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MGP000387

UniProt Annotations

Entry Information
Gene Namecalcium channel, voltage-dependent, beta 2 subunit
Protein Entry
UniProt ID
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=10; Name=2d; Synonyms=CACNB2d; IsoId=Q08289-1; Sequence=Displayed; Name=2a; Synonyms=CACNB2a; IsoId=Q08289-2; Sequence=VSP_000627; Name=2b; Synonyms=CACNB2b, 2aN4; IsoId=Q08289-3; Sequence=VSP_000628; Name=2c; Synonyms=CACNB2c, 2aN2; IsoId=Q08289-4; Sequence=VSP_000626; Name=2e; Synonyms=CACNB2e; IsoId=Q08289-5; Sequence=VSP_000629; Name=2f; IsoId=Q08289-6; Sequence=VSP_000627, VSP_000630; Name=2g; IsoId=Q08289-7; Sequence=VSP_000630; Name=2h; Synonyms=2cN1; IsoId=Q08289-8; Sequence=VSP_000631; Name=2cN2; IsoId=Q08289-9; Sequence=VSP_000626, VSP_000631; Name=2cN4; IsoId=Q08289-10; Sequence=VSP_000628, VSP_000631;
DiseaseBrugada syndrome 4 (BRGDA4) [MIM:611876]: 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. {ECO:0000269|PubMed:17224476}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionThe 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.
PtmRegulated through phosphorylation at Thr-554 by CaMK2D. {ECO:0000250}.
Sequence CautionSequence=AAB51370.1; Type=Frameshift; Positions=515; Evidence={ECO:0000305};
SimilarityBelongs to the calcium channel beta subunit family. {ECO:0000305}.
SimilarityContains 1 SH3 domain. {ECO:0000255|PROSITE- ProRule:PRU00192}.
Subcellular LocationCell membrane, sarcolemma {ECO:0000250}; Peripheral membrane protein {ECO:0000250}; Cytoplasmic side {ECO:0000250}.
SubunitThe L-type calcium channel is composed of four subunits: alpha-1, alpha-2, beta and gamma. Interacts with CAMK2D (By similarity). Interacts with RRAD. Interaction with RRAD regulates the trafficking of CACNA1C to the cell membrane. Interacts with TMIGD2. {ECO:0000250, ECO:0000269|PubMed:17525370, ECO:0000269|PubMed:22419821}.
Tissue SpecificityExpressed in all tissues.
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