Homo sapiens Protein: CACNB2 | |||||||||||||||||||||||
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Summary | |||||||||||||||||||||||
InnateDB Protein | IDBP-237181.7 | ||||||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||||||
Gene Symbol | CACNB2 | ||||||||||||||||||||||
Protein Name | calcium channel, voltage-dependent, beta 2 subunit | ||||||||||||||||||||||
Synonyms | CACNLB2; CAVB2; MYSB; | ||||||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||||||
Ensembl Protein | ENSP00000379821 | ||||||||||||||||||||||
InnateDB Gene | IDBG-59692 (CACNB2) | ||||||||||||||||||||||
Protein Structure | |||||||||||||||||||||||
UniProt Annotation | |||||||||||||||||||||||
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. | ||||||||||||||||||||||
Subcellular Localization | Cell membrane, sarcolemma {ECO:0000250}; Peripheral membrane protein {ECO:0000250}; Cytoplasmic side {ECO:0000250}. | ||||||||||||||||||||||
Disease Associations | Brugada 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:0000269PubMed:17224476}. Note=The disease is caused by mutations affecting the gene represented in this entry. | ||||||||||||||||||||||
Tissue Specificity | Expressed in all tissues. | ||||||||||||||||||||||
Comments | |||||||||||||||||||||||
Interactions | |||||||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.
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Gene Ontology | |||||||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Protein Structure and Domains | |||||||||||||||||||||||
PDB ID | |||||||||||||||||||||||
InterPro |
IPR000584
Voltage-dependent calcium channel, L-type, beta subunit IPR001452 SH3 domain IPR005444 Voltage-dependent calcium channel, L-type, beta-2 subunit IPR008145 Guanylate kinase/L-type calcium channel beta subunit IPR027417 P-loop containing nucleoside triphosphate hydrolase |
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PFAM |
PF12052
PF00018 PF14604 PF00625 |
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PRINTS |
PR01626
PR00452 PR01628 |
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PIRSF | |||||||||||||||||||||||
SMART |
SM00326
SM00072 |
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TIGRFAMs | |||||||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||||||
Modification | |||||||||||||||||||||||
Cross-References | |||||||||||||||||||||||
SwissProt | Q08289 | ||||||||||||||||||||||
PhosphoSite | PhosphoSite-Q08289 | ||||||||||||||||||||||
TrEMBL | Q59H42 | ||||||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||||||
Entrez Gene | 783 | ||||||||||||||||||||||
UniGene | Hs.59093 | ||||||||||||||||||||||
RefSeq | NP_000715 | ||||||||||||||||||||||
HUGO | HGNC:1402 | ||||||||||||||||||||||
OMIM | 600003 | ||||||||||||||||||||||
CCDS | CCDS7128 | ||||||||||||||||||||||
HPRD | 02473 | ||||||||||||||||||||||
IMGT | |||||||||||||||||||||||
EMBL | AB208917 AF137376 AF137377 AF285239 AF423189 AF423190 AF423191 AF423192 AF465485 AL139814 AL353603 AL360231 AL390783 AL450364 AL450384 AY027893 AY027894 AY027895 AY027896 AY027897 AY027898 AY393858 AY393859 AY393860 AY393861 AY393862 BC136409 CH471072 S60415 U95019 | ||||||||||||||||||||||
GenPept | AAB51370 AAB53332 AAD33729 AAD33730 AAG01473 AAI36410 AAK16994 AAL16948 AAL16949 AAL16950 AAL16951 AAL73495 AAQ97606 AAQ97607 AAQ97608 AAQ97609 AAQ97610 BAD92154 CAH70065 CAH70066 CAH70125 CAH70126 CAH71350 CAH71351 CAH71352 CAH71353 CAH73207 CAH73208 CAH73209 CAH73210 CAI14732 CAI14733 CAI14734 CAI14735 CAO03475 CAO03513 CAO03515 CAO03516 CAO03603 CAO03605 CAO03606 CAO03634 CAO03636 CAO03637 CAO03672 CAO03674 EAW86196 EAW86197 | ||||||||||||||||||||||