InnateDB Protein
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IDBP-76304.7
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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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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000344590
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InnateDB Gene
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IDBG-76300 (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:20095964}.
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Subcellular Localization |
Cell membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}. Endoplasmic reticulum membrane {ECO:0000250}; Single-pass type IV membrane protein {ECO:0000250}. Sarcoplasmic reticulum membrane {ECO:0000250}; Single-pass type IV membrane protein {ECO:0000250}. 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 (By similarity). {ECO:0000250}.
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Disease Associations |
Cardiomyopathy, familial hypertrophic 17 (CMH17) [MIM:613873]: A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. {ECO:0000269PubMed:17509612}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
Specifically expressed in skeletal muscle and heart. {ECO:0000269PubMed:10891348}.
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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 3 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated |
Total |
3
[view]
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Protein-Protein |
2
[view]
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Protein-DNA |
1
[view]
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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 |
1 [view]
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Molecular Function |
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Biological Process |
GO:0055074
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calcium ion homeostasis
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GO:0060314
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regulation of ryanodine-sensitive calcium-release channel activity
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GO:0060316
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positive regulation of ryanodine-sensitive calcium-release channel activity
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GO:0060402
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calcium ion transport into cytosol
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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 |
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InterPro |
IPR003409
MORN motif
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PFAM |
PF02493
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PRINTS |
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PIRSF |
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SMART |
SM00698
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TIGRFAMs |
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Modification |
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SwissProt |
Q9BR39
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PhosphoSite |
PhosphoSite-Q9BR39
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
57158
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UniGene |
Hs.441737
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RefSeq |
NP_787109
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HUGO |
HGNC:14202
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OMIM |
605267
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CCDS |
CCDS13326
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HPRD |
12006
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IMGT |
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EMBL |
AL034419
AL035447
AL132999
CH471077
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GenPept |
CAB61347
CAC18785
CAI19380
CAI42199
EAW75940
EAW75943
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