JPH2 Antibody

1. a novel mutation in JPH2 which suggests for the first time that JPH2 could cause dilated cardiomyopathy. PMID: 27471098
2. Junctophilin-2 is cleaved by calpain at multiple sites, resulting in dysfunctional junctophilin-2 truncations. PMID: 26063807
3. Our data identify a mechanistic link between microtubule densification and T-tubule remodeling and reveal microtubule-mediated JP2 redistribution as a novel mechanism for T-tubule disruption, loss of excitation-contraction coupling, and heart failure. PMID: 24519927
4. The S101R mutation may have an effect upon the stability of the JP2 dyad organization with the potential to alter JP2-protein interactions regulating calcium cycling. PMID: 24001019
5. Hypertrophy in skeletal myotubes induced by junctophilin-2 mutant, Y141H, involves an increase in store-operated Ca2+ entry via Orai1. PMID: 22389502
6. Loss-of-function mutations in JPH2 leads to cardiac-specific JPH2 deficiency and results in impaired cardiac contractility, causing heart failure and increased mortality. PMID: 21339484
7. JPH2 levels are reduced in patients with hypertrophic cardiomyopathy. Reduced JPH2 expression results in reduced excitation-contraction coupling gain as well as altered Ca(2+) homeostasis, which may be associated with prohypertrophic remodeling. PMID: 21216834
8. S165F mutation of junctophilin 2 affects Ca2+ signalling in skeletal muscle. PMID: 20095964
9. this is the first report on JPH2 mutation associated with hypertrophic cardiomyopathy PMID: 17476457
10. Mutations in JPH2-encoded junctophilin-2 associated with hypertrophic cardiomyopathy. PMID: 17509612

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HGNC: 14202

OMIM: 605267

KEGG: hsa:57158

STRING: 9606.ENSP00000362071

UniGene: Hs.441737