The CDH2 gene located on chromosome 18 encodes the cadherin 2 protein.
A 2017 report concludes that certain CDH2 mutations cause arrhythmogenic right ventricle cardiomyopathy (ARVC), a genetic disorder that predisposes patients to cardiac arrest and is a major cause of unexpected death in seemingly healthy young people.10.1161/CIRCGENETICS.116.001605
Currently lacking dbSNP rs-identifiers, the two mutations reported are:
- c.686A>C, p.Gln229Pro
- c.1219G>A, p.Asp407Asn
- (note: the reference sequence used for this naming/numbering is unclear)