Calsequestrin 2 (CASQ2)

PDIB2; Cardiac Muscle Calsequestrin; Calsequestrin, cardiac muscle isoform

SPN	R311
HGNC	1513
MGI	1309469
PubMed	16908766
RGD	2276
UniProt	O14958
Wiki	CASQ2

Calsequestrin 2 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.

Calsequestrin is a high-capacity, moderate affinity, calcium-binding protein and thus acts as an internal calcium store in muscle. The release of calcium bound to calsequestrin through a calcium release channel triggers muscle contraction

Reference

"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]

"The DNA sequence and biological annotation of human chromosome 1."
Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

"A quantitative atlas of mitotic phosphorylation."
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]

"Phosphorylation of human calsequestrin: implications for calcium regulation."
Mol. Cell. Biochem. 353:195-204(2011) [PubMed] [Europe PMC] [Abstract]

"Characterization of human cardiac calsequestrin and its deleterious mutants."
J. Mol. Biol. 373:1047-1057(2007) [PubMed] [Europe PMC] [Abstract]

"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."
Am. J. Hum. Genet. 69:1378-1384(2001) [PubMed] [Europe PMC] [Abstract]

"Molecular genetics of exercise-induced polymorphic ventricular tachycardia: identification of three novel cardiac ryanodine receptor mutations and two common calsequestrin 2 amino-acid polymorphisms."
Eur. J. Hum. Genet. 11:888-891(2003) [PubMed] [Europe PMC] [Abstract]

"Calsequestrin mutant D307H exhibits depressed binding to its protein targets and a depressed response to calcium."
Cardiovasc. Res. 64:227-233(2004) [PubMed] [Europe PMC] [Abstract]

"Clinical phenotype and functional characterization of CASQ2 mutations associated with catecholaminergic polymorphic ventricular tachycardia."
Circulation 114:1012-1019(2006) [PubMed] [Europe PMC] [Abstract]

"Catecholaminergic polymorphic ventricular tachycardia-related mutations R33Q and L167H alter calcium sensitivity of human cardiac calsequestrin."
Biochem. J. 413:291-303(2008) [PubMed] [Europe PMC] [Abstract]