DISEASES

Disease-gene associations mined from literature

Literature on JPH2

JPH2 [ENSP00000362071]

Junctophilin-2 N-terminal fragment; [Junctophilin-2]: Membrane-binding protein that provides a structural bridge between the plasma membrane and the sarcoplasmic reticulum and is required for normal excitation-contraction coupling in cardiomyocytes . Provides a structural foundation for functional cross-talk between the cell surface and intracellular Ca(2+) release channels by maintaining the 12-15 nm gap between the sarcolemma and the sarcoplasmic reticulum membranes in the cardiac dyads (By similarity). Necessary for proper intracellular Ca(2+) signaling in cardiac myocytes via its involvement in ryanodine receptor-mediated calcium ion release (By similarity). Contributes to the construction of skeletal muscle triad junctions (By similarity).

Synonyms:  JPH2,  JPH2p,  hJPH2,  Q9BR39,  Q9BR39p ...

Linkouts:  STRING  Pharos  UniProt  OMIM