CACNB2 iso2 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: 17q12.3
Cellular Component:  voltage-gated calcium channel complex
Molecular Function:  actin filament binding; calcium channel regulator activity; high voltage-gated calcium channel activity; phosphoprotein binding; protein binding; protein domain specific binding; protein kinase binding; voltage-gated calcium channel activity
Biological Process:  calcium ion transport; neuromuscular junction development; positive regulation of calcium ion transport; synaptic transmission; visual perception
Reference #:  Q8VGC3-2 (UniProtKB)
Alt. Names/Synonyms: CAB2; CACB2; Cacnb2; Cacnlb2; Calcium channel voltage-dependent subunit beta 2; calcium channel, voltage-dependent, beta 2 subunit; Voltage-dependent L-type calcium channel subunit beta-2
Gene Symbols: Cacnb2
Molecular weight: 68,175 Da
Basal Isoelectric point: 8.88  Predict pI for various phosphorylation states
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CACNB2 iso2

Protein Structure Not Found.


Cross-references to other databases:  Pfam  |  UniProtKB  |  Entrez-Gene  |  Ensembl Gene