CHRNB2

Summary

Gene Symbol: CHRNB2
Description: cholinergic receptor nicotinic beta 2 subunit
Alias: EFNL3, nAChRB2, neuronal acetylcholine receptor subunit beta-2, acetylcholine receptor, nicotinic, beta 2 (neuronal), beta2 human neuronal nicotinic acetylcholine receptor, cholinergic receptor, nicotinic beta 2, cholinergic receptor, nicotinic, beta 2 (neuronal), cholinergic receptor, nicotinic, beta polypeptide 2 (neuronal), neuronal nicotinic acetylcholine receptor beta 2
Species: human
Products:     CHRNB2

Top Publications

  1. McLellan A, Phillips H, Rittey C, Kirkpatrick M, Mulley J, Goudie D, et al. Phenotypic comparison of two Scottish families with mutations in different genes causing autosomal dominant nocturnal frontal lobe epilepsy. Epilepsia. 2003;44:613-7 pubmed
    ..This is likely to be due to the similar functional consequences of each mutation on the CHRN receptor. ..
  2. Feng Y, Niu T, Xing H, Xu X, Chen C, Peng S, et al. A common haplotype of the nicotine acetylcholine receptor alpha 4 subunit gene is associated with vulnerability to nicotine addiction in men. Am J Hum Genet. 2004;75:112-21 pubmed
    ..We studied six single-nucleotide polymorphisms (SNPs) in the CHRNA4 gene and four SNPs in the CHRNB2 gene with respect to nicotine dependence in a collection of 901 subjects (815 siblings and 86 parents) from 222 ..
  3. Kuryatov A, Luo J, Cooper J, Lindstrom J. Nicotine acts as a pharmacological chaperone to up-regulate human alpha4beta2 acetylcholine receptors. Mol Pharmacol. 2005;68:1839-51 pubmed
    ..Assembly intermediates are disrupted by solubilization in Triton X-100, but chemical cross-linking stabilizes a putative assembly intermediate approximately the size of an alpha4beta2alpha4beta2 tetramer. ..
  4. Staley J, Krishnan Sarin S, Cosgrove K, Krantzler E, Frohlich E, Perry E, et al. Human tobacco smokers in early abstinence have higher levels of beta2* nicotinic acetylcholine receptors than nonsmokers. J Neurosci. 2006;26:8707-14 pubmed
    ..Greater beta2*-nAChR availability during early abstinence may impact the ability of smokers to maintain abstinence. ..
  5. Perkins K, Lerman C, Mercincavage M, Fonte C, Briski J. Nicotinic acetylcholine receptor beta2 subunit (CHRNB2) gene and short-term ability to quit smoking in response to nicotine patch. Cancer Epidemiol Biomarkers Prev. 2009;18:2608-12 pubmed publisher
    ..of a 3' untranslated region polymorphism (rs2072661) in the nicotinic acetylcholine receptor beta2 subunit (CHRNB2) gene with quitting success in response to nicotine versus placebo patch during a short-term test of patch effects...
  6. Kuryatov A, Lindstrom J. Expression of functional human ?6?2?3* acetylcholine receptors in Xenopus laevis oocytes achieved through subunit chimeras and concatamers. Mol Pharmacol. 2011;79:126-40 pubmed publisher
    ..For the first time, these concatamers allow analysis of functional properties of ?6?2?3* AChRs. These concatamers should enable selection of drugs specific for ?6?2?3* AChRs. ..
  7. Silverman M, Neale M, Sullivan P, Harris Kerr C, Wormley B, Sadek H, et al. Haplotypes of four novel single nucleotide polymorphisms in the nicotinic acetylcholine receptor beta2-subunit (CHRNB2) gene show no association with smoking initiation or nicotine dependence. Am J Med Genet. 2000;96:646-53 pubmed
    ..of evidence, including experiments with mice that lack the nicotinic acetylcholine receptor beta2-subunit gene (CHRNB2), have suggested that a beta2-containing nicotinic receptor is necessary for at least some of the reinforcing ..
  8. De Fusco M, Becchetti A, Patrignani A, Annesi G, Gambardella A, Quattrone A, et al. The nicotinic receptor beta 2 subunit is mutant in nocturnal frontal lobe epilepsy. Nat Genet. 2000;26:275-6 pubmed
    ..The newly identified locus associated with ENFL3 harbours several candidate genes, including CHRNB2 (ref...
  9. Phillips H, Favre I, Kirkpatrick M, Zuberi S, Goudie D, Heron S, et al. CHRNB2 is the second acetylcholine receptor subunit associated with autosomal dominant nocturnal frontal lobe epilepsy. Am J Hum Genet. 2001;68:225-31 pubmed
    ..The mutation, in an evolutionary conserved region of CHRNB2, is associated with ADNFLE in a Scottish family...

More Information

Publications118 found, 100 shown here

  1. Lueders K, Hu S, McHugh L, Myakishev M, Sirota L, Hamer D. Genetic and functional analysis of single nucleotide polymorphisms in the beta2-neuronal nicotinic acetylcholine receptor gene (CHRNB2). Nicotine Tob Res. 2002;4:115-25 pubmed
    The beta2-neuronal nicotinic acetylcholine receptor gene (CHRNB2) is a logical candidate for influencing smoking behavior and nicotine dependence. We discovered six single nucleotide polymorphisms (SNPs) in the CHRNB2 gene by surveying 15...
  2. Ehringer M, Clegg H, Collins A, Corley R, Crowley T, Hewitt J, et al. Association of the neuronal nicotinic receptor beta2 subunit gene (CHRNB2) with subjective responses to alcohol and nicotine. Am J Med Genet B Neuropsychiatr Genet. 2007;144B:596-604 pubmed
    ..We have examined two neuronal nicotinic receptor subunit genes (CHRNA4 and CHRNB2) for possible associations with nicotine and alcohol phenotypes, including measures of frequency of use and ..
  3. Diaz Otero F, Quesada M, Morales Corraliza J, Martínez Parra C, Gomez Garre P, Serratosa J. Autosomal dominant nocturnal frontal lobe epilepsy with a mutation in the CHRNB2 gene. Epilepsia. 2008;49:516-20 pubmed
    ..ADNFLE; MIM 600513) has been associated with mutations in the genes coding for the alfa-4 (CHRNA4), beta-2 (CHRNB2), and alpha-2 (CHRNA2) subunits of the neuronal nicotinic acetylcholine receptor (nAChR) and for the corticotropin-..
  4. Conti D, Lee W, Li D, Liu J, Van Den Berg D, Thomas P, et al. Nicotinic acetylcholine receptor beta2 subunit gene implicated in a systems-based candidate gene study of smoking cessation. Hum Mol Genet. 2008;17:2834-48 pubmed publisher
    ..An SNP (rs2072661) in the 3' UTR region of the beta2 nicotinic acetylcholine receptor subunit (CHRNB2) has an impact on abstinence rates at the end of treatment (adjusted P = 0...
  5. Etter J, Hoda J, Perroud N, Munafo M, Buresi C, Duret C, et al. Association of genes coding for the alpha-4, alpha-5, beta-2 and beta-3 subunits of nicotinic receptors with cigarette smoking and nicotine dependence. Addict Behav. 2009;34:772-5 pubmed publisher
    ..possible associations between the temperament trait novelty seeking and CHRNA4 rs1044396, CHRNA5 rs16969968 and CHRNB2 rs4845378, but these associations were not robust to correction for multiple testing...
  6. Samochocki M, Zerlin M, Jostock R, Groot Kormelink P, Luyten W, Albuquerque E, et al. Galantamine is an allosterically potentiating ligand of the human alpha4/beta2 nAChR. Acta Neurol Scand Suppl. 2000;176:68-73 pubmed
    ..The possible benefits for therapy of AD of an APL action on nicotinic receptors is discussed. ..
  7. Chatzidaki A, Fouillet A, Li J, Dage J, Millar N, Sher E, et al. Pharmacological Characterisation of Nicotinic Acetylcholine Receptors Expressed in Human iPSC-Derived Neurons. PLoS ONE. 2015;10:e0125116 pubmed publisher
    ..with highest levels detected for α3-α7, β1, β2 and β4 subunits (encoded by CHRNA3-CHRNA7, CHRNB1, CHRNB2 and CHRNB4 genes)...
  8. Tanaka T, Abe H, Kimura M, Onda N, Mizukami S, Yoshida T, et al. Developmental exposure to T-2 toxin reversibly affects postnatal hippocampal neurogenesis and reduces neural stem cells and progenitor cells in mice. Arch Toxicol. 2016;90:2009-24 pubmed publisher
    ..T-2 toxin decreased transcript levels of cholinergic and glutamate receptor subunits (Chrna4, Chrnb2 and Gria2) and glutamate transporter (Slc17a6) in the dentate gyrus, suggesting decreased cholinergic signals on ..
  9. Person A, Bills K, Liu H, Botting S, Lindstrom J, Wells G. Extracellular domain nicotinic acetylcholine receptors formed by alpha4 and beta2 subunits. J Biol Chem. 2005;280:39990-40002 pubmed
    ..These results suggest that M1 domains on both alpha4 and beta2 play an important role for efficient expression of extracellular domain alpha4beta2 nAChRs that are high fidelity structural models of full-length alpha4beta2 nAChRs. ..
  10. Liu Q, Han H, Wang M, Yao Y, Wen L, Jiang K, et al. Association and cis-mQTL analysis of variants in CHRNA3-A5, CHRNA7, CHRNB2, and CHRNB4 in relation to nicotine dependence in a Chinese Han population. Transl Psychiatry. 2018;8:83 pubmed publisher
    ..In this study, we performed both association and interaction analysis for 67 SNPs in CHRNA3-A5, CHRNA7, CHRNB2, and CHRNB4 with ND in a Chinese Han population (N = 5055)...
  11. Baulac S. Genetics advances in autosomal dominant focal epilepsies: focus on DEPDC5. Prog Brain Res. 2014;213:123-39 pubmed publisher
    ..mediated by different biological pathways: ion channel subunit genes have been linked to ADNFLE (CHRNA4, CHRNA2, CHRNB2, and KCNT1, encoding, respectively, the α4, α2, and β2 subunits of the neuronal nicotinic acetylcholine ..
  12. Wang Z, Deba F, Mohamed T, Chiara D, Ramos K, Hamouda A. Unraveling amino acid residues critical for allosteric potentiation of (?4)3(?2)2-type nicotinic acetylcholine receptor responses. J Biol Chem. 2017;292:9988-10001 pubmed publisher
    ..These findings also provide structural information that will facilitate the structure-based design of novel therapeutics that target selectively the (?4)3(?2)2 nAChR. ..
  13. Elliott K, Ellis S, Berckhan K, Urrutia A, Chavez Noriega L, Johnson E, et al. 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;7:217-28 pubmed
  14. Chen Z, Zhai Q, Gui J, Zhang Y, Guo Y, Ding J, et al. [Mutational analysis of CHRNB2 and CHRNA2 genes in southern Chinese population with autosomal dominant nocturnal frontal lobe epilepsy]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2011;28:14-8 pubmed publisher
    To investigate the gene mutations of CHRNB2 and CHRNA2 in Chinese population with autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE)...
  15. Suresh A, Hung A. Molecular simulation study of the unbinding of α-conotoxin [ϒ4E]GID at the α7 and α4β2 neuronal nicotinic acetylcholine receptors. J Mol Graph Model. 2016;70:109-121 pubmed publisher
    ..Computational mutational free energy analyses also revealed a number of possible single-site mutations to GID which might enhance its selective binding to α4β2 over α7. ..
  16. Pignataro D, Sucunza D, Vanrell L, Lopez Franco E, Dopeso Reyes I, Vales A, et al. Adeno-Associated Viral Vectors Serotype 8 for Cell-Specific Delivery of Therapeutic Genes in the Central Nervous System. Front Neuroanat. 2017;11:2 pubmed publisher
    ..was observed using the minimal promoters for the neural protein BM88 and the neuronal nicotinic receptor ?2 (CHRNB2)...
  17. Bracci L, Lozzi L, Rustici M, Neri P. Binding of HIV-1 gp120 to the nicotinic receptor. FEBS Lett. 1992;311:115-8 pubmed
    ..Here we report findings about the existence of a mechanism of functional molecular mimicry which could enable the binding of HIV-1 gp120 to nicotinic acetylcholine receptors in muscle cells and neurons. ..
  18. Combi R, Ferini Strambi L, Tenchini M. CHRNA2 mutations are rare in the NFLE population: evaluation of a large cohort of Italian patients. Sleep Med. 2009;10:139-42 pubmed publisher
    Forty-six nocturnal frontal lobe epilepsy (NFLE) patients (in which the involvement of the CHRNA4 and CHRNB2 genes coding for neuronal nicotinic acetylcholine receptor (nAChRs) subunits associated to the disease were previously excluded) ..
  19. Cosgrove K, Esterlis I, McKee S, Bois F, Alagille D, Tamagnan G, et al. Beta2* nicotinic acetylcholine receptors modulate pain sensitivity in acutely abstinent tobacco smokers. Nicotine Tob Res. 2010;12:535-9 pubmed publisher
    ..If individuals are more likely to relapse in response to painful stimuli, lower beta(2)*-nAChR availability during acute abstinence may be protective. ..
  20. Olsen J, Ahring P, Kastrup J, Gajhede M, Balle T. Structural and functional studies of the modulator NS9283 reveal agonist-like mechanism of action at α4β2 nicotinic acetylcholine receptors. J Biol Chem. 2014;289:24911-21 pubmed publisher
  21. Pérez Rubio G, Pérez Rodríguez M, Fernandez Lopez J, Ramirez Venegas A, García Colunga J, Avila Moreno F, et al. SNPs in NRXN1 and CHRNA5 are associated to smoking and regulation of GABAergic and glutamatergic pathways. Pharmacogenomics. 2016;17:1145-1158 pubmed
    ..In the first stage, a genotyping microarray that included 347 SNPs in CHRNA2-CHRNA7/CHRNA10, CHRNB2-CHRNB4 and NRXN1 genes and 37 ancestry-informative markers was used to analyze 707 samples (187 HS, 328 LS and 192 ..
  22. Baulac S, Baulac M. Advances on the genetics of mendelian idiopathic epilepsies. Neurol Clin. 2009;27:1041-1061 pubmed publisher
    ..families with autosomal dominant transmission have revealed 11 genes (KCNQ2, KCNQ3, CHRNA4, CHRNA2, CHRNB2, SCN1B, SCN1A, SCN2A, GABRG2, GABRA1, and LGI1) and numerous loci for febrile seizures and epilepsies...
  23. Xu J, Cohen B, Zhu Y, Dziewczapolski G, Panda S, Lester H, et al. Altered activity-rest patterns in mice with a human autosomal-dominant nocturnal frontal lobe epilepsy mutation in the ?2 nicotinic receptor. Mol Psychiatry. 2011;16:1048-61 pubmed publisher
    ..Together, these findings emphasize several important roles of ?2* nicotinic receptors in complex biological processes including the activity-rest cycle, natural reward and anxiety. ..
  24. Schedel A, Kaiser K, Uhlig S, Lorenz F, Sarin A, Starigk J, et al. Megakaryocytes and platelets express nicotinic acetylcholine receptors but nicotine does not affect megakaryopoiesis or platelet function. Platelets. 2016;27:43-50 pubmed publisher
    ..The functional role of nAChR was evaluated using specific antagonists in aggregometry. CHRNA7, CHRNA4 and CHRNB2 gene transcripts and the corresponding proteins could be identified in CBMK during all stages of differentiation...
  25. Kimbrel N, Garrett M, Dennis M, Liu Y, Patanam I, Workgroup V, et al. Effect of genetic variation in the nicotinic receptor genes on risk for posttraumatic stress disorder. Psychiatry Res. 2015;229:326-31 pubmed publisher
    ..variation in the nicotinic receptor gene family (CHRNA2, CHRNA3, CHRNA4, CHRNA5, CHRNA6, CHRNA7, CHRNA9, CHRNA10, CHRNB2, CHRNB3, CHRNB4) and the occurrence of posttraumatic stress disorder (PTSD)...
  26. Conti V, Aracri P, Chiti L, Brusco S, Mari F, Marini C, et al. Nocturnal frontal lobe epilepsy with paroxysmal arousals due to CHRNA2 loss of function. Neurology. 2015;84:1520-8 pubmed publisher
    We assessed the mutation frequency in nicotinic acetylcholine receptor (nAChR) subunits CHRNA4, CHRNB2, and CHRNA2 in a cohort including autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) and sporadic nocturnal frontal lobe ..
  27. Zhao J, Zheng Y, Xue F, Chang Y, Yang H, Zhang J. Molecular basis of reactive oxygen species-induced inactivation of ?4?2 nicotinic acetylcholine receptors. Free Radic Biol Med. 2016;97:520-530 pubmed publisher
    ..In addition, we mimicked an experimental Parkinson's disease (PD) model in PC12 cells and found that ROS, generated by 6-hydroxydopamine (6-OHDA), could cause the current rundown in ?4?2 nAChRs, which may play a role in PD. ..
  28. Jain A, Kuryatov A, Wang J, Kamenecka T, Lindstrom J. Unorthodox Acetylcholine Binding Sites Formed by ?5 and ?3 Accessory Subunits in ?4?2* Nicotinic Acetylcholine Receptors. J Biol Chem. 2016;291:23452-23463 pubmed
    ..Agonists or antagonists for these unorthodox sites might be selective and effective drugs for modulating nAChR function to treat nicotine addiction and other disorders. ..
  29. Rigbi A, Kanyas K, Yakir A, Greenbaum L, Pollak Y, Ben Asher E, et al. Why do young women smoke? V. Role of direct and interactive effects of nicotinic cholinergic receptor gene variation on neurocognitive function. Genes Brain Behav. 2008;7:164-72 pubmed
    ..Stroop, CPT Loading Phase, TOL) was associated with variants in CHRNA2, CHRNA4, CHRNA5, CHRNA7, CHRNA9, CHRNA10, CHRNB2 and CHRNB3. Selective attention (Stroop) was associated with CHRNA4, CHRNA5, CHRNA9 and CHRNB2...
  30. Chen Y, Wu L, Fang Y, He Z, Peng B, Shen Y, et al. A novel mutation of the nicotinic acetylcholine receptor gene CHRNA4 in sporadic nocturnal frontal lobe epilepsy. Epilepsy Res. 2009;83:152-6 pubmed publisher
    ..1-3 of the genes of the neuronal nicotinic acetylcholine receptor (nAChR) alpha4-subunit (CHRNA4), beta2-subunit (CHRNB2) and alpha2-subunit (CHRNA2)...
  31. Zhang H, Yu L, Eaton J, Whiteaker P, Onajole O, Hanania T, et al. Chemistry, pharmacology, and behavioral studies identify chiral cyclopropanes as selective ?4?2-nicotinic acetylcholine receptor partial agonists exhibiting an antidepressant profile. Part II. J Med Chem. 2013;56:5495-504 pubmed publisher
    ..The favorable ADMET profile and chemical stability of 26 further indicate this compound to be a promising lead as a drug candidate warranting further advancement down the drug discovery pipeline. ..
  32. Pintarelli G, Galvan A, Pozzi P, Noci S, Pasetti G, Sala F, et al. Pharmacogenetic study of seven polymorphisms in three nicotinic acetylcholine receptor subunits in smoking-cessation therapies. Sci Rep. 2017;7:16730 pubmed publisher
    ..We genotyped seven polymorphisms in genes encoding the nAChR subunits CHRNA4, CHRNA5, and CHRNB2. At baseline, both CPD and eCO were associated with polymorphisms in the CHRNA5 locus (rs503464, rs55853698, ..
  33. Steinlein O. Neuronal nicotinic receptors in human epilepsy. Eur J Pharmacol. 2000;393:243-7 pubmed
    ..But despite some positive linkage results including the CHRNA3-CHRNA5-CHRNB2 cluster on chromosome 15q24, no further mutations have been found so far...
  34. Pimlott S, Piggott M, Ballard C, McKeith I, Perry R, Kometa S, et al. Thalamic nicotinic receptors implicated in disturbed consciousness in dementia with Lewy bodies. Neurobiol Dis. 2006;21:50-6 pubmed
    ..These findings, together with previous neocortical data, implicate nicotinic modulation of thalamo-cortical circuitry as a key component in the control of conscious awareness in DLB. ..
  35. Kishi T, Ikeda M, Kitajima T, Yamanouchi Y, Kinoshita Y, Kawashima K, et al. Genetic association analysis of tagging SNPs in alpha4 and beta2 subunits of neuronal nicotinic acetylcholine receptor genes (CHRNA4 and CHRNB2) with schizophrenia in the Japanese population. J Neural Transm (Vienna). 2008;115:1457-61 pubmed publisher
    ..acetylcholine receptors; therefore, these two neuronal nicotinic acetylcholine receptors genes (CHRNA4 and CHRNB2) are considered to be attractive candidate genes for the pathophysiology of schizophrenia...
  36. 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;1798:1608-14 pubmed publisher
  37. Engidawork E, Gulesserian T, Balic N, Cairns N, Lubec G. Changes in nicotinic acetylcholine receptor subunits expression in brain of patients with Down syndrome and Alzheimer's disease. J Neural Transm Suppl. 2001;:211-22 pubmed
    ..Hence, therapeutic strategies tailored towards these end might be of some benefit for cognitive enhancement in these disorders. ..
  38. Hales T, Dunlop J, Deeb T, Carland J, Kelley S, Lambert J, et al. Common determinants of single channel conductance within the large cytoplasmic loop of 5-hydroxytryptamine type 3 and alpha4beta2 nicotinic acetylcholine receptors. J Biol Chem. 2006;281:8062-71 pubmed
    ..This locus may be a common determinant of ion conduction throughout the Cys loop receptor family...
  39. De Luca V, Voineskos S, Wong G, Kennedy J. Genetic interaction between alpha4 and beta2 subunits of high affinity nicotinic receptor: analysis in schizophrenia. Exp Brain Res. 2006;174:292-6 pubmed
    ..We typed polymorphisms in CHRNA4 and CHRNB2 genes controlling the expression of neuronal high-affinity nicotinic receptors in 117 Canadian families having at ..
  40. Schjeide B, McQueen M, Mullin K, DiVito J, Hogan M, Parkinson M, et al. Assessment of Alzheimer's disease case-control associations using family-based methods. Neurogenetics. 2009;10:19-25 pubmed publisher
    ..In this study, we tested 27 genes (ACE, BDNF, CH25H, CHRNB2, CST3, CTSD, DAPK1, GALP, hCG2039140, IL1B, LMNA, LOC439999, LOC651924, MAPT, MTHFR, MYH13, PCK1, PGBD1, PRNP, ..
  41. Laumet G, Chouraki V, Grenier Boley B, Legry V, Heath S, Zelenika D, et al. Systematic analysis of candidate genes for Alzheimer's disease in a French, genome-wide association study. J Alzheimers Dis. 2010;20:1181-8 pubmed publisher
    ..Ten genes/loci (TFAM, SORL1, CHRNB2, SORCS1, DAPK1, MTHFR, GWA 14q32...
  42. Chen H, Shinkai T, Utsunomiya K, Yamada K, Sakata S, Fukunaka Y, et al. Possible association of nicotinic acetylcholine receptor gene (CHRNA4 and CHRNB2) polymorphisms with nicotine dependence in Japanese males: an exploratory study. Pharmacopsychiatry. 2013;46:77-82 pubmed publisher
    ..It has been reported that the nicotinic acetylcholine receptor (CHRNA4 and CHRNB2) genes might be associated with smoking behavior in several ethnic populations...
  43. Graham A, Ray M, Perry E, Jaros E, Perry R, Volsen S, et al. Differential nicotinic acetylcholine receptor subunit expression in the human hippocampus. J Chem Neuroanat. 2003;25:97-113 pubmed
    ..Immunoreactivity to all subunits was noted in association with blood vessels. These results indicate the involvement of multiple nAChR subtypes in the modulation of both neuronal and non-neuronal functions in the human hippocampus. ..
  44. Martin Ruiz C, Lee M, Perry R, Baumann M, Court J, Perry E. Molecular analysis of nicotinic receptor expression in autism. Brain Res Mol Brain Res. 2004;123:81-90 pubmed
    ..The findings point to dendritic and/or synaptic nicotinic receptor abnormalities that may relate to disruptions in cerebral circuitry development. ..
  45. Bertram L, McQueen M, Mullin K, Blacker D, Tanzi R. Systematic meta-analyses of Alzheimer disease genetic association studies: the AlzGene database. Nat Genet. 2007;39:17-23 pubmed
    ..of APOE and related effects, we pinpointed over a dozen potential Alzheimer disease susceptibility genes (ACE, CHRNB2, CST3, ESR1, GAPDHS, IDE, MTHFR, NCSTN, PRNP, PSEN1, TF, TFAM and TNF) with statistically significant allelic ..
  46. Saccone N, Saccone S, Hinrichs A, Stitzel J, Duan W, Pergadia M, et al. Multiple distinct risk loci for nicotine dependence identified by dense coverage of the complete family of nicotinic receptor subunit (CHRN) genes. Am J Med Genet B Neuropsychiatr Genet. 2009;150B:453-66 pubmed publisher
  47. Boillot M, Baulac S. Genetic models of focal epilepsies. J Neurosci Methods. 2016;260:132-43 pubmed publisher
    ..we provide an update on the mutational spectrum of neuronal nicotinic acetylcholine receptor genes (CHRNA4, CHRNB2, CHRNA2) and KCNT1 causing autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE), and of LGI1 in autosomal ..
  48. MUFSON E, He B, Ginsberg S, Carper B, Bieler G, Crawford F, et al. Gene Profiling of Nucleus Basalis Tau Containing Neurons in Chronic Traumatic Encephalopathy: A Chronic Effects of Neurotrauma Consortium Study. J Neurotrauma. 2018;: pubmed publisher
    ..Specifically, downregulation of the nicotinic cholinergic receptor subunit beta-2 gene (Chrnb2), monoaminergic enzymes catechol-O-methyltransferase (Comt) and dopa decarboxylase (Ddc), chloride channels Clcn4 ..
  49. Heeschen C, Weis M, Aicher A, Dimmeler S, Cooke J. A novel angiogenic pathway mediated by non-neuronal nicotinic acetylcholine receptors. J Clin Invest. 2002;110:527-36 pubmed
    ..To our knowledge, this is the first description of a cholinergic angiogenic pathway, and it suggests a novel avenue for therapeutic modulation of angiogenesis. ..
  50. Hosur V, Loring R. ?4?2 nicotinic receptors partially mediate anti-inflammatory effects through Janus kinase 2-signal transducer and activator of transcription 3 but not calcium or cAMP signaling. Mol Pharmacol. 2011;79:167-74 pubmed publisher
    ..Anti-inflammatory effects of nicotine may therefore be mediated through ?4?2 receptors, the predominant high-affinity binding sites for nicotine in the central nervous system, in addition to the better-established ?7 receptors. ..
  51. Svyryd Y, Ramírez Venegas A, Sánchez Hernández B, Aguayo Gómez A, Luna Muñoz L, Arteaga Vázquez J, et al. Genetic Risk Determinants for Cigarette Smoking Dependence in Mexican Mestizo Families. Nicotine Tob Res. 2016;18:620-5 pubmed publisher
    ..with at least one smoker were assessed for association of 12 gene variants of six candidate genes (CHRNA4, CHRNB2, DRD2, ANKK1, SLC6A3, and CYP2A6) with cigarette consumption, age of initiation and smoking duration...
  52. Fjaer R, Brodtkorb E, Øye A, Sheng Y, Vigeland M, Kvistad K, et al. Generalized epilepsy in a family with basal ganglia calcifications and mutations in SLC20A2 and CHRNB2. Eur J Med Genet. 2015;58:624-8 pubmed publisher
    ..The siblings also had a variant in CHRNB2, a known epilepsy gene associated with autosomal dominant frontal lobe epilepsy, which they had inherited from the ..
  53. Kawamata J, Shimohama S. Association of novel and established polymorphisms in neuronal nicotinic acetylcholine receptors with sporadic Alzheimer's disease. J Alzheimers Dis. 2002;4:71-6 pubmed
    ..of sporadic AD, we have performed mutational analyses of the major neuronal nAChR genes (CHRNA3, 4, 7 and CHRNB2) expressed in central nervous system...
  54. Cook L, Ho L, Taylor A, Brayne C, Evans J, Xuereb J, et al. Candidate gene association studies of the alpha 4 (CHRNA4) and beta 2 (CHRNB2) neuronal nicotinic acetylcholine receptor subunit genes in Alzheimer's disease. Neurosci Lett. 2004;358:142-6 pubmed
    ..Accordingly, we have analysed polymorphisms in the genes that encode the alpha4 and beta2 subunits, CHRNA4 and CHRNB2 respectively, for genetic associations with late-onset AD...
  55. Li P, Steinbach J. The neuronal nicotinic alpha4beta2 receptor has a high maximal probability of being open. Br J Pharmacol. 2010;160:1906-15 pubmed publisher
  56. Bondarenko V, Mowrey D, Liu L, Xu Y, Tang P. NMR resolved multiple anesthetic binding sites in the TM domains of the α4β2 nAChR. Biochim Biophys Acta. 2013;1828:398-404 pubmed publisher
    ..Furthermore, the study provided compelling experimental evidence of anesthetic-induced changes in protein dynamics, especially near regions of the hydrophobic gate and ion selectivity filter that directly regulate channel functions. ..
  57. Brody A, Mukhin A, Mamoun M, Luu T, Neary M, Liang L, et al. Brain nicotinic acetylcholine receptor availability and response to smoking cessation treatment: a randomized trial. JAMA Psychiatry. 2014;71:797-805 pubmed publisher
    ..clinicaltrials.gov Identifier: NCT01526005. ..
  58. Shiba Y, Mori F, Yamada J, Migita K, Nikaido Y, Wakabayashi K, et al. Spontaneous epileptic seizures in transgenic rats harboring a human ADNFLE missense mutation in the β2-subunit of the nicotinic acetylcholine receptor. Neurosci Res. 2015;100:46-54 pubmed publisher
    ..mutation in V286L (V286L-TG), in the gene encoding the neuronal nicotinic acetylcholine receptor β2 subunit (CHRNB2) found in patients with autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE)...
  59. Arvaniti M, Jensen M, Soni N, Wang H, Klein A, Thiriet N, et al. Functional interaction between Lypd6 and nicotinic acetylcholine receptors. J Neurochem. 2016;138:806-20 pubmed publisher
    ..Our findings suggest that Lypd6 is a versatile inhibitor of cholinergic signaling in the brain. ..
  60. Anand R, Lindstrom J. Nucleotide sequence of the human nicotinic acetylcholine receptor beta 2 subunit gene. Nucleic Acids Res. 1990;18:4272 pubmed
  61. Arredondo J, Chernyavsky A, Marubio L, Beaudet A, Jolkovsky D, Pinkerton K, et al. Receptor-mediated tobacco toxicity: regulation of gene expression through alpha3beta2 nicotinic receptor in oral epithelial cells. Am J Pathol. 2005;166:597-613 pubmed
    ..This novel mechanism offers innovative solutions to ameliorate the tobacco-related cell damage and intercede in disease pathways, and may shed light on general mechanisms regulating and driving tobacco-related morbidity in human cells. ..
  62. Greenbaum L, Kanyas K, Karni O, Merbl Y, Olender T, Horowitz A, et al. Why do young women smoke? I. Direct and interactive effects of environment, psychological characteristics and nicotinic cholinergic receptor genes. Mol Psychiatry. 2006;11:312-22, 223 pubmed
    ..007-0.05) in CHRNB2 and nominal (P<0...
  63. Csala I, Egervari L, Dome P, Faludi G, Dome B, Lazary J. The possible role of maternal bonding style and CHRNB2 gene polymorphisms in nicotine dependence and related depressive phenotype. Prog Neuropsychopharmacol Biol Psychiatry. 2015;59:84-90 pubmed publisher
    ..disorders, we investigated the effects of a significant early life experience, maternal bonding style (MB) and CHRNB2 gene SNPs on smoking-related depression...
  64. Ganic E, Singh T, Luan C, Fadista J, Johansson J, Cyphert H, et al. MafA-Controlled Nicotinic Receptor Expression Is Essential for Insulin Secretion and Is Impaired in Patients with Type 2 Diabetes. Cell Rep. 2016;14:1991-2002 pubmed publisher
    ..we demonstrate that MAFA controls ANS-mediated insulin secretion by activating the transcription of nicotinic (ChrnB2 and ChrnB4) and adrenergic (Adra2A) receptor genes, which are integral parts of acetylcholine- and monoamine-..
  65. Wen L, Yang Z, Cui W, Li M. Crucial roles of the CHRNB3-CHRNA6 gene cluster on chromosome 8 in nicotine dependence: update and subjects for future research. Transl Psychiatry. 2016;6:e843 pubmed publisher
    ..Besides the CHRNA4, CHRNB2 and CHRNA5/A3/B4 cluster on chromosome 15, which has been investigated intensively, recent evidence from both ..
  66. Bertrand D, Elmslie F, Hughes E, Trounce J, Sander T, Bertrand S, et al. The CHRNB2 mutation I312M is associated with epilepsy and distinct memory deficits. Neurobiol Dis. 2005;20:799-804 pubmed
    ..Here, we report a new CHRNB2 mutation located in transmembrane region 3 (M3), outside the known ADNFLE mutation cluster...
  67. Cho Y, Yi S, Lim J, Kim D, Motamedi G. Autosomal dominant nocturnal frontal lobe epilepsy and mild memory impairment associated with CHRNB2 mutation I312M in the neuronal nicotinic acetylcholine receptor. Epilepsy Behav. 2008;13:361-5 pubmed publisher
    ..Genetic testing revealed the CHRNB2 mutation I312M in transmembrane region 3 (M3) of the neuronal nicotinic acetylcholine receptor...
  68. Lee W, Free C, Sine S. Binding to gating transduction in nicotinic receptors: Cys-loop energetically couples to pre-M1 and M2-M3 regions. J Neurosci. 2009;29:3189-99 pubmed publisher
    ..Thus, the extracellular beta1-beta2 and Cys-loops bridge the pre-M1 domain and M2-M3 linker to transduce agonist binding into channel gating. ..
  69. daCosta C, Michel Sturgeon R, Hamouda A, Blanton M, Baenziger J. Structural characterization and agonist binding to human ?4?2 nicotinic receptors. Biochem Biophys Res Commun. 2011;407:456-60 pubmed publisher
    ..By comparing ?4?2 and Torpedo receptors, we begin to delineate their structural similarities and differences. ..
  70. Groot Kormelink P, Luyten W. 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;400:309-14 pubmed
    ..Northern blots show expression of the nAChR subunits alpha3,7 and beta2,4 in the human neuroblastoma cell line SH-SY5Y, with intensity of the hybridisation signal decreasing in the order alpha3 > beta4 > beta2 > alpha7. ..
  71. Sallette J, Pons S, Devillers Thiery A, Soudant M, Prado de Carvalho L, Changeux J, et al. Nicotine upregulates its own receptors through enhanced intracellular maturation. Neuron. 2005;46:595-607 pubmed
  72. Voineskos S, De Luca V, Mensah A, Vincent J, Potapova N, Kennedy J. Association of alpha4beta2 nicotinic receptor and heavy smoking in schizophrenia. J Psychiatry Neurosci. 2007;32:412-6 pubmed
    ..We investigated 4 markers located in the CHRNA4 gene and 3 markers located in the CHRNB2 gene...
  73. Mitsis E, Cosgrove K, Staley J, Bois F, Frohlich E, Tamagnan G, et al. Age-related decline in nicotinic receptor availability with [(123)I]5-IA-85380 SPECT. Neurobiol Aging. 2009;30:1490-7 pubmed publisher
    ..These results in living human subjects corroborate postmortem reports of decline in high affinity nicotine binding with age and may aid in elucidating the role of beta(2)-nAChRs in cognitive aging. ..
  74. Wessel J, McDonald S, Hinds D, Stokowski R, Javitz H, Kennemer M, et al. Resequencing of nicotinic acetylcholine receptor genes and association of common and rare variants with the Fagerström test for nicotine dependence. Neuropsychopharmacology. 2010;35:2392-402 pubmed publisher
    ..with next-generation sequencing technology in 448 European-American participants of a smoking cessation trial, and CHRNB2 and CHRNA4 were resequenced by Sanger technology to improve sequence coverage...
  75. Hoft N, Stitzel J, Hutchison K, Ehringer M. CHRNB2 promoter region: association with subjective effects to nicotine and gene expression differences. Genes Brain Behav. 2011;10:176-85 pubmed publisher
    ..Two SNPs each in the CHRNB2, CHRNB3, CHRNA6 and CHRNA4 genes were examined...
  76. Kuryatov A, Berrettini W, Lindstrom J. Acetylcholine receptor (AChR) ?5 subunit variant associated with risk for nicotine dependence and lung cancer reduces (?4?2)??5 AChR function. Mol Pharmacol. 2011;79:119-25 pubmed publisher
    ..Thus, at the nicotine concentrations in smokers, negligible activation or desensitization of this subtype would occur. ..
  77. Mazzaferro S, Benallegue N, Carbone A, Gasparri F, Vijayan R, Biggin P, et al. Additional acetylcholine (ACh) binding site at alpha4/alpha4 interface of (alpha4beta2)2alpha4 nicotinic receptor influences agonist sensitivity. J Biol Chem. 2011;286:31043-54 pubmed publisher
  78. Jin X, McCollum M, Germann A, Akk G, Steinbach J. The E Loop of the Transmitter Binding Site Is a Key Determinant of the Modulatory Effects of Physostigmine on Neuronal Nicotinic ?4?2 Receptors. Mol Pharmacol. 2017;91:100-109 pubmed publisher
  79. Buisson B, Gopalakrishnan M, Arneric S, Sullivan J, Bertrand D. Human alpha4beta2 neuronal nicotinic acetylcholine receptor in HEK 293 cells: A patch-clamp study. J Neurosci. 1996;16:7880-91 pubmed
    ..2 to 2 mM. In contrast, however, a reduction of the evoked currents is observed when calcium concentration is elevated above 2 mM. ..
  80. Lueders K, Elliott R, 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;10:900-5 pubmed
    ..Using a 6-Mb YAC contig of Chr 1, we mapped the human beta2-nAChR gene, CHRNB2, to 1q21.3 with the order of markers cen, FLG, IVL, LOR, CHRNB2, tel...
  81. Duga S, Asselta R, Bonati M, Malcovati M, Dalprà L, Oldani A, et al. Mutational analysis of nicotinic acetylcholine receptor beta2 subunit gene (CHRNB2) in a representative cohort of Italian probands affected by autosomal dominant nocturnal frontal lobe epilepsy. Epilepsia. 2002;43:362-4 pubmed
    ..frontal lobe epilepsy (ADNFLE) probands were analyzed for the presence of V287L and V287M mutations in the CHRNB2 gene, which have been recently associated with the disease...
  82. Skorupska E, Rozycka A, Trzeciak W. [Molecular and genetic basis of idiopathic nocturnal frontal lobe epilepsy]. Neurol Neurochir Pol. 2002;36:513-25 pubmed
  83. Lin L, Jeanclos E, Treuil M, Braunewell K, Gundelfinger E, Anand R. The calcium sensor protein visinin-like protein-1 modulates the surface expression and agonist sensitivity of the alpha 4beta 2 nicotinic acetylcholine receptor. J Biol Chem. 2002;277:41872-8 pubmed
    ..Collectively, these results suggest that VILIP-1 represents a novel modulator of alpha4beta2 AChRs that increases their surface expression levels and agonist sensitivity in response to changes in the intracellular levels of calcium. ..
  84. Peng C, Chou I, Li C, Hsu Y, Tsai C, Tsai F. Association of the nicotinic receptor beta 2 subunit and febrile seizures. Pediatr Neurol. 2004;30:186-9 pubmed
    ..Mutations in neuronal nicotinic acetylcholine receptor beta 2 subunit have been associated with autosomal dominant nocturnal frontal lobe epilepsies...
  85. Kishi T, Ikeda M, Kitajima T, Yamanouchi Y, Kinoshita Y, Kawashima K, et al. Alpha4 and beta2 subunits of neuronal nicotinic acetylcholine receptor genes are not associated with methamphetamine-use disorder in the Japanese population. Ann N Y Acad Sci. 2008;1139:70-82 pubmed publisher
    ..Therefore, we conducted a genetic association analysis of the alpha4 gene (CHRNA4) and beta2 gene (CHRNB2) with methamphetamine (METH)-use disorder (191 cases and 753 controls)...
  86. Zouridakis M, Zisimopoulou P, Eliopoulos E, Poulas K, Tzartos S. Design and expression of human alpha7 nicotinic acetylcholine receptor extracellular domain mutants with enhanced solubility and ligand-binding properties. Biochim Biophys Acta. 2009;1794:355-66 pubmed publisher
  87. Rigbi A, Yakir A, Sarner Kanyas K, Pollak Y, Lerer B. Why do young women smoke? VI. A controlled study of nicotine effects on attention: pharmacogenetic interactions. Pharmacogenomics J. 2011;11:45-52 pubmed publisher
    ..This effect may be modified by a specific genetic make-up. Such individuals may be at increased risk for nicotine addiction and for greater difficulties in smoking cessation. ..
  88. Krishnamoorthy M, Gerwe B, Scharer C, Heimburg Molinaro J, Gregory F, Nash R, et al. Low ethanol concentration alters CHRNA5 RNA levels during early human development. Reprod Toxicol. 2010;30:489-92 pubmed publisher
    ..These results suggest that alcohol exposure can alter early neurologic development, which may favor addiction and other developmental abnormalities in unborn children. ..
  89. Swan G, Javitz H, Jack L, Wessel J, Michel M, Hinds D, et al. Varenicline for smoking cessation: nausea severity and variation in nicotinic receptor genes. Pharmacogenomics J. 2012;12:349-58 pubmed publisher
    ..2 years; 68.0% female). Evidence for significant association between common sequence variants in CHRNB2 and nausea severity was obtained after adjusting for age, gender and correlated tests (all P(ACT)<0.05)...