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Aliases for CASQ2 Gene

Aliases for CASQ2 Gene

  • Calsequestrin 2 (Cardiac Muscle) 2 3
  • Calsequestrin, Cardiac Muscle Isoform 3 4
  • Calsequestrin 2, Fast-Twitch, Cardiac Muscle 3
  • Calsequestrin-2 3
  • PDIB2 3

External Ids for CASQ2 Gene

Previous GeneCards Identifiers for CASQ2 Gene

  • GC01M116655
  • GC01M115124
  • GC01M115390
  • GC01M115589
  • GC01M115954
  • GC01M116044
  • GC01M116242
  • GC01M114100

Summaries for CASQ2 Gene

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 ventricular tachycardia, catecholaminergic polymorphic, 2 and catecholaminergic polymorphic ventricular tachycardia. Among its related pathways are Myometrial Relaxation and Contraction Pathways and Antiarrhythmic Pathway, Pharmacodynamics. GO annotations related to this gene include calcium ion binding and protein homodimerization activity. An important paralog of this gene is CASQ1.

UniProtKB/Swiss-Prot for CASQ2 Gene

  • Calsequestrin is a high-capacity, moderate affinity, calcium-binding protein and thus acts as an internal calcium store in muscle. Calcium ions are bound by clusters of acidic residues at the protein surface, especially at the interface between subunits. Can bind around 60 Ca(2+) ions. Regulates the release of lumenal Ca(2+) via the calcium release channel RYR2; this plays an important role in triggering muscle contraction. Plays a role in excitation-contraction coupling in the heart and in regulating the rate of heart beats.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CASQ2 Gene

Genomics for CASQ2 Gene

Regulatory Elements for CASQ2 Gene

Genomic Location for CASQ2 Gene

Start:
115,700,003 bp from pter
End:
115,768,805 bp from pter
Size:
68,803 bases
Orientation:
Minus strand

Genomic View for CASQ2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CASQ2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CASQ2 Gene

Proteins for CASQ2 Gene

  • Protein details for CASQ2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O14958-CASQ2_HUMAN
    Recommended name:
    Calsequestrin-2
    Protein Accession:
    O14958
    Secondary Accessions:
    • B2R7M6
    • B4DIB0
    • Q5T1D2
    • Q8TBW8

    Protein attributes for CASQ2 Gene

    Size:
    399 amino acids
    Molecular mass:
    46436 Da
    Quaternary structure:
    • 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. Interacts with ASPH and TRDN.

    Three dimensional structures from OCA and Proteopedia for CASQ2 Gene

    Alternative splice isoforms for CASQ2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CASQ2 Gene

Proteomics data for CASQ2 Gene at MOPED

Post-translational modifications for CASQ2 Gene

Other Protein References for CASQ2 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for CASQ2 Gene

Domains for CASQ2 Gene

Gene Families for CASQ2 Gene

HGNC:
  • PDI :Protein disulfide isomerases

Protein Domains for CASQ2 Gene

Suggested Antigen Peptide Sequences for CASQ2 Gene

Graphical View of Domain Structure for InterPro Entry

O14958

UniProtKB/Swiss-Prot:

CASQ2_HUMAN :
  • O14958
Family:
  • Belongs to the calsequestrin family.
genes like me logo Genes that share domains with CASQ2: view

Function for CASQ2 Gene

Molecular function for CASQ2 Gene

GENATLAS Biochemistry: calsequestrin 2,44kDa,fast twitch,cardiac muscle (calcium storage protein in terminal cisternae os sarcoplasmic reticulum)
UniProtKB/Swiss-Prot Function: Calsequestrin is a high-capacity, moderate affinity, calcium-binding protein and thus acts as an internal calcium store in muscle. Calcium ions are bound by clusters of acidic residues at the protein surface, especially at the interface between subunits. Can bind around 60 Ca(2+) ions. Regulates the release of lumenal Ca(2+) via the calcium release channel RYR2; this plays an important role in triggering muscle contraction. Plays a role in excitation-contraction coupling in the heart and in regulating the rate of heart beats.

Gene Ontology (GO) - Molecular Function for CASQ2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IDA 16601229
GO:0005515 protein binding IPI 22123818
GO:0042803 protein homodimerization activity ISS --
GO:0048306 calcium-dependent protein binding IDA 15485681
genes like me logo Genes that share ontologies with CASQ2: view
genes like me logo Genes that share phenotypes with CASQ2: view

Animal Models for CASQ2 Gene

MGI Knock Outs for CASQ2:

miRNA for CASQ2 Gene

miRTarBase miRNAs that target CASQ2

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for CASQ2 Gene

Localization for CASQ2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CASQ2 Gene

Sarcoplasmic reticulum lumen. Note=This isoform of calsequestrin occurs in the sarcoplasmic reticulums terminal cisternae luminal spaces of cardiac and slow skeletal muscle cells. {ECO:0000250 UniProtKB:O09161}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CASQ2 Gene COMPARTMENTS Subcellular localization image for CASQ2 gene
Compartment Confidence
endoplasmic reticulum 5
cytosol 3
mitochondrion 2
plasma membrane 2
cytoskeleton 1
extracellular 1
golgi apparatus 1
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for CASQ2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IMP 16908766
GO:0005737 cytoplasm IDA 22123818
GO:0005891 colocalizes_with voltage-gated calcium channel complex ISS --
GO:0014701 junctional sarcoplasmic reticulum membrane TAS 17569730
GO:0016529 sarcoplasmic reticulum ISS --
genes like me logo Genes that share ontologies with CASQ2: view

Pathways for CASQ2 Gene

genes like me logo Genes that share pathways with CASQ2: view

Pathways by source for CASQ2 Gene

1 BioSystems pathway for CASQ2 Gene
1 PharmGKB pathway for CASQ2 Gene

Interacting Proteins for CASQ2 Gene

Gene Ontology (GO) - Biological Process for CASQ2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002027 regulation of heart rate IMP 15485681
GO:0005513 detection of calcium ion TAS 22123818
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 --
genes like me logo Genes that share ontologies with CASQ2: view

Compounds for CASQ2 Gene

(1) HMDB Compounds for CASQ2 Gene

Compound Synonyms Cas Number PubMed IDs
Calcium
  • Ca
7440-70-2

(4) Novoseek inferred chemical compound relationships for CASQ2 Gene

Compound -log(P) Hits PubMed IDs
ryanodine 80.1 14
calcium 50.5 23
histidine 30.5 2
aspartate 24.3 2
genes like me logo Genes that share compounds with CASQ2: view

Transcripts for CASQ2 Gene

mRNA/cDNA for CASQ2 Gene

Unigene Clusters for CASQ2 Gene

Calsequestrin 2 (cardiac muscle):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CASQ2 Gene

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

Relevant External Links for CASQ2 Gene

GeneLoc Exon Structure for
CASQ2
ECgene alternative splicing isoforms for
CASQ2

Expression for CASQ2 Gene

mRNA expression in normal human tissues for CASQ2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CASQ2 Gene

This gene is overexpressed in Heart - Left Ventricle (19.6), Heart - Atrial Appendage (12.1), and Artery - Tibial (4.2).

Integrated Proteomics: protein expression from ProteomicsDB and MOPED for CASQ2 Gene

SOURCE GeneReport for Unigene cluster for CASQ2 Gene Hs.57975

genes like me logo Genes that share expressions with CASQ2: view

No data available for mRNA Expression by UniProt/SwissProt for CASQ2 Gene

Orthologs for CASQ2 Gene

This gene was present in the common ancestor of animals.

Orthologs for CASQ2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CASQ2 35
  • 99.55 (n)
  • 99.73 (a)
CASQ2 36
  • 97 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CASQ2 35
  • 90.86 (n)
  • 95.16 (a)
CASQ2 36
  • 86 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CASQ2 35
  • 91.04 (n)
  • 95.16 (a)
CASQ2 36
  • 73 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Casq2 35
  • 86.56 (n)
  • 90.86 (a)
Casq2 16
Casq2 36
  • 86 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CASQ2 36
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 75 (a)
OneToMany
-- 36
  • 76 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Casq2 35
  • 87.19 (n)
  • 91.94 (a)
chicken
(Gallus gallus)
Aves CASQ2 35
  • 78.85 (n)
  • 80.65 (a)
CASQ2 36
  • 78 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CASQ2 36
  • 75 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia LOC398424 35
tropical clawed frog
(Silurana tropicalis)
Amphibia MGC76326 35
MGC76326 35
  • 69.95 (n)
  • 70.7 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.6745 35
zebrafish
(Danio rerio)
Actinopterygii casq2 35
  • 70.84 (n)
  • 70.3 (a)
casq2 36
  • 67 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea csq-1 36
  • 28 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.10261 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 43 (a)
OneToMany
Species with no ortholog for CASQ2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CASQ2 Gene

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

Paralogs for CASQ2 Gene

Paralogs for CASQ2 Gene

Selected SIMAP similar genes for CASQ2 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with CASQ2: view

Variants for CASQ2 Gene

Sequence variations from dbSNP and Humsavar for CASQ2 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs1129960 -- 115,768,555(-) GAAAC(A/C)AAAGT utr-variant-5-prime
rs1140238 -- 115,700,609(-) AGAGG(C/G)CTTGA utr-variant-3-prime
rs2997741 -- 115,717,911(+) AAGTA(A/C/T)CAAAA intron-variant
rs2997742 -- 115,717,983(+) AATGG(A/G)AATAG intron-variant
rs2997745 -- 115,728,426(+) GGAGA(C/T)GTGGA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CASQ2 Gene

Variant ID Type Subtype PubMed ID
essv18166 CNV CNV 17122850
esv27976 CNV Loss 19812545
nsv831115 CNV Gain 17160897
nsv524619 CNV Gain 19592680
nsv508559 CNV Loss 20534489
esv2458208 CNV Insertion 19546169

Relevant External Links for CASQ2 Gene

HapMap Linkage Disequilibrium report
CASQ2
Human Gene Mutation Database (HGMD)
CASQ2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CASQ2 Gene

Disorders for CASQ2 Gene

(1) OMIM Diseases for CASQ2 Gene (114251)

UniProtKB/Swiss-Prot

CASQ2_HUMAN
  • 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. {ECO:0000269 PubMed:11704930, ECO:0000269 PubMed:16908766, ECO:0000269 PubMed:18399795}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(4) University of Copenhagen DISEASES for CASQ2 Gene

(6) Novoseek inferred disease relationships for CASQ2 Gene

Disease -log(P) Hits PubMed IDs
ventricular tachycardia, catecholaminergic polymorphic 97.5 14
tachycardia ventricular 75.8 4
emotional stress 73.1 1
death sudden 67.1 2
ventricular arrhythmia 65.6 3

Relevant External Links for CASQ2

GeneTests
CASQ2
GeneReviews
CASQ2
Genetic Association Database (GAD)
CASQ2
Human Genome Epidemiology (HuGE) Navigator
CASQ2
genes like me logo Genes that share disorders with CASQ2: view

Publications for CASQ2 Gene

  1. Molecular genetics of exercise-induced polymorphic ventricular tachycardia: identification of three novel cardiac ryanodine receptor mutations and two common calsequestrin 2 amino-acid polymorphisms. (PMID: 14571276) Laitinen P.J. … Kontula K. (Eur. J. Hum. Genet. 2003) 3 4 23
  2. Chromosome mapping of five human cardiac and skeletal muscle sarcoplasmic reticulum protein genes. (PMID: 8406504) Otsu K. … MacLennan D.H. (Genomics 1993) 2 3 23
  3. 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. (PMID: 11704930) Lahat H. … Eldar M. (Am. J. Hum. Genet. 2001) 3 4 23
  4. Genetic variability of RyR2 and CASQ2 genes in an Asian population. (PMID: 19709828) Wong C.H. … Lee E.J. (Forensic Sci. Int. 2009) 3 23 48
  5. Clinical phenotype and functional characterization of CASQ2 mutations associated with catecholaminergic polymorphic ventricular tachycardia. (PMID: 16908766) di Barletta M.R. … Priori S.G. (Circulation 2006) 3 4 23

Products for CASQ2 Gene

Sources for CASQ2 Gene

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