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FLASH GENE
Symbol JPH3 contributors: npt/mct - updated : 11-03-2009
HGNC name junctophilin 3
HGNC id 14203
Corresponding disease
HDL2 Huntington disease -like 2
Location 16q24.3      Physical location : 87.636.498 - 87.731.759
Synonym name trinucleotide repeat containing 22
Synonym symbol(s) JP3, TNRC22, CAGL237, HDL2, FLJ44707
DNA
TYPE functioning gene
STRUCTURE 95.26 kb     5 Exon(s)
10 Kb 5' upstream gene genomic sequence study
motif repetitive sequence   triplet
text structure triplet repeat between exons 1 and 2
MAPPING cloned Y linked N status provisional
Physical map
FOXF1 16q24 forkhead box F1 FLJ12998 16q24.1 hypothetical protein FLJ12998 FLJ30679 16q24.1 hypothetical protein FLJ30679 FOXC2 16q24.3 forkhead box C2 (MFH-1, mesenchyme forkhead 1) FOXL1 16q24.3 forkhead box L1 LOC388305 16 LOC388305 MGC15419 16q24.2 MGC15419 protein MAP1LC3B 16q24.1 microtubule-associated protein 1 light chain 3 beta BDG29 16q24.2 BDG-29 proten JPH3 16q24.3 junctophilin 3 DKFZp434G0522 16q24.3 hypothetical protein DKFZp434G0522 SLC7A5 16q24.3 solute carrier family 7 (cationic amino acid transporter, y+ system), member 5 CA5A 16q24.3 carbonic anhydrase VA, mitochondrial BANP 16q24 carbonic anhydrase VA, mitochondrial LOC388306 16 LOC388306 LOC390747 16 similar to proline rich protein ZNF469 16q24 zinc finger protein 469 ZFPM1 16q24.3 zinc finger protein, multitype 1 LOC124245 16q24.3 hypothetical protein BC001584 IL17C 16q24 interleukin 17C CYBA 16q24.2 cytochrome b-245, alpha polypeptide MVD 16q24.2 mevalonate (diphospho) decarboxylase SNAI3 16q24.3 snail homolog 3 (Drosophila)
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