InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: JPH2

Summary

InnateDB Protein

IDBP-76302.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

JPH2

Protein Name

junctophilin 2

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000362071

InnateDB Gene

IDBG-76300 (JPH2)

Protein Structure

UniProt Annotation

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}.

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}.

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.

Tissue Specificity

Specifically expressed in skeletal muscle and heart. {ECO:0000269PubMed:10891348}.

Comments

Interactions

Number of Interactions

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]
Protein-Protein	2 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0001786	phosphatidylserine binding
GO:0005515	protein binding
GO:0005546	phosphatidylinositol-4,5-bisphosphate binding
GO:0005547	phosphatidylinositol-3,4,5-trisphosphate binding
GO:0010314	phosphatidylinositol-5-phosphate binding
GO:0015278	calcium-release channel activity
GO:0032266	phosphatidylinositol-3-phosphate binding
GO:0070273	phosphatidylinositol-4-phosphate binding
GO:0070300	phosphatidic acid binding
GO:0080025	phosphatidylinositol-3,5-bisphosphate binding

Biological Process

GO:0007204	positive regulation of cytosolic calcium ion concentration
GO:0055024	regulation of cardiac muscle tissue development
GO:0055074	calcium ion homeostasis
GO:0060314	regulation of ryanodine-sensitive calcium-release channel activity
GO:0060316	positive regulation of ryanodine-sensitive calcium-release channel activity
GO:0060402	calcium ion transport into cytosol
GO:0070588	calcium ion transmembrane transport

Cellular Component

GO:0005886	plasma membrane
GO:0014701	junctional sarcoplasmic reticulum membrane
GO:0016020	membrane
GO:0016021	integral component of membrane
GO:0016529	sarcoplasmic reticulum
GO:0030018	Z disc
GO:0030314	junctional membrane complex