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FLASH GENE
Symbol CASQ2 contributors: mct/npt/pgu - updated : 02-12-2016
HGNC name calsequestrin 2 (cardiac muscle)
HGNC id 1513
Corresponding disease
VTSIP2 ventricular tachycardia, catecholaminergic polymorphic 2
Location 1p13.2      Physical location : 116.242.627 - 116.311.426
Synonym name
  • calsequestrin 2, fast-twitch, cardiac muscle
  • calsequestrin, cardiac muscle isoform
    • Synonym symbol(s) CAQC, PDIB2, FLJ26321, FLJ93514, CSQ2
    DNA
    TYPE functioning gene
    STRUCTURE 68.80 kb     11 Exon(s)
    Genomic sequence alignment details
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    11 - 2716 - 399 - 2009 19376574
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly
    Visualeye    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularsmooth    Homo sapiens
    Muscularstriatumcardiac  
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousneuron Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period embryo
    Text umbilical cord
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • C-terminal calcium-sensitive disordered motifs undergoing distinctive Ca(2+)-mediated folding suggesting that these disordered motifs are Ca(2+)-sensitivity
    • conjugated GlycoP
    HOMOLOGY
    interspecies homolog to murine Casq2
    intraspecies homolog to CASQ1
    Homologene
    FAMILY
  • calsequestrin family
    • CATEGORY storage
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    text
  • sarcoplasmic reticulum
  • CASQ1, CASQ2 are present in the endoplasmic reticulum vacuolar domains of some neurons and smooth muscles
  • accumulates in the perinuclear rough ER
    • basic FUNCTION
  • involved in heart development and function and in storage of calcium for muscle function
  • may be the key sarcoplasmic reticulum (SR) Ca2+ storage protein essential for SR Ca2+ release in mammalian heart
  • intrasarcoplasmic reticulum (SR) low-affinity Ca-binding protein
  • with TRDN are important for the structural organization of the SR
  • facilitates high rates of Ca(2+) release through RYR2 during systole
  • is a low-affinity, high-capacity Ca2+-binding protein that can store Ca2+ within the SR
  • regulatory role of CASQ2 on cytosolic Ca(2+) and KCNH2 channels which may contribute to the etiology of VTSIP2
  • major Ca2+ binding protein in the sarcoplasmic reticulum, which is the principle Ca2+ storage organelle of cardiac muscle
  • plays a critical role in mobilizing Ca2+ release from ER/SR lumens (PMID;
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • CASQ2, triadin and junctin form a protein complex that is associated with cardiac ryanodine receptor 2 (RYR2) SR Ca(2+) release channels
  • cooperative coordination of Ca2+ between CASQ monomers mediates their oligomerization
    • INTERACTION
    DNA
    RNA
    small molecule metal binding,
  • Ca2+
    • protein
  • constant interactions between CASQ2 and ASPH, regardless of the SR Ca(2+) concentration, implying that ASPH is an essential component of the CASQ2 scaffold
  • direct interaction exists between RYR2 and CASQ2
  • CASQ2 genes may play an important role in the GSK3B-mediated osteoblast apoptosis process
    • cell & other
    REGULATION
    Other mitochondrial stress led to concentration-dependent downregulation of CASQ2 and changes in the Ca(2+) signals of the cardiomyocytes that were accompanied by reduction in SR Ca(2+) content and amplitude and duration of Ca(2+) sparks
    ASSOCIATED DISORDERS
    corresponding disease(s) VTSIP2
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional   deletion    
    causes sarcoplasmic reticulum volume increase, premature Ca2+ release, and catecholaminergic polymorphic ventricular tachycardia
    constitutional       gain of function
    in the thyroid of patients with Graves Hyperthyroidism may lead to the production of autoantibodies and sensitized T-lymphocytes, which cross-react with calsequestrin in the extraocular muscle of patients who develop ophthalmopathy
    constitutional     --over  
    enhances hypertrophy of neonatal cardiomyocytes, and the perinuclear enriched form of CASQ2 produces a more pronounced effect compared with CASQ2-WT, consistent with their differential contributions to nuclear Ca2+ levels
    Susceptibility to familial hypertrophic cardiomyopathy
    Variant & Polymorphism other variant identified in the CASQ2 gene (Asp63Glu)in familial hypertrophic cardiomyopathy
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS