Version 5.4
Mus musculus Protein: Evc2
Summary
InnateDB Protein IDBP-159109.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol Evc2
Protein Name Ellis van Creveld syndrome 2 homolog (human)
Synonyms 1110017L09Rik; Lbn; limbin;
Species Mus musculus
Ensembl Protein ENSMUSP00000055130
InnateDB Gene IDBG-159107 (Evc2)
Protein Structure
UniProt Annotation
Function Positive regulator of the hedgehog signaling pathway. Plays a critical role in bone formation and skeletal development. May be involved in early embryonic morphogenesis. {ECO:0000269PubMed:21356043}.
Subcellular Localization Cell membrane {ECO:0000269PubMed:21356043}; Single-pass type I membrane protein {ECO:0000269PubMed:21356043}. Cytoplasm, cytoskeleton, cilium basal body {ECO:0000269PubMed:21356043}. Cell projection, cilium {ECO:0000269PubMed:21356043}. Cell projection, cilium membrane {ECO:0000269PubMed:21356043}. Nucleus {ECO:0000269PubMed:21356043}.
Disease Associations
Tissue Specificity Expressed in long and cranial bones, kidney and heart. Strongly expressed in proliferating chondrocytes, osteoblasts and osteoclasts. {ECO:0000269PubMed:12136126}.
Comments
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
Protein Structure and Domains
PDB ID MGI:1915775
InterPro IPR022076 Limbin
PFAM PF12297
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q8K1G2
PhosphoSite PhosphoSite-Q8K1G2
TrEMBL Q3UYX2
UniProt Splice Variant
Entrez Gene 68525
UniGene Mm.25506
RefSeq NP_666032
MGI ID
MGI Symbol Evc2
OMIM
CCDS CCDS19248
HPRD
IMGT
EMBL AB083066 AK044977 AK134298 BC037473 BC064473
GenPept AAH37473 AAH64473 BAC06589 BAC32167 BAE22089

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