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Cholinergic receptor, nicotinic, beta 2

Neuronal acetylcholine receptors are homo- or heteropentameric complexes composed of homologous alpha and beta subunits. They belong to a superfamily of ligand-gated ion channels which allow the flow of sodium and potassium across the plasma membrane in response to ligands such as acetylcholine and nicotine. This gene encodes one of several beta subunits. Mutations in this gene are associated with autosomal dominant nocturnal frontal lobe epilepsy. [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: CHRNA4, beta2, HAD, AGE, CHRNA7
Papers on CHRNB2
Megakaryocytes and platelets express nicotinic acetylcholine receptors but nicotine does not affect megakaryopoiesis or platelet function.
Bugert et al., Mannheim, Germany. In Platelets, Jan 2016
CHRNA7, CHRNA4 and CHRNB2 gene transcripts and the corresponding proteins could be identified in CBMK during all stages of differentiation.
Generalized epilepsy in a family with basal ganglia calcifications and mutations in SLC20A2 and CHRNB2.
Selmer et al., Oslo, Norway. In Eur J Med Genet, Nov 2015
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 mother.
Spontaneous epileptic seizures in transgenic rats harboring a human ADNFLE missense mutation in the β2-subunit of the nicotinic acetylcholine receptor.
Ueno et al., Hirosaki, Japan. In Neurosci Res, Nov 2015
We generated a transgenic rat strain with a missense 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).
Effect of genetic variation in the nicotinic receptor genes on risk for posttraumatic stress disorder.
Beckham et al., Durham, United States. In Psychiatry Res, Oct 2015
The present study examined the association between genetic 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).
Genetic Risk Determinants for Cigarette Smoking Dependence in Mexican Mestizo Families.
Mutchinick et al., Mexico. In Nicotine Tob Res, Oct 2015
METHODS: Three hundred sixty-four Mexican Mestizo Mexico City residents from 87 families 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.
Genetic models of focal epilepsies.
Baulac et al., Paris, France. In J Neurosci Methods, Jul 2015
In this article, 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 dominant epilepsy with auditory features (ADEAF).
CHRNA4 rs1044396 is associated with smoking cessation in varenicline therapy.
Santos et al., São Paulo, Brazil. In Front Genet, 2014
In the context of personalized medicine, the main aim of the present study was to evaluate whether the CHRNA4 and CHRNB2 polymorphisms are associated with response to smoking cessation therapies in patients from a smoker assistance program.
Mutational analysis of CHRNB2, CHRNA2 and CHRNA4 genes in Chinese population with autosomal dominant nocturnal frontal lobe epilepsy.
Zhang et al., Guangzhou, China. In Int J Clin Exp Med, 2014
OBJECTIVE: The present study aims to investigate the gene mutations of CHRNB2, CHRNA2 and CHRNA4 in Chinese population with autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE).
Pharmacological Characterisation of Nicotinic Acetylcholine Receptors Expressed in Human iPSC-Derived Neurons.
Ursu et al., London, United Kingdom. In Plos One, 2014
Gene expression analysis indicated the presence of transcripts encoding several nAChR subunits, with highest levels detected for α3-α7, β1, β2 and β4 subunits (encoded by CHRNA3-CHRNA7, CHRNB1, CHRNB2 and CHRNB4 genes).
Genetics advances in autosomal dominant focal epilepsies: focus on DEPDC5.
Baulac, Paris, France. In Prog Brain Res, 2013
Molecular genetic advances in inherited focal epilepsies have pinpointed their genetic heterogeneity and the fact that they are 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 receptor, and a potassium channel subunit); neuronal secreted protein (LGI1-encoding epitempin) has been linked to autosomal dominant epilepsy with auditory features; and mTORC1-repressor DEPDC5 (DEP domain-containing protein 5) gene has recently been reported in a broad spectrum of inherited focal epilepsies (ADNFLE, FTLE, FFEVF).
Importance of the nicotinic acetylcholine receptor system in the prefrontal cortex.
Bertrand et al., Menlo Park, United States. In Biochem Pharmacol, 2013
Relevance of these ligand gated channels in higher brain function is further supported by the association of cognitive deficits reported in humans with mutations in CHRNB2 or CHRNA7 the genes encoding for the nicotinic receptor β2 and α7 subunits, respectively.
Structural characterization of binding mode of smoking cessation drugs to nicotinic acetylcholine receptors through study of ligand complexes with acetylcholine-binding protein.
Sixma et al., Amsterdam, Netherlands. In J Biol Chem, 2012
Data indicate that cytisine, varenicline, and nicotine are all high affinity binders for the alpha4beta2 nAChRs, but all display lower affinity for the alpha7 subtype receptor.
Induction of dendritic spines by β2-containing nicotinic receptors.
Berg et al., San Diego, United States. In J Neurosci, 2012
beta2-nAChRs are essential for acquisition of normal numbers of dendritic spines during development.
Varenicline blocks β2*-nAChR-mediated response and activates β4*-nAChR-mediated responses in mice in vivo.
Grady et al., Boulder, United States. In Nicotine Tob Res, 2012
Varenicline acts as a functional antagonist of Chrnb2, blocking certain effects of nicotine.
Impaired auditory discrimination learning following perinatal nicotine exposure or β2 nicotinic acetylcholine receptor subunit deletion.
Picciotto et al., New Haven, United States. In Behav Brain Res, 2012
mice which lack nAChRs containing the beta2 subunit (beta2* nAChRs) exhibit compromised auditory discrimination, suggesting that beta2* nAChRs are necessary for normal auditory discrimination or that beta2* nAChRs play a critical role in auditory pathway development.
Changes in temperature have opposing effects on current amplitude in α7 and α4β2 nicotinic acetylcholine receptors.
Millar et al., London, United Kingdom. In Plos One, 2011
examined the effect of temperature on the electrophysiological properties of three neuronal nicotinic acetylcholine receptor subtypes: homomeric alpha7 nAChR, heteromeric alpha4beta2 nAChR and on alpha7 nAChRs containing a transmembrane mutation (L247T)
Advances on the genetics of Mendelian idiopathic epilepsies.
Baulac et al., Paris, France. In Clin Lab Med, 2010
Since 1995, positional cloning strategies in multigenerational 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.
Systematic meta-analyses of Alzheimer disease genetic association studies: the AlzGene database.
Tanzi et al., United States. In Nat Genet, 2007
In addition to identifying the epsilon4 allele 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 summary odds ratios (ranging from 1.11-1.38 for risk alleles and 0.92-0.67 for protective alleles).
The nicotinic receptor beta 2 subunit is mutant in nocturnal frontal lobe epilepsy.
Casari et al., Milano, Italy. In Nat Genet, 2000
The newly identified locus associated with ENFL3 harbours several candidate genes, including CHRNB2 (ref.
Nicotinic acetylcholine receptor mutations
Hirose et al., Bethesda, United States. In Unknown Journal, 0001
This rare genetic syndrome can be caused by mutations in at least two different subunits genes of the neuronal nicotinic acetylcholine receptor (nAChR), CHRNA4 and CHRNB2.
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