DSC2

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. [provided by RefSeq, Feb 2015]

Desmocollin 2

Component of intercellular desmosome junctions. Involved in the interaction of plaque proteins and intermediate filaments mediating cell-cell adhesion. May contribute to epidermal cell positioning (stratification) by mediating differential adhesiveness between cells that express different isoforms.

Bundle of His cell-Purkinje myocyte adhesion involved in cell communication Source: BHF-UCL
Cardiac muscle cell-cardiac muscle cell adhesion Source: UniProtKB
Cell adhesion Source: ProtInc
Cell-cell adhesion Source: GO_Central
Homophilic cell adhesion via plasma membrane adhesion molecules Source: InterPro
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, 11 (ARVD11):
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.

Extracellular: 136-694
Helical: 695-715
Cytoplasmic: 716-901