Gene: DSG2-AS1

Alternate names for this Gene: -

Gene Summary:

Gene is located in Chromosome: 18

Location in Chromosome : 18q12.1

Description of this Gene: DSG2 antisense RNA 1

Type of Gene: ncRNA

Gene: DSG2

Alternate names for this Gene: CDHF5|HDGC

Gene Summary: This gene encodes a member of the desmoglein family and cadherin cell adhesion molecule superfamily of proteins. Desmogleins are calcium-binding transmembrane glycoprotein components of desmosomes, cell-cell junctions between epithelial, myocardial, and other cell types. The encoded preproprotein is proteolytically processed to generate the mature glycoprotein. This gene is present in a gene cluster with other desmoglein gene family members on chromosome 18. Mutations in this gene have been associated with arrhythmogenic right ventricular dysplasia, familial, 10.

Gene is located in Chromosome: 18

Location in Chromosome : 18q12.1

Description of this Gene: desmoglein 2

Type of Gene: protein-coding

rs1375081885 in DSG2-AS1;DSG2 gene and Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 PMID 20864495 2010 Wide spectrum of desmosomal mutations in Danish patients with arrhythmogenic right ventricular cardiomyopathy.

PMID 23381804 2013 Mutated desmoglein-2 proteins are incorporated into desmosomes and exhibit dominant-negative effects in arrhythmogenic right ventricular cardiomyopathy.

PMID 21397041 2011 Population-prevalent desmosomal mutations predisposing to arrhythmogenic right ventricular cardiomyopathy.

rs397516706 in DSG2-AS1;DSG2 gene and Cardiomyopathy, Dilated PMID 21397041 2011 Population-prevalent desmosomal mutations predisposing to arrhythmogenic right ventricular cardiomyopathy.

PMID 20864495 2010 Wide spectrum of desmosomal mutations in Danish patients with arrhythmogenic right ventricular cardiomyopathy.

PMID 23381804 2013 Mutated desmoglein-2 proteins are incorporated into desmosomes and exhibit dominant-negative effects in arrhythmogenic right ventricular cardiomyopathy.