Neuronal acetylcholine receptor subunit beta-2

Name	Neuronal acetylcholine receptor subunit beta-2
Synonyms	Neuronal acetylcholine receptor subunit beta-2 precursor
Gene Name	CHRNB2
Organism	Human
Amino acid sequence	>lcl\|BSEQ0010600\|Neuronal acetylcholine receptor subunit beta-2 MARRCGPVALLLGFGLLRLCSGVWGTDTEERLVEHLLDPSRYNKLIRPATNGSELVTVQL MVSLAQLISVHEREQIMTTNVWLTQEWEDYRLTWKPEEFDNMKKVRLPSKHIWLPDVVLY NNADGMYEVSFYSNAVVSYDGSIFWLPPAIYKSACKIEVKHFPFDQQNCTMKFRSWTYDR TEIDLVLKSEVASLDDFTPSGEWDIVALPGRRNENPDDSTYVDITYDFIIRRKPLFYTIN LIIPCVLITSLAILVFYLPSDCGEKMTLCISVLLALTVFLLLISKIVPPTSLDVPLVGKY LMFTMVLVTFSIVTSVCVLNVHHRSPTTHTMAPWVKVVFLEKLPALLFMQQPRHHCARQR LRLRRRQREREGAGALFFREAPGADSCTCFVNRASVQGLAGAFGAEPAPVAGPGRSGEPC GCGLREAVDGVRFIADHMRSEDDDQSVSEDWKYVAMVIDRLFLWIFVFVCVFGTIGMFLQ PLFQNYTTTTFLHSDHSAPSSK
Number of residues	502
Molecular Weight	57018.575
Theoretical pI	6.77
GO Classification	Functions acetylcholine binding acetylcholine-activated cation-selective channel activity acetylcholine receptor activity drug binding ligand-gated ion channel activity Processes learning neurological system process optic nerve morphogenesis response to cocaine regulation of dopamine metabolic process smooth muscle contraction positive regulation of B cell proliferation social behavior synaptic transmission synaptic transmission, cholinergic positive regulation of dopamine secretion membrane depolarization visual perception locomotory behavior positive regulation of synaptic transmission, dopaminergic memory regulation of dopamine secretion regulation of circadian sleep/wake cycle, non-REM sleep protein heterooligomerization regulation of synapse assembly action potential cognition regulation of circadian sleep/wake cycle, REM sleep response to ethanol regulation of synaptic transmission, dopaminergic B cell activation neuromuscular synaptic transmission regulation of dendrite morphogenesis ion transport response to nicotine synaptic transmission involved in micturition behavioral response to nicotine sensory perception of sound negative regulation of action potential calcium ion transport regulation of membrane potential vestibulocochlear nerve development central nervous system projection neuron axonogenesis ion transmembrane transport sensory perception of pain signal transduction visual learning conditioned taste aversion response to hypoxia associative learning cation transmembrane transport lateral geniculate nucleus development Components postsynaptic membrane plasma membrane acetylcholine-gated channel complex cell junction neuron projection integral component of membrane external side of plasma membrane synapse
General Function	Ligand-gated ion channel activity
Specific Function	After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane permeable to sodiun ions.
Transmembrane Regions	234-258 266-284 300-321 459-478
GenBank Protein ID	32017
UniProtKB ID	P17787
UniProtKB Entry Name	ACHB2_HUMAN
Cellular Location	Cell junction
Gene sequence	>lcl\|BSEQ0010601\|Neuronal acetylcholine receptor subunit beta-2 (CHRNB2) ATGGCCCGGCGCTGCGGCCCCGTGGCGCTGCTCCTTGGCTTCGGCCTCCTCCGGCTGTGC TCAGGGGTGTGGGGTACGGATACAGAGGAGCGGCTGGTGGAGCATCTCCTGGATCCTTCC CGCTACAACAAGCTTATCCGCCCAGCCACCAATGGCTCTGAGCTGGTGACAGTACAGCTT ATGGTGTCACTGGCCCAGCTCATCAGTGTGCATGAGCGGGAGCAGATCATGACCACCAAT GTCTGGCTGACCCAGGAGTGGGAAGATTATCGCCTCACCTGGAAGCCTGAAGAGTTTGAC AACATGAAGAAAGTTCGGCTCCCTTCCAAACACATCTGGCTCCCAGATGTGGTCCTGTAC AACAATGCTGACGGCATGTACGAGGTGTCCTTCTATTCCAATGCCGTGGTCTCCTATGAT GGCAGCATCTTCTGGCTGCCGCCTGCCATCTACAAGAGCGCATGCAAGATTGAAGTAAAG CACTTCCCATTTGACCAGCAGAACTGCACCATGAAGTTCCGTTCGTGGACCTACGACCGC ACAGAGATCGACTTGGTGCTGAAGAGTGAGGTGGCCAGCCTGGACGACTTCACACCTAGT GGTGAGTGGGACATCGTGGCGCTGCCGGGCCGGCGCAACGAGAACCCCGACGACTCTACG TACGTGGACATCACGTATGACTTCATCATTCGCCGCAAGCCGCTCTTCTACACCATCAAC CTCATCATCCCCTGTGTGCTCATCACCTCGCTAGCCATCCTTGTCTTCTACCTGCCATCC GACTGTGGCGAGAAGATGACGTTGTGCATCTCAGTGCTGCTGGCGCTCACGGTCTTCCTG CTGCTCATCTCCAAGATCGTGCCTCCCACCTCCCTCGACGTGCCGCTCGTCGGCAAGTAC CTCATGTTCACCATGGTGCTTGTCACCTTCTCCATCGTCACCAGCGTGTGCGTGCTCAAC GTGCACCACCGCTCGCCCACCACGCACACCATGGCGCCCTGGGTGAAGGTCGTCTTCCTG GAGAAGCTGCCCGCGCTGCTCTTCATGCAGCAGCCACGCCATCATTGCGCCCGTCAGCGC CTGCGCCTGCGGCGACGCCAGCGTGAGCGCGAGGGCGCTGGAGCCCTCTTCTTCCGCGAA GCCCCAGGGGCCGACTCCTGCACGTGCTTCGTCAACCGCGCGTCGGTGCAGGGGTTGGCC GGGGCCTTCGGGGCTGAGCCTGCACCAGTGGCGGGCCCCGGGCGCTCAGGGGAGCCGTGT GGCTGTGGCCTCCGGGAGGCGGTGGACGGCGTGCGCTTCATCGCAGACCACATGCGGAGC GAGGACGATGACCAGAGCGTGAGTGAGGACTGGAAGTACGTCGCCATGGTGATCGACCGC CTCTTCCTCTGGATCTTTGTCTTTGTCTGTGTCTTTGGCACCATCGGCATGTTCCTGCAG CCTCTCTTCCAGAACTACACCACCACCACCTTCCTCCACTCAGACCACTCAGCCCCCAGC TCCAAGTGA
GenBank Gene ID	X53179
GeneCard ID	None
GenAtlas ID	CHRNB2
HGNC ID	HGNC:1962
Chromosome Location	1
Locus	1q21.3
References	Anand R, Lindstrom J: Nucleotide sequence of the human nicotinic acetylcholine receptor beta 2 subunit gene. Nucleic Acids Res. 1990 Jul 25;18(14):4272.[2377478 ] Elliott KJ, Ellis SB, Berckhan KJ, Urrutia A, Chavez-Noriega LE, Johnson EC, Velicelebi G, Harpold MM: Comparative structure of human neuronal alpha 2-alpha 7 and beta 2-beta 4 nicotinic acetylcholine receptor subunits and functional expression of the alpha 2, alpha 3, alpha 4, alpha 7, beta 2, and beta 4 subunits. J Mol Neurosci. 1996 Fall;7(3):217-28.[8906617 ] Groot Kormelink PJ, Luyten WH: Cloning and sequence of full-length cDNAs encoding the human neuronal nicotinic acetylcholine receptor (nAChR) subunits beta3 and beta4 and expression of seven nAChR subunits in the human neuroblastoma cell line SH-SY5Y and/or IMR-32. FEBS Lett. 1997 Jan 6;400(3):309-14.[9009220 ] Rempel N, Heyers S, Engels H, Sleegers E, Steinlein OK: The structures of the human neuronal nicotinic acetylcholine receptor beta2- and alpha3-subunit genes (CHRNB2 and CHRNA3). Hum Genet. 1998 Dec;103(6):645-53.[9921897 ] Lueders KK, Elliott RW, Marenholz I, Mischke D, DuPree M, Hamer D: Genomic organization and mapping of the human and mouse neuronal beta2-nicotinic acetylcholine receptor genes. Mamm Genome. 1999 Sep;10(9):900-5.[10441742 ] Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7.[15489334 ] Lansdell SJ, Gee VJ, Harkness PC, Doward AI, Baker ER, Gibb AJ, Millar NS: RIC-3 enhances functional expression of multiple nicotinic acetylcholine receptor subtypes in mammalian cells. Mol Pharmacol. 2005 Nov;68(5):1431-8. Epub 2005 Aug 24.[16120769 ] Bondarenko V, Tillman T, Xu Y, Tang P: NMR structure of the transmembrane domain of the n-acetylcholine receptor beta2 subunit. Biochim Biophys Acta. 2010 Aug;1798(8):1608-14. doi: 10.1016/j.bbamem.2010.04.014. Epub 2010 May 2.[20441771 ] Bondarenko V, Mowrey D, Tillman T, Cui T, Liu LT, Xu Y, Tang P: NMR structures of the transmembrane domains of the alpha4beta2 nAChR. Biochim Biophys Acta. 2012 May;1818(5):1261-8. doi: 10.1016/j.bbamem.2012.02.008. Epub 2012 Feb 14.[22361591 ] De Fusco M, Becchetti A, Patrignani A, Annesi G, Gambardella A, Quattrone A, Ballabio A, Wanke E, Casari G: The nicotinic receptor beta 2 subunit is mutant in nocturnal frontal lobe epilepsy. Nat Genet. 2000 Nov;26(3):275-6.[11062464 ] Phillips HA, Favre I, Kirkpatrick M, Zuberi SM, Goudie D, Heron SE, Scheffer IE, Sutherland GR, Berkovic SF, Bertrand D, Mulley JC: CHRNB2 is the second acetylcholine receptor subunit associated with autosomal dominant nocturnal frontal lobe epilepsy. Am J Hum Genet. 2001 Jan;68(1):225-31. Epub 2000 Dec 5.[11104662 ] Lueders KK, Hu S, McHugh L, Myakishev MV, Sirota LA, Hamer DH: Genetic and functional analysis of single nucleotide polymorphisms in the beta2-neuronal nicotinic acetylcholine receptor gene (CHRNB2). Nicotine Tob Res. 2002 Feb;4(1):115-25.[11906688 ]

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