DSG2

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. [provided by RefSeq, Jan 2016]

Desmoglein 2

Component of intercellular desmosome junctions. Involved in the interaction of plaque proteins and intermediate filaments mediating cell-cell adhesion.

Bundle of His cell-Purkinje myocyte adhesion involved in cell communication Source: BHF-UCL
Cell adhesion Source: UniProtKB
Cell-cell adhesion Source: GO_Central
Desmosome organization Source: BHF-UCL
Homophilic cell adhesion via plasma membrane adhesion molecules Source: BHF-UCL
Purkinje myocyte development Source: BHF-UCL
Regulation of heart rate by cardiac conduction Source: BHF-UCL
Regulation of ventricular cardiac muscle cell action potential Source: BHF-UCL

Cell membrane; Desmosome

Arrhythmogenic right ventricular dysplasia, familial, 10 (ARVD10):
A congenital heart disease characterized by infiltration of adipose and fibrous tissue into the right ventricle and loss of myocardial cells, resulting in ventricular and supraventricular arrhythmias.
Cardiomyopathy, dilated 1BB (CMD1BB):
A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.

Extracellular: 50-609
Helical: 610-634
Cytoplasmic: 635-1118