Version 5.4
Bos taurus Gene: EVC2
Summary
InnateDB Gene IDBG-643410.3
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol EVC2
Gene Name limbin
Synonyms LBN
Species Bos taurus
Ensembl Gene ENSBTAG00000004277
Encoded Proteins
IDBP-695997
limbin
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 6:105291556-105452049
Strand Forward strand
Band
Transcripts
ENSBTAT00000005613 ENSBTAP00000005613
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 1 interaction(s) predicted by orthology.
Predicted by orthology
Total 1 [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:0005929 cilium
Orthologs
Species
Homo sapiens
Mus musculus
Gene ID
Gene Order
ENSG00000173040
View Gene Order
ENSMUSG00000050248
View Gene Order
Cross-References
SwissProt
TrEMBL E1BES3
UniProt Splice Variant
Entrez Gene 280834
UniGene Bt.12293
RefSeq
HUGO
OMIM
CCDS
HPRD
IMGT
EMBL DAAA02018382 DAAA02018383 DAAA02018384 DAAA02018385 DAAA02018386 DAAA02018387 DAAA02018388 DAAA02018389 DAAA02018390 DAAA02018391 DAAA02018392 DAAA02018393 DAAA02018394
GenPept
RNA Seq Atlas 280834

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