DSC2
Domain
Calcium may be bound by the cadherin-like repeats.
Three calcium ions are usually bound at the interface of each cadherin domain and rigidify the connections, imparting a strong curvature to the full-length ectodomain.
Function
A component of desmosome cell-cell junctions which are required for positive regulation of cellular adhesion (PubMed:33596089). Promotes timely incorporation of DSG2 into desmosome intercellular junctions and promotes interaction of desmosome cell junctions with intermediate filament cytokeratin, via modulation of DSP phosphorylation (PubMed:33596089). Plays an important role in desmosome-mediated maintenance of intestinal epithelial cell intercellular adhesion strength and barrier function (PubMed:33596089). Positively regulates wound healing of intestinal mucosa via promotion of epithelial cell migration, and also plays a role in mechanotransduction of force between intestinal epithelial cells and extracellular matrix (PubMed:31967937). May contribute to epidermal cell positioning (stratification) by mediating differential adhesiveness between cells that express different isoforms. May promote p38MAPK signaling activation that facilitates keratinocyte migration (By similarity).
Involvement in disease
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.
None
The disease is caused by variants affecting the gene represented in this entry.
Tissue Specificity
Expressed at intercalated disks in the heart, where it is colocalized with CDH2 (at protein level) (PubMed:23863954, PubMed:33784018). Expressed in intestinal mucosal cells (at protein level) (PubMed:31967937).
Cellular localization
- Cell membrane
- Single-pass type I membrane protein
- Cell junction
- Desmosome
Alternative names
CDHF2, DSC3, DSC2, Desmocollin-2, Cadherin family member 2, Desmocollin-3, Desmosomal glycoprotein II, Desmosomal glycoprotein III