| Primary Identifier | MGI:1309469 | Organism | mouse, laboratory |
| Chromosome | 3 | NCBI Gene Number | 12373 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables calcium ion sequestering activity. Involved in several processes, including regulation of membrane repolarization; regulation of monoatomic cation transmembrane transport; and sarcomere organization. Acts upstream of or within regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion. Located in Z disc and sarcoplasmic reticulum lumen. Part of junctional membrane complex. Is expressed in several structures, including cardiovascular system; diaphragm; eye; male reproductive system; and skeletal muscle. Used to study catecholaminergic polymorphic ventricular tachycardia 2. Human ortholog(s) of this gene implicated in catecholaminergic polymorphic ventricular tachycardia 2. Orthologous to human CASQ2 (calsequestrin 2). PHENOTYPE: Mutations in this gene cause impaired intracellular calcium regulation in cardiac myocytes and lead to an arrhythmogenic syndrome called catecholaminergic polymorphic ventricular tachycardia. [provided by MGI curators] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
