Gene: VCAN-AS1

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

Gene: VCAN

Alternate names for this Gene: CSPG2|ERVR|GHAP|PG-M|WGN|WGN1

Gene Summary: This gene is a member of the aggrecan/versican proteoglycan family. The protein encoded is a large chondroitin sulfate proteoglycan and is a major component of the extracellular matrix. This protein is involved in cell adhesion, proliferation, proliferation, migration and angiogenesis and plays a central role in tissue morphogenesis and maintenance. Mutations in this gene are the cause of Wagner syndrome type 1. Multiple transcript variants encoding different isoforms have been found for this gene.

Gene is located in Chromosome: 5

Location in Chromosome : 5q14.2-q14.3

Description of this Gene: versican

Type of Gene: protein-coding

rs397515437 in VCAN-AS1;VCAN gene and Hyaloideoretinal degeneration of Wagner PMID 22739342 2013 Novel VCAN mutations and evidence for unbalanced alternative splicing in the pathogenesis of Wagner syndrome.

PMID 23462753 2013 Targeted sequencing of 179 genes associated with hereditary retinal dystrophies and 10 candidate genes identifies novel and known mutations in patients with various retinal diseases.

PMID 16877430 2006 Erosive vitreoretinopathy and wagner disease are caused by intronic mutations in CSPG2/Versican that result in an imbalance of splice variants.

PMID 21738396 2011 A new VCAN/versican splice acceptor site mutation in a French Wagner family associated with vascular and inflammatory ocular features.

PMID 16043844 2005 Identification of a novel splice site mutation of the CSPG2 gene in a Japanese family with Wagner syndrome.

rs10514258 in VCAN-AS1;VCAN gene and Polycystic Ovary Syndrome PMID 21151128 2011 Genome-wide association study identifies susceptibility loci for polycystic ovary syndrome on chromosome 2p16.3, 2p21 and 9q33.3.