Check out the October 2016, Volume #3, Issue #10 of our newsletter.
JPH2 (NM_020433.4) encodes junctophilin-2. Junctophilins are a family of proteins that bridge the gap between the plasma membrane and the sarcoplasmic or endoplasmic reticulum. JPH2 is the junctophilin that is primarily expressed in cardiac tissue, and it is thought to create the required space between the voltage gated calcium channel at the plasma membrane and the ryanodine receptor at the sarcoplasmic reticulum. This space is necessary for calcium-induced calcium release during muscle excitation and contraction (Garbino and Wehrens, 2010. Acta Pharmacologica Sinica. 31:1019-1021). The JPH2 gene is located at 20q13.12 and contains 5 coding exons. Mutations in JPH2 have been reported in patients with hypertrophic cardiomyopathy (HCM) (Landstrom, 2007. J Molec Cell Cardiol. 42:1026-1035).