CASQ2 Gene (Protein Coding)

Calsequestrin 2

GC01M115700
GIFtS:
45
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 referre... See more...

Aliases for CASQ2 Gene

Aliases for CASQ2 Gene

  • Calsequestrin 2 2 3 5
  • Calsequestrin 2 (Cardiac Muscle) 2 3
  • Calsequestrin-2 3 4
  • PDIB2 2 3
  • Calsequestrin 2, Fast-Twitch, Cardiac Muscle 3
  • Calsequestrin, Cardiac Muscle Isoform 4
  • CASQ2 5

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 Antiarrhythmic Pathway, Pharmacodynamics and Calcium signaling pathway. 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 Summary 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 , Rfam classification and piRNA Summary for CASQ2 Gene

Genomics for CASQ2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
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 1.7 EPDnew Ensembl ENCODE dbSUPER 270.8 +1.3 1251 6.1 ZNF217 CTCF REST SMC3 RAD21 ZNF316 HNF4A ZNF3 NFIB MAFK CASQ2 HSALNG0006289 VANGL1
GH01J115975 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 10.4 -208.6 -208566 4.2 ZSCAN16 CEBPA SMAD5 ZNF217 BRCA1 BHLHE40 ELF1 CEBPB REST GABPA SLC22A15 LOC101928977 ATP1A1-AS1 ENSG00000237993 CASQ2 MAB21L3 IGSF3 ATP1A1 HSALNG0006300
GH01J116417 Promoter/Enhancer 2.1 Ensembl ENCODE CraniofacialAtlas dbSUPER 10.6 -649.8 -649785 2.2 CHD2 ZBTB10 BCL11A IKZF1 BRCA1 SMAD5 MBD2 ZNF217 POLR2A ZBTB7B CASQ2 CD58 ATP1A1-AS1 HSALNG0006328 ATP1A1
GH01J115713 Enhancer 1 Ensembl ENCODE 17 +55.3 55266 5.7 CEBPA FOXA1 ZNF217 ELF1 THAP11 CEBPB MBD2 CUX1 FOXA2 SMAD4 CASQ2 ENSG00000237993 HSALNG0006287 HE856257 VANGL1
GH01J115646 Promoter/Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 10.2 +119.8 119781 5.5 BCL11A FEZF1 IKZF1 BRCA1 ZIC2 SIN3A GTF2E2 TRIM22 IRF4 EP300 VANGL1 ENSG00000207502 CASQ2 HE856257
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CASQ2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CASQ2

Top Transcription factor binding sites by QIAGEN in the CASQ2 gene promoter:
  • aMEF-2
  • HOXA9
  • HOXA9B
  • HSF2
  • JunB
  • JunD
  • MEF-2A
  • Meis-1
  • Meis-1b
  • Olf-1

Genomic Locations for CASQ2 Gene

Latest Assembly
chr1:115,700,021-115,768,714
(GRCh38/hg38)
Size:
68,694 bases
Orientation:
Minus strand

Previous Assembly
chr1:116,242,642-116,311,335
(GRCh37/hg19 by Entrez Gene)
Size:
68,694 bases
Orientation:
Minus strand

chr1:116,242,628-116,311,402
(GRCh37/hg19 by Ensembl)
Size:
68,775 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 Structure • Gene Density

RefSeq DNA sequence for CASQ2 Gene

Proteins for CASQ2 Gene

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  • 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

Protein Expression for CASQ2 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

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 intracellular proteins

Protein Domains for CASQ2 Gene

InterPro:
Blocks:
  • Calsequestrin
ProtoNet:

Suggested Antigen Peptide Sequences for CASQ2 Gene

GenScript: Design optimal peptide antigens:
  • Calsequestrin (B4DEF0_HUMAN)
  • Calsequestrin (B4DIB0_HUMAN)
  • Calsequestrin, cardiac muscle isoform (CASQ2_HUMAN)

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

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  6. Cell Lines for research

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 IBA,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 Models for research

miRNA for CASQ2 Gene

miRTarBase miRNAs that target CASQ2

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CASQ2

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 reticulum's 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
plasma membrane 2
extracellular 2
cytoskeleton 2
mitochondrion 2
nucleus 1
lysosome 1
peroxisome 0
golgi apparatus 0

Gene Ontology (GO) - Cellular Components for CASQ2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 22123818
GO:0014701 junctional sarcoplasmic reticulum membrane TAS 17569730
GO:0016529 sarcoplasmic reticulum ISS --
GO:0030018 Z disc ISS --
GO:0033017 sarcoplasmic reticulum membrane TAS --
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
2 KEGG pathways for CASQ2 Gene

SIGNOR curated interactions for CASQ2 Gene

Other effect:

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

Drugs & Compounds for CASQ2 Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Calcium citrate Approved, Investigational Pharma Target, ligand 0
Calcium Phosphate Approved Pharma Target, ligand 0
Calcium phosphate dihydrate Approved Pharma Target 0
Calcium Nutra 6876

(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

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mRNA/cDNA for CASQ2 Gene

1 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CASQ2

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

Expression for CASQ2 Gene

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  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CASQ2 Gene

mRNA expression in normal human tissues for CASQ2 Gene
mRNA expression by GTEx for CASQ2 GenemRNA expression by BioGPS 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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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(4.3)

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 30 31
  • 99.55 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia CASQ2 30 31
  • 91.04 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia CASQ2 30 31
  • 90.86 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Casq2 30
  • 87.19 (n)
Mouse
(Mus musculus)
 Mammalia Casq2 30 17 31
  • 86.56 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia CASQ2 31
  • 83 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia -- 31
  • 76 (a)
 OneToMany
-- 31
  • 75 (a)
 OneToMany
Chicken
(Gallus gallus)
 Aves CASQ2 30 31
  • 78.85 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia CASQ2 31
  • 75 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia MGC76326 30 30
  • 69.95 (n)
African clawed frog
(Xenopus laevis)
 Amphibia LOC398424 30
Zebrafish
(Danio rerio)
 Actinopterygii casq2 30 31
  • 70.84 (n)
 OneToOne
Rainbow Trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.6745 30
Worm
(Caenorhabditis elegans)
 Secernentea csq-1 31
  • 28 (a)
 OneToMany
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 31
  • 43 (a)
 OneToMany
Sea Vase
(Ciona intestinalis)
 Ascidiacea Cin.10261 30
Species where no ortholog for CASQ2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CASQ2 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
238671 Conflicting Interpretations: Ventricular tachycardia, catecholaminergic polymorphic, 2; Catecholaminergic polymorphic ventricular tachycardia 115,726,998(-) TG/CA
NM_001232.3(CASQ2):c.730_731inv (p.His244Cys) 		MISSENSE
838554 Uncertain Significance: Catecholaminergic polymorphic ventricular tachycardia 115,768,384(-) C/A
NM_001232.4(CASQ2):c.158G>T (p.Cys53Phe) 		MISSENSE
852876 Uncertain Significance: Catecholaminergic polymorphic ventricular tachycardia 115,768,459(-) T/C
NM_001232.4(CASQ2):c.83A>G (p.Tyr28Cys) 		MISSENSE
853994 Uncertain Significance: Catecholaminergic polymorphic ventricular tachycardia 115,744,897(-) G/A
NM_001232.4(CASQ2):c.250C>T (p.Leu84Phe) 		MISSENSE
859128 Pathogenic: Catecholaminergic polymorphic ventricular tachycardia 115,726,996(-) G/A
NM_001232.4(CASQ2):c.733C>T (p.Gln245Ter) 		NONSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for CASQ2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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 Assays for research

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

Disorders for CASQ2 Gene

MalaCards: The human disease database

(26) MalaCards diseases for CASQ2 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

- 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 variants affecting the gene represented in this entry.

Additional Disease Information for CASQ2

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

No data available for Genatlas for CASQ2 Gene

Publications for CASQ2 Gene

  1. 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 23 74
  2. Genetic variability of RyR2 and CASQ2 genes in an Asian population. (PMID: 19709828) Wong CH … Lee EJ (Forensic science international 2009) 3 23 41
  3. 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 23
  4. 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 23
  5. Chromosome mapping of five human cardiac and skeletal muscle sarcoplasmic reticulum protein genes. (PMID: 8406504) Otsu K … MacLennan DH (Genomics 1993) 2 3 23

ExternalLinks

View latest publications for CASQ2 gene in Mastermind

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