Junctophilin-2 / TRP channels
  Name: Junctophilin-2  
  (Junctophilin-2)
  Official Symbol: JPH2
  
    provided by HGNC
  
  Function:
  
Junctophilins contribute to the formation of junctional membrane complexes (JMCs) which link the plasma membrane with the endoplasmic or sarcoplasmic reticulum in excitable cells. Provides a structural foundation for functional cross-talk between the cell surface and intracellular calcium release channels. JPH2 is necessary for proper intracellular Ca(2+) signaling in cardiac myocytes via its involvement in ryanodine receptor-mediated calcium ion release. Contributes to the construction of skeletal muscle triad junctions.
Source: Reorganizing the protein space at the Universal Protein Resource (UniProt)
Nucleic Acids Res. 40: D71-D75 (2012).
    | Species | 
        External DB
         
        
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|---|---|---|---|---|---|---|---|---|---|---|
| Entrez Gene | UniprotKB | DIP | IntAct | MINT | BioGRID | STRING | IUPHAR-DB | KEGG | OMIM | |
          Human
             
         | 
          57158 | 
          Q9BR39 | 
          MINT-4538172 | 
          121414 | 
          Q9BR39 | 
          hsa:57158 | 
          605267 | 
      |||
          Mouse
             
         | 
          59091 | 
          Q9ET78 | 
          MINT-4099221 | 
          208526 | 
          Q9ET78 | 
          mmu:59091 | 
          ||||
          Rat
             
         | 
          296345 | 
          Q2PS20 | 
          DIP-37412N | 
          Q2PS20 | 
          UNK-5398012 | 
          255327 | 
          Q2PS20 | 
          rno:296345 | 
          ||
      PPI pairs:
    
    
    Biological Process:
    
      
    - GO:0060402 
 : calcium ion transport into cytosol  - GO:0060316 
 : positive regulation of ryanodine-sensitive calcium-release channel activity  - GO:0055024 
 : regulation of cardiac muscle tissue development  
Source: The Gene Ontology Consortium. Gene ontology: tool for the unification of biology. Nat. Genet.. May 2000;25(1):25-9.
World Wide Web URL: http://www.geneontology.org/
World Wide Web URL: http://www.geneontology.org/
    Disease:
    
      
    - OMIM:605267 
 :
 Cardiomyopathy, familial hypertrophic 17
(OMIM:613873 
) 
 
Source: Online Mendelian Inheritance in Man, OMIM®. McKusick-Nathans Institute of Genetic Medicine, 
Johns Hopkins University (Baltimore, MD), May, 2012. 
World Wide Web URL: http://omim.org/
World Wide Web URL: http://omim.org/
        Screening
        Validation: In vitro validation
        Validation: In vivo validation
        Characterization
        Functional consequence
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        top
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Screening
         
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| Experimental screening | Non-experimental screening | Reference | ||||||||
| TRP channel construct | Interactor source | |||||||||
| TRP channel | Interactor | Method | Species | Region | Species | Organ/tissue | Sample type | |||
| TRPC3 | 
             
           | 
        Junctophilin-2 | Inference | Prediction | 18215135 | |||||
  (
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  click the arrow icon to show interactions only between the corresponding TRP channel and the interactor)
  
: 
  click the arrow icon to show interactions only between the corresponding TRP channel and the interactor)
        Screening
        Validation: In vitro validation
        Validation: In vivo validation
        Characterization
        Functional consequence
     | 
    
        top
     | 
  
Validation: In vitro validation
      
         
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|---|---|---|---|---|---|---|---|---|---|---|
| Assay with recombinant proteins | Reference | |||||||||
| TRP channel construct | Interactor construct | |||||||||
| TRP channel | Interactor | Method | Species | Region | Expression system | Species | Region | Expression system | ||
| TRPC3 | 
             
           | 
        Junctophilin-2 | Fusion protein-pull down assay | Not used | Rabbit back and leg fast-twich skeletal muscle lysates | Mouse | Full-length | E. coli | 19277847 | |
  (
: 
  click the arrow icon to show interactions only between the corresponding TRP channel and the interactor)
  
: 
  click the arrow icon to show interactions only between the corresponding TRP channel and the interactor)
        Screening
        Validation: In vitro validation
        Validation: In vivo validation
        Characterization
        Functional consequence
     | 
    
        top
     | 
  
Validation: In vivo validation
         
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|---|---|---|---|---|---|---|---|---|---|---|
| Assay with endogenous proteins | Assay with overexpressed proteins | Reference | ||||||||
| Cell or tissue | Cell or tissue | TRP channel construct | Interactor construct | |||||||
| TRP channel | Interactor | Method | Species | Region | Species | Region | ||||
| TRPC3 | 
             
           | 
        Junctophilin-2 | Co-immunoprecipitation | Mouse skeletal muscle myoblast lysates | Not used | Mouse | Full-length | 20095964 | ||
| TRPC3 | 
             
           | 
        Junctophilin-2 | Co-immunoprecipitation | Mouse skeletal myotube lysates | 18215135 | |||||
  (
: 
  click the arrow icon to show interactions only between the corresponding TRP channel and the interactor)
  
: 
  click the arrow icon to show interactions only between the corresponding TRP channel and the interactor)
        Screening
        Validation: In vitro validation
        Validation: In vivo validation
        Characterization
        Functional consequence
     | 
    
        top
     | 
  
Characterization
         
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|---|---|---|---|---|---|---|---|---|---|---|
| Binding region mapping | Stoichiometry | Affinity (Kd) | Reference | |||||||
| TRP channel | Interactor | |||||||||
| TRP channel | Interactor | Method | Species | Region | Species | Region | ||||
| TRPC3 | 
             
           | 
        Junctophilin-2 | Fusion protein-pull down assay | Mouse | Not determined | Mouse | 143-234 | 19277847 | ||
  (
: 
  click the arrow icon to show interactions only between the corresponding TRP channel and the interactor)
  
: 
  click the arrow icon to show interactions only between the corresponding TRP channel and the interactor)







 Screening