Entity Details

Primary name EVC
Entity type gene
Source Source Link

Details

PrimaryID2121
RefseqGeneNG_008843
SymbolEVC
NameEvC ciliary complex subunit 1
Chromosome4
Location4p16.2
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2000-09-20
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsEVC_HUMAN

GO terms

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GOName
GO:0001501 skeletal system development
GO:0003416 endochondral bone growth
GO:0005737 cytoplasm
GO:0005929 cilium
GO:0007224 smoothened signaling pathway
GO:0007517 muscle organ development
GO:0016021 integral component of membrane
GO:0036064 ciliary basal body
GO:0045880 positive regulation of smoothened signaling pathway
GO:0051216 cartilage development
GO:0060170 ciliary membrane
GO:0098797 plasma membrane protein complex

Diseases

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Disease IDSourceNameDescription
193530 OMIMAcrofacial dysostosis, Weyers type (WAD)An autosomal dominant condition characterized by dysplastic nails, postaxial polydactyly, dental anomalies, short limbs, short stature and normal intelligence. The phenotype is milder than Ellis-van Creveld syndrome. The disease is caused by variants affecting the gene represented in this entry.
225500 OMIMEllis-van Creveld syndrome (EVC)An autosomal recessive condition characterized by the clinical tetrad of chondrodystrophy, polydactyly, ectodermal dysplasia and cardiac anomalies. Patients manifest short-limb dwarfism, short ribs, postaxial polydactyly, and dysplastic nails and teeth. Congenital heart defects, most commonly an atrioventricular septal defect, are observed in 60% of affected individuals. The disease is caused by variants affecting the gene represented in this entry.

Interactions

5 interactions

InteractorPartnerSourcesPublicationsLink
EVCUBTFBioGRID, IntAct30021884 details
EVCSHMT2BioGRID22658674 details
EVCNXF1BioGRID22658674 details
EVCHNRNPLBioGRID28611215 details
EVCVIRMABioGRID29507755 details