ODAD2 Chromosome 10
Outer dynein arm docking complex subunit 2
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What This Gene Does
The protein encoded by this gene contains ten Armadillo repeat motifs (ARMs) and one HEAT repeat, and is thought to be involved in ciliary and flagellar movement. This protein has been shown to localize to the ciliary axonemes and at the ciliary base of respiratory cells. Studies indicate that mutations in this gene cause partial outer dynein arm (ODA) defects in respiratory cilia. The cilia of cells with mutations in this gene displayed either reduced ciliary beat frequency and amplitude, or, complete immotility. Some individuals with primary ciliary dyskensia (PCD) have been shown to have mutations in this gene. PCD is characterized by chronic airway disease and left/right body asymmetry defects. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]
Gene Info
Gene Group
"Armadillo repeat containing|Outer dynein arm docking complex subunits"
Locus Type
gene with protein product
Location
10p12.1
Ensembl
ENSG00000169126
Associated Conditions (6)
Primary ciliary dyskinesia 23
Primary ciliary dyskinesia
ODAD2-related disorder
Malignant tumor of urinary bladder
Male infertility
Kartagener syndrome
Key Variants
RS138588942
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia 23, Primary ciliary dyskinesia, ODAD2-related disorder
Health Risk
RS140569195
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia 23, Primary ciliary dyskinesia, Primary ciliary dyskinesia 23
Health Risk
RS143215183
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia 23, Primary ciliary dyskinesia, ODAD2-related disorder
Health Risk
RS143513621
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia 23, Primary ciliary dyskinesia, Primary ciliary dyskinesia 23
Health Risk
RS145619075
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia 23, Primary ciliary dyskinesia, ODAD2-related disorder
Health Risk
RS148764188
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia 23, Primary ciliary dyskinesia, Primary ciliary dyskinesia 23
Health Risk
RS150655393
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia 23, Primary ciliary dyskinesia, Primary ciliary dyskinesia 23
Health Risk
RS181484327
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia 23, Primary ciliary dyskinesia, Primary ciliary dyskinesia 23
Health Risk
RS1848840724
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia 23, Primary ciliary dyskinesia, Primary ciliary dyskinesia 23
Health Risk
RS191594899
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia 23, Primary ciliary dyskinesia, Primary ciliary dyskinesia 23
Health Risk
RS200574441
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia 23, Primary ciliary dyskinesia, Primary ciliary dyskinesia 23
Health Risk
RS2132709474
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia 23, Primary ciliary dyskinesia, Primary ciliary dyskinesia 23
Health Risk
All Variants (56)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS138588942 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia 23, Primary ciliary dyskinesia, ODAD2-related disorder |
| RS140569195 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia 23, Primary ciliary dyskinesia, Primary ciliary dyskinesia 23 |
| RS143215183 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia 23, Primary ciliary dyskinesia, ODAD2-related disorder |
| RS143513621 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia 23, Primary ciliary dyskinesia, Primary ciliary dyskinesia 23 |
| RS145619075 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia 23, Primary ciliary dyskinesia, ODAD2-related disorder |
| RS148764188 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia 23, Primary ciliary dyskinesia, Primary ciliary dyskinesia 23 |
| RS150655393 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia 23, Primary ciliary dyskinesia, Primary ciliary dyskinesia 23 |
| RS181484327 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia 23, Primary ciliary dyskinesia, Primary ciliary dyskinesia 23 |
| RS1848840724 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia 23, Primary ciliary dyskinesia, Primary ciliary dyskinesia 23 |
| RS191594899 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia 23, Primary ciliary dyskinesia, Primary ciliary dyskinesia 23 |
| RS200574441 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia 23, Primary ciliary dyskinesia, Primary ciliary dyskinesia 23 |
| RS2132709474 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia 23, Primary ciliary dyskinesia, Primary ciliary dyskinesia 23 |
| RS1237311934 | Health Risk | Likely pathogenic | Primary ciliary dyskinesia 23, Primary ciliary dyskinesia 23 |
| RS149274011 | Health Risk | Likely pathogenic | Primary ciliary dyskinesia 23, Primary ciliary dyskinesia 23 |
| RS1554822213 | Health Risk | Likely pathogenic | Primary ciliary dyskinesia 23, Primary ciliary dyskinesia 23 |
| RS1564439559 | Health Risk | Likely pathogenic | Male infertility, Primary ciliary dyskinesia, Male infertility |
| RS1564526396 | Health Risk | Likely pathogenic | Primary ciliary dyskinesia 23, Primary ciliary dyskinesia 23 |
| RS2133342065 | Health Risk | Likely pathogenic | Primary ciliary dyskinesia 23, Primary ciliary dyskinesia 23 |
| RS2493662614 | Health Risk | Likely pathogenic | Primary ciliary dyskinesia 23, Primary ciliary dyskinesia 23 |
| RS988722926 | Health Risk | Likely pathogenic | Primary ciliary dyskinesia 23, Primary ciliary dyskinesia 23 |
| RS1175750984 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS1229705288 | Health Risk | Pathogenic | Primary ciliary dyskinesia 23, Primary ciliary dyskinesia 23 |
| RS1277709050 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS138508233 | Health Risk | Pathogenic | — |
| RS1409069267 | Health Risk | Pathogenic | Primary ciliary dyskinesia 23, Primary ciliary dyskinesia 23 |
| RS1436932284 | Health Risk | Pathogenic | Primary ciliary dyskinesia 23, Primary ciliary dyskinesia 23 |
| RS145742175 | Health Risk | Pathogenic | Primary ciliary dyskinesia 23, Primary ciliary dyskinesia 23 |
| RS1588663203 | Health Risk | Pathogenic | Primary ciliary dyskinesia 23, Primary ciliary dyskinesia 23 |
| RS1839989630 | Health Risk | Pathogenic | Primary ciliary dyskinesia 23, Primary ciliary dyskinesia 23 |
| RS1849710760 | Health Risk | Pathogenic | Primary ciliary dyskinesia 23, Primary ciliary dyskinesia 23 |
| RS2494378551 | Health Risk | Pathogenic | Primary ciliary dyskinesia 23, Primary ciliary dyskinesia 23 |
| RS2494378840 | Health Risk | Pathogenic | Primary ciliary dyskinesia 23, Primary ciliary dyskinesia 23 |
| RS2494438272 | Health Risk | Pathogenic | Primary ciliary dyskinesia 23, Primary ciliary dyskinesia 23 |
| RS369669370 | Health Risk | Pathogenic | Primary ciliary dyskinesia 23, ODAD2-related disorder, Primary ciliary dyskinesia 23 |
| RS587777048 | Health Risk | Pathogenic | Primary ciliary dyskinesia 23, Primary ciliary dyskinesia 23 |
| RS587777049 | Health Risk | Pathogenic | Primary ciliary dyskinesia 23, Primary ciliary dyskinesia 23 |
| RS587777199 | Health Risk | Pathogenic | Primary ciliary dyskinesia 23, Primary ciliary dyskinesia, Primary ciliary dyskinesia 23 |
| RS747965765 | Health Risk | Pathogenic | Primary ciliary dyskinesia 23, Primary ciliary dyskinesia 23 |
| RS752348839 | Health Risk | Pathogenic | Primary ciliary dyskinesia 23, Primary ciliary dyskinesia 23 |
| RS753602333 | Health Risk | Pathogenic | Primary ciliary dyskinesia 23, Primary ciliary dyskinesia 23 |
| RS759966765 | Health Risk | Pathogenic | Primary ciliary dyskinesia 23, Primary ciliary dyskinesia 23 |
| RS764402372 | Health Risk | Pathogenic | Primary ciliary dyskinesia 23, Primary ciliary dyskinesia 23 |
| RS768002030 | Health Risk | Pathogenic | Primary ciliary dyskinesia 23, Primary ciliary dyskinesia 23 |
| RS768447289 | Health Risk | Pathogenic | Primary ciliary dyskinesia 23, Primary ciliary dyskinesia 23 |
| RS769346541 | Health Risk | Pathogenic | Primary ciliary dyskinesia 23, Primary ciliary dyskinesia 23 |
| RS771640361 | Health Risk | Pathogenic | Primary ciliary dyskinesia 23, Primary ciliary dyskinesia 23 |
| RS771920114 | Health Risk | Pathogenic | Primary ciliary dyskinesia 23, Primary ciliary dyskinesia 23 |
| RS774979481 | Health Risk | Pathogenic | Primary ciliary dyskinesia 23, Primary ciliary dyskinesia 23 |
| RS780697353 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS868755574 | Health Risk | Pathogenic | Primary ciliary dyskinesia 23, Primary ciliary dyskinesia 23 |