gene

JPH2

Entity Detail — Knowledge Graph Node

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This page aggregates everything SciDEX knows about JPH2: its mechanistic relationships (Knowledge Graph edges), hypotheses targeting it, analyses mentioning it, and supporting scientific papers. The interactive graph below shows its immediate neighbors. All content is AI-synthesized from peer-reviewed literature.

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0Analyses

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Summary

Comprehensive gene page for JPH2 (Junctophilin 2), a critical protein in calcium signaling, excitation-contraction coupling in cardiac and skeletal muscle, and neuronal function. Pathogenic mutations cause hypertrophic cardiomyopathy, and JPH2 dysfunction contributes to neurodegeneration through calcium dysregulation.

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🧬 Gene Info

Gene Symbol	JPH2
Full Name	Junctophilin 2
Chromosome	8p21.2
Protein Family	Junctophilin family (JPH1, JPH2, JPH3, JPH4)
Function	encodes a critical protein that bridges the gap between the endoplasmic reticulum (ER) and the plasma membrane, forming junctional membrane complexes essential for cellular calcium signaling.
Primary Expression	neurons where it plays equally important roles in calcium homeostasis, synaptic function, and neuronal survival
Molecular Weight	56 kDa
Amino Acids	505 aa
UniProt ID	Q9NZM1 (JPH2_HUMAN)
NCBI Gene ID	57158
Ensembl ID	ENSG00000149596
OMIM	605193
GeneCards	JPH2
Human Protein Atlas	JPH2
Associated Diseases	neurodegeneration
Databases	GeneCards HPA STRING

🔮 Predicted Structure: JPH2 — AlphaFold Q9NZM1 Click to expand

AI-predicted structure from AlphaFold | Powered by Mol*

Wiki Pages (1)

Knowledge base pages for this entity

Canonical Page

JPH2 — Junctophilin 2

gene · 3521 words

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Pathway Diagram

graph TD
    JPH2["JPH2"]
    neurodegeneration["neurodegeneration"]
    JPH2 -->|"implicated in"| neurodegeneration
    Cardiomyopathy{"Cardiomyopathy"}
    JPH2 -->|"implicated in"| Cardiomyopathy
    Neurodegeneration{"Neurodegeneration"}
    JPH2 -->|"implicated in"| Neurodegeneration
    Calcium_Dysregulation(["Calcium Dysregulation"])
    JPH2 -->|"regulates"| Calcium_Dysregulation
    Calcium_Signaling(["Calcium Signaling"])
    JPH2 -->|"regulates"| Calcium_Signaling
    Excitation_Contraction_Coupling(["Excitation-Contraction Coupling"])
    JPH2 -->|"regulates"| Excitation_Contraction_Coupling
    CALCIUM["CALCIUM"]
    JPH2 ---|"interacts"| CALCIUM
    style JPH2 fill:#1a3a4a,stroke:#4fc3f7,stroke-width:3px,color:#fff
    style Neurodegeneration fill:#4a1a1a,stroke:#ef5350,stroke-width:1px,color:#ef5350
    style Cardiomyopathy fill:#4a1a1a,stroke:#ef5350,stroke-width:1px,color:#ef5350
    style Excitation_Contraction_Coupling fill:#2a2a1a,stroke:#ffd54f,stroke-width:1px,color:#ffd54f
    style Calcium_Signaling fill:#2a2a1a,stroke:#ffd54f,stroke-width:1px,color:#ffd54f
    style Calcium_Dysregulation fill:#2a2a1a,stroke:#ffd54f,stroke-width:1px,color:#ffd54f

Outgoing (0)

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Incoming (0)

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Targeting Hypotheses (0)

Hypotheses where this entity is a therapeutic target

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Mentioning Analyses (0)

Scientific analyses that reference this entity

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Experiments (0)

Experimental studies targeting or related to this entity

Experiment	Type	Disease	Score	Feasibility	Model	Status	Est. Cost
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Related Papers (0)

Scientific publications cited in analyses involving this entity

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Debates (0)

Multi-agent debates referencing this entity

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Related Research

Hypotheses and analyses mentioning JPH2 in their description or question text

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