CASQ2, Official Symbol CASQ2provided by HGNC Official Full Name calsequestrin 2provided by HGNC Primary source HGNC:HGNC:1513 See related Ensembl:ENSG00000118729 MIM:114251; AllianceGenome:HGNC:1513 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo 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 See more Orthologs mouse all