CACNB2
{{Short description|Protein-coding gene in humans}}
{{Infobox_gene}}
Voltage-dependent L-type calcium channel subunit beta-2 is a protein that in humans is encoded by the CACNB2 gene.{{cite journal | vauthors = Taviaux S, Williams ME, Harpold MM, Nargeot J, Lory P | title = Assignment of human genes for beta 2 and beta 4 subunits of voltage-dependent Ca2+ channels to chromosomes 10p12 and 2q22-q23 | journal = Hum Genet | volume = 100 | issue = 2 | pages = 151–4 |date=Sep 1997 | pmid = 9254841 | doi =10.1007/PL00008704 | s2cid = 5689556 }}{{cite journal | vauthors = Rosenfeld MR, Wong E, Dalmau J, Manley G, Posner JB, Sher E, Furneaux HM | title = Cloning and characterization of a Lambert-Eaton myasthenic syndrome antigen | journal = Ann Neurol | volume = 33 | issue = 1 | pages = 113–20 |date=Jun 1993 | pmid = 8494331 | doi = 10.1002/ana.410330126 | s2cid = 24241609 }}{{cite web | title = Entrez Gene: CACNB2 calcium channel, voltage-dependent, beta 2 subunit| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=783}}
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.{{Cite journal | title = Identification of risk loci with shared effects on five major psychiatric disorders: A genome-wide analysis | doi = 10.1016/S0140-6736(12)62129-1 | journal = The Lancet | year = 2013 | pmid = 23453885| pmc = 3714010| volume=381| issue=9875| pages=1371–9| author1 = Cross-Disorder Group of the Psychiatric Genomics Consortium }}
See also
References
{{reflist}}
Further reading
{{refbegin | 2}}
- {{cite journal | author=Williams ME |title=Structure and functional expression of alpha 1, alpha 2, and beta subunits of a novel human neuronal calcium channel subtype |journal=Neuron |volume=8 |issue= 1 |pages= 71–84 |year= 1992 |pmid= 1309651 |doi=10.1016/0896-6273(92)90109-Q |name-list-style=vanc| author2=Feldman DH | author3=McCue AF | display-authors=3 | last4=Brenner | first4=Robert | last5=Velicelebi | first5=Gonul | last6=Ellis | first6=Steven B. | last7=Harpold | first7=Michael M. |s2cid=39341712 }}
- {{cite journal | author=Brust PF |title=Human neuronal voltage-dependent calcium channels: studies on subunit structure and role in channel assembly |journal=Neuropharmacology |volume=32 |issue= 11 |pages= 1089–102 |year= 1994 |pmid= 8107964 |doi=10.1016/0028-3908(93)90004-M |name-list-style=vanc| author2=Simerson S | author3=McCue AF | display-authors=3 | last4=Deal | first4=Charles R. | last5=Schoonmaker | first5=Susan | last6=Williams | first6=Mark E. | last7=Veliçelebi | first7=Gönül | last8=Johnson | first8=Edwin C. | last9=Harpold | first9=Michael M. |s2cid=33257989 }}
- {{cite journal | author=Hillier LD |title=Generation and analysis of 280,000 human expressed sequence tags |journal=Genome Res. |volume=6 |issue= 9 |pages= 807–28 |year= 1997 |pmid= 8889549 |doi=10.1101/gr.6.9.807 |name-list-style=vanc| author2=Lennon G | author3=Becker M | display-authors=3 | last4=Bonaldo | first4=M F | last5=Chiapelli | first5=B | last6=Chissoe | first6=S | last7=Dietrich | first7=N | last8=Dubuque | first8=T | last9=Favello | first9=A | doi-access=free }}
- {{cite journal | author=Volsen SG |title=The expression of voltage-dependent calcium channel beta subunits in human cerebellum |journal=Neuroscience |volume=80 |issue= 1 |pages= 161–74 |year= 1997 |pmid= 9252229 |doi=10.1016/S0306-4522(97)00115-2 |name-list-style=vanc| author2=Day NC | author3=McCormack AL | display-authors=3 | last4=Smith | first4=W | last5=Craig | first5=PJ | last6=Beattie | first6=RE | last7=Smith | first7=D | last8=Ince | first8=PG | last9=Shaw | first9=PJ |s2cid=27406120 }}
- {{cite journal | vauthors=Robertson HM, Zumpano KL |title=Molecular evolution of an ancient mariner transposon, Hsmar1, in the human genome |journal=Gene |volume=205 |issue= 1–2 |pages= 203–17 |year= 1998 |pmid= 9461395 |doi=10.1016/S0378-1119(97)00472-1 }}
- {{cite journal | vauthors=Allen TJ, Mikala G |title=Effects of temperature on human L-type cardiac Ca2+ channels expressed in Xenopus oocytes |journal=Pflügers Arch. |volume=436 |issue= 2 |pages= 238–47 |year= 1998 |pmid= 9594024 |doi=10.1007/s004240050628 |s2cid=7075998 }}
- {{cite journal | author=Day NC |title=The expression of voltage-dependent calcium channel beta subunits in human hippocampus |journal=Brain Res. Mol. Brain Res. |volume=60 |issue= 2 |pages= 259–69 |year= 1998 |pmid= 9757060 |doi=10.1016/S0169-328X(98)00186-7 |name-list-style=vanc| author2=Volsen SG | author3=McCormack AL | display-authors=3 | last4=Craig | first4=PJ | last5=Smith | first5=W | last6=Beattie | first6=RE | last7=Shaw | first7=PJ | last8=Ellis | first8=SB | last9=Harpold | first9=MM }}
- {{cite journal | vauthors=Brice NL, Dolphin AC |title=Differential plasma membrane targeting of voltage-dependent calcium channel subunits expressed in a polarized epithelial cell line |journal=J. Physiol. |volume=515 |issue= 3|pages= 685–94 |year= 1999 |pmid= 10066897 |doi=10.1111/j.1469-7793.1999.685ab.x | pmc=2269176 }}
- {{cite journal | vauthors=Gerhardstein BL, Puri TS, Chien AJ, Hosey MM |title=Identification of the sites phosphorylated by cyclic AMP-dependent protein kinase on the beta 2 subunit of L-type voltage-dependent calcium channels |journal=Biochemistry |volume=38 |issue= 32 |pages= 10361–70 |year= 1999 |pmid= 10441130 |doi= 10.1021/bi990896o }}
- {{cite journal | author=Lie AA |title=Distribution of voltage-dependent calcium channel beta subunits in the hippocampus of patients with temporal lobe epilepsy |journal=Neuroscience |volume=93 |issue= 2 |pages= 449–56 |year= 1999 |pmid= 10465427 |doi=10.1016/S0306-4522(99)00162-1 |name-list-style=vanc| author2=Blümcke I | author3=Volsen SG | display-authors=3 | last4=Wiestler | first4=OD | last5=Elger | first5=CE | last6=Beck | first6=H |s2cid=12890647 }}
- {{cite journal | vauthors=Bünemann M, Gerhardstein BL, Gao T, Hosey MM |title=Functional regulation of L-type calcium channels via protein kinase A-mediated phosphorylation of the beta(2) subunit |journal=J. Biol. Chem. |volume=274 |issue= 48 |pages= 33851–4 |year= 1999 |pmid= 10567342 |doi=10.1074/jbc.274.48.33851 |doi-access=free }}
- {{cite journal | author=Yamaguchi H |title=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 |journal=Biochem. Biophys. Res. Commun. |volume=267 |issue= 1 |pages= 156–63 |year= 2000 |pmid= 10623591 |doi= 10.1006/bbrc.1999.1926 |name-list-style=vanc| author2=Okuda M | author3=Mikala G | display-authors=3 | last4=Fukasawa | first4=K | last5=Varadi | first5=G }}
- {{cite journal | author=Colecraft HM |title=Novel functional properties of Ca2+ channel β subunits revealed by their expression in adult rat heart cells |journal=J. Physiol. |volume=541 |issue= Pt 2 |pages= 435–52 |year= 2002 |pmid= 12042350 |doi=10.1113/jphysiol.2002.018515 | pmc=2290333 |name-list-style=vanc| author2=Alseikhan B | author3=Takahashi SX | display-authors=3 | last4=Chaudhuri | first4=D. | last5=Mittman | first5=S. | last6=Yegnasubramanian | first6=V. | last7=Alvania | first7=R. S | last8=Johns | first8=D. C | last9=Marban | first9=E. }}
- {{cite journal | vauthors=Takahashi SX, Mittman S, Colecraft HM |title=Distinctive Modulatory Effects of Five Human Auxiliary β2 Subunit Splice Variants on L-Type Calcium Channel Gating |journal=Biophys. J. |volume=84 |issue= 5 |pages= 3007–21 |year= 2004 |pmid= 12719232 |doi=10.1016/S0006-3495(03)70027-7 | pmc=1302863 }}
- {{cite journal | vauthors=Finlin BS, Crump SM, Satin J, Andres DA |title=Regulation of voltage-gated calcium channel activity by the Rem and Rad GTPases |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=100 |issue= 24 |pages= 14469–74 |year= 2004 |pmid= 14623965 |doi= 10.1073/pnas.2437756100 | pmc=283615 |doi-access=free |bibcode=2003PNAS..10014469F }}
- {{cite journal | author=Ota T |title=Complete sequencing and characterization of 21,243 full-length human cDNAs |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 |name-list-style=vanc| author2=Suzuki Y | author3=Nishikawa T | display-authors=3 | last4=Otsuki | first4=Tetsuji | last5=Sugiyama | first5=Tomoyasu | last6=Irie | first6=Ryotaro | last7=Wakamatsu | first7=Ai | last8=Hayashi | first8=Koji | last9=Sato | first9=Hiroyuki | doi-access=free }}
- {{cite journal | author=Foell JD |title=Molecular heterogeneity of calcium channel beta-subunits in canine and human heart: evidence for differential subcellular localization |journal=Physiol. Genomics |volume=17 |issue= 2 |pages= 183–200 |year= 2004 |pmid= 14762176 |doi= 10.1152/physiolgenomics.00207.2003 |name-list-style=vanc| author2=Balijepalli RC | author3=Delisle BP | display-authors=3 | last4=Yunker | first4=AM | last5=Robia | first5=SL | last6=Walker | first6=JW | last7=McEnery | first7=MW | last8=January | first8=CT | last9=Kamp | first9=TJ |s2cid=38889757 }}
- {{cite journal | vauthors=Harry JB, Kobrinsky E, Abernethy DR, Soldatov NM |title=New short splice variants of the human cardiac Cavbeta2 subunit: redefining the major functional motifs implemented in modulation of the Cav1.2 channel |journal=J. Biol. Chem. |volume=279 |issue= 45 |pages= 46367–72 |year= 2004 |pmid= 15339916 |doi= 10.1074/jbc.M409523200 |doi-access= free }}
{{refend}}
External links
- [https://www.ncbi.nlm.nih.gov/books/NBK1517/ GeneReviews/NIH/NCBI/UW entry on Brugada syndrome]
- {{MeshName|CACNB2+protein,+human}}
- {{UCSC gene info|CACNB2}}
{{PDB Gallery|geneid=783}}
{{Ion channels|g1}}
{{membrane-protein-stub}}