CACNB2 explained

Voltage-dependent L-type calcium channel subunit beta-2 is a protein that in humans is encoded by the CACNB2 gene.^{[1] [2] [3]}

Clinical significance

Mutation in the CACNB2 gene are associated with Brugada syndrome, autism, attention deficit-hyperactivity disorder (ADHD), bipolar disorder, major depressive disorder, and schizophrenia.^[4]

See also

• Voltage-dependent calcium channel

Further reading

• Williams ME . Structure and functional expression of alpha 1, alpha 2, and beta subunits of a novel human neuronal calcium channel subtype . Neuron . 8 . 1 . 71–84 . 1992 . 1309651 . 10.1016/0896-6273(92)90109-Q . vanc. Feldman DH . McCue AF . 3 . Brenner . Robert . Velicelebi . Gonul . Ellis . Steven B. . Harpold . Michael M. . 39341712 .
• Brust PF . Human neuronal voltage-dependent calcium channels: studies on subunit structure and role in channel assembly . Neuropharmacology . 32 . 11 . 1089–102 . 1994 . 8107964 . 10.1016/0028-3908(93)90004-M . vanc. Simerson S . McCue AF . 3 . Deal . Charles R. . Schoonmaker . Susan . Williams . Mark E. . Veliçelebi . Gönül . Johnson . Edwin C. . Harpold . Michael M. . 33257989 .
• Hillier LD . Generation and analysis of 280,000 human expressed sequence tags . Genome Res. . 6 . 9 . 807–28 . 1997 . 8889549 . 10.1101/gr.6.9.807 . vanc. Lennon G . Becker M . 3 . Bonaldo . M F . Chiapelli . B . Chissoe . S . Dietrich . N . Dubuque . T . Favello . A . free .
• Volsen SG . The expression of voltage-dependent calcium channel beta subunits in human cerebellum . Neuroscience . 80 . 1 . 161–74 . 1997 . 9252229 . 10.1016/S0306-4522(97)00115-2 . vanc. Day NC . McCormack AL . 3 . Smith . W . Craig . PJ . Beattie . RE . Smith . D . Ince . PG . Shaw . PJ . 27406120 .
• Robertson HM, Zumpano KL . Molecular evolution of an ancient mariner transposon, Hsmar1, in the human genome . Gene . 205 . 1–2 . 203–17 . 1998 . 9461395 . 10.1016/S0378-1119(97)00472-1 .
• Allen TJ, Mikala G . Effects of temperature on human L-type cardiac Ca2+ channels expressed in Xenopus oocytes . Pflügers Arch. . 436 . 2 . 238–47 . 1998 . 9594024 . 10.1007/s004240050628 . 7075998 .
• Day NC . The expression of voltage-dependent calcium channel beta subunits in human hippocampus . Brain Res. Mol. Brain Res. . 60 . 2 . 259–69 . 1998 . 9757060 . 10.1016/S0169-328X(98)00186-7 . vanc. Volsen SG . McCormack AL . 3 . Craig . PJ . Smith . W . Beattie . RE . Shaw . PJ . Ellis . SB . Harpold . MM .
• Brice NL, Dolphin AC . Differential plasma membrane targeting of voltage-dependent calcium channel subunits expressed in a polarized epithelial cell line . J. Physiol. . 515 . 3. 685–94 . 1999 . 10066897 . 10.1111/j.1469-7793.1999.685ab.x . 2269176 .
• Gerhardstein BL, Puri TS, Chien AJ, Hosey MM . Identification of the sites phosphorylated by cyclic AMP-dependent protein kinase on the beta 2 subunit of L-type voltage-dependent calcium channels . Biochemistry . 38 . 32 . 10361–70 . 1999 . 10441130 . 10.1021/bi990896o .
• Lie AA . Distribution of voltage-dependent calcium channel beta subunits in the hippocampus of patients with temporal lobe epilepsy . Neuroscience . 93 . 2 . 449–56 . 1999 . 10465427 . 10.1016/S0306-4522(99)00162-1 . vanc. Blümcke I . Volsen SG . 3 . Wiestler . OD . Elger . CE . Beck . H . 12890647 .
• Bünemann M, Gerhardstein BL, Gao T, Hosey MM . Functional regulation of L-type calcium channels via protein kinase A-mediated phosphorylation of the beta(2) subunit . J. Biol. Chem. . 274 . 48 . 33851–4 . 1999 . 10567342 . 10.1074/jbc.274.48.33851 . free .
• Yamaguchi H . Cloning of the beta(2a) subunit of the voltage-dependent calcium channel from human heart: cooperative effect of alpha(2)/delta and beta(2a) on the membrane expression of the alpha(1C) subunit . Biochem. Biophys. Res. Commun. . 267 . 1 . 156–63 . 2000 . 10623591 . 10.1006/bbrc.1999.1926 . vanc. Okuda M . Mikala G . 3 . Fukasawa . K . Varadi . G .
• Colecraft HM . Novel functional properties of Ca2+ channel β subunits revealed by their expression in adult rat heart cells . J. Physiol. . 541 . Pt 2 . 435–52 . 2002 . 12042350 . 10.1113/jphysiol.2002.018515 . 2290333 . vanc. Alseikhan B . Takahashi SX . 3 . Chaudhuri . D. . Mittman . S. . Yegnasubramanian . V. . Alvania . R. S . Johns . D. C . Marban . E. .
• Takahashi SX, Mittman S, Colecraft HM . Distinctive Modulatory Effects of Five Human Auxiliary β2 Subunit Splice Variants on L-Type Calcium Channel Gating . Biophys. J. . 84 . 5 . 3007–21 . 2004 . 12719232 . 10.1016/S0006-3495(03)70027-7 . 1302863 .
• Finlin BS, Crump SM, Satin J, Andres DA . Regulation of voltage-gated calcium channel activity by the Rem and Rad GTPases . Proc. Natl. Acad. Sci. U.S.A. . 100 . 24 . 14469–74 . 2004 . 14623965 . 10.1073/pnas.2437756100 . 283615 . free .
• Ota T . Complete sequencing and characterization of 21,243 full-length human cDNAs . Nat. Genet. . 36 . 1 . 40–5 . 2004 . 14702039 . 10.1038/ng1285 . vanc. Suzuki Y . Nishikawa T . 3 . Otsuki . Tetsuji . Sugiyama . Tomoyasu . Irie . Ryotaro . Wakamatsu . Ai . Hayashi . Koji . Sato . Hiroyuki . free .
• Foell JD . Molecular heterogeneity of calcium channel beta-subunits in canine and human heart: evidence for differential subcellular localization . Physiol. Genomics . 17 . 2 . 183–200 . 2004 . 14762176 . 10.1152/physiolgenomics.00207.2003 . vanc. Balijepalli RC . Delisle BP . 3 . Yunker . AM . Robia . SL . Walker . JW . McEnery . MW . January . CT . Kamp . TJ . 38889757 .
• Harry JB, Kobrinsky E, Abernethy DR, Soldatov NM . New short splice variants of the human cardiac Cavbeta2 subunit: redefining the major functional motifs implemented in modulation of the Cav1.2 channel . J. Biol. Chem. . 279 . 45 . 46367–72 . 2004 . 15339916 . 10.1074/jbc.M409523200 . free .

External links

• GeneReviews/NIH/NCBI/UW entry on Brugada syndrome

Notes and References

1. Taviaux S, Williams ME, Harpold MM, Nargeot J, Lory P . Assignment of human genes for beta 2 and beta 4 subunits of voltage-dependent Ca2+ channels to chromosomes 10p12 and 2q22-q23 . Hum Genet . 100 . 2 . 151–4 . Sep 1997 . 9254841 . 10.1007/PL00008704 . 5689556 .
2. Rosenfeld MR, Wong E, Dalmau J, Manley G, Posner JB, Sher E, Furneaux HM . Cloning and characterization of a Lambert-Eaton myasthenic syndrome antigen . Ann Neurol . 33 . 1 . 113–20 . Jun 1993 . 8494331 . 10.1002/ana.410330126 . 24241609 .
3. Web site: Entrez Gene: CACNB2 calcium channel, voltage-dependent, beta 2 subunit.
4. Identification of risk loci with shared effects on five major psychiatric disorders: A genome-wide analysis . 10.1016/S0140-6736(12)62129-1 . The Lancet . 2013 . 23453885. 3714010. 381. 9875. 1371–9. Cross-Disorder Group of the Psychiatric Genomics Consortium .