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FLASH GENE
Symbol JPH2 contributors: mct - updated : 24-08-2009
HGNC name junctophilin 2
HGNC id 14202
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • C terminal hydrophobic segment spanning the ER/SR membrane
  • remaining cytoplasmic domain that shows affinity to the plasma membrane
  • eight MORN repeats
    • HOMOLOGY
    interspecies ortholog to murine Jph2
    Homologene
    FAMILY junctophilin family
    CATEGORY structural protein
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    text in the endo/sarcoplasmic reticulum
    basic FUNCTION
  • mediating cross-talk between cell surface and endoplasmic reticulum
  • play essential roles in cellular Ca2+ signaling in excitable cells
  • form junctional membrane complexes between the plasma membrane and the endo/sarcoplasmic reticulum in excitable cells (Yamazaki 2009)
    • CELLULAR PROCESS cell organization/biogenesis
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component component of the junctional membrane complexes
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility to hypertrophic cardiomyopathy
    Variant & Polymorphism other mutation increasing the risk of hypertrophic cardiomyopathy (S101R, Y141H and S165F, which localize to key functional domains) (Landstrom 2007)
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
    JPH2 knockout mice showed disrupted calcium transients, altered junctional membrane complex formation, cardiomyopathy, and embryonic lethality (Landstrom 2007)