Preferred Label : JPH2 wt Allele;
NCIt synonyms : JP2; CMD2E; Junctophilin 2 wt Allele; CMH17; JP-2;
NCIt 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.;
GenBank Accession Number : AL034419;
Origin ID : C201857;
OMIM relation
- gene_found_in_organism
- gene_plays_role_in_process
