InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: EVC

Summary

InnateDB Protein

IDBP-8766.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

EVC

Protein Name

Ellis van Creveld syndrome

Synonyms

DWF-1; EVC1; EVCL;

Species

Homo sapiens

Ensembl Protein

ENSP00000264956

InnateDB Gene

IDBG-8762 (EVC)

Protein Structure

UniProt Annotation

Function

Acts as a positive mediator of Hedgehog signaling indispensable for normal endochondral growth and skeletal development. {ECO:0000250}.

Subcellular Localization

Cell membrane {ECO:0000250}; Single-pass membrane protein {ECO:0000250}. Cytoplasm, cytoskeleton, cilium basal body {ECO:0000250}. Cell projection, cilium {ECO:0000250}. Cell projection, cilium membrane {ECO:0000250}. Note=EVC2 is required for the localization of EVC at the base of primary cilia. {ECO:0000250}.

Disease Associations

Ellis-van Creveld syndrome (EVC) [MIM:225500]: 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. {ECO:0000269PubMed:10700184, ECO:0000269PubMed:18947413, ECO:0000269PubMed:19744229}. Note=The disease is caused by mutations affecting the gene represented in this entry.Acrofacial dysostosis, Weyers type (WAD) [MIM:193530]: 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. {ECO:0000269PubMed:10700184}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Found in the developing vertebral bodies, ribs, upper and lower limbs, heart, kidney, lung.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.

Experimentally validated
Total	1 [view]
Protein-Protein	0
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005515	protein binding

Biological Process

GO:0001501	skeletal system development
GO:0003416	endochondral bone growth
GO:0007224	smoothened signaling pathway
GO:0007517	muscle organ development
GO:0045880	positive regulation of smoothened signaling pathway
GO:0051216	cartilage development