Entity Details

Primary name ODAD2
Entity type gene
Source Source Link

Details

PrimaryID55130
RefseqGeneNG_042820
SymbolODAD2
Nameouter dynein arm docking complex subunit 2
Chromosome10
Location10p12.1
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2000-07-03
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsODAD2_HUMAN

GO terms

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GOName
GO:0003341 cilium movement
GO:0003356 regulation of cilium beat frequency
GO:0005930 axoneme
GO:0007368 determination of left/right symmetry
GO:0007507 heart development
GO:0021591 ventricular system development
GO:0036158 outer dynein arm assembly
GO:0097546 ciliary base

Diseases

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Disease IDSourceNameDescription
615451 OMIMCiliary 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

2 interactions

InteractorPartnerSourcesPublicationsLink
ODAD2NR4A2BioGRID, IntAct32296183 details
ODAD2HSP90B1BioGRID, IntAct30021884 details