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Aliases for CASQ2 Gene

Aliases for CASQ2 Gene

  • Calsequestrin 2 2 3 5
  • Calsequestrin, Cardiac Muscle Isoform 3 4
  • Calsequestrin 2 (Cardiac Muscle) 2 3
  • Calsequestrin 2, Fast-Twitch, Cardiac Muscle 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) 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 calcium-dependent protein binding. 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

Enhancers for CASQ2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around CASQ2 on UCSC Golden Path with GeneCards custom track

Promoters for CASQ2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around CASQ2 on UCSC Golden Path with GeneCards custom track

Genomic Location for CASQ2 Gene

Chromosome:
1
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

Genes around CASQ2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CASQ2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for CASQ2 Gene

Domains & Families for CASQ2 Gene

Gene Families for CASQ2 Gene

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 :
  • Belongs to the calsequestrin family.
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.
genes like me logo Genes that share phenotypes with CASQ2: view

Human Phenotype Ontology for CASQ2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CASQ2 Gene

MGI Knock Outs for CASQ2:

Animal Model Products

miRNA for CASQ2 Gene

miRTarBase miRNAs that target CASQ2

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets 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
peroxisome 1

Gene Ontology (GO) - Cellular Components for CASQ2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005891 colocalizes_with voltage-gated calcium channel complex ISS --
GO:0016529 sarcoplasmic reticulum ISS --
GO:0033017 sarcoplasmic reticulum membrane TAS --
genes like me logo Genes that share ontologies with CASQ2: view

Pathways & Interactions 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: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 IEA,ISS --
GO:0010881 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion IEA,IMP 16601229
genes like me logo Genes that share ontologies with CASQ2: view

No data available for SIGNOR curated interactions for CASQ2 Gene

Drugs & Compounds for CASQ2 Gene

(3) Drugs for CASQ2 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Nutra 0

(1) Additional Compounds for CASQ2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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 (x19.6), Heart - Atrial Appendage (x12.1), and Artery - Tibial (x4.2).

Protein differential expression in normal tissues from HIPED for CASQ2 Gene

This gene is overexpressed in Heart (32.6), Fetal heart (16.9), Tonsil (8.9), and Oral epithelium (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for CASQ2 Gene



SOURCE GeneReport for Unigene cluster for CASQ2 Gene Hs.57975

genes like me logo Genes that share expression patterns with CASQ2: view

Protein tissue co-expression partners for CASQ2 Gene

- Elite partner

Primer Products

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
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
chimpanzee
(Pan troglodytes)
Mammalia CASQ2 35
  • 99.55 (n)
  • 99.73 (a)
CASQ2 36
  • 97 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Casq2 35
  • 87.19 (n)
  • 91.94 (a)
oppossum
(Monodelphis domestica)
Mammalia CASQ2 36
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 75 (a)
OneToMany
-- 36
  • 76 (a)
OneToMany
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
tropical clawed frog
(Silurana tropicalis)
Amphibia MGC76326 35
MGC76326 35
  • 69.95 (n)
  • 70.7 (a)
African clawed frog
(Xenopus laevis)
Amphibia LOC398424 35
zebrafish
(Danio rerio)
Actinopterygii casq2 35
  • 70.84 (n)
  • 70.3 (a)
casq2 36
  • 67 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.6745 35
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

(1) 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
VAR_016075 Ventricular tachycardia, catecholaminergic polymorphic, 2 (CPVT2)
rs4074536 - 115,768,346(+) TTGCG(C/T)GACCT reference, missense
rs10801999 - 115,768,316(+) AAGCA(C/T)GATTT reference, missense
VAR_044118 Ventricular tachycardia, catecholaminergic polymorphic, 2 (CPVT2)
VAR_055234 Ventricular tachycardia, catecholaminergic polymorphic, 2 (CPVT2)

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

Variation tolerance for CASQ2 Gene

Residual Variation Intolerance Score: 24.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.92; 67.78% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CASQ2 Gene

Human Gene Mutation Database (HGMD)
CASQ2

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

Disorders for CASQ2 Gene

MalaCards: The human disease database

(8) MalaCards diseases for CASQ2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
ventricular tachycardia, catecholaminergic polymorphic, 2
  • ventricular tachycardia, catecholaminergic polymorphic, 1
catecholaminergic polymorphic ventricular tachycardia
  • ventricular tachycardia, catecholaminergic polymorphic, 1
casq2-related catecholaminergic polymorphic ventricular tachycardia
cardiac arrest
  • cardiopulmonary arrest
myopathy, tubular aggregate, 1
  • tubular aggregate myopathy
- elite association - COSMIC cancer census association via MalaCards
Search CASQ2 in MalaCards View complete list of genes associated with diseases

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.

Relevant External Links for CASQ2

Genetic Association Database (GAD)
CASQ2
Human Genome Epidemiology (HuGE) Navigator
CASQ2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CASQ2
genes like me logo Genes that share disorders with CASQ2: view

No data available for Genatlas for CASQ2 Gene

Publications for CASQ2 Gene

  1. 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 67
  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 Novel mutation of F189L in CASQ2 in families with catecholaminergic polymorphic ventricular tachycardia]. (PMID: 18543230) Liu Q.Q. … Wang Q.K. (Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2008) 3 23
  4. Calsequestrin mutation and catecholaminergic polymorphic ventricular tachycardia: a simulation study of cellular mechanism. (PMID: 17531962) Faber G.M. … Rudy Y. (Cardiovasc. Res. 2007) 3 23
  5. Calsequestrin 2 (CASQ2) mutations increase expression of calreticulin and ryanodine receptors, causing catecholaminergic polymorphic ventricular tachycardia. (PMID: 17607358) Song L. … Seidman J.G. (J. Clin. Invest. 2007) 3 23

Products for CASQ2 Gene

Sources for CASQ2 Gene

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