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Article

Mutations in JPH2-encoded junctophilin-2 associated with hypertrophic cardiomyopathy in humans.

Journal of molecular and cellular cardiology - 1 Jun 2007

Landstrom Andrew P, Weisleder Noah, Batalden Karin B, Bos J Martijn, Tester David J, Ommen Steve R, Wehrens Xander H T, Claycomb William C, Ko Jae-Kyun, Hwang Moonsun, Pan Zui, Ma Jianjie, Ackerman Michael J

Abstract excerpt

Junctophilin-2 (JPH2) is a cardiac specific member of the junctophilins, a newly characterized family of junctional membrane complex proteins important in physically approximating the plasmalemmal L-type calcium channel and the sarcoplasmic reticulum ryanodine receptor for calcium-induced calcium release. JPH2 knockout mice showed disrupted calcium transients, altered junctional membrane complex formation,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 17509612
DOI: 10.1016/j.yjmcc.2007.04.006
PMCID: PMC4318564

Genes

JPH2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutations in JPH2-encoded junctophilin-2 associated with hypertrophic cardiomyopathy in humans.PMID 17509612Read ↗

Analysis of enriched rare variants in JPH2-encoded junctophilin-2 among Greater Middle Eastern individuals reveals a novel homozygous variant associated with neonatal dilated cardiomyopathySemantic proximity Read ↗

Mutation of junctophilin type 2 associated with hypertrophic cardiomyopathy.Semantic proximity Read ↗

Emerging role of junctophilin-2 as a regulator of calcium handling in the heart.Semantic proximity Read ↗

The role of junctophilin proteins in cellular functionSemantic proximity Read ↗

Heterozygous junctophilin-2 (JPH2) p.(Thr161Lys) is a monogenic cause for HCM with heart failureSemantic proximity Read ↗

Mutation E169K in junctophilin-2 causes atrial fibrillation due to impaired RyR2 stabilization.Semantic proximity Read ↗

S165F mutation of junctophilin 2 affects Ca2+ signalling in skeletal muscle.Semantic proximity Read ↗

Functional characterization of a novel JPH2 variant (p.R160H) associated with dilated cardiomyopathy.Semantic proximity Read ↗

Structures of the junctophilin/voltage-gated calcium channel interface reveal hot spot for cardiomyopathy mutations.Semantic proximity Read ↗

Loss-of-function variants in<i>JPH1</i>cause congenital myopathy with prominent facial involvementSemantic proximity Read ↗

<i>MYBPC3</i>(c.194C>T) mutation-mediated RyR2 dysfunction contributes to pathogenic phenotypes of dilated cardiomyopathy revealed by hiPSC modelingSemantic proximity Read ↗

Mutation in JPH2 cause dilated cardiomyopathy.Semantic proximity Read ↗

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