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Cell lines sorted after organ of phenotypic resemblance.
Cell lines sorted after biological source for establishment.
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GENE INFORMATION
Gene name
CASQ2 (HGNC Symbol)
Synonyms
PDIB2
Description
Calsequestrin 2 (cardiac muscle) (HGNC Symbol)
Entrez gene summary
The protein encoded by this gene specifies the cardiac muscle family member of the calsequestrin family. Calsequestrin is localized to the sarcoplasmic reticulum in cardiac and slow skeletal muscle cells. The protein is a calcium binding protein that stores calcium for muscle function. Mutations in this gene cause stress-induced polymorphic ventricular tachycardia, also referred to as catecholaminergic polymorphic ventricular tachycardia 2 (CPVT2), a disease characterized by bidirectional ventricular tachycardia that may lead to cardiac arrest. [provided by RefSeq, Jul 2008]
Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0002027 [regulation of heart rate] GO:0005509 [calcium ion binding] GO:0005513 [detection of calcium ion] GO:0005515 [protein binding] GO:0005622 [intracellular] GO:0005737 [cytoplasm] GO:0005891 [voltage-gated calcium channel complex] 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:0030314 [junctional membrane complex] 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:0045214 [sarcomere organization] GO:0048306 [calcium-dependent protein binding] GO:0051208 [sequestering of calcium ion] GO:0051258 [protein polymerization] GO:0055085 [transmembrane transport] 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]
