Cancer Protein Description
This report provides a detailed description of a selected cancer protein with information collected from various sources, including UniProt, the Wellcome Trust Sanger Institute’s Catalogue of Somatic Mutations in Cancer (COSMIC), and the Atlas of Genetics and Cytogenetics in Oncology and Haematology.
| Protein Name: | DSG2 |
| Gene Name: | DSG2 |
| Protein Full Name: | Desmoglein-2 |
| Alias: | CDHF5; Desmoglein 2; Desmoglein-2; HDGC |
| Mass (Da): | 122294 |
| Number AA: | 1118 |
| UniProt ID: | Q14126 |
| Locus ID: | 1829 |
| COSMIC ID: | DSG2 |
| Gene location on chromosome: | 18q12.1 |
| Number of cancer specimens: | 19672 |
| Percent of cancer specimens with mutations: | 0.93 |
| Commentary on involvement of protein in cancer: | Defects in DSG2 are the cause of familial arrhythmogenic right ventricular dysplasia type 10 (ARVD10) [MIM:610193]; also known as arrhythmogenic right ventricular cardiomyopathy 10 (ARVC10). ARVD is an autosomal dominant disease characterized by partial degeneration of the myocardium of the right ventricle, electrical instability, and sudden death. It is clinically defined by electrocardiographic and angiographic criteria; pathologic findings, replacement of ventricular myocardium with fatty and fibrous elements, preferentially involve the right ventricular free wall. |