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FLASH GENE
Symbol JPH3 contributors: npt/mct - updated : 11-03-2009
HGNC name junctophilin 3
HGNC id 14203
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
5 - 3997 81.3 748 - Yamazaki (2008)
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Nervousbraindiencephalonhypothalamus  
Visualeye    
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Connective    
Epithelialbarrier/liningretinal pigment epithelium (RPE)  
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period fetal
Text eye
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • C terminal hydrophobic segment spanning the ER/SR membrane and a remaining cytoplasmic domain that shows affinity to the plasma membrane
  • HOMOLOGY
    interspecies homolog to murine Jph3
    Homologene
    FAMILY
  • junctophilin gene family
  • CATEGORY structural protein
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    basic FUNCTION
  • mediating cross-talk between cell surface and endoplasmic reticulum
  • involved in the formation of junctional membrane structures
  • 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) HDL2
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS