Casq2
Gene Detail

Symbol Name ID

Casq2 calsequestrin 2 MGI:1309469

Synonyms

cardiac calsequestrin, cCSQ, ESTM52

Feature Type

protein coding gene

Genetic Map

Chromosome 3

44.30 cM, cytoband F3
Detailed Genetic Map ± 1 cM


Mapping data(2)

Sequence Map

Chr3:102086415-102146514 bp, + strand From VEGA annotation of GRCm38   60100 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate homology

HomoloGene:20330  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Gene Tree: Casq2

Human homologs

Human Homolog		CASQ2, calsequestrin 2 (cardiac muscle)
NCBI Gene ID		845
neXtProt AC		NX_O14958
Human Synonyms		PDIB2
Human Chr (Location)		1p13.1; chr1:116242624-116311426 (-)  GRCh37.p10
Disease Associations		(2) Diseases Associated with Human CASQ2

Alleles and phenotypes

All alleles(8) : Targeted(6) Gene trapped(2)
 

Mutations in this gene cause impaired intracellular calcium regulation in cardiac myocytes and lead to an arrhythmogenic syndrome called catecholaminergic polymorphic ventricular tachycardia.

 
Human Diseases Modeled Using Mouse Casq2 (1)    Alleles Annotated to Human Diseases(4)    Phenotype Images(2)

Gene Ontology (GO) classifications

All GO classifications: (24 annotations)

Process	cellular response to caffeine, negative regulation of potassium ion transmembrane transporter activity, ...
Component	cytoplasm, intracellular, ...
Function	calcium ion binding, protein homodimerization activity, ...

External Resources: FuncBase

Expression

Literature Summary: (12 records)
Data Summary: Results (47)    Tissues (33)    Images (7)
Theiler Stages: 11, 13, 17, 20, 21, 22, 23, 24, 26, 28

Assay Type	Results
RNA in situ	24
Western blot	8
RT-PCR	15

cDNA source data(91)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(95) cDNA(91) Primer pair(4)
Microarray probesets(3)

Other database links

VEGA Gene Model	OTTMUSG00000031087 (Evidence)
Ensembl Gene Model	ENSMUSG00000027861 (Evidence)
Entrez Gene	12373 (Evidence)
UniGene	15343
DFCI	TC1577489
DoTS	DT.533359
NIA Mouse Gene Index	U003645
Consensus CDS Project	CCDS51023.1
International Mouse Knockout Project Status	Casq2

Sequences

Length	Strain/Species
genomic	OTTMUSG00000031087	VEGA Gene Model | MGI Sequence Detail	60100	C57BL/6J
transcript	OTTMUST00000092130	VEGA | MGI Sequence Detail	2434	Not Applicable
polypeptide	OTTMUSP00000050846	VEGA | MGI Sequence Detail	418	Not Applicable

All sequences(37) RefSeq(2) UniProt(4)

Polymorphisms

SNPs(450 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR001393	Calsequestrin
InterPro	IPR018233	Calsequestrin, conserved site
InterPro	IPR012336	Thioredoxin-like fold
Protein Ontology	PR:000005057	calsequestrin-2

References

(Earliest) J:46786 Jones LR, et al., Regulation of Ca2+ signaling in transgenic mouse cardiac myocytes overexpressing calsequestrin. J Clin Invest. 1998 Apr 1;101(7):1385-93
(Latest) J:186590 Faggioni M, et al., Calsequestrin 2 and arrhythmias. Am J Physiol Heart Circ Physiol. 2012 Mar 15;302(6):H1250-60
All references(58)

Other accession IDs

MGI:1334422, MGI:2139975