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 | |||||||||
---|---|---|---|---|---|---|---|---|---|---|
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 | top |
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 |
(:
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)
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)
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)