voltage-dependent L-type Ca+2 channel beta-2; CAB2; Ca+2 channel voltage-dependent subunit beta 2; Lambert-Eaton myasthenic syndrome antigen B; MYSB (CACNB2, CACNLB2, MYSB)
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Function
- beta subunit of voltage-dependent Ca+2 channels, L-type Ca+2 channel subunits (1 of 4 subunits: alpha-1, alpha-2, beta & gamma)
- contributes to the function of the Ca+2 channel by increasing peak Ca+2 current, shifting the voltage dependencies of activation & inactivation, modulating G protein inhibition & controlling the alpha-1 subunit membrane targeting
Structure
- belongs to the Ca+2 channel beta subunit family
- contains 1 SH3 domain
Compartment
Alternative splicing
named isoforms=8
Expression
Pathology
- defects in CACNB2 are the cause of Brugada syndrome type 4
- variations in CACNB2 may be associated with:
- autism, ADHD, bipolar disorder, depression, &/or schizophrenia[4] (abstract does not specify which)
More general terms
Additional terms
References
- ↑ Witcher DR, De Waard M, Sakamoto J, Franzini-Armstrong C, Pragnell M, Kahl SD, Campbell KP. Subunit identification and reconstitution of the N-type Ca2+ channel complex purified from brain. Science. 1993 Jul 23;261(5120):486-9. PMID: https://www.ncbi.nlm.nih.gov/pubmed/8392754
- ↑ 2.0 2.1 Castellano A, Wei X, Birnbaumer L, Perez-Reyes E. Cloning and expression of a third calcium channel beta subunit. J Biol Chem. 1993 Feb 15;268(5):3450-5. PMID: https://www.ncbi.nlm.nih.gov/pubmed/7679112
- ↑ 3.0 3.1 UniProt http://www.uniprot.org/uniprot/Q08289.html
- ↑ 4.0 4.1 Cross-Disorder Group of the Psychiatric Genomics Consortium Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis. Lancet, Early Online Publication, 28 February 2013 <PubMed> PMID: https://www.ncbi.nlm.nih.gov/pubmed/23453885 <Internet> http://www.thelancet.com/journals/lancet/article/PIIS0140-6736(12)62129-1/abstract