Gene: CASQ2

Alternate names for this Gene: 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.

Gene is located in Chromosome: 1

Location in Chromosome : 1p13.1

Description of this Gene: calsequestrin 2

Type of Gene: protein-coding

rs4073778 in CASQ2 gene and Atrial Fibrillation PMID 30061737 2018 Biobank-driven genomic discovery yields new insight into atrial fibrillation biology.

PMID 29892015 2018 Multi-ethnic genome-wide association study for atrial fibrillation.

rs4074536 in CASQ2 gene and Heart Function Tests PMID 21076409 2010 Common variants in 22 loci are associated with QRS duration and cardiac ventricular conduction.

rs4074536 in CASQ2 gene and QRS complex feature PMID 27659466 2016 52 Genetic Loci Influencing Myocardial Mass.

rs121434549 in CASQ2 gene and Stress-induced polymorphic ventricular tachycardia PMID 21810866 2011 HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA).

PMID 15485681 2004 Calsequestrin mutant D307H exhibits depressed binding to its protein targets and a depressed response to calcium.

PMID 16908766 2006 Clinical phenotype and functional characterization of CASQ2 mutations associated with catecholaminergic polymorphic ventricular tachycardia.

PMID 11704930 2001 A missense mutation in a highly conserved region of CASQ2 is associated with autosomal recessive catecholamine-induced polymorphic ventricular tachycardia in Bedouin families from Israel.

PMID 27157848 2016 A novel heterozygous mutation in cardiac calsequestrin causes autosomal dominant catecholaminergic polymorphic ventricular tachycardia.

PMID 18399795 2008 Catecholaminergic polymorphic ventricular tachycardia-related mutations R33Q and L167H alter calcium sensitivity of human cardiac calsequestrin.

PMID 17881003 2007 Characterization of human cardiac calsequestrin and its deleterious mutants.

rs1060502164 in CASQ2 gene and VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder) PMID 12386154 2002 Absence of calsequestrin 2 causes severe forms of catecholaminergic polymorphic ventricular tachycardia.

PMID 19398665 2009 Incidence and risk factors of arrhythmic events in catecholaminergic polymorphic ventricular tachycardia.

PMID 21618644 2011 Functional analysis reveals splicing mutations of the CASQ2 gene in patients with CPVT: implication for genetic counselling and clinical management.