InnateDB Protein
|
IDBP-8708.6
|
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
|
ENSP00000311683
|
InnateDB Gene
|
IDBG-8702 (EVC2)
|
Protein Structure
|
|
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 |
|
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
|
|
|
|
Molecular Function |
|
Biological Process |
|
Cellular Component |
|
PDB ID |
|
InterPro |
IPR022076
Limbin
IPR029044
Nucleotide-diphospho-sugar transferases
|
PFAM |
PF12297
|
PRINTS |
|
PIRSF |
|
SMART |
|
TIGRFAMs |
|
Modification |
|
SwissProt |
Q86UK5
|
PhosphoSite |
PhosphoSite-Q86UK5
|
TrEMBL |
Q4W5B1
|
UniProt Splice Variant |
|
Entrez Gene |
132884
|
UniGene |
Hs.87306
|
RefSeq |
NP_001159608
|
HUGO |
HGNC:19747
|
OMIM |
607261
|
CCDS |
CCDS54718
|
HPRD |
06269
|
IMGT |
|
EMBL |
AB083067
AC114738
AC116613
AY152402
AY152403
AY185210
|
GenPept |
AAN86577
AAN86578
AAO22066
AAY41034
AAY41048
BAC06590
|
|
|