CACNB2

CACNB2 (Calcium Voltage-Gated Channel Auxiliary Subunit Beta 2) is a Protein Coding gene. Diseases associated with CACNB2 include Brugada Syndrome 4 and Brugada Syndrome. Among its related pathways are Cardiac conduction and NFAT and Cardiac Hypertrophy. Gene Ontology (GO) annotations related to this gene include calcium channel activity and high voltage-gated calcium channel activity. An important paralog of this gene is CACNB1.

Full Name

Calcium Voltage-Gated Channel Auxiliary Subunit Beta 2

Function

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.

Biological Process

Calcium ion import Source: BHF-UCL
Cardiac conduction Source: Reactome
Chemical synaptic transmission Source: GO_Central
Membrane depolarization during atrial cardiac muscle cell action potential Source: BHF-UCL
Membrane depolarization during AV node cell action potential Source: BHF-UCL
Neuromuscular junction development Source: GO_Central
Positive regulation of calcium ion transmembrane transport via high voltage-gated calcium channel Source: BHF-UCL
Positive regulation of calcium ion transport Source: BHF-UCL
Positive regulation of high voltage-gated calcium channel activity Source: BHF-UCL
Protein localization to plasma membrane Source: BHF-UCL
Regulation of heart rate by cardiac conduction Source: BHF-UCL
Regulation of voltage-gated calcium channel activity Source: GO_Central
Visual perception Source: Ensembl

Cellular Location

Sarcolemma

Involvement in disease

Brugada syndrome 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, the individual will faint and may die in a few minutes if the heart is not reset.

PTM

Regulated through phosphorylation at Thr-554 by CaMK2D.