Entity Details

Primary name DRC2_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ8IXS2
EntryNameDRC2_HUMAN
FullNameDynein regulatory complex subunit 2
TaxID9606
Evidenceevidence at protein level
Length484
SequenceStatuscomplete
DateCreated2007-04-17
DateModified2021-06-02

Ontological Relatives

GenesCCDC65

GO terms

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GOName
GO:0003352 regulation of cilium movement
GO:0005858 axonemal dynein complex
GO:0005930 axoneme
GO:0031514 motile cilium
GO:0036064 ciliary basal body
GO:0060271 cilium assembly
GO:0060285 cilium-dependent cell motility
GO:0070286 axonemal dynein complex assembly

Subcellular Location

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Subcellular Location
Cell projection
Cytoplasm

Domains

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DomainNameCategoryType
IPR039505 Dynein regulatory complex protein 1/2, N-terminalDomainDomain
IPR039750 Dynein regulatory complex proteinFamilyFamily

Diseases

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Disease IDSourceNameDescription
615504 OMIMCiliary dyskinesia, primary, 27 (CILD27)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. Cilia ultrastructure show normal outer dynein arms, radial spokes and central pairs, but a reduction in inner dynein arms and nexin links. In 5%-15% of cilia, microtubules are disorganized. Nasal epithelial cilia reveal a stiff, dyskinetic cilia waveform.

Interactions

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