Full name: calsequestrin 2

Gene type: protein coding

RefSeq status: REVIEWED

Also known as: PDIB2

Summary: The protein encoded by this gene specifies the cardiac muscle family member of the calsequestrin family. Calsequestrin is localized to the sarcoplasmic reticulum in cardiac and slow skeletal muscle cells. The protein is a calcium binding protein that stores calcium for muscle function. Mutations in this gene cause stress-induced polymorphic ventricular tachycardia, also referred to as catecholaminergic polymorphic ventricular tachycardia 2 (CPVT2), a disease characterized by bidirectional ventricular tachycardia that may lead to cardiac arrest. [provided by RefSeq, Jul 2008]

Expression: Biased expression in heart (RPKM 404.6), urinary bladder (RPKM 24.0) and 2 other tissues

Gene size: 68694bp

Exon count: 11