Affinage

CASQ2

Calsequestrin-2 · UniProt O14958

Length
399 aa
Mass
46.4 kDa
Annotated
2026-06-09
41 papers in source corpus 16 papers cited in narrative 16 extracted findings
Cross-family judge vs UniProt: Affinage preferred faithfulness: 6/6 claims corpus-supported (100%)

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

CASQ2 is the major Ca2+-storage and -buffering protein of the junctional sarcoplasmic reticulum (SR) in cardiac myocytes, where it provides a releasable luminal Ca2+ reservoir and governs ryanodine-receptor (RyR2)-mediated Ca2+ release (PMID:11704930, PMID:16932808). Its Ca2+-holding capacity depends on polymerization of CASQ2 monomers across a highly negatively charged domain; mutations that disrupt this charge or assembly (e.g. D307H, the G112+5X truncation, K206N hyperglycosylation) abolish or reduce Ca2+ binding and lower SR Ca2+ load (PMID:11704930, PMID:16908766, PMID:20302875). Beyond passive buffering, CASQ2 acts as a luminal Ca2+ sensor that stabilizes RyR2 in a refractory, closed state during diastole: the R33Q mutation lowers the luminal Ca2+ threshold for terminating Ca2+ release without impairing Ca2+ binding, demonstrating a direct regulatory role at the CASQ2-RyR2 interface (PMID:18469084). CASQ2 functions within a junctional complex with triadin-1 and junctin, whose levels collapse when CASQ2 is lost or mutated, and restoring CASQ2 re-establishes this complex and calcium-release-unit ultrastructure (PMID:16932808, PMID:21984545, PMID:24888331). Loss or mutation of CASQ2 therefore enlarges SR volume, destabilizes RyR2, and—under catecholaminergic stress and CaMKII-mediated RyR2 phosphorylation—produces diastolic SR Ca2+ leak, spontaneous Ca2+ waves, and delayed afterdepolarizations that trigger arrhythmia (PMID:16932808, PMID:17607358, PMID:30450052). CASQ2 mutations cause catecholaminergic polymorphic ventricular tachycardia, and the arrhythmic phenotype requires CASQ2 deficiency in the cardiac conduction system, with AAV9-mediated CASQ2 gene replacement rescuing the molecular complex and eliminating arrhythmia in mouse and patient iPSC-cardiomyocyte models (PMID:11704930, PMID:29452352, PMID:24888331, PMID:27711080).

Mechanistic history

Synthesis pass · year-by-year structured walk · 13 steps
  1. 2001 Medium

    Establishing CASQ2 as a CPVT disease gene answered whether an SR Ca2+-storage protein, rather than RyR2 itself, could underlie inherited arrhythmia, implicating SR Ca2+ buffering in arrhythmogenesis.

    Evidence Direct sequencing and segregation of the D307H missense mutation in Bedouin families, with biochemical inference from charged-domain disruption

    PMID:11704930

    Open questions at the time
    • No direct in vitro Ca2+-binding assay in this study
    • Mechanistic link between disrupted buffering and arrhythmia not yet demonstrated
  2. 2006 High

    A Casq2-null mouse revealed that CASQ2 loss reorganizes the junctional SR and destabilizes its protein partners, defining the molecular consequences of CASQ2 deficiency.

    Evidence Knockout mouse with SR volume measurement, immunoblot for triadin-1/junctin, Ca2+ imaging, and in vivo ECG telemetry

    PMID:16932808

    Open questions at the time
    • Does not separate buffering loss from RyR2 regulatory effects
    • Tissue-specific contribution of CASQ2 loss not addressed
  3. 2006 High

    Comparing a non-Ca2+-binding truncation with a normally-binding point mutant began to dissociate CASQ2's Ca2+-buffering capacity from other functional defects driving arrhythmia.

    Evidence Expression of G112+5X and L167H mutants in rat cardiomyocytes with Ca2+-binding assay and spark/transient imaging

    PMID:16908766

    Open questions at the time
    • Mechanism by which L167H impairs function despite normal Ca2+ binding unresolved
    • Heterologous rat myocyte context
  4. 2007 High

    Knock-in (D307H) and null models, plus pharmacological RyR2 inhibition, established that RyR2 dysfunction is the central downstream effector of CASQ2 deficiency.

    Evidence Two mouse models with immunoblotting, Ca2+ imaging, Mg2+ rescue, and in vivo ECG

    PMID:17607358

    Open questions at the time
    • Post-transcriptional upregulation of RyR2/calreticulin mechanism not defined
    • Did not isolate luminal sensing from buffering
  5. 2008 High

    Dissecting R33Q versus polymerization-defective mutants distinguished CASQ2's RyR2 luminal-gating control from its high-capacity Ca2+ buffering, defining two separable functions.

    Evidence Mutant expression in canine myocytes with FRET polymerization assays, triadin interaction assays, and luminal Ca2+ threshold measurement

    PMID:18469084

    Open questions at the time
    • Structural basis of CASQ2-RyR2 luminal coupling not resolved
    • FRET in heterologous expression
  6. 2010 High

    The K206N mutation linked an additional N-glycosylation event to altered CASQ2 aggregation, reduced SR load, and increased RyR2 open probability, broadening the mutational mechanisms beyond charge disruption.

    Evidence Expression in cell lines and neonatal mouse myocytes with glycosylation/MW immunoblot, Ca2+- and [3H]ryanodine-binding assays, and Ca2+ imaging

    PMID:20302875

    Open questions at the time
    • Whether glycosylation drives mislocalization not established
    • Triadin interaction unchanged, leaving RyR2 effect mechanism partly open
  7. 2011 Medium

    Re-expressing D307H in null hearts showed that partial restoration of triadin-1 cannot rescue SR Ca2+ load, confirming impaired buffering as an intrinsic D307H defect.

    Evidence Stable D307H expression in CASQ2-null mouse hearts with triadin-1 immunoblot, Ca2+ imaging, and isoproterenol challenge

    PMID:21984545

    Open questions at the time
    • Single lab rescue model
    • Relative contribution of buffering versus triadin binding to phenotype not quantified
  8. 2012 High

    Genetic epistasis with SERCA1a overexpression or phospholamban deletion demonstrated that enhanced SR Ca2+ uptake combined with dysregulated RyR2 produces sustained diastolic Ca2+ release and cardiomyopathy.

    Evidence Double mutant mouse strains with echocardiography, Ca2+ imaging, apoptosis assays, and contractile measurements

    PMID:23135969

    Open questions at the time
    • Does not address whether human CPVT progresses to cardiomyopathy via this route
  9. 2015 High

    Double knockout of CASQ2 and HRC revealed opposing modulation of RyR2—CASQ2 stabilizing the refractory state while HRC promotes recovery—refining the model of luminal control of RyR2.

    Evidence CASQ2/HRC double knockout mice with arrhythmia telemetry, Ca2+ imaging, and SR Ca2+ release restitution measurement

    PMID:26410369

    Open questions at the time
    • Molecular basis of CASQ2 versus HRC opposing effects on RyR2 not structurally defined
  10. 2018 High

    Cell-type-specific deletion and rescue established that CASQ2 function in the cardiac conduction system is necessary and sufficient for the CPVT phenotype, identifying tissue-autonomous roles.

    Evidence Conditional CCS-specific and cardiomyocyte-specific deletion/rescue mice with in vivo ECG and arrhythmia provocation

    PMID:29452352

    Open questions at the time
    • Cellular basis of conduction-system-specific susceptibility unresolved
  11. 2018 Medium

    Atrial myocyte analysis connected CASQ2 deficiency to CaMKII activation and CaMKII-mediated RyR2 Ser2814 phosphorylation as a driver of triggered activity.

    Evidence R33Q knock-in mice with Ca2+ imaging, patch-clamp, immunoblot for CaMKII/phospho-RyR2, and KN93 inhibition

    PMID:30450052

    Open questions at the time
    • Whether CaMKII activation is cause or consequence of altered Ca2+ handling not resolved
    • Single lab
  12. 2020 Medium

    Comparing R33Q and D307H knock-ins showed that distinct mutations trigger distinct degradation routes and adaptive pathways despite convergent arrhythmia phenotypes.

    Evidence Comparative biochemical analysis of two knock-in mouse hearts with protein quantification across adaptive pathways

    PMID:32902830

    Open questions at the time
    • Limited methodological detail
    • Functional significance of distinct adaptive pathways not tested
  13. 2016 Medium

    AAV9 CASQ2 gene replacement in patient iPSC-cardiomyocytes and in R33Q knock-in mice established that restoring CASQ2 rescues the junctional complex, ultrastructure, and arrhythmia, providing therapeutic proof of concept.

    Evidence iPSC-derived cardiomyocytes and R33Q mice with AAV9 delivery, co-IP for CASQ2-junctin-triadin, Ca2+ imaging, electron microscopy, patch-clamp, and arrhythmia monitoring

    PMID:24888331 PMID:27711080

    Open questions at the time
    • Durability and dose requirements in human heart not established
    • Recessive versus dominant mutation responses may differ

Open questions

Synthesis pass · forward-looking unresolved questions
  • The atomic structure of the CASQ2-RyR2-triadin-junctin junctional complex and the precise mechanism by which declining luminal Ca2+ is transduced to RyR2 closure remain undefined.
  • No high-resolution structure of the CASQ2-RyR2 interface in the corpus
  • Mechanism of luminal Ca2+-dependent RyR2 refractoriness not structurally resolved
  • ANKRD1-CASQ2 interaction function not characterized

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0140313 molecular sequestering activity 3 GO:0098772 molecular function regulator activity 2 GO:0140299 molecular sensor activity 1
Localization
GO:0005783 endoplasmic reticulum 2
Pathway
R-HSA-382551 Transport of small molecules 2 R-HSA-397014 Muscle contraction 2
Partners
ANKRD1ASPHCASQ2HRCRYR2TRDN
Complex memberships
RyR2-triadin-junctin junctional SR complexcalcium release unit

Evidence

Reading pass · 16 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
2001 A missense mutation (D307H) in CASQ2 converts a negatively charged aspartic acid to a positively charged histidine in a highly negatively charged domain, likely disrupting Ca2+ binding. CASQ2 protein serves as the major Ca2+ reservoir within the sarcoplasmic reticulum (SR) of cardiac myocytes and is part of a protein complex that contains the ryanodine receptor (RyR2). Direct sequencing of CASQ2 in affected Bedouin families; mutation segregation analysis; biochemical inference from domain charge properties American journal of human genetics Medium 11704930
2006 Casq2 deletion in mice causes striking increases in SR volume and near absence of the Casq2-binding proteins triadin-1 and junctin, without upregulation of other Ca2+-binding proteins. Under catecholamine exposure, Casq2-null myocytes show increased diastolic SR Ca2+ leak and premature spontaneous SR Ca2+ releases, leading to triggered beats and ventricular arrhythmias in vivo. Casq2 knockout mouse model; Ca2+ imaging; immunoblotting for binding partners (triadin-1, junctin); in vivo ECG telemetry; SR volume measurement The Journal of clinical investigation High 16932808
2006 CASQ2 mutations G112+5X (truncation) and L167H expressed in rat myocytes both decreased SR Ca2+-storing capacity and reduced Ca2+ transient amplitude and spontaneous Ca2+ spark amplitude. The truncated CASQ2(G112+5X) did not bind Ca2+, whereas CASQ2(L167H) had normal Ca2+-binding properties. CASQ2(G112+5X) expression led to delayed afterdepolarizations upon isoproterenol exposure. In vitro characterization of CASQ2 mutants expressed in rat cardiomyocytes; Ca2+ imaging (sparks and transients); Ca2+-binding assay Circulation High 16908766
2007 CASQ2 D307H missense and CASQ2-null mutations in mice caused identical consequences: reduced CASQ2 protein, increased calreticulin and RyR2 expression (at post-transcriptional level), reduced total SR Ca2+, prolonged Ca2+ release, and delayed Ca2+ reuptake. Under stress, elevated cytosolic Ca2+ and frequent spontaneous SR Ca2+ release occurred. Mg2+ (a RyR2 inhibitor) normalized myocyte Ca2+ cycling and decreased CPVT in mutant mice, indicating that RyR2 dysfunction is central to CASQ2-deficiency pathophysiology. Knock-in (D307H) and null mouse models; immunoblotting; Ca2+ imaging; pharmacological rescue with Mg2+; in vivo ECG The Journal of clinical investigation High 17607358
2008 CASQ2(DEL/G112+5X) disrupts CASQ2 polymerization required for high-capacity Ca2+ binding. CASQ2(R33Q) compromises CASQ2's ability to control RyR2 channel activity through CASQ2-RyR2 interaction, markedly lowering the luminal [Ca2+] threshold for Ca2+ release termination. FRET assays showed CASQ2-CASQ2 variant interactions, and CASQ2 interaction with triadin was evaluated. Local Ca2+ release terminated at the same free luminal [Ca2+] in control, WT CASQ2-overexpressing, and CASQ2(DEL) cells, suggesting declining [Ca]SR signals RyR2 closure. Expression of CASQ2 mutants in canine ventricular myocytes; Ca2+ imaging; FRET-based CASQ2 polymerization assay; triadin interaction assay; measurement of luminal Ca2+ thresholds Biophysical journal High 18469084
2005 ANKRD1 (CARP) specifically interacts with CASQ2 in cardiac tissue extracts from neonatal piglets. Pull-down, blot-overlay, and co-immunoprecipitation assays confirmed direct and specific interaction. Mapping identified five non-overlapping CASQ2-binding sequences on ANKRD1 and three ANKRD1-binding peptides in CASQ2. Both proteins are co-enriched in cardiac Purkinje cells. Pull-down from heart tissue extracts; blot-overlay; co-immunoprecipitation; peptide mapping; immunohistochemistry Journal of molecular and cellular cardiology Medium 15698842
2010 The CASQ2 K206N mutation creates an additional N-glycosylation site, resulting in hyperglycosylation and higher molecular weight protein. The mutation reduced Ca2+ binding capacity, altered aggregation state, and resulted in lower SR Ca2+ load (impaired caffeine response). Maximal specific [3H]ryanodine binding was increased in K206N-expressing myocytes, suggesting increased RyR2 open state probability, and spontaneous SR Ca2+ release rate was higher under basal and beta-adrenergic stimulation conditions. Interaction with triadin was unchanged. Expression in eukaryotic cell lines and neonatal mouse myocytes; immunoblot (MW shift); Ca2+ binding assay; caffeine-induced Ca2+ transients; [3H]ryanodine binding; spontaneous Ca2+ release imaging Journal of molecular and cellular cardiology High 20302875
2010 CASQ2 wild-type and CASQ2 mutants (R33Q, F189L, D307H) modulate hERG channel function in Xenopus oocytes, with CASQ2 mutants modulating hERG differently from wild-type. Free Ca2+ measurements showed altered Ca2+ buffer capacity in the mutants, paralleled by changes in dynamic behavior of CASQ2-mutants compared to wild-type. Two-electrode voltage clamp in Xenopus oocytes expressing CASQ2 variants with hERG; free Ca2+ measurements; molecular dynamics simulations Cellular physiology and biochemistry Medium 21063088
2011 CASQ2(D307H) mutant protein expressed in CASQ2-null mice partially restored triadin-1 levels (which were decreased in null mice), but despite 2-fold expression relative to WT CASQ2, failed to increase SR Ca2+ load. CASQ2(D307H) myocytes showed slowed Ca2+ transient decay and exhibited spontaneous Ca2+ waves upon isoproterenol, similar to null myocytes, consistent with impaired Ca2+ buffering capacity and poor interaction with triadin-1 affecting RyR2 stability. Stable expression of D307H mutant in CASQ2-null mouse hearts; immunoblot for triadin-1; Ca2+ imaging (transients, waves); isoproterenol challenge; in vivo ECG American journal of physiology. Heart and circulatory physiology Medium 21984545
2012 Crossbreeding CASQ2-null mice with mice overexpressing SERCA1a (skeletal SR Ca2+ATPase) caused early mortality, dilated cardiomyopathy, and increased apoptosis, with multiple periodic Ca2+ waves in diastole despite normal systolic Ca2+ transients. Similar results were obtained by crossing CASQ2-KO with phospholamban-KO mice. This genetic epistasis demonstrates that enhanced SR Ca2+ uptake combined with dysregulated RyR2s (from CASQ2 absence) causes sustained diastolic Ca2+ release leading to cardiomyopathy. Double knockout/overexpression mouse models; echocardiography; Ca2+ imaging in cardiomyocytes; apoptosis assays; muscle force measurements; genetic epistasis Cardiovascular research High 23135969
2014 AAV9-mediated delivery of wild-type CASQ2 into R33Q knock-in mice restored physiological expression and interaction of CASQ2, junctin, and triadin; rescued electrophysiological and ultrastructural abnormalities in calcium release units; and eliminated life-threatening arrhythmias for up to 1 year after a single injection. AAV9 gene transfer in CASQ2(R33Q/R33Q) knock-in mice; immunoblot/co-immunoprecipitation for CASQ2-junctin-triadin interactions; Ca2+ imaging; electron microscopy of calcium release units; in vivo arrhythmia monitoring Circulation High 24888331
2015 Double knockout (DKO) of both CASQ2 and HRC (histidine-rich Ca-binding protein) in mice alleviated catecholamine-dependent arrhythmia compared to CASQ2-KO alone, and reduced spontaneous Ca2+ waves and sparks. This indicates that CASQ2 and HRC modulate RyR2 in opposing ways: CASQ2 stabilizes RyR2 rendering it refractory during diastole, while HRC enhances RyR2 activity facilitating its recovery from refractoriness. Double knockout mouse model; in vivo arrhythmia telemetry; Ca2+ imaging (sparks, waves, transients); SR Ca2+ release restitution measurement; genetic epistasis Cardiovascular research High 26410369
2018 CPVT phenotype in CASQ2-deficient mice is dependent on concurrent loss of Casq2 function in both the cardiac conduction system (CCS) and working cardiomyocytes. Restoration of Casq2 only in the CCS is sufficient to prevent CPVT. Resting heart rate depends on Casq2 expression only in the CCS and is also influenced by developmental history of Casq2 deficiency. Conditional cell-type-specific deletion and rescue mouse models (CCS-specific and working cardiomyocyte-specific); in vivo ECG telemetry; arrhythmia provocation Human molecular genetics High 29452352
2018 In CASQ2(R33Q/R33Q) atrial myocytes, reduced levels of the RyR2 stable subunits (Casq2, triadin, junctin) accompanied increased CaMKII expression, phospho-CaMKII, and CaMKII-mediated phospho-RyR2 (Ser2814), as well as increased SERCA and NCX1.1. CaMKII inhibition (KN93) reversed isoproterenol-enhanced Ca2+ sparks, Ca2+ waves, inward transient current (ITi), and membrane potential oscillations in R33Q atrial myocytes. CASQ2 R33Q knock-in mouse model; Ca2+ imaging (sparks, waves); patch-clamp; immunoblot for CaMKII, phospho-RyR2, SERCA, NCX1.1; pharmacological CaMKII inhibition with KN93 Frontiers in physiology Medium 30450052
2020 Comparative analysis of R33Q and D307H CASQ2 knock-in mice revealed that despite similar clinical arrhythmia phenotypes, each point mutation causes distinct molecular mechanisms of CASQ2 degradation and evokes different specific adaptive cellular and molecular processes across four adaptive pathways. Comparative biochemical analysis of R33Q and D307H knock-in mouse hearts; protein quantification; analysis of multiple adaptive pathways Journal of muscle research and cell motility Medium 32902830
2016 AAV9-mediated delivery of human wild-type CASQ2 into iPSC-derived cardiomyocytes from a patient carrying homozygous CASQ2-G112+5X restored physiological calsequestrin-2 protein expression, decreased delayed afterdepolarizations (DADs) upon adrenergic stimulation, re-established Ca2+ transient amplitude, and normalized Ca2+ spark density and duration. iPSC-derived cardiomyocytes from CPVT2 patient; AAV9 gene delivery; patch-clamp (DADs); Ca2+ imaging (transients, sparks); immunoblot Cell death & disease Medium 27711080

Source papers

Stage 0 corpus · 41 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
2001 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. American journal of human genetics 495 11704930
2006 Casq2 deletion causes sarcoplasmic reticulum volume increase, premature Ca2+ release, and catecholaminergic polymorphic ventricular tachycardia. The Journal of clinical investigation 383 16932808
2006 Clinical phenotype and functional characterization of CASQ2 mutations associated with catecholaminergic polymorphic ventricular tachycardia. Circulation 164 16908766
2007 Calsequestrin 2 (CASQ2) mutations increase expression of calreticulin and ryanodine receptors, causing catecholaminergic polymorphic ventricular tachycardia. The Journal of clinical investigation 150 17607358
2014 Single delivery of an adeno-associated viral construct to transfer the CASQ2 gene to knock-in mice affected by catecholaminergic polymorphic ventricular tachycardia is able to cure the disease from birth to advanced age. Circulation 87 24888331
2008 Modulation of SR Ca release by luminal Ca and calsequestrin in cardiac myocytes: effects of CASQ2 mutations linked to sudden cardiac death. Biophysical journal 82 18469084
2016 Adeno-associated virus-mediated CASQ2 delivery rescues phenotypic alterations in a patient-specific model of recessive catecholaminergic polymorphic ventricular tachycardia. Cell death & disease 50 27711080
2003 A missense mutation in the CASQ2 gene is associated with autosomal-recessive catecholamine-induced polymorphic ventricular tachycardia. Trends in cardiovascular medicine 50 12732448
2011 Common variants in CASQ2, GPD1L, and NOS1AP are significantly associated with risk of sudden death in patients with coronary artery disease. Circulation. Cardiovascular genetics 46 21685173
2013 Flecainide therapy suppresses exercise-induced ventricular arrhythmias in patients with CASQ2-associated catecholaminergic polymorphic ventricular tachycardia. Heart rhythm 43 23954267
2010 The human CASQ2 mutation K206N is associated with hyperglycosylation and altered cellular calcium handling. Journal of molecular and cellular cardiology 35 20302875
2012 Up-regulation of sarcoplasmic reticulum Ca(2+) uptake leads to cardiac hypertrophy, contractile dysfunction and early mortality in mice deficient in CASQ2. Cardiovascular research 34 23135969
2010 Modulation of human ether a gogo related channels by CASQ2 contributes to etiology of catecholaminergic polymorphic ventricular tachycardia (CPVT). Cellular physiology and biochemistry : international journal of experimental cellular physiology, biochemistry, and pharmacology 32 21063088
2004 A missense mutation in CASQ2 is associated with autosomal recessive catecholamine-induced polymorphic ventricular tachycardia in Bedouin families from Israel. Annals of medicine 31 15176429
2005 ANKRD1 specifically binds CASQ2 in heart extracts and both proteins are co-enriched in piglet cardiac Purkinje cells. Journal of molecular and cellular cardiology 30 15698842
2010 The cardiac calsequestrin gene (CASQ2) is up-regulated in the thyroid in patients with Graves' ophthalmopathy--support for a role of autoimmunity against calsequestrin as the triggering event. Clinical endocrinology 21 20039900
2015 Ablation of HRC alleviates cardiac arrhythmia and improves abnormal Ca handling in CASQ2 knockout mice prone to CPVT. Cardiovascular research 19 26410369
2011 Functional consequences of stably expressing a mutant calsequestrin (CASQ2D307H) in the CASQ2 null background. American journal of physiology. Heart and circulatory physiology 16 21984545
2018 Calcium-Mediated Oscillation in Membrane Potentials and Atrial-Triggered Activity in Atrial Cells of Casq2R33Q/R33Q Mutation Mice. Frontiers in physiology 15 30450052
2009 Genetic variability of RyR2 and CASQ2 genes in an Asian population. Forensic science international 14 19709828
2017 Compound heterozygous CASQ2 mutations and long-term course of catecholaminergic polymorphic ventricular tachycardia. Molecular genetics & genomic medicine 13 29178653
2011 Functional analysis reveals splicing mutations of the CASQ2 gene in patients with CPVT: implication for genetic counselling and clinical management. Human mutation 12 21618644
2020 Molecular adaptation to calsequestrin 2 (CASQ2) point mutations leading to catecholaminergic polymorphic ventricular tachycardia (CPVT): comparative analysis of R33Q and D307H mutants. Journal of muscle research and cell motility 10 32902830
2011 Sildenafil and FDP-Sr attenuate diabetic cardiomyopathy by suppressing abnormal expression of myocardial CASQ2, FKBP12.6, and SERCA2a in rats. Acta pharmacologica Sinica 10 21441944
2008 [A Novel mutation of F189L in CASQ2 in families with catecholaminergic polymorphic ventricular tachycardia]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 10 18543230
2024 ent-Verticilide B1 Inhibits Type 2 Ryanodine Receptor Channels and is Antiarrhythmic in Casq2 -/- Mice. Molecular pharmacology 9 38253398
2018 Conditional ablation and conditional rescue models for Casq2 elucidate the role of development and of cell-type specific expression of Casq2 in the CPVT2 phenotype. Human molecular genetics 9 29452352
2017 Characterization of fast-twitch and slow-twitch skeletal muscles of calsequestrin 2 (CASQ2)-knock out mice: unexpected adaptive changes of fast-twitch muscles only. Journal of muscle research and cell motility 8 28130614
2012 Accelerated junctional rhythm and nonalternans repolarization lability precede ventricular tachycardia in Casq2-/- mice. Journal of cardiovascular electrophysiology 8 22860618
2024 CASQ2 alleviates lung cancer by inhibiting M2 tumor-associated macrophage polarization and JAK/STAT pathway. Journal of biochemical and molecular toxicology 5 39132772
2019 A Homozygous CASQ2 Mutation in a Japanese Patient with Catecholaminergic Polymorphic Ventricular Tachycardia. Case reports in genetics 5 30729048
2015 Left Cardiac Sympathetic Denervation in Patients with CASQ2-Associated Catecholaminergic Polymorphic Ventricular Tachycardia. The Israel Medical Association journal : IMAJ 5 26625541
2012 The phenotype of a CASQ2 mutation in a Saudi family with catecholaminergic polymorphic ventricular tachycardia. Pacing and clinical electrophysiology : PACE 5 22650415
2023 Catecholaminergic polymorphic ventricular tachycardia (and seizure) caused by a novel homozygous likely pathogenic variant in CASQ2 gene. Gene 4 37995796
2023 Acute aerobic exercise regulation of myocardial calcium homeostasis involves CASQ1, CASQ2, and TRDN. Journal of applied physiology (Bethesda, Md. : 1985) 3 37589058
2019 Localization of Tfap2β, Casq2, Penk, Zic1, and Zic3 Expression in the Developing Retina, Muscle, and Sclera of the Embryonic Mouse Eye. The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society 3 31638440
2022 Pacing Dynamics Determines the Arrhythmogenic Mechanism of the CPVT2-Causing CASQ2G112+5X Mutation in a Guinea Pig Ventricular Myocyte Computational Model. Genes 2 36672764
2024 Investigation of a Large Kindred Reveals Cardiac Calsequestrin (CASQ2) as a Cause of Brugada Syndrome. Genes 1 39062601
2024 Induction of ventricular fibrillation during programmed ventricular stimulation in a patient with CASQ2 heterozygous mutation. Journal of cardiovascular electrophysiology 1 39164998
2023 ent -Verticilide B1 inhibits type 2 ryanodine receptor channels and is antiarrhythmic in Casq2-/- mice. bioRxiv : the preprint server for biology 1 37461611
2020 Association of T66A polymorphism in CASQ2 with PR interval in a Chinese population. Herz 1 32291483

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