Aliases for DSG2 Gene
External Ids for DSG2 Gene
Previous GeneCards Identifiers for DSG2 Gene
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]
GeneCards Summary for DSG2 Gene
DSG2 (Desmoglein 2) is a Protein Coding gene. Diseases associated with DSG2 include Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 and Cardiomyopathy, Dilated, 1Bb. Among its related pathways are Apoptotic cleavage of cellular proteins and Arrhythmogenic right ventricular cardiomyopathy (ARVC). Gene Ontology (GO) annotations related to this gene include calcium ion binding and cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication. An important paralog of this gene is DSG4.
UniProtKB/Swiss-Prot for DSG2 Gene
Component of intercellular desmosome junctions. Involved in the interaction of plaque proteins and intermediate filaments mediating cell-cell adhesion.