Version 5.4
Mus musculus Gene: Evc
Summary
InnateDB Gene IDBG-158980.7
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol Evc
Gene Name Ellis van Creveld gene syndrome
Synonyms
Species Mus musculus
Ensembl Gene ENSMUSG00000029122
Encoded Proteins
IDBP-158982
Ellis van Creveld gene homolog (human)
IDBP-252361
Ellis van Creveld gene homolog (human)
IDBP-252363
Ellis van Creveld gene homolog (human)
IDBP-532250
Ellis van Creveld gene homolog (human)
IDBP-542199
Ellis van Creveld gene homolog (human)
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000072840:
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 5:37289098-37336894
Strand Reverse strand
Band B3
Transcripts
ENSMUST00000031005 ENSMUSP00000031005
ENSMUST00000114154 ENSMUSP00000109791
ENSMUST00000114148 ENSMUSP00000109785
ENSMUST00000146568 ENSMUSP00000114825
ENSMUST00000149890
ENSMUST00000139550 ENSMUSP00000120191
ENSMUST00000154885
ENSMUST00000124426
ENSMUST00000133376
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 1 [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:0003416 endochondral bone growth
GO:0007224 smoothened signaling pathway
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
Homo sapiens
Bos taurus
Gene ID
Gene Order
ENSG00000072840
View Gene Order
ENSBTAG00000004287
Not yet available
Cross-References
SwissProt P57680
TrEMBL E9Q2E6 L7P9J5
UniProt Splice Variant
Entrez Gene 59056
UniGene Mm.23592 Mm.479678
RefSeq NM_021292
OMIM
CCDS CCDS19247
HPRD
IMGT
MGI ID MGI:1890596
MGI Symbol Evc
EMBL AC111129 AJ250841 JQ599253
GenPept AFQ98281 CAB76567 CAB76568
RNA Seq Atlas 59056

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