InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: EVC2

Summary

InnateDB Protein

IDBP-598481.3

Last Modified

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

Gene Symbol

EVC2

Protein Name

Ellis van Creveld syndrome 2

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000431981

InnateDB Gene

IDBG-8702 (EVC2)

Protein Structure

UniProt Annotation

Function

Positive regulator of the hedgehog signaling pathway (By similarity). Plays a critical role in bone formation and skeletal development. {ECO:0000250}.

Subcellular Localization

Cell membrane {ECO:0000250}; Single-pass type I membrane protein {ECO:0000250}. Cytoplasm, cytoskeleton, cilium basal body {ECO:0000250}. Cell projection, cilium {ECO:0000250}. Cell projection, cilium membrane {ECO:0000250}. Nucleus {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:12468274, ECO:0000269PubMed:12571802}. 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. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Found in the heart, placenta, lung, liver, skeletal muscle, kidney and pancreas. {ECO:0000269PubMed:12468274}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.

Experimentally validated
Total	3 [view]
Protein-Protein	3 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession

GO Term

Biological Process

GO:0007224

smoothened signaling pathway

Cellular Component

GO:0005634	nucleus
GO:0005737	cytoplasm
GO:0005856	cytoskeleton
GO:0005929	cilium
GO:0016021	integral component of membrane
GO:0060170	ciliary membrane

Protein Structure and Domains

PDB ID

InterPro

IPR022076 Limbin
IPR029044 Nucleotide-diphospho-sugar transferases

PFAM

PF12297

PRINTS

PIRSF

SMART

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

Q86UK5

PhosphoSite

PhosphoSite-Q86UK5

TrEMBL

Q4W5A4

UniProt Splice Variant

Entrez Gene

132884

UniGene

Hs.87306

RefSeq

HUGO

HGNC:19747

OMIM

607261

CCDS

HPRD

06269

IMGT

EMBL

AB083067 AC116613 AY152402 AY152403 AY185210

GenPept

AAN86577 AAN86578 AAO22066 AAY41048 BAC06590