Version 5.4
Homo sapiens Gene: EVC2
Summary
InnateDB Gene IDBG-8702.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol EVC2
Gene Name Ellis van Creveld syndrome 2
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000173040
Encoded Proteins
IDBP-8708
Ellis van Creveld syndrome 2
IDBP-8712
Ellis van Creveld syndrome 2
IDBP-598481
Ellis van Creveld syndrome 2
IDBP-479709
Ellis van Creveld syndrome 2
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes a protein that functions in bone formation and skeletal development. Mutations in this gene, as well as in a neighboring gene that lies in a head-to-head configuration, cause Ellis-van Creveld syndrome, an autosomal recessive skeletal dysplasia that is also known as chondroectodermal dysplasia. Mutations in this gene also cause acrofacial dysostosis Weyers type, also referred to as Curry-Hall syndrome, a disease that combines limb and facial abnormalities. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
Gene Information
Type Protein coding
Genomic Location Chromosome 4:5542772-5709548
Strand Reverse strand
Band p16.2
Transcripts
ENST00000310917 ENSP00000311683
ENST00000344408 ENSP00000342144
ENST00000475313 ENSP00000431981
ENST00000509670 ENSP00000423876
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
GO:0005515 protein binding
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
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000050248
View Gene Order
ENSBTAG00000004277
Not yet available
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.605032 Hs.87306
RefSeq NM_001166136 NM_147127 XM_006713859 XM_006713860
HUGO
OMIM
CCDS CCDS3382 CCDS54718
HPRD 06269
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca