Disease-gene associations mined from literature

Literature associating JPH2 and hypertrophic cardiomyopathy

JPH2 [ENSP00000362071]

Junctophilin type 2; 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.

Synonyms:  JPH2,  JPH2p,  hJPH2,  B4E3T9,  Q86VZ3 ...

Linkouts:  STRING  Pharos  UniProt  OMIM