EVC2

GENE INFORMATION

? »

Gene name

EVC2 (HGNC Symbol)

Synonyms

LBN

Description

Ellis van Creveld syndrome 2 (HGNC Symbol)

Entrez gene summary

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]

Chromosome

4

Cytoband

p16.2

Chromosome location (bp)

5542772 - 5709548

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000173040 (version 78.38)

Entrez gene

132884

UniProt

Q86UK5 (UniProt - Evidence at protein level)

neXtProt

NX_Q86UK5

Antibodypedia

EVC2 antibodies
 

PROTEIN VIEW

? »
 
 
 
EVC2-001
 
EVC2-003
 
 
 
 
 

PROTEIN INFORMATION

? »

Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

EVC2-001 ENSP00000311683
ENST00000310917
Q86UK5
Show all »
Show » Show » 1228 139.9 No 1
EVC2-003 ENSP00000342144
ENST00000344408
Q86UK5
Show all »
Show » Show » 1308 147.9 Yes 1