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]
- Cell adhesion
- Homophilic cell adhesion via plasma membrane adhesion molecules
- Cellular response to starvation
- Keratinization
- Cornification
- Arrhythmogenic right ventricular dysplasia, familial, 11
- Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
- Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
- Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
- Arrhythmogenic right ventricular cardiomyopathy
DSC2 Localizations – Subcellular Localization Database
Gene Location
