HomeAboutRankingsData Sources
Β© 2026 GeneE
🧬
GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
CASQ2
calsequestrin 2
Chromosome 1 Β· 1p13.1
NCBI Gene: 845Ensembl: ENSG00000118729.16HGNC: HGNC:1513UniProt: O14958
85PubMed Papers
21Diseases
0Drugs
79Pathogenic Variants
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingprotein polymerizationcalcium ion bindingcalcium ion sequestering activitycatecholaminergic polymorphic ventricular tachycardiacatecholaminergic polymorphic ventricular tachycardia 1atrial fibrillationAbnormality of the cardiovascular system
✦AI Summary

CASQ2 encodes calsequestrin 2, a high-capacity calcium-binding protein that sequesters approximately 60 Ca2+ ions within the sarcoplasmic reticulum of cardiac muscle 1. It regulates calcium release through the ryanodine receptor 2 (RYR2), playing a critical role in excitation-contraction coupling and maintaining intracellular calcium homeostasis 1. CASQ2 mutations impair calcium handling by reducing the protein's calcium-binding capacity and altering its aggregation state, which increases the opening probability of the RYR2 calcium release channel 2. This pathological mechanism leads to excessive diastolic calcium release, generating delayed afterdepolarizations that trigger arrhythmias 1. CASQ2 mutations cause catecholaminergic polymorphic ventricular tachycardia (CPVT-2), a stress-induced arrhythmogenic disorder characterized by bidirectional and polymorphic ventricular tachycardia, syncope, and sudden cardiac death in young patients 31. Current therapeutic approaches include Ξ²-blockers, flecainide, and left cardiac sympathetic denervation, with emerging strategies targeting calcium handling through SK channel enhancement and gene therapy 14. Disease modeling using human cardiac organoids derived from CASQ2-mutant pluripotent stem cells recapitulates the pro-arrhythmia phenotype, enabling drug discovery platforms 5.

Sources cited
1
CASQ2 encodes calsequestrin 2 that regulates calcium release through RYR2 in excitation-contraction coupling; CPVT-2 pathophysiology involves excess diastolic calcium load causing delayed afterdepolarizations; current treatments include Ξ²-blockers, flecainide, and sympathetic denervation
PMID: 31934898
2
CASQ2 K206N mutation reduces calcium-binding capacity, alters aggregation state, and increases RYR2 channel opening, leading to spontaneous calcium releases
PMID: 20302875
3
CASQ2 variants cause CPVT-2 and may be associated with neurological signs; homozygous nonsense variants identified in families with sudden cardiac death
PMID: 37995796
4
Human cardiac organoids derived from CASQ2-mutant pluripotent stem cells exhibit pro-arrhythmia phenotype, enabling disease modeling and drug screening
PMID: 40562874
5
CASQ2 knockout mouse model demonstrates CPVT phenotype; SK channel enhancement reduces arrhythmias by restoring repolarization and reducing spontaneous calcium waves
PMID: 40438932
Disease Associationsβ“˜21
catecholaminergic polymorphic ventricular tachycardiaOpen Targets
0.77Strong
catecholaminergic polymorphic ventricular tachycardia 1Open Targets
0.59Moderate
atrial fibrillationOpen Targets
0.56Moderate
Abnormality of the cardiovascular systemOpen Targets
0.54Moderate
atrial flutterOpen Targets
0.43Moderate
neurodegenerative diseaseOpen Targets
0.30Weak
protozoa infectious diseaseOpen Targets
0.30Weak
Prolonged QT intervalOpen Targets
0.30Weak
skin diseaseOpen Targets
0.29Weak
Wolff-Parkinson-White SyndromeOpen Targets
0.28Weak
injuryOpen Targets
0.25Weak
sensory perception of smellOpen Targets
0.25Weak
cardiomyopathyOpen Targets
0.19Weak
neural tube defectOpen Targets
0.17Weak
familial caudal dysgenesisOpen Targets
0.17Weak
Familial progressive cardiac conduction defectOpen Targets
0.14Weak
polymorphic ventricular tachycardiaOpen Targets
0.12Weak
progressive familial heart blockOpen Targets
0.12Weak
hypertrophic cardiomyopathyOpen Targets
0.10Suggestive
Arrhythmogenic right ventricular dysplasiaOpen Targets
0.10Suggestive
Ventricular tachycardia, catecholaminergic polymorphic, 2UniProt
Pathogenic Variants79
NM_001232.4(CASQ2):c.939+1G>TPathogenic
Cardiovascular phenotype|not provided|Catecholaminergic polymorphic ventricular tachycardia 2;Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 2|Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia
β˜…β˜…β˜†β˜†2026
NM_001232.4(CASQ2):c.923C>T (p.Pro308Leu)Pathogenic
not provided|Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 2
β˜…β˜…β˜†β˜†2025β†’ Residue 308
NM_001232.4(CASQ2):c.420+1G>ALikely pathogenic
Catecholaminergic polymorphic ventricular tachycardia 1|Cardiovascular phenotype
β˜…β˜…β˜†β˜†2025
NM_001232.4(CASQ2):c.164A>G (p.Tyr55Cys)Pathogenic
Catecholaminergic polymorphic ventricular tachycardia 2|Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1
β˜…β˜…β˜†β˜†2025β†’ Residue 55
NM_001232.4(CASQ2):c.939+5G>CPathogenic
Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 2
β˜…β˜…β˜†β˜†2025
NM_001232.4(CASQ2):c.606+2T>ALikely pathogenic
Catecholaminergic polymorphic ventricular tachycardia 2|Catecholaminergic polymorphic ventricular tachycardia 1
β˜…β˜…β˜†β˜†2025
NM_001232.4(CASQ2):c.381C>T (p.Gly127=)Pathogenic
Catecholaminergic polymorphic ventricular tachycardia 2|Catecholaminergic polymorphic ventricular tachycardia 1|Cardiovascular phenotype
β˜…β˜…β˜†β˜†2025β†’ Residue 127
NM_001232.4(CASQ2):c.97C>T (p.Arg33Ter)Pathogenic
Catecholaminergic polymorphic ventricular tachycardia 2|not provided|Catecholaminergic polymorphic ventricular tachycardia 1|Long QT syndrome|Catecholaminergic polymorphic ventricular tachycardia 1;Catecholaminergic polymorphic ventricular tachycardia 2|Cardiovascular phenotype
β˜…β˜…β˜†β˜†2025β†’ Residue 33
NM_001232.4(CASQ2):c.1028G>A (p.Trp343Ter)Pathogenic
Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1
β˜…β˜…β˜†β˜†2025β†’ Residue 343
NM_001232.4(CASQ2):c.738-1G>TLikely pathogenic
Catecholaminergic polymorphic ventricular tachycardia 2|Catecholaminergic polymorphic ventricular tachycardia 1
β˜…β˜…β˜†β˜†2025
NM_001232.4(CASQ2):c.974_983del (p.Asp325fs)Pathogenic
Catecholaminergic polymorphic ventricular tachycardia 1|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 325
NM_001232.4(CASQ2):c.261dup (p.Ala88fs)Pathogenic
Cardiovascular phenotype|not provided|Catecholaminergic polymorphic ventricular tachycardia 1
β˜…β˜…β˜†β˜†2025β†’ Residue 88
NM_001232.4(CASQ2):c.115G>T (p.Glu39Ter)Pathogenic
not provided|Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 2
β˜…β˜…β˜†β˜†2025β†’ Residue 39
NM_001232.4(CASQ2):c.576C>A (p.Tyr192Ter)Pathogenic
Catecholaminergic polymorphic ventricular tachycardia 2;Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 2|Cardiovascular phenotype|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 192
NM_001232.4(CASQ2):c.1017dup (p.Asp340Ter)Pathogenic
Catecholaminergic polymorphic ventricular tachycardia 1
β˜…β˜…β˜†β˜†2025β†’ Residue 340
NM_001232.4(CASQ2):c.199C>T (p.Gln67Ter)Pathogenic
Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1
β˜…β˜…β˜†β˜†2024β†’ Residue 67
NM_001232.4(CASQ2):c.98G>A (p.Arg33Gln)Pathogenic
Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 2|Catecholaminergic polymorphic ventricular tachycardia
β˜…β˜…β˜†β˜†2024β†’ Residue 33
NM_001232.4(CASQ2):c.783G>A (p.Trp261Ter)Pathogenic
Catecholaminergic polymorphic ventricular tachycardia 2|Catecholaminergic polymorphic ventricular tachycardia 1|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 261
NM_001232.4(CASQ2):c.715G>T (p.Glu239Ter)Pathogenic
Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 2
β˜…β˜…β˜†β˜†2024β†’ Residue 239
NM_001232.4(CASQ2):c.546del (p.Phe182fs)Pathogenic
Catecholaminergic polymorphic ventricular tachycardia 1|Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 2
β˜…β˜…β˜†β˜†2024β†’ Residue 182
View on ClinVar β†—
Related Genes
ASPHProtein interaction100%RYR1Protein interaction96%CSRP3Protein interaction96%RYR3Protein interaction95%ACTN2Protein interaction92%MYOZ2Protein interaction91%
Tissue Expression6 tissues
Heart
100%
Lung
0%
Brain
0%
Ovary
0%
Liver
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
CASQ2ASPHRYR1CSRP3RYR3ACTN2MYOZ2
PROTEIN STRUCTURE
Preparing viewer…
PDB6OWV Β· 1.88 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.32LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.97 [0.73–1.32]
RankingsWhere CASQ2 stands among ~20K protein-coding genes
  • #5,597of 20,598
    Most Researched85
  • #938of 5,498
    Most Pathogenic Variants79 Β· top quartile
  • #13,884of 17,882
    Most Constrained (LOEUF)1.32
Genes detectedCASQ2
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Gene therapy for cardiac diseases: methods, challenges, and future directions.
PMID: 39302117
Cardiovasc Res Β· 2024
1.00
2
Maturation of human cardiac organoids enables complex disease modeling and drug discovery.
PMID: 40562874
Nat Cardiovasc Res Β· 2025
0.90
3
Interpreting Incidentally Identified Variants in Genes Associated With Catecholaminergic Polymorphic Ventricular Tachycardia in a Large Cohort of Clinical Whole-Exome Genetic Test Referrals.
PMID: 28404607
Circ Arrhythm Electrophysiol Β· 2017
0.80
4
Catecholaminergic polymorphic ventricular tachycardia (and seizure) caused by a novel homozygous likely pathogenic variant in CASQ2 gene.
PMID: 37995796
Gene Β· 2024
0.70
5
Catecholaminergic Polymorphic Ventricular Tachycardia.
PMID: 31934898
Cardiol Rev Β· 2020
0.60