DNAAF2 Chromosome 14
Dynein axonemal assembly factor 2
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What This Gene Does
This gene encodes a highly conserved protein involved in the preassembly of dynein arm complexes which power cilia. These complexes are found in some cilia and are assembled in the cytoplasm prior to transport for cilia formation. Mutations in this gene have been associated with primary ciliary dyskinesia. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2009]
Gene Info
Gene Group
Axonemal dynein assembly factors
Locus Type
gene with protein product
Location
14q21.3
Ensembl
ENSG00000165506
Associated Conditions (4)
Primary ciliary dyskinesia
Primary ciliary dyskinesia 10
DNAAF2-related disorder
Kartagener syndrome
Key Variants
RS1024449397
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Primary ciliary dyskinesia
Health Risk
RS112700048
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Primary ciliary dyskinesia 10, Primary ciliary dyskinesia
Health Risk
RS138511448
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Primary ciliary dyskinesia 10, DNAAF2-related disorder
Health Risk
RS140997181
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Primary ciliary dyskinesia 10, Primary ciliary dyskinesia
Health Risk
RS143210369
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia 10, Primary ciliary dyskinesia, DNAAF2-related disorder
Health Risk
RS144077436
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Primary ciliary dyskinesia 10, Primary ciliary dyskinesia
Health Risk
RS145008882
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia 10, Primary ciliary dyskinesia, Primary ciliary dyskinesia 10
Health Risk
RS148936584
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Primary ciliary dyskinesia
Health Risk
RS1555327430
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Primary ciliary dyskinesia
Health Risk
RS181040532
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia 10, Primary ciliary dyskinesia, Primary ciliary dyskinesia 10
Health Risk
RS187863107
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Primary ciliary dyskinesia 10, Primary ciliary dyskinesia
Health Risk
RS200121200
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia 10, Primary ciliary dyskinesia, DNAAF2-related disorder
Health Risk
All Variants (74)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1555328047 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS1555328087 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS1555328130 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS1566513076 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS1594608287 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2139581674 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2139584419 | Health Risk | Pathogenic | Primary ciliary dyskinesia 10, Primary ciliary dyskinesia 10 |
| RS2502756510 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2502766502 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2502768385 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2502768696 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2502768785 | Health Risk | Pathogenic | Primary ciliary dyskinesia 10, Primary ciliary dyskinesia 10 |
| RS397515341 | Health Risk | Pathogenic | Primary ciliary dyskinesia 10, Kartagener syndrome, Primary ciliary dyskinesia 10 |
| RS752795172 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS758230960 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS767450283 | Health Risk | Pathogenic | Primary ciliary dyskinesia 10, Primary ciliary dyskinesia, Primary ciliary dyskinesia 10 |
| RS770045708 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS777108430 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS780453315 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS867153082 | Health Risk | Pathogenic | Primary ciliary dyskinesia 10, Primary ciliary dyskinesia 10 |
| RS1267718786 | Health Risk | Pathogenic/Likely pathogenic | Primary ciliary dyskinesia, DNAAF2-related disorder, Primary ciliary dyskinesia |
| RS139416233 | Health Risk | Pathogenic/Likely pathogenic | Primary ciliary dyskinesia, DNAAF2-related disorder, Primary ciliary dyskinesia |
| RS748693944 | Health Risk | Pathogenic/Likely pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia 10, Primary ciliary dyskinesia |
| RS902156961 | Health Risk | Pathogenic/Likely pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia 10, Primary ciliary dyskinesia |