Version 5.4
Homo sapiens Gene: EVC
Summary
InnateDB Gene IDBG-8762.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol EVC
Gene Name Ellis van Creveld syndrome
Synonyms DWF-1; EVC1; EVCL
Species Homo sapiens
Ensembl Gene ENSG00000072840
Encoded Proteins
IDBP-8766
Ellis van Creveld syndrome
IDBP-483365
Ellis van Creveld syndrome
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes a protein containing a leucine zipper and a transmembrane domain. This gene has been implicated in both Ellis-van Creveld syndrome (EvC) and Weyers acrodental dysostosis. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 4:5711197-5814305
Strand Forward strand
Band p16.2
Transcripts
ENST00000264956 ENSP00000264956
ENST00000509451 ENSP00000426774
ENST00000514919
ENST00000506240
ENST00000515113
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
Cellular Component
GO:0005737 cytoplasm
GO:0005929 cilium
GO:0016021 integral component of membrane
GO:0036064 ciliary basal body
GO:0060170 ciliary membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000029122
View Gene Order
ENSBTAG00000004287
Not yet available
Cross-References
SwissProt
TrEMBL E9PCN4 Q4W5A3
UniProt Splice Variant
Entrez Gene 2121
UniGene Hs.646899
RefSeq XM_005247952 NM_153717 XM_006713865 XM_006713866 XM_006713867
HUGO HGNC:3497
OMIM 604831
CCDS CCDS3383
HPRD 05319
IMGT
EMBL AC105915 AC116613
GenPept AAY41049
RNA Seq Atlas 2121

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