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 10 and Cardiomyopathy, Dilated, 1Bb. Among its related pathways are Arrhythmogenic right ventricular cardiomyopathy (ARVC) and CDK-mediated phosphorylation and removal of Cdc6. 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.