CASQ2 Chromosome 1
Calsequestrin 2
Upload your DNA to see your personal genotypes for variants in CASQ2.
What This Gene Does
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]
Gene Info
Gene Group
Protein disulfide isomerases
Locus Type
gene with protein product
Location
1p13.1
Ensembl
ENSG00000118729
Associated Conditions (13)
Catecholaminergic polymorphic ventricular tachycardia 2
Catecholaminergic polymorphic ventricular tachycardia 1
Cardiovascular phenotype
CASQ2-related disorder
Cardiomyopathy
Polymorphic ventricular tachycardia
Sudden unexplained death
Long QT syndrome
Progressive familial heart block
Primary dilated cardiomyopathy
Conduction disorder of the heart
Catecholaminergic polymorphic ventricular tachycardia
Wolff-Parkinson-White pattern
Key Variants
RS1373884863
Conflicting classifications of pathogenicity
Catecholaminergic polymorphic ventricular tachycardia 2, Catecholaminergic polymorphic ventricular tachycardia 1, Cardiovascular phenotype
Health Risk
RS139281637
Conflicting classifications of pathogenicity
Catecholaminergic polymorphic ventricular tachycardia 2, Catecholaminergic polymorphic ventricular tachycardia 1, CASQ2-related disorder
Health Risk
RS141314684
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 2, Cardiomyopathy
Health Risk
RS142036299
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 2, Cardiovascular phenotype
Health Risk
RS146051391
Conflicting classifications of pathogenicity
Catecholaminergic polymorphic ventricular tachycardia 2, Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 1
Health Risk
RS146333579
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 1, CASQ2-related disorder
Health Risk
RS146664754
Conflicting classifications of pathogenicity
Polymorphic ventricular tachycardia, Catecholaminergic polymorphic ventricular tachycardia 2, Cardiovascular phenotype
Health Risk
RS148562107
Conflicting classifications of pathogenicity
Catecholaminergic polymorphic ventricular tachycardia 2, Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 1
Health Risk
RS148824162
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 1, Cardiovascular phenotype
Health Risk
RS150486780
Conflicting classifications of pathogenicity
Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1
Health Risk
RS151115064
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 2
Health Risk
RS199939582
Conflicting classifications of pathogenicity
Catecholaminergic polymorphic ventricular tachycardia 2, Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 2
Health Risk
All Variants (97)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1373884863 | Health Risk | Conflicting classifications of pathogenicity | Catecholaminergic polymorphic ventricular tachycardia 2, Catecholaminergic polymorphic ventricular tachycardia 1, Cardiovascular phenotype |
| RS139281637 | Health Risk | Conflicting classifications of pathogenicity | Catecholaminergic polymorphic ventricular tachycardia 2, Catecholaminergic polymorphic ventricular tachycardia 1, CASQ2-related disorder |
| RS141314684 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 2, Cardiomyopathy |
| RS142036299 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 2, Cardiovascular phenotype |
| RS146051391 | Health Risk | Conflicting classifications of pathogenicity | Catecholaminergic polymorphic ventricular tachycardia 2, Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 1 |
| RS146333579 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 1, CASQ2-related disorder |
| RS146664754 | Health Risk | Conflicting classifications of pathogenicity | Polymorphic ventricular tachycardia, Catecholaminergic polymorphic ventricular tachycardia 2, Cardiovascular phenotype |
| RS148562107 | Health Risk | Conflicting classifications of pathogenicity | Catecholaminergic polymorphic ventricular tachycardia 2, Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 1 |
| RS148824162 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 1, Cardiovascular phenotype |
| RS150486780 | Health Risk | Conflicting classifications of pathogenicity | Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1 |
| RS151115064 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 2 |
| RS199939582 | Health Risk | Conflicting classifications of pathogenicity | Catecholaminergic polymorphic ventricular tachycardia 2, Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 2 |
| RS200643387 | Health Risk | Conflicting classifications of pathogenicity | Catecholaminergic polymorphic ventricular tachycardia 2, Cardiovascular phenotype, Long QT syndrome |
| RS2101068877 | Health Risk | Conflicting classifications of pathogenicity | Catecholaminergic polymorphic ventricular tachycardia 1, Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 1 |
| RS368007942 | Health Risk | Conflicting classifications of pathogenicity | Catecholaminergic polymorphic ventricular tachycardia 2, Cardiovascular phenotype, Progressive familial heart block |
| RS375320117 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 1, Cardiovascular phenotype |
| RS376147306 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 2, Catecholaminergic polymorphic ventricular tachycardia 1 |
| RS377691566 | Health Risk | Conflicting classifications of pathogenicity | Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 2, Catecholaminergic polymorphic ventricular tachycardia 1 |
| RS397516640 | Health Risk | Conflicting classifications of pathogenicity | Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 2, Cardiovascular phenotype |
| RS397516641 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 2, Cardiomyopathy |
| RS545407254 | Health Risk | Conflicting classifications of pathogenicity | Catecholaminergic polymorphic ventricular tachycardia 2, Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 2 |
| RS548536938 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 2 |
| RS563342580 | Health Risk | Conflicting classifications of pathogenicity | Catecholaminergic polymorphic ventricular tachycardia 2, Catecholaminergic polymorphic ventricular tachycardia 2 |
| RS72554056 | Health Risk | Conflicting classifications of pathogenicity | Catecholaminergic polymorphic ventricular tachycardia 2, Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 1 |
| RS72554069 | Health Risk | Conflicting classifications of pathogenicity | Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1, Cardiovascular phenotype |
| RS72554070 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 1, Cardiovascular phenotype |
| RS74114618 | Health Risk | Conflicting classifications of pathogenicity | Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 2, Catecholaminergic polymorphic ventricular tachycardia 1 |
| RS750159744 | Health Risk | Conflicting classifications of pathogenicity | Conduction disorder of the heart, Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 2 |
| RS751885773 | Health Risk | Conflicting classifications of pathogenicity | Catecholaminergic polymorphic ventricular tachycardia 1, Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 1 |
| RS757789935 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 1, Cardiovascular phenotype |
| RS760688872 | Health Risk | Conflicting classifications of pathogenicity | Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1 |
| RS762153545 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 2 |
| RS762381137 | Health Risk | Conflicting classifications of pathogenicity | Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1 |
| RS771188512 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 2, Catecholaminergic polymorphic ventricular tachycardia 1 |
| RS773237428 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 1, Cardiovascular phenotype |
| RS774246167 | Health Risk | Conflicting classifications of pathogenicity | Catecholaminergic polymorphic ventricular tachycardia 2, Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 2 |
| RS774546117 | Health Risk | Conflicting classifications of pathogenicity | Catecholaminergic polymorphic ventricular tachycardia 2, Catecholaminergic polymorphic ventricular tachycardia 1, Cardiovascular phenotype |
| RS1060502164 | Health Risk | Likely pathogenic | Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 2 |
| RS1338756025 | Health Risk | Likely pathogenic | Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1 |
| RS1342655330 | Health Risk | Likely pathogenic | Catecholaminergic polymorphic ventricular tachycardia 2, Catecholaminergic polymorphic ventricular tachycardia 2 |
| RS1395036642 | Health Risk | Likely pathogenic | Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1 |
| RS1459829853 | Health Risk | Likely pathogenic | Catecholaminergic polymorphic ventricular tachycardia 2, Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 2 |
| RS147941846 | Health Risk | Likely pathogenic | — |
| RS1654199242 | Health Risk | Likely pathogenic | — |
| RS2464893043 | Health Risk | Likely pathogenic | Catecholaminergic polymorphic ventricular tachycardia 2, Catecholaminergic polymorphic ventricular tachycardia 2 |
| RS2526031776 | Health Risk | Likely pathogenic | Catecholaminergic polymorphic ventricular tachycardia 1, Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 1 |
| RS2526031953 | Health Risk | Likely pathogenic | Catecholaminergic polymorphic ventricular tachycardia 2, Catecholaminergic polymorphic ventricular tachycardia 2 |
| RS368728701 | Health Risk | Likely pathogenic | Catecholaminergic polymorphic ventricular tachycardia 1, Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 1 |
| RS397516643 | Health Risk | Likely pathogenic | Catecholaminergic polymorphic ventricular tachycardia, Catecholaminergic polymorphic ventricular tachycardia |
| RS773769524 | Health Risk | Likely pathogenic | Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1 |