Entity Details

Primary name DNAH5
Entity type gene
Source Source Link

Details

PrimaryID1767
RefseqGeneNG_013081
SymbolDNAH5
Namedynein axonemal heavy chain 5
Chromosome5
Location5p15.2
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1998-12-02
ModificationDate2021-06-22

Ontological Relatives

UniProt IDsDYH5_HUMAN

GO terms

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GOName
GO:0003341 cilium movement
GO:0003351 epithelial cilium movement involved in extracellular fluid movement
GO:0005524 ATP binding
GO:0005576 extracellular region
GO:0005737 cytoplasm
GO:0005874 microtubule
GO:0005930 axoneme
GO:0007018 microtubule-based movement
GO:0007368 determination of left/right symmetry
GO:0007507 heart development
GO:0008569 minus-end-directed microtubule motor activity
GO:0021670 lateral ventricle development
GO:0030286 dynein complex
GO:0030317 flagellated sperm motility
GO:0031514 motile cilium
GO:0036157 outer dynein arm
GO:0036158 outer dynein arm assembly
GO:0045505 dynein intermediate chain binding
GO:0051649 establishment of localization in cell
GO:0051959 dynein light intermediate chain binding
GO:0060271 cilium assembly
GO:0097729 9+2 motile cilium

Diseases

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Disease IDSourceNameDescription
608644 OMIMCiliary dyskinesia, primary, 3 (CILD3)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; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients 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.