Recombinant Human Calsequestrin-2 (CASQ2)

1. We show for the first time a heterozygous CASQ2 variant causing autosomal dominant CPVT in a large family with a severe phenotype. PMID: 27157848
2. a direct interaction exists between RyR2 and CSQ2, is reported. PMID: 27609834
3. induced Pluripotent Stem Cell-derived cardiomyocytes are useful for investigating the similarities/differences in the pathophysiological consequences of RyR2 versus CASQ2 mutations underlying Catecholaminergic polymorphic ventricular tachycardia. PMID: 26153920
4. Mutations in the MYBPC3 and CASQ2 genes and six combinations between loci in the MYBPC3, MYH7 and CASQ2 genes were responsible for cardiomyopathy risk in a studied cohort. PMID: 25892673
5. We observed association between a CASQ2 polymorphism and SCA due to VA in patients with CAD adjusting for CHF and independent associations between CASQ2 SNPs and CHF adjusting for SCA. PMID: 24444446
6. Molecular analysis of the CASQ2 gene in 43 probands with Catecholaminergic polymorphic ventricular tachycardia were performed and eight mutations in five patients, were identified. PMID: 21618644
7. Genetic background of catecholaminergic polymorphic ventricular tachycardia in Japan. PMID: 23595086
8. In a consanguineous family, a novel homozygous CASQ2 mutation (p.L77P) was identified in a child with CPVT who required implantation of a cardioverter defibrillator due to episodes of syncope while on medical therapy PMID: 22650415
9. A review of the physiology of Casq2 in cardiac Ca2+ handling and discuss pathophysiological mechanisms that lead to catecholaminergic polymorphic ventricular tachycardia caused by CASQ2 mutations. PMID: 22421959
10. patients with CASQ2-associated CPVT should be recommended to receive ICDs to prevent sudden death when medical therapy is not effective. PMID: 22481011
11. Aspartate to histidine casq2 mutation causes arrhythmia in cardiomyocytes generated from catecholaminergic polymorphic ventricular tachycardia patients. PMID: 22050625
12. Ca(2+) and JNT-dependent disassembly of the CSQ2 polymer PMID: 22123818
13. Two causative genes of CPVT have been identified: RYR2, encoding the cardiac ryanodine receptor (RyR2) Ca(2+) release channel, and CASQ2, encoding cardiac calsequestrin. Their mutation have been found in 60% of patients with CPVT. PMID: 21872879
14. Common variations in or near CASQ2, GPD1L, and NOS1AP are associated with increased risk of sudden cardiac death in patients with coronary artery disease PMID: 21685173
15. Studies identified two phosphorylation sites, Ser(385) and Ser(393 in hCASQ2 by mass-spectroscopy. PMID: 21416293
16. Catecholaminergic polymorphic ventricular tachycardia (CPTV) mutations modify CASQ2 behaviour, including folding, aggregation/polymerization and selectivity towards Ca2+. PMID: 21265816
17. up-regulation of casq2 gene in the thyroid of patients with Graves' Hyperthyroidism may lead to the production of autoantibodies and sensitized T-lymphocytes, which cross-react with calsequestrin of patients who develop ophthalmopathy. PMID: 20039900
18. A regulatory role of CASQ2 on cytosolic Ca(2+) and hERG channels which may contribute to the etiology of CPVT. PMID: 21063088
19. The human CASQ2 mutation K206N is associated with hyperglycosylation and altered cellular calcium handling. PMID: 20302875
20. 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
21. calsequestrin 2 mutations causes severe forms of catecholaminergic polymorphic ventricular tachycardia PMID: 12386154
22. missense mutation in the CASQ2 gene is associated with autosomal-recessive CPVT(catecholamine-induced polymorphic ventricular tachycardia). PMID: 12732448
23. 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: 12858557
24. Intracellular Ca2+ cycling in normal heart relies on intricate interplay of CASQ2 with proteins of RyR2 channel complex, and disruption of these interactions can lead to cardiac arrhythmia. PMID: 16601229
25. CASQ2 mutations identified in polymorphic ventricular tachycardia create distinct abnormalities that lead to abnormal intracellular calcium regulation, thus facilitating the development of tachyarrhythmias. PMID: 16908766
26. CSQ was a highly phosphorylated protein with a glycan structure predictive of ER-retained proteins. PMID: 17045261
27. A variant was identified in CASQ2. PMID: 17655857
28. Data show that all three CPVT-related missense mutations lead to significant reduction in Ca2+-binding capacity and scattering experiments confirm that the linear polymerization behavior of CSQ is linked directly to its high-capacity Ca2+ binding. PMID: 17881003
29. analysis of how human and rat CASQ2 ventricular tachycardia-related mutations R33Q and L167H alter calcium sensitivity PMID: 18399795
30. study concludes CASQ2 in the sarcoplasmic reticulum (SR )determines magnitude & duration of Ca release from each SR terminal; 2 CPVT-inducing CASQ2 mutations lead to increased diastolic SR Ca release events and exhibit a similar CPVT disease phenotype PMID: 18469084
31. A novel mutation of F189L in the CASQ2 gene was identified in families with catecholaminergic polymorphic ventricular tachycardia. PMID: 18543230
32. REVIEW of Casq2 mutations that cause catecholaminergic polymorphic ventricular tachycardia and their effects on Casq2 function and Ca handling PMID: 18669926
33. Facilitated maturation of Ca2+ handling properties of human embryonic stem cell-derived cardiomyocytes by calsequestrin expression. PMID: 19357236
34. Data suggest that calsequestrin (CSQ)2 facilitates Ca(2+) release through RyR2 during systole, while CSQ1 curtails RyR1 opening to maintain Ca(2+) and allow repeated release/ graded activation with increased stimulation frequency. PMID: 19376574
35. Cardiac and fatal or near-fatal events were not rare in both catecholaminergic polymorphic ventricular tachycardia RYR2 and a CASQ2 mutation probands and affected family members during the long-term follow-up PMID: 19398665

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HGNC: 1513

OMIM: 114251

KEGG: hsa:845

STRING: 9606.ENSP00000261448

UniGene: Hs.57975