CASQ2 cDNA ORF clone, Homo sapiens(human)

Gene
Clones
gRNAs

Summary

Gene Symbol	CASQ2
Entrez Gene ID	845
Full Name	calsequestrin 2
Synonyms	PDIB2
General protein information	Preferred Names calsequestrin 2 Names calsequestrin-2 calsequestrin 2 (cardiac muscle) calsequestrin 2, fast-twitch, cardiac muscle calsequestrin, cardiac muscle isoform
Gene Type	protein-coding
Organism	Homo sapiens(human)
Genome	Chromosome: 1 Map Location: 1p13.1
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].
Disorder MIM:	114251
Disorder Html:	Ventricular tachycardia, catecholaminergic polymorphic, 2, 611938 (3)

mRNA and Protein(s)

mRNA	Protein	Name
NM_001232.3	NP_001223.2	calsequestrin-2 precursor

Pathways from BioSystems

Homologies

Rattus norvegicus (Norway rat)	Casq2	NP_058827.3
Homo sapiens (human)	CASQ2	NP_001223.2
Mus musculus (house mouse)	Casq2	NP_033944.2
Danio rerio (zebrafish)	casq2	NP_001002682.1
Gallus gallus (chicken)	CASQ2	NP_989857.1
Pan troglodytes (chimpanzee)	CASQ2	XP_513677.3
Canis lupus familiaris (dog)	CASQ2	XP_540252.4
Bos taurus (cattle)	CASQ2	NP_001030451.1
Xenopus tropicalis (tropical clawed frog)	MGC76326	NP_989136.1

Gene Ontology
Bibliography

Related articles in PubMed

Calsequestrin interacts directly with the cardiac ryanodine receptor luminal domain.
Handhle A, Ormonde CE, Thomas NL, Bralesford C, Williams AJ, Lai FA, Zissimopoulos S
Journal of cell science129(21)3983-3988(2016 11)

A novel heterozygous mutation in cardiac calsequestrin causes autosomal dominant catecholaminergic polymorphic ventricular tachycardia.
Gray B, Bagnall RD, Lam L, Ingles J, Turner C, Haan E, Davis A, Yang PC, Clancy CE, Sy RW, Semsarian C
Heart rhythm13(8)1652-60(2016 08)

Functional abnormalities in iPSC-derived cardiomyocytes generated from CPVT1 and CPVT2 patients carrying ryanodine or calsequestrin mutations.
Novak A, Barad L, Lorber A, Gherghiceanu M, Reiter I, Eisen B, Eldor L, Itskovitz-Eldor J, Eldar M, Arad M, Binah O
Journal of cellular and molecular medicine19(8)2006-18(2015 Aug)

Targeted next-generation sequencing (NGS) of nine candidate genes with custom AmpliSeq in patients and a cardiomyopathy risk group.
Glotov AS, Kazakov SV, Zhukova EA, Alexandrov AV, Glotov OS, Pakin VS, Danilova MM, Poliakova IV, Niyazova SS, Chakova NN, Komissarova SM, Kurnikova EA, Sarana AM, Sherbak SG, Sergushichev AA, Shalyto AA, Baranov VS
Clinica chimica acta; international journal of clinical chemistry446132-40(2015 Jun)

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

a direct interaction exists between RyR2 and CSQ2, is reported.
Title: Calsequestrin interacts directly with the cardiac ryanodine receptor luminal domain.

We show for the first time a heterozygous CASQ2 variant causing autosomal dominant CPVT in a large family with a severe phenotype.
Title: A novel heterozygous mutation in cardiac calsequestrin causes autosomal dominant catecholaminergic polymorphic ventricular tachycardia.

induced Pluripotent Stem Cell-derived cardiomyocytes are useful for investigating the similarities/differences in the pathophysiological consequences of RyR2 versus CASQ2 mutations underlying Catecholaminergic polymorphic ventricular tachycardia.
Title: Functional abnormalities in iPSC-derived cardiomyocytes generated from CPVT1 and CPVT2 patients carrying ryanodine or calsequestrin mutations.

Mutations in the MYBPC3 and CASQ2 genes and six combinations between loci in the MYBPC3, MYH7 and CASQ2 genes were responsible for cardiomyopathy risk in a studied cohort.
Title: Targeted next-generation sequencing (NGS) of nine candidate genes with custom AmpliSeq in patients and a cardiomyopathy risk group.

We observed association between a CASQ2 polymorphism and SCA due to VA in patients with CAD adjusting for CHF and independent associations between CASQ2 SNPs and CHF adjusting for SCA.
Title: Association of CASQ2 polymorphisms with sudden cardiac arrest and heart failure in patients with coronary artery disease.

The following CASQ2 gene cDNA ORF clone sequences were retrieved from the NCBI Reference Sequence Database (RefSeq). These sequences represent the protein coding region of the CASQ2 cDNA ORF which is encoded by the open reading frame (ORF) sequence. ORF sequences can be delivered in our standard vector, pcDNA3.1⁺/C-(K)DYK or the vector of your choice as an expression/transfection-ready ORF clone. Not the clone you want? Click here to find your clone.

***CloneID	Accession No.	Definition	**Vector	*Turnaround time	Price (USD)	Select
OHu18606	NM_001232.3 Latest version!	Homo sapiens calsequestrin 2 (CASQ2), mRNA.	pcDNA3.1-C-(k)DYK or customized vector	in pcDNA3.1-C-(k)DYK	$189.50-$265.30 $379.00

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** You may select a custom vector to replace pcDNA3.1+/C-(K)DYK after clone is added to cart.

** GenScript guarantees 100% sequence accuracy of all synthetic DNA constructs we deliver, but we do not guarantee protein expression in your experimental system. Protein expression is influenced by many factors that may vary between experiments or laboratories. In addition, please pay attention to the signal peptide, propeptide and transit peptide in target ORF, which may affect the choice of vector (N/C terminal tag vector).

***One clone ID might be correlated to multiple accession numbers, which share the same CDS sequence.

Reference Sequences (Refseq)

CASQ2 ( NM_001232.3 ) cDNA ORF clone, Homo sapiens(human) -> NP_001223.2 Homo sapiens calsequestrin 2 (CASQ2), mRNA.

Price & Availability↑

CloneID	OHu18606
Clone ID Related Accession (Same CDS sequence)	NM_001232.3
Accession Version	NM_001232.3 Latest version!	Documents for ORF clone product in default vector
Sequence Information	ORF Nucleotide Sequence (Length: 1200bp) Protein sequence SNP
Vector	pcDNA3.1-C-(k)DYK or customized vector	User Manual
Clone information	Clone Map	MSDS
Tag on pcDNA3.1⁺/C-(K)DYK	C terminal DYKDDDDK tags
ORF Insert Method	CloneEZ™ Seamless cloning technology
Insert Structure	linear
Update Date	2019-08-03
Organism	Homo sapiens(human)
Product	calsequestrin-2 precursor
Comment	Comment: REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from DC423064.1, D55655.1 and BM679349.1. This sequence is a reference standard in the RefSeqGene project. On May 22, 2008 this sequence version replaced NM_001232.2. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK129891.1, SRR1803613.41097.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN03267764 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## gene product(s) localized to mito. :: inferred from homology RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## COMPLETENESS: full length.

ATGAAGAGAA CTCACTTGTT TATTGTGGGG ATTTATTTTC TGTCCTCTTG CAGGGCAGAA 
GAGGGGCTTA ATTTCCCCAC ATATGATGGG AAGGACCGAG TGGTAAGTCT TTCCGAGAAG 
AACTTCAAGC AGGTTTTAAA GAAATATGAC TTGCTTTGCC TCTACTACCA TGAGCCGGTG 
TCTTCAGATA AGGTCACGCA AAAACAGTTC CAACTGAAAG AAATCGTGCT TGAGCTTGTG 
GCCCAGGTCC TTGAACATAA AGCTATAGGC TTTGTGATGG TGGATGCCAA GAAAGAAGCC 
AAGCTTGCCA AGAAACTGGG TTTTGATGAA GAAGGAAGCC TGTATATTCT TAAGGGTGAT 
CGCACAATAG AGTTTGATGG CGAGTTTGCA GCTGATGTCT TGGTGGAGTT CCTCTTGGAT 
CTAATTGAAG ACCCAGTGGA GATCATCAGC AGCAAACTGG AAGTCCAAGC CTTCGAACGC 
ATTGAAGACT ACATCAAACT CATTGGCTTT TTCAAGAGTG AGGACTCAGA ATACTACAAG 
GCTTTTGAAG AAGCAGCTGA ACACTTCCAG CCTTACATCA AATTCTTTGC CACCTTTGAC 
AAAGGGGTTG CAAAGAAATT ATCTTTGAAG ATGAATGAGG TTGACTTCTA TGAGCCATTT 
ATGGATGAGC CCATTGCCAT CCCCAACAAA CCTTACACAG AAGAGGAGCT GGTGGAGTTT 
GTGAAGGAAC ACCAAAGACC CACTCTACGT CGCCTGCGCC CAGAAGAAAT GTTTGAAACA 
TGGGAAGATG ATTTGAATGG GATCCACATT GTGGCCTTTG CAGAGAAGAG TGATCCAGAT 
GGCTACGAAT TCCTGGAGAT CCTGAAACAG GTTGCCCGGG ACAATACTGA CAACCCCGAT 
CTGAGCATCC TGTGGATCGA CCCGGACGAC TTTCCTCTGC TCGTTGCCTA CTGGGAGAAG 
ACTTTCAAGA TTGACCTATT CAGGCCACAG ATTGGGGTGG TGAATGTCAC AGATGCTGAC 
AGTGTCTGGA TGGAGATTCC AGATGATGAC GATCTTCCAA CTGCTGAGGA GCTGGAGGAC 
TGGATTGAGG ATGTGCTTTC TGGAAAGATA AACACTGAAG ATGATGATGA AGATGATGAT 
GATGATGATA ATTCTGATGA AGAGGATAAT GATGACAGTG ATGACGATGA TGATGAATAG

The stop codons will be deleted if pcDNA3.1⁺/C-(K)DYK vector is selected.

RefSeq	NP_001223.2
CDS	265..1464
Translation	MKRTHLFIVGIYFLSSCRAEEGLNFPTYDGKDRVVSLSEKNFKQVLKKYDLLCLYYHEPVSSDKVTQKQFQLKEIVLELVAQVLEHKAIGFVMVDAKKEAKLAKKLGFDEEGSLYILKGDRTIEFDGEFAADVLVEFLLDLIEDPVEIISSKLEVQAFERIEDYIKLIGFFKSEDSEYYKAFEEAAEHFQPYIKFFATFDKGVAKKLSLKMNEVDFYEPFMDEPIAIPNKPYTEEELVEFVKEHQRPTLRRLRPEEMFETWEDDLNGIHIVAFAEKSDPDGYEFLEILKQVARDNTDNPDLSILWIDPDDFPLLVAYWEKTFKIDLFRPQIGVVNVTDADSVWMEIPDDDDLPTAEELEDWIEDVLSGKINTEDDDEDDDDDDNSDEEDNDDSDDDDDE

Target ORF information:

RefSeq Version	NM_001232.3
Organism	Homo sapiens(human)
Definition	Homo sapiens calsequestrin 2 (CASQ2), mRNA.

Target ORF information:

Epitope	DYKDDDDK
Bacterial selection	AMP^R
Mammalian selection	Neo^R
Vector	pcDNA3.1⁺/C-(K)DYK

NM_001232.3

ORF Insert Sequence:

ATGAAGAGAA CTCACTTGTT TATTGTGGGG ATTTATTTTC TGTCCTCTTG CAGGGCAGAA 
GAGGGGCTTA ATTTCCCCAC ATATGATGGG AAGGACCGAG TGGTAAGTCT TTCCGAGAAG 
AACTTCAAGC AGGTTTTAAA GAAATATGAC TTGCTTTGCC TCTACTACCA TGAGCCGGTG 
TCTTCAGATA AGGTCACGCA AAAACAGTTC CAACTGAAAG AAATCGTGCT TGAGCTTGTG 
GCCCAGGTCC TTGAACATAA AGCTATAGGC TTTGTGATGG TGGATGCCAA GAAAGAAGCC 
AAGCTTGCCA AGAAACTGGG TTTTGATGAA GAAGGAAGCC TGTATATTCT TAAGGGTGAT 
CGCACAATAG AGTTTGATGG CGAGTTTGCA GCTGATGTCT TGGTGGAGTT CCTCTTGGAT 
CTAATTGAAG ACCCAGTGGA GATCATCAGC AGCAAACTGG AAGTCCAAGC CTTCGAACGC 
ATTGAAGACT ACATCAAACT CATTGGCTTT TTCAAGAGTG AGGACTCAGA ATACTACAAG 
GCTTTTGAAG AAGCAGCTGA ACACTTCCAG CCTTACATCA AATTCTTTGC CACCTTTGAC 
AAAGGGGTTG CAAAGAAATT ATCTTTGAAG ATGAATGAGG TTGACTTCTA TGAGCCATTT 
ATGGATGAGC CCATTGCCAT CCCCAACAAA CCTTACACAG AAGAGGAGCT GGTGGAGTTT 
GTGAAGGAAC ACCAAAGACC CACTCTACGT CGCCTGCGCC CAGAAGAAAT GTTTGAAACA 
TGGGAAGATG ATTTGAATGG GATCCACATT GTGGCCTTTG CAGAGAAGAG TGATCCAGAT 
GGCTACGAAT TCCTGGAGAT CCTGAAACAG GTTGCCCGGG ACAATACTGA CAACCCCGAT 
CTGAGCATCC TGTGGATCGA CCCGGACGAC TTTCCTCTGC TCGTTGCCTA CTGGGAGAAG 
ACTTTCAAGA TTGACCTATT CAGGCCACAG ATTGGGGTGG TGAATGTCAC AGATGCTGAC 
AGTGTCTGGA TGGAGATTCC AGATGATGAC GATCTTCCAA CTGCTGAGGA GCTGGAGGAC 
TGGATTGAGG ATGTGCTTTC TGGAAAGATA AACACTGAAG ATGATGATGA AGATGATGAT 
GATGATGATA ATTCTGATGA AGAGGATAAT GATGACAGTG ATGACGATGA TGATGAATAG

The stop codons will be deleted if pcDNA3.1⁺/C-(K)DYK vector is selected.

PubMed

Calsequestrin interacts directly with the cardiac ryanodine receptor luminal domain.
Journal of cell science129(21)3983-3988(2016 11)
Handhle A,Ormonde CE,Thomas NL,Bralesford C,Williams AJ,Lai FA,Zissimopoulos S

A novel heterozygous mutation in cardiac calsequestrin causes autosomal dominant catecholaminergic polymorphic ventricular tachycardia.
Heart rhythm13(8)1652-60(2016 08)
Gray B,Bagnall RD,Lam L,Ingles J,Turner C,Haan E,Davis A,Yang PC,Clancy CE,Sy RW,Semsarian C

Functional abnormalities in iPSC-derived cardiomyocytes generated from CPVT1 and CPVT2 patients carrying ryanodine or calsequestrin mutations.
Journal of cellular and molecular medicine19(8)2006-18(2015 Aug)
Novak A,Barad L,Lorber A,Gherghiceanu M,Reiter I,Eisen B,Eldor L,Itskovitz-Eldor J,Eldar M,Arad M,Binah O

Targeted next-generation sequencing (NGS) of nine candidate genes with custom AmpliSeq in patients and a cardiomyopathy risk group.
Clinica chimica acta; international journal of clinical chemistry446132-40(2015 Jun)
Glotov AS,Kazakov SV,Zhukova EA,Alexandrov AV,Glotov OS,Pakin VS,Danilova MM,Poliakova IV,Niyazova SS,Chakova NN,Komissarova SM,Kurnikova EA,Sarana AM,Sherbak SG,Sergushichev AA,Shalyto AA,Baranov VS

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CASQ2 cDNA ORF clone, Homo sapiens(human)

Gene

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Related articles in PubMed

Target ORF information:

Target ORF information:

ORF Insert Sequence:

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