Entity Details
| Primary name |
ODAD2_HUMAN |
| Entity type |
UniProt |
| Source |
Source Link |
Details
| Accession | Q5T2S8 |
| EntryName | ODAD2_HUMAN |
| FullName | Outer dynein arm-docking complex subunit 2 |
| TaxID | 9606 |
| Evidence | evidence at protein level |
| Length | 1044 |
| SequenceStatus | complete |
| DateCreated | 2006-06-27 |
| DateModified | 2021-06-02 |
Subcellular Location
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| Subcellular Location |
| Cytoplasm |
Domains
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| Domain | Name | Category | Type |
| IPR000225 | Armadillo | Repeat | Repeat |
| IPR011989 | Armadillo-like helical | Family | Homologous superfamily |
| IPR016024 | Armadillo-type fold | Family | Homologous superfamily |
Diseases
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| Disease ID | Source | Name | Description |
| 615451 | OMIM | Ciliary dyskinesia, primary, 23 (CILD23) | A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. Patients may exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. The disease is caused by variants affecting the gene represented in this entry. Contrary to the wild-type protein, disease-causing variant Trp-927 is unable to rescue the phenotype (randomization of heart looping) of the morpholino knockdown of the orthologous protein in zebrafish (PubMed:23849778). |
Interactions
1 interaction