Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol JPH2 contributors: mct - updated : 24-08-2009
HGNC name junctophilin 2
HGNC id 14202
Location 20q13.12      Physical location : 42.740.336 - 42.816.218
Synonym symbol(s) JP2, JP-2, FLJ40969
DNA
TYPE functioning gene
STRUCTURE 75.88 kb     6 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
Physical map
PPIAL 20q12 peptidylprolyl isomerase A (cyclophilin A)-like SFRS6 20q13.1 splicing factor, arginine/serine-rich 6 L3MBTL 20q13.12 l(3)mbt-like (Drosophila) SGK2 20q13.2 serum/glucocorticoid regulated kinase 2 C20orf9 20q12-q13.1 chromosome 20 open reading frame 9 RPL27AP 20q13.11 ribosomal protein L27a pseudogene MYBL2 20q13.1 v-myb myeloblastosis viral oncogene homolog (avian)-like 2 C20orf65 20q13.11 chromosome 20 open reading frame 65 C20orf100 20q13.11 chromosome 20 open reading frame 100 JPH2 20q12-q13.1 junctophilin 2 C20orf111 20q13.11 chromosome 20 open reading frame 111 GDAP1L1 20q12 ganglioside-induced differentiation-associated protein 1-like 1 C20orf142 20q13.12 chromosome 20 open reading frame 142 R3HDML 20 R3H domain (binds single-stranded nucleic acids) containing-like FLJ39654 20q13.12 hypothetical protein FLJ39654 LOC149704 20q13.12 hypothetical LOC149704 HNF4A 20q12-q13.1 hepatocyte nuclear factor 4, alpha RPL37AP1 20q12 ribosomal protein L37a pseudogene 1 C20orf121 20q13.11 chromosome 20 open reading frame 121 TDE1 20q13.1-q13.3 tumor differentially expressed 1 PKIG 20q13.2-q13.13 protein kinase (cAMP-dependent, catalytic) inhibitor gamma ADA 20q12 adenosine deaminase MGC5566 20q13.12 hypothetical protein MGC5566 WISP2 20q12-q13.1 WNT1 inducible signaling pathway protein 2 KCNK15 20q12-q13 potassium channel, subfamily K, member 15 RIMS4 20 regulating synaptic membrane exocytosis 4 LOC391252 20 similar to piggyBac transposable element derived 4 YWHAB 20q13.1 tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta polypeptide LOC200226 20q13.12 similar to Polyadenylate-binding protein 2 (Poly(A)-binding protein 2) (PABP 2) TOMM34 20q12-q13.11 translocase of outer mitochondrial membrane 34 STK4 20q11.2-q13.2 serine/threonine kinase 4
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
6 - 4802 74.2 696 - Nishi (2000)
2 - 2408 - 129 - Nishi (2000)
EXPRESSION
Type restricted
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart   specific
Digestiveintestinelarge intestinecolon  
Reproductivefemale systembreastmammary gland  
 male systemtestis   
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Muscularstriatumcardiac  
Muscularstriatumskeletal  
cell lineage
cell lines
fluid/secretion
at STAGE
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)