JPH2 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human JPH2 wild-type allele is located in the vicinity of 20q13.12 and is approximately 81 kb in length. This allele, which encodes junctophilin-2 protein, plays a role in the coupling of excitation and contraction in cardiomyocytes and the response to cardiac stress. Mutation in the gene is associated in both dilated cardiomyopathy 2E and hypertrophic cardiomyopathy 17.

**Synonyms:** - CMD2E - CMH17 - JP-2 - JP2 - Junctophilin 2 wt Allele