calsequestrin 2 Calsequestrin is a high-capacity, moderate affinity, calcium-binding protein and thus acts as an internal calcium store in muscle. The release of calcium bound to calsequestrin through a calcium release channel triggers muscle contraction. The skeletal muscle isoform (CASQ1) binds around 80 Ca(2+) ions, while the cardiac isoform (CASQ2) binds approximately 60 Ca(2+) ions. Defects in CASQ2 are the cause of catecholaminergic polymorphic ventricular tachycardia type 2 (CPVT2); also known as stress-induced polymorphic ventricular tachycardia (VTSIP). CPVT2 is an autosomal recessive form of arrhythmogenic disorder characterized by stress-induced, bidirectional ventricular tachycardia that may degenerate into cardiac arrest and cause sudden death. Belongs to the calsequestrin family. Note: This description may include information from UniProtKB.
Protein type: Calcium-binding
Chromosomal Location of Human Ortholog: 1p13.1
Cellular Component:  calcium channel complex; cytoplasm; junctional membrane complex; junctional sarcoplasmic reticulum membrane; sarcoplasmic reticulum; sarcoplasmic reticulum lumen; sarcoplasmic reticulum membrane; Z disc
Molecular Function:  calcium ion binding; calcium-dependent protein binding; protein binding; protein homodimerization activity
Biological Process:  cardiac muscle contraction; cellular response to caffeine; detection of calcium ion; ion transmembrane transport; negative regulation of potassium ion transmembrane transporter activity; negative regulation of potassium ion transport; negative regulation of ryanodine-sensitive calcium-release channel activity; protein polymerization; Purkinje myocyte to ventricular cardiac muscle cell signaling; regulation of cardiac conduction; regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion; regulation of cell communication by electrical coupling; regulation of heart rate; regulation of membrane repolarization; regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum; sarcomere organization; sequestering of calcium ion; striated muscle contraction
Disease: Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/or Dilated Cardiomyopathy; Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Reference #:  O14958 (UniProtKB)
Alt. Names/Synonyms: calsequestrin 2 (cardiac muscle); calsequestrin 2, fast-twitch, cardiac muscle; Calsequestrin, cardiac muscle isoform; Calsequestrin-2; CASQ2; FLJ26321; FLJ93514; PDIB2
Gene Symbols: CASQ2
Molecular weight: 46,436 Da
Basal Isoelectric point: 4.22  Predict pI for various phosphorylation states
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calsequestrin 2

Protein Structure Not Found.

Cross-references to other databases:  STRING  |  cBioPortal  |  Wikipedia  |  neXtProt  |  Protein Atlas  |  BioGPS  |  Pfam  |  RCSB PDB  |  Phospho3D  |  Phospho.ELM  |  NetworKIN  |  GeneCards  |  UniProtKB  |  Entrez-Gene  |  GenPept  |  Ensembl Gene