448 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS1598330492 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS1598342751 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2051791551 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2051792816 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2053123483 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2053367000 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2053427700 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2053566684 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2053693881 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2143903171 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2144026301 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2144035068 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2144105381 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2144112404 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2144112583 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2144113081 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2509682200 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2509692411 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2509692803 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2509693023 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2509710080 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2509734575 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2509737683 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2509752180 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2509752841 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2509762865 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2509766413 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2509766795 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |