CASQ2 calsequestrin 2 (cardiac muscle) [Homo sapiens] - Gene

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Summary

Official Symbol: CASQ2provided by HGNC
Official Full Name: calsequestrin 2 (cardiac muscle)provided by HGNC
Primary source: HGNC:1513
See related: Ensembl:ENSG00000118729; HPRD:00256; MIM:114251; Vega:OTTHUMG00000011970
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: PDIB2; FLJ26321; FLJ93514
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, Jul 2008]

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Genomic context

Location :: 1p13.3-p11

Sequence :: Chromosome: 1; NC_000001.10 (116242624..116311426, complement)

See CASQ2 in Epigenomics, MapViewer

Chromosome 1 - NC_000001.10 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

Ca(2+) and JNT-dependent disassembly of the CSQ2 polymer
Title: Role of Junctin protein interactions in cellular dynamics of calsequestrin polymer upon calcium perturbation.
Two causative genes of CPVT have been identified: RYR2, encoding the cardiac ryanodine receptor (RyR2) Ca(2+) release channel, and CASQ2, encoding cardiac calsequestrin. Their mutation have been found in 60% of patients with CPVT.
Title: Mechanism underlying catecholaminergic polymorphic ventricular tachycardia and approaches to therapy.
Common variations in or near CASQ2, GPD1L, and NOS1AP are associated with increased risk of sudden cardiac death in patients with coronary artery disease
Title: Common variants in CASQ2, GPD1L, and NOS1AP are significantly associated with risk of sudden death in patients with coronary artery disease.
Studies identified two phosphorylation sites, Ser(385) and Ser(393 in hCASQ2 by mass-spectroscopy.
Title: Phosphorylation of human calsequestrin: implications for calcium regulation.
Catecholaminergic polymorphic ventricular tachycardia (CPTV) mutations modify CASQ2 behaviour, including folding, aggregation/polymerization and selectivity towards Ca2+.
Title: Probing cationic selectivity of cardiac calsequestrin and its CPVT mutants.
up-regulation of casq2 gene in the thyroid of patients with Graves' Hyperthyroidism may lead to the production of autoantibodies and sensitized T-lymphocytes, which cross-react with calsequestrin of patients who develop ophthalmopathy.
Title: The cardiac calsequestrin gene (CASQ2) is up-regulated in the thyroid in patients with Graves' ophthalmopathy--support for a role of autoimmunity against calsequestrin as the triggering event.
A regulatory role of CASQ2 on cytosolic Ca(2+) and hERG channels which may contribute to the etiology of CPVT.
Title: Modulation of human ether a gogo related channels by CASQ2 contributes to etiology of catecholaminergic polymorphic ventricular tachycardia (CPVT).
The human CASQ2 mutation K206N is associated with hyperglycosylation and altered cellular calcium handling.
Title: The human CASQ2 mutation K206N is associated with hyperglycosylation and altered cellular calcium handling.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variability of RyR2 and CASQ2 genes in an Asian population.
Facilitated maturation of Ca2+ handling properties of human embryonic stem cell-derived cardiomyocytes by calsequestrin expression.
Title: Facilitated maturation of Ca2+ handling properties of human embryonic stem cell-derived cardiomyocytes by calsequestrin expression.

Submit: New GeneRIF Correction See all (25)

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Phenotypes

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Common variants in 22 loci are associated with QRS duration and cardiac ventricular conduction.

Ventricular tachycardia, catecholaminergic polymorphic, 2

MIM: 611938

Ventricular tachycardia, stress-induced polymorphic

MIM: 604772

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Products	Interactant	Other Gene	Source	Pubs	Description
O14958	Q15327	ANKRD1	HPRD	PubMed
O14958	P68400	CSNK2A1	HPRD	PubMed
O14958	P19784	CSNK2A2	HPRD	PubMed
O14958	Q13061	TRDN	HPRD	PubMed
BioGRID:107295	BioGRID:115627	TRDN	BioGRID	PubMed	Reconstituted Complex

Function	Evidence Code	Pubs
calcium ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
heart development	TAS Traceable Author Statement more info	PubMed
striated muscle contraction	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
sarcoplasmic reticulum lumen	IEA Inferred from Electronic Annotation more info

General protein information

Preferred Names: calsequestrin-2

Names: calsequestrin-2; calsequestrin, cardiac muscle isoform; calsequestrin 2, fast-twitch, cardiac muscle

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NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_008802.1 RefSeqGene

Range

5001..73803

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001232.3 → NP_001223.2 calsequestrin-2 precursor

Status: REVIEWED

Source sequence(s)

BM679349, D55655, DC423064

Consensus CDS

CCDS884.1

UniProtKB/Swiss-Prot

O14958

Related

ENSP00000261448, OTTHUMP00000013749, ENST00000261448, OTTHUMT00000033091

Conserved Domains (4) summary

cd03065
Location:24 – 143
Blast Score: 390

PDI_b_Calsequestrin_N; PDIb family, Calsequestrin subfamily, N-terminal TRX-fold domain; Calsequestrin is the major calcium storage protein in the sarcoplasmic reticulum (SR) of skeletal and cardiac muscle. It stores calcium ions in sufficient quantities (up to 20 mM) to allow ...

cd03066
Location:145 – 246
Blast Score: 404

PDI_b_Calsequestrin_middle; PDIb family, Calsequestrin subfamily, Middle TRX-fold domain; Calsequestrin is the major calcium storage protein in the sarcoplasmic reticulum (SR) of skeletal and cardiac muscle. It stores calcium ions in sufficient quantities (up to 20 mM) to allow ...

cd03074
Location:247 – 366
Blast Score: 520

PDI_b'_Calsequestrin_C; Protein Disulfide Isomerase (PDIb') family, Calsequestrin subfamily, C-terminal TRX-fold domain; Calsequestrin is the major calcium storage protein in the sarcoplasmic reticulum (SR) of skeletal and cardiac muscle. It stores calcium ions in sufficient ...

pfam01216
Location:22 – 371
Blast Score: 1502

Calsequestrin; Calsequestrin

RefSeqs of Annotated Genomes: Build 37.3

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000001.10 Reference GRCh37.p5 Primary Assembly

Range

116242624..116311426, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000133.1 Alternate HuRef

Range

114100712..114169492, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AL449264.18	CAI14532.1
genomic	AL450389.12	CAI23373.1
genomic	CH471122.1	EAW56635.1
		EAW56636.1
mRNA	AK129831.1	None
mRNA	AK129891.1	None
mRNA	AK225959.1	None
mRNA	AK293595.1	BAG57061.1
mRNA	AK295502.1	BAG58422.1
mRNA	AK313041.1	BAG35873.1
mRNA	BC022288.1	AAH22288.1
mRNA	BM679349.1	None
mRNA	D55655.1	BAA23494.1
mRNA	DC423064.1	None
other-genetic	DQ893219.2	ABM84145.1
other-genetic	DQ896548.2	ABM87547.1