Property Summary

NCBI Gene PubMed Count 59
Grant Count 37
R01 Count 26
Funding $5,582,566.47
PubMed Score 65.85
PubTator Score 83.55

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (10)

Disease log2 FC p
Duchenne muscular dystrophy 1.223 0.000
juvenile dermatomyositis 1.242 0.000
acute quadriplegic myopathy 1.138 0.001
non-small cell lung cancer -1.365 0.000
colon cancer -5.000 0.000
lung cancer -2.300 0.017
lung adenocarcinoma -1.200 0.000
invasive ductal carcinoma -1.300 0.023
ovarian cancer 1.600 0.000
psoriasis -1.700 0.000

Gene RIF (35)

PMID Text
26153920 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.
25892673 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.
24444446 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.
24127619 The sarcoplasmic reticulum calcium content in human type II fibres is primarily determined by the CSQ1 abundance, and in type I fibres, by the combined amounts of both CSQ1 and CSQ2.
23595086 Genetic background of catecholaminergic polymorphic ventricular tachycardia in Japan.
22650415 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
22481011 patients with CASQ2-associated CPVT should be recommended to receive ICDs to prevent sudden death when medical therapy is not effective.
22421959 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.
22123818 Ca(2+) and JNT-dependent disassembly of the CSQ2 polymer
22050625 Aspartate to histidine casq2 mutation causes arrhythmia in cardiomyocytes generated from catecholaminergic polymorphic ventricular tachycardia patients.
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AA Sequence

MKRTHLFIVGIYFLSSCRAEEGLNFPTYDGKDRVVSLSEKNFKQVLKKYDLLCLYYHEPVSSDKVTQKQF      1 - 70
QLKEIVLELVAQVLEHKAIGFVMVDAKKEAKLAKKLGFDEEGSLYILKGDRTIEFDGEFAADVLVEFLLD     71 - 140
LIEDPVEIISSKLEVQAFERIEDYIKLIGFFKSEDSEYYKAFEEAAEHFQPYIKFFATFDKGVAKKLSLK    141 - 210
MNEVDFYEPFMDEPIAIPNKPYTEEELVEFVKEHQRPTLRRLRPEEMFETWEDDLNGIHIVAFAEKSDPD    211 - 280
GYEFLEILKQVARDNTDNPDLSILWIDPDDFPLLVAYWEKTFKIDLFRPQIGVVNVTDADSVWMEIPDDD    281 - 350
DLPTAEELEDWIEDVLSGKINTEDDDEDDDDDDNSDEEDNDDSDDDDDE                         351 - 399
//

Text Mined References (62)

PMID Year Title
27157848 2016 A novel heterozygous mutation in cardiac calsequestrin causes autosomal dominant catecholaminergic polymorphic ventricular tachycardia.
26153920 2015 Functional abnormalities in iPSC-derived cardiomyocytes generated from CPVT1 and CPVT2 patients carrying ryanodine or calsequestrin mutations.
25892673 2015 Targeted next-generation sequencing (NGS) of nine candidate genes with custom AmpliSeq in patients and a cardiomyopathy risk group.
24444446 2014 Association of CASQ2 polymorphisms with sudden cardiac arrest and heart failure in patients with coronary artery disease.
24127619 2013 Endogenous and maximal sarcoplasmic reticulum calcium content and calsequestrin expression in type I and type II human skeletal muscle fibres.
23595086 2013 Genetic background of catecholaminergic polymorphic ventricular tachycardia in Japan.
22650415 2013 The phenotype of a CASQ2 mutation in a Saudi family with catecholaminergic polymorphic ventricular tachycardia.
22481011 2012 Importance of ventricular tachycardia storms not terminated by implantable cardioverter defibrillators shocks in patients with CASQ2 associated catecholaminergic polymorphic ventricular tachycardia.
22421959 2012 Calsequestrin mutations and catecholaminergic polymorphic ventricular tachycardia.
22198169 2012 Calsequestrin 2 and arrhythmias.
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