Gene: DSC2

Alternate names for this Gene: ARVD11|CDHF2|DG2|DGII/III|DSC3

Gene Summary: This gene encodes a member of the desmocollin protein subfamily. Desmocollins, along with desmogleins, are cadherin-like transmembrane glycoproteins that are major components of the desmosome. Desmosomes are cell-cell junctions that help resist shearing forces and are found in high concentrations in cells subject to mechanical stress. This gene is found in a cluster with other desmocollin family members on chromosome 18. Mutations in this gene are associated with arrhythmogenic right ventricular dysplasia-11, and reduced protein expression has been described in several types of cancer. Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 18

Location in Chromosome : 18q12.1

Description of this Gene: desmocollin 2

Type of Gene: protein-coding

rs397517404 in DSC2 gene and Arrhythmogenic Right Ventricular Dysplasia PMID 21062920 2011 Mechanistic insights into arrhythmogenic right ventricular cardiomyopathy caused by desmocollin-2 mutations.

PMID 17186466 2006 Mutant desmocollin-2 causes arrhythmogenic right ventricular cardiomyopathy.

PMID 26743238 2016 Patient Outcomes From a Specialized Inherited Arrhythmia Clinic.

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

PMID 23911551 2013 Mechanistic basis of desmosome-targeted diseases.

PMID 31568572 2019 Targeted panel sequencing in pediatric primary cardiomyopathy supports a critical role of TNNI3.

PMID 31333075 2019 RIKADA Study Reveals Risk Factors in Pediatric Primary Cardiomyopathy.

rs1390387214 in DSC2 gene and Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 PMID 19863551 2010 Role of genetic testing in arrhythmogenic right ventricular cardiomyopathy/dysplasia.

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

PMID 28256248 2017 Whole-Exome Sequencing Identifies a Novel Mutation of Desmocollin 2 in a Chinese Family With Arrhythmogenic Right Ventricular Cardiomyopathy.

PMID 17033975 2006 Arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in the desmosomal gene desmocollin-2.

PMID 23911551 2013 Mechanistic basis of desmosome-targeted diseases.

PMID 23863954 2013 Homozygous founder mutation in desmocollin-2 (DSC2) causes arrhythmogenic cardiomyopathy in the Hutterite population.

PMID 18957847 2009 Homozygous mutation of desmocollin-2 in arrhythmogenic right ventricular cardiomyopathy with mild palmoplantar keratoderma and woolly hair.

PMID 28600387 2017 Genetic Testing in the Evaluation of Unexplained Cardiac Arrest: From the CASPER (Cardiac Arrest Survivors With Preserved Ejection Fraction Registry).

rs1789063 in DSC2 gene and Blood Protein Measurement PMID 29875488 2018 Genomic atlas of the human plasma proteome.