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CASQ2 Gene(Protein Coding)

Calsequestrin 2

GCID:
GC01M115700
GIFtS:
61
Genes Participants
UDN Logo

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 Antiarrhythmic Pathway, Pharmacodynamics and Myometrial Relaxation and Contraction Pathways. 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 CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CASQ2 Gene

Genomics for CASQ2 Gene

Products:

  1. Regulatory Element

Regulatory Elements for CASQ2 Gene

Enhancers for CASQ2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01G115765 1.1 ENCODE dbSUPER 20.9 +0.7 669 4.8 ELF3 FOXA2 SIN3A THRB ZBTB40 RAD21 RARA FOS RCOR1 CREM CASQ2 VANGL1
GH01G115771 1.4 Ensembl ENCODE dbSUPER 14.6 -3.1 -3066 1.5 ELF3 PKNOX1 RB1 ARID4B THRB ZNF2 RAD21 RFX5 RARA ZNF121 CASQ2 ENSG00000207502 ENSG00000237993 GC01P115827
GH01G115646 1.8 FANTOM5 Ensembl ENCODE dbSUPER 10.2 +119.9 119872 5.5 HDGF PKNOX1 FOXA2 ATF1 WRNIP1 FEZF1 BRCA1 ZNF766 GLIS2 FOS VANGL1 ENSG00000207502 CASQ2
GH01G115827 1.7 FANTOM5 Ensembl ENCODE 10.5 -60.4 -60437 2.9 HDGF ARID4B SIN3A ZNF2 ZBTB7B YY1 CBX5 ZNF143 ZNF207 FOS SLC22A15 CASQ2 ENSG00000237993 ATP1A1 NHLH2 GC01P115827 GC01P115841
GH01G115975 1.7 FANTOM5 ENCODE dbSUPER 10.4 -208.7 -208678 3.8 PKNOX1 SIN3A YY1 ZNF766 SP3 REST ZNF579 ZSCAN16 HMBOX1 KDM1A SLC22A15 ENSG00000237993 CASQ2 MAB21L3 IGSF3 ATP1A1 LOC101928977
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CASQ2 on UCSC Golden Path with GeneCards custom track

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

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 Structure • Gene Density

RefSeq DNA sequence for CASQ2 Gene

Proteins for CASQ2 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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:

Antibody Products

No data available for DME Specific Peptides for CASQ2 Gene

Domains & Families for CASQ2 Gene

Gene Families for CASQ2 Gene

HGNC:

Protein Domains for CASQ2 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for CASQ2 Gene

GenScript: Design optimal peptide antigens:

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

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line
  7. Flow Cytometry

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: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

Inhibitory RNA Products

Clone Products

Flow Cytometry 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 IEA,ISS --
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

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,IEA --
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

Products:

  1. Drug

(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

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

mRNA/cDNA for CASQ2 Gene

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

Unigene Clusters for CASQ2 Gene

Calsequestrin 2 (cardiac muscle):
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry 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

Products:

  1. Primer

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

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



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
Organs:
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

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
chimpanzee
(Pan troglodytes)
 Mammalia CASQ2 34 35
  • 99.55 (n)
dog
(Canis familiaris)
 Mammalia CASQ2 34 35
  • 91.04 (n)
cow
(Bos Taurus)
 Mammalia CASQ2 34 35
  • 90.86 (n)
rat
(Rattus norvegicus)
 Mammalia Casq2 34
  • 87.19 (n)
mouse
(Mus musculus)
 Mammalia Casq2 34 16 35
  • 86.56 (n)
oppossum
(Monodelphis domestica)
 Mammalia CASQ2 35
  • 83 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia -- 35
  • 76 (a)
 OneToMany
-- 35
  • 75 (a)
 OneToMany
chicken
(Gallus gallus)
 Aves CASQ2 34 35
  • 78.85 (n)
lizard
(Anolis carolinensis)
 Reptilia CASQ2 35
  • 75 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia MGC76326 34 34
  • 69.95 (n)
African clawed frog
(Xenopus laevis)
 Amphibia LOC398424 34
zebrafish
(Danio rerio)
 Actinopterygii casq2 34 35
  • 70.84 (n)
rainbow trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.6745 34
worm
(Caenorhabditis elegans)
 Secernentea csq-1 35
  • 28 (a)
 OneToMany
sea squirt
(Ciona savignyi)
 Ascidiacea -- 35
  • 43 (a)
 OneToMany
sea squirt
(Ciona intestinalis)
 Ascidiacea Cin.10261 34
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)

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
rs121434549 Pathogenic, Ventricular tachycardia, catecholaminergic polymorphic, 2 (CPVT2) [MIM:611938] 115,705,212(-) GGATC(A/C/G)ACCCG reference, missense
rs121434550 Pathogenic, Ventricular tachycardia, catecholaminergic polymorphic, 2 (CPVT2) [MIM:611938] 115,738,256(-) CAAAC(A/T)CATTG reference, missense
rs749547712 Ventricular tachycardia, catecholaminergic polymorphic, 2 (CPVT2) [MIM:611938] 115,768,444(+) CCACT(C/T)GGTCC reference, missense
VAR_076546 Ventricular tachycardia, catecholaminergic polymorphic, 2 (CPVT2) [MIM:611938]
rs139228801 Pathogenic 115,705,208(+) CGTCC(A/G/T)GGTCG reference, missense

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)

Relevant External Links for CASQ2 Gene

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

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: 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
ventricular tachycardia, catecholaminergic polymorphic, 1
  • catecholaminergic polymorphic ventricular tachycardia 1
- 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.

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 22 46 64
  2. 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 22 64
  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 P.J. … Kontula K. (Eur. J. Hum. Genet. 2003) 3 4 22 64
  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. (Am. J. Hum. Genet. 2001) 3 4 22 64
  5. Chromosome mapping of five human cardiac and skeletal muscle sarcoplasmic reticulum protein genes. (PMID: 8406504) Otsu K. … MacLennan D.H. (Genomics 1993) 2 3 22 64

Products for CASQ2 Gene

Sources for CASQ2 Gene

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