ID:CASQ2_HUMAN DESCRIPTION: RecName: Full=Calsequestrin-2; AltName: Full=Calsequestrin, cardiac muscle isoform; Flags: Precursor; FUNCTION: 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. SUBUNIT: Monomer, homodimer and homooligomer. Mostly monomeric in the absence of calcium. Forms higher oligomers in a calcium- dependent manner. Dimers associate to form tetramers, that then form linear homopolymer chains. SUBCELLULAR LOCATION: Sarcoplasmic reticulum lumen. Note=This isoform of calsequestrin occurs in the sarcoplasmic reticulum's terminal cisternae luminal spaces of cardiac and slow skeletal muscle cells. PTM: Phosphorylation in the C-terminus, probably by CK2, moderately increases calcium buffering capacity. DISEASE: Defects in CASQ2 are the cause of catecholaminergic polymorphic ventricular tachycardia type 2 (CPVT2) [MIM:611938]; 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. SIMILARITY: Belongs to the calsequestrin family. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CASQ2"; WEB RESOURCE: Name=Wikipedia; Note=Calsequestrin entry; URL="http://en.wikipedia.org/wiki/Calsequestrin";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on O14958
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0002027 regulation of heart rate GO:0005513 detection of calcium ion 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:0034220 ion transmembrane transport GO:0043267 negative regulation of potassium ion transport GO:0045214 sarcomere organization GO:0051208 sequestering of calcium ion GO:0051258 protein polymerization 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
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
