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CASQ2 Gene

protein-coding   GIFtS: 65
GCID: GC01M116242

Calsequestrin 2 (Cardiac Muscle)

  See CASQ2-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Calsequestrin 2 (Cardiac Muscle)1 2
Calsequestrin, Cardiac Muscle Isoform2 3
PDIB22
Calsequestrin 2, Fast-Twitch, Cardiac Muscle2
calsequestrin-22

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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for CASQ2 Gene:
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)

GeneCards Summary for CASQ2 Gene:
CASQ2 (calsequestrin 2 (cardiac muscle)) is a protein-coding gene. Diseases associated with CASQ2 include catecholaminergic polymorphic ventricular tachycardia, and ventricular tachycardia, catecholaminergic polymorphic, 2. GO annotations related to this gene include protein homodimerization activity and calcium ion binding. An important paralog of this gene is CASQ1.

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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000001.10  NC_018912.2  NT_032977.10  
Regulatory elements:
   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 plasmidCASQ2 promoter sequence
   Search Chromatin IP Primers for CASQ2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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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
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

Explore proteomics data for CASQ2 at MOPED

Post-translational modifications: 

  • Phosphorylation in the C-terminus, probably by CK2, moderately increases calcium buffering capacity1
  • Glycosylation2 at Asn335
  • Modification sites at PhosphoSitePlus

  • See CASQ2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001223.2  
    ENSEMBL proteins: 
     ENSP00000261448   ENSP00000403858  
    Reactome Protein details: O14958

    CASQ2 Human Recombinant Protein Products:

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    Novus Biologicals CASQ2 Proteins
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    Cloud-Clone Corp. Proteins for CASQ2

     
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    PDI: Protein disulfide isomerases

    3 InterPro protein domains:
     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 domain: IPB001393 Calsequestrin

    UniProtKB/Swiss-Prot: CASQ2_HUMAN, O14958
    Similarity: Belongs to the calsequestrin family


    Find genes that share domains with CASQ2           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005509calcium ion binding IDA16601229
    GO:0005515protein binding IPI--
    GO:0042803protein homodimerization activity ISS--
         
    Find genes that share ontologies with CASQ2           About GenesLikeMe


    Phenotypes:
         3 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Casq2):
     cardiovascular system  homeostasis/metabolism  muscle 

    Find genes that share phenotypes with CASQ2           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for CASQ2: Casq2tm1Klmn Casq2tm2Jse

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CASQ2
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for CASQ2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CASQ2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CASQ2

    miRNA
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    miRTarBase miRNAs that target CASQ2:
    hsa-mir-128-3p (MIRT021966)

    Block miRNA regulation of human, mouse, rat CASQ2 using miScript Target Protectors
    8 qRT-PCR 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 plasmidCASQ2 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat CASQ2

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    Sino Biological Human cDNA Clone for CASQ2
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    CASQ2_HUMAN, O14958: 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
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    cytosol3
    mitochondrion2
    plasma membrane2
    cytoskeleton1
    extracellular1
    golgi apparatus1
    nucleus1
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular IMP16908766
    GO:0005737cytoplasm IDA--
    GO:0005891colocalizes with voltage-gated calcium channel complex ISS--
    GO:0014701junctional sarcoplasmic reticulum membrane TAS17569730
    GO:0016529sarcoplasmic reticulum ISS--

    Find genes that share ontologies with CASQ2           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for CASQ2 About    
    See pathways by source

    SuperPathContained pathways About
    1Myometrial Relaxation and Contraction Pathways
    Calcium Regulation in the Cardiac Cell0.43
    2Antiarrhythmic Pathway, Pharmacodynamics
    Antiarrhythmic Pathway, Pharmacodynamics


    Find genes that share SuperPaths with CASQ2           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for CASQ2
        Calcium Regulation in the Cardiac Cell


    1 Reactome Pathway for CASQ2
        Stimuli-sensing channels

    1 PharmGKB Pathway for CASQ2
        Antiarrhythmic Pathway, Pharmacodynamics

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for CASQ2
    Interactions:

        GeneGlobe Interaction Network for CASQ2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 8)

    Selected Interacting proteins for CASQ2 (O149583 ENSP000002614484) via UniProtKB, MINT, STRING, and/or I2D (see all 13)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ANKRD1Q153273, ENSP000003607624I2D: score=1 STRING: ENSP00000360762
    CSNK2A2P197843, ENSP000002625064I2D: score=1 STRING: ENSP00000262506
    CSNK2A1P684003, ENSP000002172444I2D: score=1 STRING: ENSP00000217244
    TRDNQ130613I2D: score=2 
    PRKCBP057713I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 17):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002027regulation of heart rate IMP16601229
    GO:0005513detection of calcium ion TAS--
    GO:0006941striated muscle contraction TAS9795116
    GO:0010649regulation of cell communication by electrical coupling IMP16908766
    GO:0010880regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum ISS--

    Find genes that share ontologies with CASQ2           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for CASQ2

    1 HMDB Compound for CASQ2    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--

    4 Novoseek inferred 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)



    Find genes that share compounds with CASQ2           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000261448(uc001efx.4 uc010owu.2) ENST00000488931 ENST00000456138

    miRNA
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    8 qRT-PCR 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 plasmidCASQ2 3' UTR sequence
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    Additional mRNA 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 

    Selected AceView cDNA sequences (see all 78):

    BM679349 AI243323 AI055944 F30464 AW590420 BF725765 AK129831 BF574681 
    F36930 AI932721 CF551835 W68692 BX105738 BM728960 AW135354 BC022288 
    AI186951 AI804878 CD610940 AK129891 BM667692 CF552276 AL600123 AW075319 

    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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    CASQ2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGTAAGACAC
    CASQ2 Expression
    About this image


    CASQ2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 9) fully expand
     
     Testis (Reproductive System)    fully expand to see all 2 entries
             Testicular Interstitial Cells Testis Interstitium
             Seminiferous Tubules
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Endothelial Cells Blood Brain Barrier
             Cerebellum
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 2 entries
             Mononuclear Myocytes Hyoid Arch Muscles
     
     Inner Cell Mass (Early Embryonic Tissues)
             Blimp1- mVenus and stella-ECFP genetically modified stem cells
     
     Neural Tube (Nervous System)
             Floor plate-like cells
    CASQ2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CASQ2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.57975
        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)
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    This gene was present in the common ancestor of animals.

    Orthologs for CASQ2 gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Casq21 , 5 calsequestrin 21, 5 86.56(n)1
    90.86(a)1
      3 (44.30 cM)5
    123731  NM_009814.31  NP_033944.21 
     1020864155 
    chicken
    (Gallus gallus)
    Aves CASQ21 calsequestrin 2 (cardiac muscle) 78.85(n)
    80.65(a)
      395198  NM_204526.1  NP_989857.1 
    lizard
    (Anolis carolinensis)
    Reptilia CASQ26
    calsequestrin 2 (cardiac muscle)
    75(a)
    1 ↔ 1
    2(82835526-82896091)
    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 70.84(n)
    70.3(a)
      114410  NM_001002682.1  NP_001002682.1 
    worm
    (Caenorhabditis elegans)
    Secernentea csq-16
    Protein CSQ-1 (csq-1) mRNA, complete cds
    28(a)
    1 → many
    X(14684877-14688365) WBGene00000822


    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)
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    Paralogs for CASQ2 gene
    CASQ12  
    1 SIMAP similar gene for CASQ2 using alignment to 3 protein entries:     CASQ2_HUMAN (see all proteins):
    CASQ1

    Find genes that share paralogs with CASQ2           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for CASQ2 (see all 1834)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0441184
    Ventricular tachycardia, catecholaminergic polymorphic, 2 (CPVT2)4--see VAR_0441182 L H mis40--------
    VAR_0160754
    Ventricular tachycardia, catecholaminergic polymorphic, 2 (CPVT2)4--see VAR_0160752 D H mis40--------
    VAR_0552344
    Ventricular tachycardia, catecholaminergic polymorphic, 2 (CPVT2)4--see VAR_0552342 R Q mis40--------
    rs287307161,2,,4
    C,Fprobable-pathogenic1116338294(-) GGAACA/GCCAAA 2 H R mis1 ese35Minor allele frequency- G:0.03NS WA NA EU 5951
    rs75290161,2
    C,F--114144422(+) tttttC/Ttctgt 1 -- int1 trp31Minor allele frequency- T:0.00CSA 1
    rs346886021,2
    C--114146881(+) TTTTT-/TATTGC 1 -- int10--------
    rs113478591,2
    C--116242845(+) TGGGAT/-TTTTT 1 -- ut31 trp32Minor allele frequency- -:0.25NA CSA 4
    rs569278601,2
    C--116244550(+) TTTTTT/-GAGAT 1 -- int11Minor allele frequency- -:0.50CSA 2
    rs113253571,2
    C,F--116246533(+) GTCTC-/AAAAAA 1 -- int1 trp33Minor allele frequency- A:0.33NA CSA 6
    rs113499821,2
    C,F--116251814(+) TTCAAT/-TTTTT 1 -- int13Minor allele frequency- -:0.50NA CSA 6

    HapMap Linkage Disequilibrium report for CASQ2 (116242624 - 116311426 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for CASQ2:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2458208CNV Insertion19546169
    esv27976CNV Loss19812545
    nsv508559CNV Loss20534489
    nsv831115CNV Gain17160897
    nsv524619CNV Gain19592680
    essv18166CNV CNV17122850

    Human Gene Mutation Database (HGMD): CASQ2
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CASQ2
    DNA2.0 Custom Variant and Variant Library Synthesis for CASQ2

    (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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    OMIM gene information: 114251   
    OMIM disorders: 611938  
    UniProtKB/Swiss-Prot: CASQ2_HUMAN, O14958
  • Ventricular tachycardia, catecholaminergic polymorphic, 2 (CPVT2) [MIM:611938]: An arrhythmogenic
    disorder characterized by stress-induced, bidirectional ventricular tachycardia that may degenerate into cardiac
    arrest and cause sudden death. Patients present with recurrent syncope, seizures, or sudden death after physical
    activity or emotional stress. Note=The disease is caused by mutations affecting the gene represented in this
    entry

  • 4 diseases for CASQ2:    
    About MalaCards
    catecholaminergic polymorphic ventricular tachycardia    ventricular tachycardia, catecholaminergic polymorphic, 2    casq2-related catecholaminergic polymorphic ventricular tachycardia    gas gangrene

    4 diseases from the University of Copenhagen DISEASES database for CASQ2:
    Malignant hyperthermia     Heart disease     Myopathy     Gas gangrene

    Find genes that share disorders with CASQ2           About GenesLikeMe

    6 Novoseek inferred 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
    GeneReviews: CASQ2
    Genetic Association Database (GAD): CASQ2
    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 10 sources (see all 82):
    (articles sorted by number of sources associating them with CASQ2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Genetic variability of RyR2 and CASQ2 genes in an Asian population. (PubMed id 19709828)1, 4, 9 Wong C.H....Lee E.J. (Forensic Sci. Int. 2009)
    2. 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. (Circulation 2006)
    3. 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. (Eur. J. Hum. Genet. 2003)
    4. 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. (Am. J. Hum. Genet. 2001)
    5. Chromosome mapping of five human cardiac and skeletal muscle sarcoplasmic reticulum protein genes. (PubMed id 8406504)1, 3, 9 Otsu K....MacLennan D.H. (Genomics 1993)
    6. Phosphorylation of human calsequestrin: implications for calcium regulation. (PubMed id 21416293)1, 2 Sanchez E.J....Kang C. (Mol. Cell. Biochem. 2011)
    7. Common variants in 22 loci are associated with QRS duration and cardiac ventricular conduction. (PubMed id 21076409)1, 4 Sotoodehnia N....Arking D.E. (Nat. Genet. 2010)
    8. 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. (Biochem. J. 2008)
    9. Characterization of human cardiac calsequestrin and its deleterious mutants. (PubMed id 17881003)1, 2 Kim E....Kang C. (J. Mol. Biol. 2007)
    10. 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. (Genome Res. 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
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      Query String
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    OMIM
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      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (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, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for CASQ2 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=CASQ2[genesymbol]
    Wikipedia http://en.wikipedia.org/wiki/Calsequestrin

    (Patent information from GeneIP,
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    IP news from LifeMap Sciences, Inc.)
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    Patent Information for CASQ2 gene:
    Search GeneIP for patents involving CASQ2

    GeneCards and IP:
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