Desmoglein 2/DSG2

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.

Component of intercellular desmosome junctions. Involved in the interaction of plaque proteins and intermediate filaments mediating cell-cell adhesion.

Arrhythmogenic right ventricular dysplasia, familial, 10

ARVD10

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.

Cardiomyopathy, dilated, 1BB

CMD1BB

A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.

None

Disease susceptibility is associated with variants affecting the gene represented in this entry.

Palmitoylated by ZDHHC5 at the plasma membrane.

All of the tissues tested and carcinomas.

• Cell membrane
• Single-pass type I membrane protein
• Cell junction
• Desmosome

CDHF5, DSG2, Desmoglein-2, Cadherin family member 5, HDGC

• entrezGene:1829
• omim:125671
• swissprot:Q14126

Proteins

122294Da