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

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

rs121913010 in DSG2;DSG2-AS1 gene and Arrhythmogenic Right Ventricular Dysplasia PMID 16773573 2006 DSG2 mutations contribute to arrhythmogenic right ventricular dysplasia/cardiomyopathy.

PMID 20031617 2009 Comprehensive desmosome mutation analysis in north americans with arrhythmogenic right ventricular dysplasia/cardiomyopathy.

PMID 18382419 2008 Mechanisms of disease: molecular genetics of arrhythmogenic right ventricular dysplasia/cardiomyopathy.

rs121913010 in DSG2;DSG2-AS1 gene and Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 PMID 27854360 2017 Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.

PMID 25356965 2015 ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.

PMID 20031617 2009 Comprehensive desmosome mutation analysis in north americans with arrhythmogenic right ventricular dysplasia/cardiomyopathy.

PMID 21062920 2011 Mechanistic insights into arrhythmogenic right ventricular cardiomyopathy caused by desmocollin-2 mutations.

PMID 19863551 2010 Role of genetic testing in arrhythmogenic right ventricular cardiomyopathy/dysplasia.

PMID 16773573 2006 DSG2 mutations contribute to arrhythmogenic right ventricular dysplasia/cardiomyopathy.

PMID 23788249 2013 ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.

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

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

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