InnateDB Protein
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IDBP-211865.6
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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Jph2
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Protein Name
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junctophilin 2
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Synonyms
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1110002E14Rik; JP-2; Jp2;
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Species
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Mus musculus
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Ensembl Protein
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ENSMUSP00000017961
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InnateDB Gene
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IDBG-211863 (Jph2)
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Protein Structure
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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. {ECO:0000269PubMed:10949023, ECO:0000269PubMed:19095005, ECO:0000269PubMed:21339484}.
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Subcellular Localization |
Cell membrane {ECO:0000269PubMed:10949023}; Peripheral membrane protein {ECO:0000269PubMed:10949023}. Endoplasmic reticulum membrane {ECO:0000269PubMed:10949023}; Single-pass type IV membrane protein {ECO:0000269PubMed:10949023}. Sarcoplasmic reticulum membrane {ECO:0000269PubMed:10949023}; Single-pass type IV membrane protein {ECO:0000269PubMed:10949023}. Note=Localized predominantly on the plasma membrane. The transmembrane domain is anchored in endoplasmic/sarcoplasmic reticulum membrane, while the N-terminal part associates with the plasma membrane. In heart cells, it predominantly associates along Z lines within myocytes. In skeletal muscle, it is specifically localized at the junction of A and I bands.
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Disease Associations |
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Tissue Specificity |
Abundantly expressed in skeletal muscle and heart. Weak expression in stomach and lung. {ECO:0000269PubMed:10949023}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 4 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.
Experimentally validated |
Total |
4
[view]
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Protein-Protein |
4
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Predicted by orthology |
Total |
2 [view]
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Molecular Function |
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Biological Process |
GO:0007204
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positive regulation of cytosolic calcium ion concentration
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GO:0007275
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multicellular organismal development
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GO:0055024
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regulation of cardiac muscle tissue development
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GO:0055074
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calcium ion homeostasis
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GO:0060316
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positive regulation of ryanodine-sensitive calcium-release channel activity
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GO:0070588
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calcium ion transmembrane transport
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Cellular Component |
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PDB ID |
MGI:1891496
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InterPro |
IPR003409
MORN motif
IPR017191
Junctophilin
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PFAM |
PF02493
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PRINTS |
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PIRSF |
PIRSF037387
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SMART |
SM00698
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TIGRFAMs |
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Modification |
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SwissProt |
Q9ET78
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PhosphoSite |
PhosphoSite-Q9ET78
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
59091
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UniGene |
Mm.34459
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RefSeq |
NP_067541
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MGI ID |
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MGI Symbol |
Jph2
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OMIM |
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CCDS |
CCDS17008
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HPRD |
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IMGT |
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EMBL |
AB024447
AB024448
AK157145
AL589876
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GenPept |
BAB12044
BAB12045
BAE33978
CAM13817
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