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FLASH GENE

Symbol

JPH2

contributors: mct - updated : 24-08-2009

HGNC name	junctophilin 2
HGNC id	14202

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

Susceptibility

to hypertrophic cardiomyopathy

Variant & Polymorphism other	mutation increasing the risk of hypertrophic cardiomyopathy (S101R, Y141H and S165F, which localize to key functional domains) (Landstrom 2007)

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

JPH2 knockout mice showed disrupted calcium transients, altered junctional membrane complex formation, cardiomyopathy, and embryonic lethality (Landstrom 2007)