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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

CASQ2 Gene

protein-coding GIFtS: 63
GCID: GC01M116242

calsequestrin 2 (cardiac muscle)

Explore 10 diseases affiliated with
CASQ2 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Calsequestrin 2 (Cardiac Muscle)¹ ²
PDIB2¹ ²
Calsequestrin, Cardiac Muscle Isoform² ³
Calsequestrin 2, Fast-Twitch, Cardiac Muscle²
Calsequestrin-2¹

External Ids:	HGNC: 1513¹	Entrez Gene: 845²	Ensembl: ENSG00000118729⁷	OMIM: 114251⁵	UniProtKB: O14958³

Export aliases for CASQ2 gene to outside databases

Previous GC identifers: GC01M116655 GC01M115124 GC01M115390 GC01M115589 GC01M115954 GC01M116044 GC01M114100

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for CASQ2:

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)

UniProtKB/Swiss-Prot: CASQ2_HUMAN, O14958

Function: 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. The skeletal muscle isoform (CASQ1) binds around 80 Ca(2+) ions, while the cardiac isoform (CASQ2)

binds approximately 60 Ca(2+) ions

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000001.10 NC_018912.1 NT_032977.9

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the CASQ2 gene promoter:
HOXA9 HOXA9B JunB Olf-1 Meis-1b MEF-2A JunD HSF2 aMEF-2 Meis-1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: CASQ2 promoter sequence

Search SABiosciences Chromatin IP Primers for CASQ2

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CASQ2

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1p13.1 Ensembl cytogenetic band: 1p13.1 HGNC cytogenetic band: 1p13.1

CASQ2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CASQ2 gene location

GeneLoc information about chromosome 1 GeneLoc Exon Structure

GeneLoc location for GC01M116242: view genomic region (about GC identifiers)

Start:	116,242,624 bp from pter	End:	116,311,426 bp from pter
Size:	68,803 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: CASQ2_HUMAN, O14958 (See protein sequence)

Recommended Name: Calsequestrin-2 precursor

Size: 399 amino acids; 46436 Da

Subunit: Monomer, homodimer and homooligomer. Mostly monomeric in the absence of calcium. Forms higher oligomers in a

calcium-dependent manner. Dimers associate to form tetramers, that then form linear homopolymer chains

Subcellular location: Sarcoplasmic reticulum lumen. Note=This isoform of calsequestrin occurs in the sarcoplasmic

reticulum's terminal cisternae luminal spaces of cardiac and slow skeletal muscle cells

1 PDB 3D structure from and Proteopedia for CASQ2:

2VAF (3D)

Secondary accessions: B2R7M6 Q5T1D2 Q8TBW8

Explore the universe of human proteins at neXtProt for CASQ2: NX_O14958

Post-translational modifications:

Phosphorylation in the C-terminus, probably by CK2, moderately increases calcium buffering capacity¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_O14958

CASQ2 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_001223.2

ENSEMBL proteins:

ENSP00000261448 ENSP00000403858

Reactome Protein details: O14958
Human Recombinant Protein Products for CASQ2:

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	Novus Biologicals CASQ2 Proteins Novus Biologicals CASQ2 Lysates
	Browse Sino Biological Recombinant Proteins
	ProSpec Recombinant Protein for CASQ2
	Uscn Proteins for CASQ2

Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005622	intracellular	IMP	16908766
GO:0005891	colocalizes with voltage-gated calcium channel complex	ISS	--
GO:0014701	junctional sarcoplasmic reticulum membrane	TAS	17569730
GO:0016529	sarcoplasmic reticulum	ISS	--
GO:0030018	Z disc	ISS	--

CASQ2 for ontologies About GeneDecksing

CASQ2 Antibody Products:

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	Uscn ELISAs and CLIAs for CASQ2

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

CASQ2 for domains About GeneDecksing

3 InterPro domains/families:

IPR001393 Calsequestrin

IPR012336 Thioredoxin-like_fold

IPR018233 Calsequestrin_CS

Graphical View of Domain Structure for InterPro Entry O14958

ProtoNet protein and cluster: O14958

1 Blocks protein family: IPB001393 Calsequestrin

UniProtKB/Swiss-Prot: CASQ2_HUMAN, O14958

Similarity: Belongs to the calsequestrin family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: CASQ2_HUMAN, O14958

Function: 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. The skeletal muscle isoform (CASQ1) binds around 80 Ca(2+) ions, while the cardiac isoform (CASQ2)

binds approximately 60 Ca(2+) ions

Genatlas biochemistry entry for CASQ2:

calsequestrin 2,44kDa,fast twitch,cardiac muscle (calcium storage protein in terminal cisternae os sarcoplasmic

reticulum)

Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005509	calcium ion binding	IDA	16601229
GO:0005515	protein binding	--	--
GO:0042803	protein homodimerization activity	ISS	--

CASQ2 for ontologies About GeneDecksing

Phenotypes:
3 MGI mutant phenotypes (inferred from 4 alleles) (MGI details for Casq2):

cardiovascular system

homeostasis/metabolism

muscle

CASQ2 for phenotypes About GeneDecksing

Animal Models:
Mouse knock-outs for CASQ2: Casq2^tm1Klmn Casq2^tm2Jse

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for CASQ2

miRNA Products:		OriGene 3'-UTR Clone: CASQ2 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CASQ2
		8 QIAGEN miScript miRNA Assays for microRNAs that regulate CASQ2:
		hsa-miR-607 hsa-miR-200c* hsa-miR-550a* hsa-miR-124 hsa-miR-466 hsa-miR-3920 hsa-miR-506 hsa-miR-626

		SwitchGear 3'UTR luciferase reporter plasmid: CASQ2 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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Gene Editing Products:			DNA2.0 Custom Protein Engineering Service for CASQ2
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		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CASQ2 (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CASQ2 OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CASQ2

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Ion channel transport

Ion channel transport

1.00

Stimuli-sensing channels

0.49

Antiarrhythmic Pathway, Pharmacodynamics

Antiarrhythmic Pathway, Pharmacodynamics

1.00

Calcium Regulation in the Cardiac Cell

Calcium Regulation in the Cardiac Cell

1.00

SLC-mediated transmembrane transport

Transmembrane transport of small molecules

0.50

Pathway sources
See GeneCards unified pathways
Show all pathways

1 BioSystems Pathway for CASQ2

Calcium Regulation in the Cardiac Cell

3 Reactome Pathways for CASQ2

	Transmembrane transport of small molecules
	Stimuli-sensing channels
	Ion channel transport

1 PharmGKB Pathway for CASQ2

Antiarrhythmic Pathway, Pharmacodynamics

CASQ2 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for CASQ2

STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

5/9 Interacting proteins for CASQ2 (O14958³ ENSP00000261448⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 9)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
ANKRD1	Q15327³, ENSP00000360762⁴	I2D: score=1 STRING: ENSP00000360762
CSNK2A2	P19784³, ENSP00000262506⁴	I2D: score=1 STRING: ENSP00000262506
CSNK2A1	P68400³, ENSP00000217244⁴	I2D: score=1 STRING: ENSP00000217244
TRDN	Q13061³	I2D: score=2
PRKCB	P05771³	I2D: score=1

About this table

Gene Ontology (GO): 5/12 biological process terms (GO ID links to tree view) (see all 12): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0002027	regulation of heart rate	IMP	16601229
GO:0006941	striated muscle contraction	TAS	9795116
GO:0010649	regulation of cell communication by electrical coupling	IMP	16908766
GO:0010880	regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum	ISS	--
GO:0010881	regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion	IMP	16601229

CASQ2 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

CASQ2 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for CASQ2

1 HMDB Compound for CASQ2 About this table

Compound	Synonyms	CAS #	PubMed Ids
Calcium	Ca (see all 2)	7440-70-2	--

4 Novoseek chemical compound relationships for CASQ2 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
ryanodine	80.1	22	17607358 (2), 14571276 (1), 18052993 (1), 19121813 (1) (see all 13)
calcium	50.5	36	15709687 (4), 16932808 (3), 16908766 (2), 14715535 (2) (see all 15)
histidine	30.5	4	19649236 (1), 15176429 (1)
aspartate	24.3	4	19649236 (1), 15176429 (1)

Search CenterWatch for drugs/clinical trials and news about CASQ2

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for CASQ2 gene:

NM_001232.3

Unigene Cluster for CASQ2:

Calsequestrin 2 (cardiac muscle)

Hs.57975 [show with all ESTs]

Unigene Representative Sequence: NM_001232

4 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000261448(uc001efx.4 uc010owu.2) ENST00000460136 ENST00000488931

ENST00000456138

miRNA Products:		OriGene 3'-UTR Clone: CASQ2 Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CASQ2
		8 QIAGEN miScript miRNA Assays for microRNAs that regulate CASQ2:
		hsa-miR-607 hsa-miR-200c* hsa-miR-550a* hsa-miR-124 hsa-miR-466 hsa-miR-3920 hsa-miR-506 hsa-miR-626

		SwitchGear 3'UTR luciferase reporter plasmid: CASQ2 3' UTR sequence

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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CASQ2

Additional cDNA sequence:

AK129831.1 AK129891.1 AK225959.1 AK293595.1 AK295502.1 AK313041.1 BC022288.1 D55655.1

6 DOTS entries:

DT.112191 DT.102823995 DT.121333583 DT.121333598 DT.99963614 DT.91654404

24/78 AceView cDNA sequences (see all 78):

BF725765 AI932721 CF551835 AK129831 F30464 BF574681 AI243323 BM679349

W68692 AW590420 F36930 AI055944 AW135354 AI969998 CF551947 AW955775

AJ708701 AW513777 BU743045 AI185764 CD679250 BM720644 AW075319 BM718605

GeneLoc Exon Structure

3 Alternative Splicing Database (ASD) splice patterns (SP) for CASQ2 About this scheme

ExUns:	1	^	2a	·	2b	^	3	^	4	^	5a	·	5b	·	5c	^	6	^	7	^	8	^	9	^	10	^	11	^	12
SP1:											-
SP2:			-								-
SP3:

ECgene alternative splicing isoforms for CASQ2

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

CASQ2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TGTAAGACAC

About this image

CASQ2 expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

2 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Reproductive System

Testis

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 2 LifeMap Cells

Name

Category

PureStem™ progenitor SK17 (Embryonic Progenitor Cell)

White adipocyte-like cells (Differentiation of ...)

Adipose

See CASQ2 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for CASQ2

SOURCE GeneReport for Unigene cluster: Hs.57975

SABiosciences Custom PCR Arrays for CASQ2

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CASQ2

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for CASQ2 gene from 5/18 species (see all 18) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	CASQ2¹	calsequestrin 2 (cardiac muscle)	78.7(n) 79.95(a)		395198 NM_204526.1 NP_989857.1
lizard (Anolis carolinensis)	Reptilia	CASQ2⁶	--	71(a)	1 ↔ 1	2(82842695-82896094)
African clawed frog (Xenopus laevis)	Amphibia	LOC398424²	similar to calsequestrin 2 (cardiac muscle)	77.65(n)		BC041283.1
zebrafish (Danio rerio)	Actinopterygii	casq2¹	calsequestrin 2	71.49(n) 70.05(a)		114410 NM_001002682.1 NP_001002682.1
worm (Caenorhabditis elegans)	Secernentea	csq-1⁶	CalSeQuestrin family member (csq-1)	29(a)	1 → many	X(14684806-14688296)

ENSEMBL Gene Tree for CASQ2 (if available)
TreeFam Gene Tree for CASQ2 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for CASQ2 gene

CASQ1²

1 SIMAP similar gene for CASQ2 using alignment to 3 protein entries: CASQ2_HUMAN (see all proteins):

CASQ1

CASQ2 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 1 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs28730716^1,2	C,F	probable-pathogenic	114127726(-)	`GGAACA/GCCAAA`	2	H R	mis¹ ese³		5		NS WA NA EU	5951
rs74520962^1,2		--	114100927(+)	`GCACTT/CTGGGA`	1	--	ut3¹		1		WA	118
rs28730709^1,2	C,F	--	114101807(-)	`TTTGCG/ATCAGG`	1	--	ut3¹ ese³		1		EA	120
rs72554069^1,2	C,F	--	114102001(-)	`ATGATGAT/-AATTC`	1	--	cds¹		3		CSA	326
rs115659786^1,2	C,F	--	114102613(+)	`GACATT/GGNNNN`	1	--	int¹		1		WA	118
rs113182054^1,2	F	--	114103257(+)	`CACAAT/CGGCCC`	1	--	int¹		2		CSA	5
rs10923210^1,2	C,F,H	--	114103450(+)	`GGAACC/TACAGA`	1	--	int¹		7		NS EA WA	860
rs28730714^1,2	C	--	114103764(-)	`CGGGTG/TGGTCC`	1	--	int¹		2		CSA WA	120
rs76782549^1,2		--	114104336(+)	`AAACAC/TATAGA`	1	--	int¹		0	--	--	--	--
rs75032878^1,2		--	114104878(+)	`AGATCA/CCTCTC`	1	--	int¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for CASQ2 (116242624 - 116311426 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 4 variations for CASQ2
3 CNVs: 64669 2322 3306
1 Indel: 97477
Human Gene Mutation Database (HGMD): CASQ2

SABiosciences Cancer Mutation PCR Assays

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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CASQ2 for disorders           About GeneDecksing

OMIM gene information: 114251
OMIM disorders: 611938
UniProtKB/Swiss-Prot: CASQ2_HUMAN, O14958

Defects in CASQ2 are the cause of catecholaminergic polymorphic ventricular tachycardia type 2 (CPVT2)

[MIM:611938]; also known as stress-induced polymorphic ventricular tachycardia (VTSIP). CPVT2 is an autosomal

recessive form of arrhythmogenic disorder characterized by stress-induced, bidirectional ventricular tachycardia that

may degenerate into cardiac arrest and cause sudden death

10 diseases for CASQ2: About MalaCards

catecholaminergic polymorphic ventricular tachycardia ventricular tachycardia ventricular tachycardia, catecholaminergic polymorphic, 2 gas gangrene

hypertrophic cardiomyopathy familial hypertrophic cardiomyopathy cardiomyopathy strabismus

twinning thyroiditis

5 diseases from the University of Copenhagen DISEASES database for CASQ2:

Malignant hyperthermia Heart disease Gas gangrene Myopathy

Hyperthyroidism

6 Novoseek disease relationships for CASQ2 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
ventricular tachycardia, catecholaminergic polymorphic	97.5	16	14571276 (2), 16908766 (2), 17607358 (1), 19121813 (1) (see all 12)
tachycardia ventricular	75.8	5	12732448 (1), 17607358 (1), 11704930 (1), 15176429 (1)
emotional stress	73.1	1	15709687 (1)
death sudden	67.1	2	15709687 (1), 14715535 (1)
ventricular arrhythmia	65.6	4	15709687 (1), 16932808 (1), 14715535 (1)
arrhythmia	64.9	8	15709687 (1), 17607358 (1), 19121813 (1), 14715535 (1) (see all 6)

GeneTests: CASQ2

Catecholaminergic Polymorphic Ventricular Tachycardia

Human Genome Epidemiology (HuGE) Navigator: CASQ2 (1 document)

Export disorders for CASQ2 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for CASQ2 gene, integrated from 9 sources (see all 78):
(articles sorted by number of sources associating them with CASQ2)

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Clinical phenotype and functional characterization of CASQ2 mutations associated with catecholaminergic polymorphic ventricular tachycardia. (PubMed id 16908766)^{1, 2, 9} di Barletta M.R.... Priori S.G. (2006)
Molecular genetics of exercise-induced polymorphic ventricular tachycardia: identification of three novel cardiac ryanodine receptor mutations and two common calsequestrin 2 amino-acid polymorphisms. (PubMed id 14571276)^{1, 2, 9} Laitinen P.J.... Kontula K. (2003)
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. (PubMed id 11704930)^{1, 2, 9} Lahat H....Eldar M. (2001)
Chromosome mapping of five human cardiac and skeletal muscle sarcoplasmic reticulum protein genes. (PubMed id 8406504)^{1, 3, 9} Otsu K....MacLennan D.H. (1993)
Phosphorylation of human calsequestrin: implications for calcium regulation. (PubMed id 21416293)^{1, 2} Sanchez E.J....Kang C. (2011)
Catecholaminergic polymorphic ventricular tachycardia-related mutations R33Q and L167H alter calcium sensitivity of human cardiac calsequestrin. (PubMed id 18399795)^{1, 2} Valle G....Volpe P. (2008)
Characterization of human cardiac calsequestrin and its deleterious mutants. (PubMed id 17881003)^{1, 2} Kim E....Kang C. (2007)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
Calsequestrin mutant D307H exhibits depressed binding to its protein targets and a depressed response to calcium. (PubMed id 15485681)^{1, 2} Houle T.D.... Cala S.E. (2004)
Calsequestrin 2 (CASQ2) mutations increase expression of calreticulin and ryanodine receptors, causing catecholaminergic polymorphic ventricular tachycardia. (PubMed id 17607358)^{1, 9} Song L....Seidman J.G. (2007)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 845	HGNC: 1513	AceView: CASQ2	Ensembl:ENSG00000118729	euGenes: HUgn845
ECgene: CASQ2	H-InvDB: CASQ2

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for CASQ2	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CASQ2
Wikipedia	http://en.wikipedia.org/wiki/Calsequestrin

Intellectual Property for CASQ2 gene
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Patent Information for CASQ2 gene:
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calsequestrin 2 (cardiac muscle)

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calsequestrin 2 (cardiac muscle)

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