Entity Details

Primary name CACNB2
Entity type gene
Source Source Link

Details

PrimaryID783
RefseqGeneNG_016195
SymbolCACNB2
Namecalcium voltage-gated channel auxiliary subunit beta 2
Chromosome10
Location10p12.33-p12.31
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1998-05-21
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsCACB2_HUMAN

GO terms

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GOName
GO:0005245 voltage-gated calcium channel activity
GO:0005262 calcium channel activity
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0005891 voltage-gated calcium channel complex
GO:0007268 chemical synaptic transmission
GO:0007528 neuromuscular junction development
GO:0007601 visual perception
GO:0051015 actin filament binding
GO:0051928 positive regulation of calcium ion transport
GO:0061337 cardiac conduction
GO:0070509 calcium ion import
GO:0072659 protein localization to plasma membrane
GO:0086045 membrane depolarization during AV node cell action potential
GO:0086091 regulation of heart rate by cardiac conduction
GO:0098684 photoreceptor ribbon synapse
GO:0098793 presynapse
GO:0098912 membrane depolarization during atrial cardiac muscle cell action potential
GO:0099635 voltage-gated calcium channel activity involved in positive regulation of presynaptic cytosolic calcium levels
GO:1901385 regulation of voltage-gated calcium channel activity
GO:1901843 positive regulation of high voltage-gated calcium channel activity
GO:1904879 positive regulation of calcium ion transmembrane transport via high voltage-gated calcium channel
GO:1990454 L-type voltage-gated calcium channel complex

Diseases

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Disease IDSourceNameDescription
611876 OMIMBrugada 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. The gene represented in this entry may be involved in disease pathogenesis.

Interactions

12 interactions