Gene: JPH2
Alternate names for this Gene: CMH17|JP-2|JP2
Gene Summary: 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.
Gene is located in Chromosome: 20
Location in Chromosome : 20q13.12
Description of this Gene: junctophilin 2
Type of Gene: protein-coding