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
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. 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 in the heart (at protein level).
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