Viral Details

Viral Backbone

Human Adenovirus Type5 (dE1/E3)

Promoter

CMV

Reporter

none, optional GFP, CFP, YFP, RFP or mCherry

Storage Buffer

DMEM, 2% BSA, 2.5% Glycerol

Gene Details

Species

Human

Gene Symbol

EVC2

Gene Name

EvC ciliary complex subunit 2

Gene ID

132884

Gene Synonyms

LBN; WAD

ORF Size

3684 bp

RefSeq#

BC111455

Gene Description

EVC2 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.

UniGene ID

Hs.87306

HGNC ID

HGNC:19747