CACNB2 The beta subunit of voltage-dependent calcium channels contributes to the function of the calcium channel by increasing peak calcium current, shifting the voltage dependencies of activation and inactivation, modulating G protein inhibition and controlling the alpha-1 subunit membrane targeting. Defects in CACNB2 are the cause of Brugada syndrome type 4 (BRGDA4). A heart disease characterized by the association of Brugada syndrome with shortened QT intervals. Brugada syndrome is a tachyarrhythmia characterized by right bundle branch block and ST segment elevation on an electrocardiogram (ECG). It can cause the ventricles to beat so fast that the blood is prevented from circulating efficiently in the body. When this situation occurs (called ventricular fibrillation), the individual will faint and may die in a few minutes if the heart is not reset. Belongs to the calcium channel beta subunit family. 8 isoforms of the human protein are produced by alternative splicing. Note: This description may include information from UniProtKB.
Protein type: Channel, calcium
Chromosomal Location of Human Ortholog: 10p12.33-p12.31
Cellular Component:  integral component of plasma membrane; L-type voltage-gated calcium channel complex; photoreceptor ribbon synapse; plasma membrane; presynapse; voltage-gated calcium channel complex
Molecular Function:  actin filament binding; calcium channel activity; protein binding; voltage-gated calcium channel activity; voltage-gated calcium channel activity involved in positive regulation of presynaptic cytosolic calcium levels
Biological Process:  calcium ion import; calcium ion transmembrane transport; cardiac conduction; induction of synaptic vesicle exocytosis by positive regulation of presynaptic cytosolic calcium ion concentration; membrane depolarization during atrial cardiac muscle cell action potential; membrane depolarization during AV node cell action potential; positive regulation of calcium ion transmembrane transport via high voltage-gated calcium channel; positive regulation of calcium ion transport; positive regulation of high voltage-gated calcium channel activity; protein localization to plasma membrane; regulation of heart rate by cardiac conduction; visual perception
Disease: Brugada Syndrome 4
Reference #:  Q08289 (UniProtKB)
Alt. Names/Synonyms: CAB2; CACB2; CACNB2; CACNLB2; Calcium channel voltage-dependent subunit beta 2; calcium channel, voltage-dependent, beta 2 subunit; CAVB2; FLJ23743; Lambert-Eaton myasthenic syndrome antigen B; myasthenic (Lambert-Eaton) syndrome antigen B; MYSB; Voltage-dependent L-type calcium channel subunit beta-2
Gene Symbols: CACNB2
Molecular weight: 73,581 Da
Basal Isoelectric point: 8.11  Predict pI for various phosphorylation states
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Protein Structure Not Found.

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