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FLASH GENE

Symbol

CASQ2

contributors: mct/npt/pgu - updated : 02-12-2016

HGNC name	calsequestrin 2 (cardiac muscle)
HGNC id	1513

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

VTSIP2

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional   deletion     causes sarcoplasmic reticulum volume increase, premature Ca2+ release, and catecholaminergic polymorphic ventricular tachycardia constitutional       gain of function in the thyroid of patients with Graves Hyperthyroidism may lead to the production of autoantibodies and sensitized T-lymphocytes, which cross-react with calsequestrin in the extraocular muscle of patients who develop ophthalmopathy constitutional     --over   enhances hypertrophy of neonatal cardiomyocytes, and the perinuclear enriched form of CASQ2 produces a more pronounced effect compared with CASQ2-WT, consistent with their differential contributions to nuclear Ca2+ levels

Susceptibility

to familial hypertrophic cardiomyopathy

Variant & Polymorphism other	variant identified in the CASQ2 gene (Asp63Glu)in familial hypertrophic cardiomyopathy

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS