External Ids for JPH2 Gene
Previous GeneCards Identifiers for JPH2 Gene
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]
GeneCards Summary for JPH2 Gene
JPH2 (Junctophilin 2) is a Protein Coding gene. Diseases associated with JPH2 include Cardiomyopathy, Hypertrophic, 17 and Jph2-Related Familial Hypertrophic Cardiomyopathy. GO annotations related to this gene include phosphatidylinositol-4,5-bisphosphate binding and phosphatidylinositol-3-phosphate binding. An important paralog of this gene is JPH3.
UniProtKB/Swiss-Prot for JPH2 Gene
Junctophilins contribute to the formation of junctional membrane complexes (JMCs) which link the plasma membrane with the endoplasmic or sarcoplasmic reticulum in excitable cells. Provides a structural foundation for functional cross-talk between the cell surface and intracellular calcium release channels. JPH2 is necessary for proper intracellular Ca(2+) signaling in cardiac myocytes via its involvement in ryanodine receptor-mediated calcium ion release. Contributes to the construction of skeletal muscle triad junctions.