JPH2 report

I. Expression across cell types

II. Expression across tissues

III. Associated gene sets

GO_0055074Biological processcalcium ion homeostasis
GO_0055024Biological processregulation of cardiac muscle tissue development
GO_0000122Biological processnegative regulation of transcription by RNA polymerase II
GO_0060316Biological processpositive regulation of ryanodine-sensitive calcium-release channel activity
GO_0060402Biological processcalcium ion transport into cytosol
GO_0060314Biological processregulation of ryanodine-sensitive calcium-release channel activity
GO_0005886Cellular componentplasma membrane
GO_0030018Cellular componentZ disc
GO_0005789Cellular componentendoplasmic reticulum membrane
GO_0014701Cellular componentjunctional sarcoplasmic reticulum membrane
GO_0030314Cellular componentjunctional membrane complex
GO_0016529Cellular componentsarcoplasmic reticulum
GO_0005634Cellular componentnucleus
GO_0003677Molecular functionDNA binding
GO_0005547Molecular functionphosphatidylinositol-3,4,5-trisphosphate binding
GO_0001227Molecular functionDNA-binding transcription repressor activity, RNA polymerase II-specific
GO_0070273Molecular functionphosphatidylinositol-4-phosphate binding
GO_0005546Molecular functionphosphatidylinositol-4,5-bisphosphate binding
GO_0001786Molecular functionphosphatidylserine binding
GO_0032266Molecular functionphosphatidylinositol-3-phosphate binding
GO_0080025Molecular functionphosphatidylinositol-3,5-bisphosphate binding
GO_0070300Molecular functionphosphatidic acid binding
GO_0005515Molecular functionprotein binding
GO_0010314Molecular functionphosphatidylinositol-5-phosphate binding

IV. Literature review

[source]
Gene nameJPH2
Protein nameJPH2 protein
Junctophilin-2 (JP-2) (Junctophilin type 2) [Cleaved into: Junctophilin-2 N-terminal fragment (JP2NT)]
SynonymsJP2
DescriptionFUNCTION: [Junctophilin-2]: Membrane-binding protein that provides a structural bridge between the plasma membrane and the sarcoplasmic reticulum and is required for normal excitation-contraction coupling in cardiomyocytes . Provides a structural foundation for functional cross-talk between the cell surface and intracellular Ca(2+) release channels by maintaining the 12-15 nm gap between the sarcolemma and the sarcoplasmic reticulum membranes in the cardiac dyads (By similarity). Necessary for proper intracellular Ca(2+) signaling in cardiac myocytes via its involvement in ryanodine receptor-mediated calcium ion release (By similarity). Contributes to the construction of skeletal muscle triad junctions (By similarity). .; FUNCTION: [Junctophilin-2 N-terminal fragment]: Transcription repressor required to safeguard against the deleterious effects of cardiac stress. Generated following cleavage of the Junctophilin-2 chain by calpain in response to cardiac stress in cardiomyocytes. Following cleavage and release from the membrane, translocates to the nucleus, binds DNA and represses expression of genes implicated in cell growth and differentiation, hypertrophy, inflammation and fibrosis. Modifies the transcription profile and thereby attenuates pathological remodeling in response to cardiac stress. Probably acts by competing with MEF2 transcription factors and TATA-binding proteins. .

AccessionsENST00000342272.3 [Q9BR39-2]
Q9BR39
ENST00000372980.4 [Q9BR39-1]
Q86VZ3