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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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JPH4
junctophilin 4
Chromosome 14 · 14q11.2
NCBI Gene: 84502Ensembl: ENSG00000092051.19HGNC: HGNC:20156UniProt: Q96JJ6
14PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingplasma membraneregulation of synaptic plasticityendoplasmic reticulum membraneneurodegenerative diseaseGenu varumGenu valgumChronic mucocutaneous candidosis
✦AI Summary

JPH4 (junctophilin 4) is a brain-specific membrane protein that forms junctional complexes between the endoplasmic reticulum (ER) and plasma membrane in neurons. JPH4 creates ER-plasma membrane junctions through its C-terminal transmembrane domain anchored in the ER and N-terminal domains that bind to the plasma membrane 1. In hippocampal CA1 pyramidal cells, JPH4 works together with JPH3 to tether a tripartite complex containing Cav1.3/Cav1.2 calcium channels, RyR2 ryanodine receptors, and KCa3.1 potassium channels, which is essential for regulating neuronal excitability through the slow afterhyperpolarization (sAHP) 2. JPH4 can recruit high-voltage-activated calcium channels to junctions and modulate their inactivation kinetics, particularly for CaV2.1 channels through interactions with the II-III loop domain 13. Unlike other junctophilins, JPH4 does not support voltage-induced calcium release, as JPH4-induced ER-plasma membrane junctions contain CaV1.1 but exclude RYR1 channels 4. The protein appears to have broader physiological relevance, with recent studies identifying JPH4 as a potential biomarker in various disease contexts 56, though its specific role in these conditions requires further investigation.

Sources cited
1
JPH4 works with JPH3 to maintain Cav1-RyR2-KCa3.1 complex for neuronal excitability regulation
PMID: 31461656
2
JPH4 forms ER-PM junctions and interacts with CaV2.1 channels through II-III loop domain
PMID: 40118452
3
JPH4 recruits high-voltage-activated calcium channels and modifies their inactivation
PMID: 33769283
4
JPH4-induced junctions contain CaV1.1 but not RYR1 and cannot support voltage-induced calcium release
PMID: 35089322
5
JPH4 identified as part of diagnostic panel in prostate cancer study
PMID: 40264196
6
JPH4 plasma levels associated with urticaria risk in Mendelian randomization study
PMID: 39961865
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.40Weak
Genu valgumOpen Targets
0.12Weak
Genu varumOpen Targets
0.12Weak
Chronic mucocutaneous candidosisOpen Targets
0.03Suggestive
severe combined immunodeficiency due to CARD11 deficiencyOpen Targets
0.03Suggestive
endometrial carcinomaOpen Targets
0.02Suggestive
CirrhosisOpen Targets
0.01Suggestive
posterior cortical atrophyOpen Targets
0.01Suggestive
neoplasmOpen Targets
0.01Suggestive
metastatic melanomaOpen Targets
0.00Suggestive
prostate cancerOpen Targets
0.00Suggestive
endometrial cancerOpen Targets
0.00Suggestive
exstrophy-epispadias complexOpen Targets
0.00Suggestive
urticariaOpen Targets
0.00Suggestive
cancerOpen Targets
0.00Suggestive
hepatocellular carcinomaOpen Targets
0.00Suggestive
infectionOpen Targets
0.00Suggestive
myocardial infarctionOpen Targets
0.00Suggestive
acute myeloid leukemiaOpen Targets
0.00Suggestive
Uterine CarcinosarcomaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CACNA1DProtein interaction98%JPH1Shared pathway75%SYPL2Protein interaction73%ASPHProtein interaction72%CACNA1SProtein interaction72%RYR1Protein interaction72%
Tissue Expression6 tissues
Brain
100%
Ovary
47%
Bone Marrow
7%
Lung
2%
Liver
1%
Heart
1%
Gene Interaction Network
Click a node to explore
JPH4CACNA1DJPH1SYPL2ASPHCACNA1SRYR1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q96JJ6
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.86LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.58 [0.40–0.86]
RankingsWhere JPH4 stands among ~20K protein-coding genes
  • #15,897of 20,598
    Most Researched14
  • #7,547of 17,882
    Most Constrained (LOEUF)0.86
Genes detectedJPH4
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Junctophilins 1, 2, and 3 all support voltage-induced Ca2+ release despite considerable divergence.
PMID: 35089322
J Gen Physiol · 2022
1.00
2
Junctophilin Proteins Tether a Cav1-RyR2-KCa3.1 Tripartite Complex to Regulate Neuronal Excitability.
PMID: 31461656
Cell Rep · 2019
0.90
3
Interaction between Ca
PMID: 40118452
J Biol Chem · 2025
0.80
4
Neuronal junctophilins recruit specific Ca
PMID: 33769283
Elife · 2021
0.70
5
Integrating multi-cohort machine learning and clinical sample validation to explore peripheral blood mRNA diagnostic biomarkers for prostate cancer.
PMID: 40264196
Cancer Cell Int · 2025
0.60