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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
  • 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) 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. Gene Ontology (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.

Additional gene information for CASQ2 Gene

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

Genomics for CASQ2 Gene

GeneHancer (GH) Regulatory Elements for CASQ2 Gene

Promoters and enhancers for CASQ2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J115765 Promoter/Enhancer 1.1 EPDnew ENCODE dbSUPER 670.9 +0.7 668 4.8 ZNF316 DACH1 MAFK CASQ2 VANGL1
GH01J115975 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 10.4 -208.7 -208675 3.8 PKNOX1 SIN3A YY1 ZNF766 ZNF213 SP3 REST ZSCAN16 HMBOX1 SETDB1 SLC22A15 LOC101928977 ATP1A1-AS1 ENSG00000237993 CASQ2 MAB21L3 IGSF3 ATP1A1
GH01J115771 Enhancer 1.2 Ensembl ENCODE dbSUPER 14.7 -3.1 -3065 1.5 ELF3 PKNOX1 RB1 KLF14 ZNF2 RAD21 RFX5 ZNF335 ZNF143 RCOR1 CASQ2 ENSG00000207502 ENSG00000237993 GC01P115827
GH01J115646 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 10.2 +119.9 119872 5.5 HDGF ATF1 PKNOX1 FEZF1 IRF4 BRCA1 ZNF766 GLIS2 ATF7 FOS VANGL1 ENSG00000207502 CASQ2
GH01J115729 Enhancer 0.6 ENCODE 23.8 +38.8 38802 1 JUNB BATF IRF4 ZBTB40 GATA3 EED IKZF1 IKZF2 SPI1 CASQ2 VANGL1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CASQ2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CASQ2 gene promoter:

Genomic Locations for CASQ2 Gene

Genomic Locations for CASQ2 Gene
chr1:115,700,003-115,768,805
(GRCh38/hg38)
Size:
68,803 bases
Orientation:
Minus strand
chr1:116,242,624-116,311,426
(GRCh37/hg19)

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

Post-translational modifications for CASQ2 Gene

Other Protein References for CASQ2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CASQ2 Gene

Domains & Families for CASQ2 Gene

Gene Families for CASQ2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted secreted proteins

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

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.
GENATLAS Biochemistry:
calsequestrin 2,44kDa,fast twitch,cardiac muscle (calcium storage protein in terminal cisternae os sarcoplasmic reticulum)

Phenotypes From GWAS Catalog for CASQ2 Gene

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:0046872 metal ion binding IEA --
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

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

Clone Products

No data available for Enzyme Numbers (IUBMB) , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CASQ2 gene
Compartment Confidence
endoplasmic reticulum 5
cytosol 3
mitochondrion 2
plasma membrane 1
extracellular 1
peroxisome 1
golgi apparatus 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

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CASQ2 Gene

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

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 IEA,ISS --
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

(5) Drugs for CASQ2 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Approved Nutra 0
Calcium Citrate Approved Pharma Target, ligand 0
Calcium Phosphate Approved Pharma Target, ligand 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

(78) Selected AceView cDNA sequences:
(8) Additional mRNA sequences :
(1) REFSEQ mRNAs :
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for CASQ2 Gene

Calsequestrin 2 (cardiac muscle):
Representative Sequences:

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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 and MOPED for CASQ2 Gene



Protein tissue co-expression partners for CASQ2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CASQ2 Gene:

CASQ2

SOURCE GeneReport for Unigene cluster for CASQ2 Gene:

Hs.57975

Evidence on tissue expression from TISSUES for CASQ2 Gene

  • Heart(4.9)
  • Muscle(4.7)
  • Nervous system(4.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CASQ2 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • cardiovascular
  • nervous
  • skeletal muscle
Regions:
Head and neck:
  • brain
  • ear
  • head
Thorax:
  • heart
  • heart valve
Limb:
  • lower limb
  • upper limb
General:
  • blood
  • blood vessel
  • red blood cell
genes like me logo Genes that share expression patterns 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 34 33
  • 99.55 (n)
OneToOne
dog
(Canis familiaris)
Mammalia CASQ2 34 33
  • 91.04 (n)
OneToOne
cow
(Bos Taurus)
Mammalia CASQ2 34 33
  • 90.86 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Casq2 33
  • 87.19 (n)
mouse
(Mus musculus)
Mammalia Casq2 16 34 33
  • 86.56 (n)
oppossum
(Monodelphis domestica)
Mammalia CASQ2 34
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 76 (a)
OneToMany
-- 34
  • 75 (a)
OneToMany
chicken
(Gallus gallus)
Aves CASQ2 34 33
  • 78.85 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CASQ2 34
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia MGC76326 33 33
  • 69.95 (n)
African clawed frog
(Xenopus laevis)
Amphibia LOC398424 33
zebrafish
(Danio rerio)
Actinopterygii casq2 34 33
  • 70.84 (n)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.6745 33
worm
(Caenorhabditis elegans)
Secernentea csq-1 34
  • 28 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 43 (a)
OneToMany
Cin.10261 33
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.10261 33
Species where no ortholog for CASQ2 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for CASQ2: view image

Paralogs for CASQ2 Gene

Paralogs for CASQ2 Gene

(1) SIMAP similar genes for CASQ2 Gene using alignment to 3 proteins:

  • CASQ2_HUMAN
  • B4DIB0_HUMAN
  • L8EC86_HUMAN
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 Variation AA Info Type
rs1060502164 likely-pathogenic, Catecholaminergic polymorphic ventricular tachycardia 115,744,914(-) T/C splice_acceptor_variant
rs1060502165 uncertain-significance, Catecholaminergic polymorphic ventricular tachycardia 115,738,310(-) A/C coding_sequence_variant, missense_variant
rs1060504495 likely-benign, Catecholaminergic polymorphic ventricular tachycardia 115,732,894(-) T/A intron_variant
rs10801999 benign, conflicting-interpretations-of-pathogenicity, not specified, Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 115,768,316(-) C/T coding_sequence_variant, missense_variant
rs11347859 likely-benign, uncertain-significance, Neural tube defect, Caudal dysgenesis syndrome, Catecholaminergic polymorphic ventricular tachycardia 115,700,224(-) TTTTTTTTTTTTT/TTTTTTTTTTTT/TTTTTTTTTTTTTT 3_prime_UTR_variant

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

Variant ID Type Subtype PubMed ID
esv2458208 CNV insertion 19546169
esv2760632 CNV gain 21179565
esv27976 CNV loss 19812545
esv3430953 CNV insertion 20981092
esv3587292 CNV loss 21293372
nsv1000760 CNV gain 25217958
nsv1116608 CNV tandem duplication 24896259
nsv508559 CNV deletion 20534489
nsv524619 CNV gain 19592680
nsv547585 CNV gain 21841781
nsv831115 CNV gain 17160897

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)

Additional Variant Information for CASQ2 Gene

Human Gene Mutation Database (HGMD)
CASQ2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CASQ2

SNP Genotyping and Copy Number Assay Products

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

Disorders for CASQ2 Gene

MalaCards: The human disease database

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

- 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. CPVT2 inheritance is autosomal recessive. {ECO:0000269 PubMed:11704930, ECO:0000269 PubMed:15485681, ECO:0000269 PubMed:16908766, ECO:0000269 PubMed:17881003, ECO:0000269 PubMed:18399795, ECO:0000269 PubMed:27157848}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for CASQ2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 CH … Lee EJ (Forensic science international 2009) 3 22 44 58
  2. Clinical phenotype and functional characterization of CASQ2 mutations associated with catecholaminergic polymorphic ventricular tachycardia. (PMID: 16908766) di Barletta MR … Priori SG (Circulation 2006) 3 4 22 58
  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. (PMID: 14571276) Laitinen PJ … Kontula K (European journal of human genetics : EJHG 2003) 3 4 22 58
  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. (PMID: 11704930) Lahat H … Eldar M (American journal of human genetics 2001) 3 4 22 58
  5. Chromosome mapping of five human cardiac and skeletal muscle sarcoplasmic reticulum protein genes. (PMID: 8406504) Otsu K … MacLennan DH (Genomics 1993) 2 3 22 58

Products for CASQ2 Gene

Sources for CASQ2 Gene

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