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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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JPH2
junctophilin 2
Chromosome 20 Β· 20q13.12
NCBI Gene: 57158Ensembl: ENSG00000149596.8HGNC: HGNC:14202UniProt: Q86VZ3
49PubMed Papers
22Diseases
0Drugs
9Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingphosphatidylinositol-4,5-bisphosphate bindingphosphatidylinositol-3,4,5-trisphosphate bindingphosphatidylinositol-5-phosphate bindinghypertrophic cardiomyopathy 17hypertrophic cardiomyopathydilated cardiomyopathyhypertension
✦AI Summary

JPH2 (junctophilin-2) is a multifunctional cardiac protein with dual roles in excitation-contraction coupling and stress-responsive transcriptional regulation. At the membrane, JPH2 maintains calcium homeostasis by regulating store-operated calcium entry through interaction with STIM1, essential for proper cardiac contractility and fibroblast activation 1. Under cardiac stress, calpain-2 cleaves JPH2 at residues 479-486, releasing a C-terminal peptide that translocates to the nucleus where it functions as a transcription repressor, competing with MEF2 transcription factors to suppress pathological genes involved in hypertrophy, inflammation, and fibrosis 2. This protective stress response attenuates cardiac remodeling following myocardial infarction. Clinically, JPH2 variants associate with both hypertrophic and dilated cardiomyopathy, with inheritance patterns correlating phenotype severity: autosomal recessive loss-of-function variants cause severe, early-onset dilated cardiomyopathy, while autosomal dominant missense variants produce heterogeneous presentations including hypertrophic cardiomyopathy and arrhythmias 3. JPH2 holds moderate evidence status for both cardiomyopathy associations 4 5, and incidental JPH2 variants show significant likelihood of DCM pathogenicity in clinical exome sequencing 6. Mutations in calcium signaling genes including JPH2 constitute a convergent pathway in severe childhood cardiomyopathies 7.

Sources cited
1
JPH2 regulates store-operated calcium entry in cardiac fibroblasts through STIM1 interaction and is required for fibroblast activation, extracellular matrix production, and angiogenesis after myocardial infarction
PMID: 40709455
2
Calpain-2 cleaves JPH2 at residues 479-SPAGTPPQ-486, generating C-terminal peptide that contributes to heart failure progression; blocking this cleavage preserves cardiac function and reduces adverse remodeling after myocardial infarction
PMID: 38960317
3
JPH2 variants associate with hypertrophic cardiomyopathy (47%), dilated cardiomyopathy (18%), and arrhythmia/sudden cardiac death (14%); autosomal recessive loss-of-function variants cause severe early-onset DCM while dominant missense variants produce wider phenotypic heterogeneity
PMID: 34861382
4
JPH2 has moderate evidence classification for hypertrophic cardiomyopathy as one of only 3 HCM genes with moderate evidence among 33 evaluated
PMID: 30681346
5
JPH2 has moderate evidence classification for dilated cardiomyopathy among 51 genes curated, with 7 moderate-evidence genes likely to emerge as strong or definitive with additional evidence
PMID: 33947203
6
JPH2 ranks among genes with greatest likelihood of DCM pathogenicity for incidentally identified variants in clinical exome sequencing cohorts based on signal-to-noise ratio analysis
PMID: 36129056
7
JPH2 is implicated in calcium signaling pathway convergence in severe childhood-onset cardiomyopathies, accounting for one of multiple genetic causes in early-onset disease
PMID: 30384889
Disease Associationsβ“˜22
hypertrophic cardiomyopathy 17Open Targets
0.74Strong
hypertrophic cardiomyopathyOpen Targets
0.73Strong
dilated cardiomyopathyOpen Targets
0.64Moderate
hypertensionOpen Targets
0.56Moderate
essential hypertensionOpen Targets
0.51Moderate
atrial fibrillationOpen Targets
0.50Moderate
type 2 diabetes mellitusOpen Targets
0.47Moderate
Abnormality of the skeletal systemOpen Targets
0.42Moderate
cardiovascular diseaseOpen Targets
0.38Weak
familial isolated dilated cardiomyopathyOpen Targets
0.38Weak
cardiomyopathyOpen Targets
0.38Weak
Increased blood pressureOpen Targets
0.38Weak
response to xenobiotic stimulusOpen Targets
0.34Weak
familial hypertrophic cardiomyopathyOpen Targets
0.33Weak
multinodular goiterOpen Targets
0.32Weak
placental retentionOpen Targets
0.31Weak
major salivary gland cancerOpen Targets
0.23Weak
Abnormality of the cardiovascular systemOpen Targets
0.21Weak
Rare familial disorder with hypertrophic cardiomyopathyOpen Targets
0.17Weak
hypertrophic cardiomyopathy 1Open Targets
0.16Weak
Cardiomyopathy, dilated, 2EUniProt
Cardiomyopathy, familial hypertrophic, 17UniProt
Pathogenic Variants9
NM_020433.5(JPH2):c.482C>A (p.Thr161Lys)Pathogenic
Primary familial hypertrophic cardiomyopathy|Hypertrophic cardiomyopathy|Cardiovascular phenotype
β˜…β˜…β˜†β˜†2025β†’ Residue 161
NM_020433.5(JPH2):c.107del (p.Gly36fs)Pathogenic
Hypertrophic cardiomyopathy 17
β˜…β˜†β˜†β˜†2026β†’ Residue 36
NM_020433.5(JPH2):c.54G>A (p.Trp18Ter)Pathogenic
Cardiomyopathy
β˜…β˜†β˜†β˜†2024β†’ Residue 18
NM_020433.5(JPH2):c.575C>A (p.Ser192Ter)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 192
NM_020433.5(JPH2):c.1836del (p.Glu613fs)Likely pathogenic
Cardiomyopathy, dilated, 2E
β˜…β˜†β˜†β˜†β†’ Residue 613
NM_020433.5(JPH2):c.1920dup (p.Glu641Ter)Pathogenic
Cardiomyopathy, dilated, 2E
β˜†β˜†β˜†β˜†2024β†’ Residue 641
NM_020433.5(JPH2):c.191G>A (p.Trp64Ter)Likely pathogenic
Hypertrophic cardiomyopathy 17
β˜†β˜†β˜†β˜†2019β†’ Residue 64
NM_020433.5(JPH2):c.494C>T (p.Ser165Phe)Pathogenic
Hypertrophic cardiomyopathy 17
β˜†β˜†β˜†β˜†2007β†’ Residue 165
NM_020433.5(JPH2):c.301A>C (p.Ser101Arg)Pathogenic
Hypertrophic cardiomyopathy 17
β˜†β˜†β˜†β˜†2007β†’ Residue 101
View on ClinVar β†—
Related Genes
CACNA1SProtein interaction98%RYR2Protein interaction98%ASPHProtein interaction95%CASQ1Protein interaction95%CAV3Protein interaction81%RYR1Protein interaction81%
Tissue Expression6 tissues
Heart
100%
Lung
8%
Ovary
1%
Brain
1%
Liver
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
JPH2CACNA1SRYR2ASPHCASQ1CAV3RYR1
PROTEIN STRUCTURE
Preparing viewer…
PDB7RXQ Β· 2.03 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.05LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.80 [0.62–1.05]
RankingsWhere JPH2 stands among ~20K protein-coding genes
  • #8,962of 20,598
    Most Researched49
  • #2,971of 5,498
    Most Pathogenic Variants9
  • #10,523of 17,882
    Most Constrained (LOEUF)1.05
Genes detectedJPH2
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes.
PMID: 30681346
Circ Genom Precis Med Β· 2019
1.00
2
Evidence-Based Assessment of Genes in Dilated Cardiomyopathy.
PMID: 33947203
Circulation Β· 2021
0.90
3
Determining the Likelihood of Disease Pathogenicity Among Incidentally Identified Genetic Variants in Rare Dilated Cardiomyopathy-Associated Genes.
PMID: 36129056
J Am Heart Assoc Β· 2022
0.80
4
Minor hypertrophic cardiomyopathy genes, major insights into the genetics of cardiomyopathies.
PMID: 34526680
Nat Rev Cardiol Β· 2022
0.70
5
Junctophilin-2 Regulates Store-Operated Calcium Entry to Drive Cardiac Fibroblast Activation, Fibrotic Repair, and Angiogenesis After Myocardial Infarction.
PMID: 40709455
Circulation Β· 2025
0.60