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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)

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: - cell membrane, sarcolemma - peripheral membrane protein; cytoplasmic side (putative) Alternative splicing: named isoforms=8 Expression: - expressed in all tissues [3] - expressed in heart & brain [2] 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)

Related

anti-MysB antibody Lambert-Eaton myasthenic syndrome (LEMS) voltage-dependent Ca+2 channel

General

voltage-dependent Ca+2 channel beta

Properties

SIZE: entity length = 660 aa MW = 74 kD COMPARTMENT: cytoplasm MOTIF: src homology 3 [SH3] domain SITE: 114-183 membrane region

Database Correlations

OMIM correlations UniProt Q08289 PFAM correlations Entrez Gene 783

References

  1. 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: 8392754
  2. 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: 7679112
  3. UniProt :accession Q08289
  4. 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 PMID: 23453885 http://www.thelancet.com/journals/lancet/article/PIIS0140-6736(12)62129-1/abstract