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Article

Mutation of junctophilin type 2 associated with hypertrophic cardiomyopathy.

Journal of human genetics - 1 Jan 2007

Matsushita Yoshihisa, Furukawa Toru, Kasanuki Hiroshi, Nishibatake Makoto, Kurihara Yachiyo, Ikeda Atsushi, Kamatani Naoyuki, Takeshima Hiroshi, Matsuoka Rumiko

Abstract excerpt

Junctophilin subtypes, designated as JPH1 approximately 4, are protein components of junctional complexes and play essential roles in cellular Ca2+ signaling in excitable cells. Knockout mice lacking the cardiac-type Jph2 die of embryonic cardiac arrest, and the mutant cardiac myocytes exhibit impaired formation of peripheral couplings and arrhythmic Ca2+ signaling caused by functional uncoupling between...

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Source

Identifiers

PMID: 17476457
DOI: 10.1007/s10038-007-0149-y

Genes

JPH2
JPH1

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→

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Mutation of junctophilin type 2 associated with hypertrophic cardiomyopathy.PMID 17476457Read ↗

Mutations in JPH2-encoded junctophilin-2 associated with hypertrophic cardiomyopathy in humans.Semantic proximity Read ↗

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

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

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 ↗

The role of junctophilin proteins in cellular functionSemantic proximity Read ↗

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

The Drosophila junctophilin gene is functionally equivalent to its four mammalian counterparts and is a modifier of a Huntingtin poly-Q expansion and the Notch pathway.Semantic proximity Read ↗

Mutation in JPH2 cause dilated cardiomyopathy.Semantic proximity Read ↗

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

The junctophilin family of proteins: from bench to bedside.Semantic proximity Read ↗

Junctophilin-2 physically interacts with ryanodine receptor type 2 for peripheral coupling of mouse cardiomyocytesSemantic proximity Read ↗

Molecular evolution of the junctophilin gene familySemantic proximity Read ↗

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