Entity Details

Primary name CASQ2_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionO14958
EntryNameCASQ2_HUMAN
FullNameCalsequestrin-2
TaxID9606
Evidenceevidence at protein level
Length399
SequenceStatuscomplete
DateCreated1999-07-15
DateModified2021-06-02

Ontological Relatives

GenesCASQ2

GO terms

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GOName
GO:0002027 regulation of heart rate
GO:0005509 calcium ion binding
GO:0005513 detection of calcium ion
GO:0005737 cytoplasm
GO:0006941 striated muscle contraction
GO:0010649 regulation of cell communication by electrical coupling
GO:0010880 regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum
GO:0010881 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion
GO:0014701 junctional sarcoplasmic reticulum membrane
GO:0016529 sarcoplasmic reticulum
GO:0030018 Z disc
GO:0033017 sarcoplasmic reticulum membrane
GO:0033018 sarcoplasmic reticulum lumen
GO:0034220 ion transmembrane transport
GO:0034704 calcium channel complex
GO:0042803 protein homodimerization activity
GO:0043267 negative regulation of potassium ion transport
GO:0048306 calcium-dependent protein binding
GO:0051208 sequestering of calcium ion
GO:0051258 protein polymerization
GO:0051279 regulation of release of sequestered calcium ion into cytosol
GO:0060048 cardiac muscle contraction
GO:0060306 regulation of membrane repolarization
GO:0060315 negative regulation of ryanodine-sensitive calcium-release channel activity
GO:0071313 cellular response to caffeine
GO:0086029 Purkinje myocyte to ventricular cardiac muscle cell signaling
GO:1901017 negative regulation of potassium ion transmembrane transporter activity
GO:1903779 regulation of cardiac conduction

Subcellular Location

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Subcellular Location
Sarcoplasmic reticulum lumen

Domains

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DomainNameCategoryType
IPR001393 CalsequestrinFamilyFamily
IPR018233 Calsequestrin, conserved siteSiteConserved site
IPR036249 Thioredoxin-like superfamilyFamilyHomologous superfamily
IPR041858 Calsequestrin, middle TRX-fold domainDomainDomain
IPR041859 Calsequestrin, N-terminal TRX-fold domainDomainDomain
IPR041860 Calsequestrin, C-terminal TRX-fold domainDomainDomain

Diseases

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Disease IDSourceNameDescription
611938 OMIMVentricular tachycardia, catecholaminergic polymorphic, 2 (CPVT2)An arrhythmogenic disorder characterized by stress-induced, bidirectional ventricular tachycardia that may degenerate into cardiac arrest and cause sudden death. Patients present with recurrent syncope, seizures, or sudden death after physical activity or emotional stress. CPVT2 inheritance is autosomal recessive. The disease is caused by variants affecting the gene represented in this entry.

Drugs

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DrugNameSourceType
DB11093 Calcium citrateDrugbanksmall molecule
DB11348 Calcium PhosphateDrugbanksmall molecule
DB14481 Calcium phosphate dihydrateDrugbanksmall molecule