Junctional complexes between the plasma membrane and endoplasmic/sarcoplasmic reticulum are a common feature of all excitable cell types and mediate cross talk between cell surface and intracellular ion channels. The protein encoded by this gene is a component of junctional complexes and is composed of a C-terminal hydrophobic segment spanning the endoplasmic/sarcoplasmic reticulum membrane and a remaining cytoplasmic domain that shows specific affinity for the plasma membrane. This gene is a member of the junctophilin gene family. Alternative splicing has been observed at this locus and two variants encoding distinct isoforms are described. [provided by RefSeq, Jul 2008]
- Positive regulation of cytosolic calcium ion concentration
- Multicellular organism development
- Regulation of cardiac muscle tissue development
- Calcium ion homeostasis
- Regulation of ryanodine-sensitive calcium-release channel activity
- Cardiomyopathy, familial hypertrophic, 17
- Hypertrophic cardiomyopathy
- Periodontosis
- Dilated cardiomyopathy
- Left ventricular noncompaction
JPH2 Localizations – Subcellular Localization Database