CASQ2 Back

calsequestrin 2 (cardiac muscle)

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NCBI Description of CASQ2
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.

Community Annotation of CASQ2 Add / Edit CASQ2: Annotations

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Figure notes


• "Mouse over" a mutation to see details.
• Missense green saturation indicates evolutionary conservation of the mutated positions.
• Red hashes in protein strip are splice sites.
• Blue-white-red bars are log2 copy ratio distributions (–1 to +1) from Zack et al. (2013).


Legend

CASQ2 is highly significantly mutated in
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CASQ2 is significantly mutated in
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CASQ2 is near significance in
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Click on a tumor type to see its full list of significant genes.

Data details


• Mutation list for CASQ2