About   Help   FAQ
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 western clawed frog; 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; chr1:115700003-115768805 (-)  GRCh38
Disease Associations  (2) Diseases Associated with Human CASQ2
Mutations,
alleles, and
phenotypes
All mutations/alleles(10) : Gene trapped(2) Targeted(8)
Incidental mutations (data from Mutagenetix , APF )
 
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)
Interactions
Casq2 interacts with 128 markers (Mir18, Mir18b, Mir26a-1, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (35 annotations)
Process cardiac muscle contraction, cellular response to caffeine, ...
Component cytoplasm, intracellular, ...
Function calcium-dependent protein binding, calcium ion binding, ...
External Resources: FuncBase
Expression
Literature Summary: (12 records)
Data Summary: Results (47)    Tissues (34)    Images (7)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 24
Western blot 8
RT-PCR 15
cDNA source data(91)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(95) cDNA(91) Primer pair(4)
Microarray probesets(3)
Other database
links
VEGA Gene ModelOTTMUSG00000031087 (Evidence)
Ensembl Gene ModelENSMUSG00000027861 (Evidence)
Entrez Gene12373 (Evidence)
UniGene15343
DFCITC1577489
DoTSDT.533359
NIA Mouse Gene IndexU003645
Consensus CDS ProjectCCDS51023.1
International Mouse Knockout Project StatusCasq2
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000031087 VEGA Gene Model | MGI Sequence Detail 60100 C57BL/6J ±  kb
transcript OTTMUST00000092130 VEGA | MGI Sequence Detail 2434 Not Applicable 
polypeptide OTTMUSP00000050846 VEGA | MGI Sequence Detail 418 Not Applicable 

For the selected sequences
All sequences(42) RefSeq(4) UniProt(7)
Polymorphisms
SNPs within 2kb(585 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
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:211475 Valle G, et al., Post-natal heart adaptation in a knock-in mouse model of calsequestrin 2-linked recessive catecholaminergic polymorphic ventricular tachycardia. Exp Cell Res. 2014 Feb 15;321(2):178-89
All references(69)
Disease annotation references (4)
Other
accession IDs
MGI:1334422, MGI:2139975

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
12/09/2014
MGI 5.20
The Jackson Laboratory