Entrez gene ID | | 845 |
Official gene symbol | | CASQ2 |
Full name | | calsequestrin 2 (cardiac muscle) |
Aliases | | ,FLJ26321,FLJ93514,PDIB2, |
Gene 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] |
Location | | Chromosome: 1 Locus: 1p13.3-p11 |
Gene position | | 116311426 - 116242624 Map Viewer |
Gene orientation | | minus |
Gene size | | 68803 bp |
Gene sequence |
| |
OMIM ID | | 114251 |