Entity Details

Primary name CCDC40
Entity type gene
Source Source Link

Details

PrimaryID55036
RefseqGeneNG_029761
SymbolCCDC40
Namecoiled-coil domain containing 40
Chromosome17
Location17q25.3
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2000-07-03
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsCCD40_HUMAN

GO terms

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GOName
GO:0001947 heart looping
GO:0003341 cilium movement
GO:0003351 epithelial cilium movement involved in extracellular fluid movement
GO:0003356 regulation of cilium beat frequency
GO:0005576 extracellular region
GO:0005737 cytoplasm
GO:0005929 cilium
GO:0005930 axoneme
GO:0030317 flagellated sperm motility
GO:0030324 lung development
GO:0035082 axoneme assembly
GO:0035469 determination of pancreatic left/right asymmetry
GO:0036159 inner dynein arm assembly
GO:0044458 motile cilium assembly
GO:0060287 epithelial cilium movement involved in determination of left/right asymmetry
GO:0070286 axonemal dynein complex assembly
GO:0071907 determination of digestive tract left/right asymmetry
GO:0071910 determination of liver left/right asymmetry

Diseases

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Disease IDSourceNameDescription
613808 OMIMCiliary dyskinesia, primary, 15 (CILD15)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. The disease is characterized by primary ciliary dyskinesia with inner dynein arm (IDA) defects and axonemal dizorganisation: defects in CCDC39 and CCDC40 constitute the major cause of this phenotype.

Interactions

32 interactions

InteractorPartnerSourcesPublicationsLink
CCDC40CYTH4IntAct32296183 details
CCDC40APPBioGRID21832049 details
CCDC40CENPHBioGRID, IntAct27173435 28514442 unassigned1312 details
CCDC40GTF2H2CBioGRID, IntAct27173435 unassigned1312 details
CCDC40GTF2H2C_2IntAct27173435 unassigned1312 details
CCDC40VAPABioGRID, IntAct27173435 unassigned1312 details
CCDC40VAPBBioGRID, IntAct27173435 unassigned1312 details
CCDC40IFT122BioGRID, IntAct27173435 unassigned1312 details
CCDC40PACRGBioGRID, IntAct27173435 unassigned1312 details
CCDC40DCAF7BioGRID, IntAct27173435 unassigned1312 details
CCDC40TTC21BBioGRID, IntAct27173435 unassigned1312 details
CCDC40IFT43BioGRID, IntAct27173435 unassigned1312 details
CCDC40DISC1IntAct31413325 details
CCDC40CYTH1BioGRID, IntAct28514442 details
CCDC40HMMRBioGRID, IntAct28514442 details
CCDC40ANKRD26BioGRID, IntAct28514442 details
CCDC40COG4BioGRID, IntAct28514442 details
CCDC40FAM83DBioGRID, IntAct28514442 details
CCDC40CYTH2BioGRID, IntAct28514442 details
CCDC40TNIP2BioGRID, IntAct28514442 details
CCDC40KIAA0319LBioGRID, IntAct28514442 details
CCDC40VPS53BioGRID, IntAct28514442 details
CCDC40TMTC4BioGRID, IntAct28514442 details
CCDC40PCM1BioGRID, IntAct28514442 details
CCDC40STIM1BioGRID, IntAct28514442 details
CCDC40PSMC3BioGRID, IntAct28514442 details
CCDC40POTEIBioGRID, IntAct28514442 details
CCDC40UNC13BBioGRID, IntAct28514442 details
CCDC40TRAF5BioGRID, IntAct28514442 details
CCDC40PSMD9BioGRID, IntAct28514442 details
CCDC40HNRNPCBioGRID, IntAct30021884 details
CCDC40CITBioGRID31586073 details