Version 5.4
Mus musculus Gene: Evc2
Summary
InnateDB Gene IDBG-159107.7
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol Evc2
Gene Name Ellis van Creveld syndrome 2
Synonyms 1110017L09Rik; Lbn; limbin
Species Mus musculus
Ensembl Gene ENSMUSG00000050248
Encoded Proteins
IDBP-159109
Ellis van Creveld syndrome 2 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 ENSG00000173040:
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 5:37338499-37425055
Strand Forward strand
Band B3
Transcripts
ENSMUST00000056365 ENSMUSP00000055130
ENSMUST00000101258
ENSMUST00000159915
ENSMUST00000159854
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.
Predicted by orthology
Total 2 [view]
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
Homo sapiens
Bos taurus
Gene ID
Gene Order
ENSG00000173040
View Gene Order
ENSBTAG00000004277
Not yet available
Cross-References
SwissProt Q8K1G2
TrEMBL Q3UYX2
UniProt Splice Variant
Entrez Gene 68525
UniGene Mm.25506
RefSeq NM_145920 XM_006504082
OMIM
CCDS CCDS19248
HPRD
IMGT
MGI ID MGI:1915775
MGI Symbol Evc2
EMBL AB083066 AK044977 AK134298 BC037473 BC064473
GenPept AAH37473 AAH64473 BAC06589 BAC32167 BAE22089
RNA Seq Atlas 68525

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