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nicotinic acetylcholine receptor β2 subunit

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Target not currently curated in GtoImmuPdb

Target id: 472

Nomenclature: nicotinic acetylcholine receptor β2 subunit

Family: Nicotinic acetylcholine receptors (nACh)

Gene and Protein Information Click here for help
Species TM AA Chromosomal Location Gene Symbol Gene Name Reference
Human 4 502 1q21.3 CHRNB2 cholinergic receptor nicotinic beta 2 subunit 1
Mouse 4 501 3 39.19 cM Chrnb2 cholinergic receptor nicotinic beta 2 subunit 3
Rat 4 500 2q34 Chrnb2 cholinergic receptor nicotinic beta 2 subunit 5
Previous and Unofficial Names Click here for help
neuronal acetylcholine receptor non-alpha-1 chain | neuronal acetylcholine receptor subunit beta-2 | Acrb2 | cholinergic receptor, nicotinic, beta 2 (neuronal) | cholinergic receptor, nicotinic beta 2 | cholinergic receptor
Database Links Click here for help
ChEMBL Target
DrugBank Target
Ensembl Gene
Entrez Gene
Human Protein Atlas
RefSeq Nucleotide
RefSeq Protein
Natural/Endogenous Ligands Click here for help
Immuno Process Associations
Immuno Process:  B cell (activation)
Immuno Process:  Immune regulation
Immuno Process:  Cellular signalling
Tissue Distribution Click here for help
Thalamus, medial habenula, interpedunclular nucleus, substantia nigra pars compacta, ventral tegmental area, hippocampus, hypothalamus, nuclei in midbrain and brainstem, cerebellum
Expression level:  High
Species:  Mouse
Technique:  in situ hybridisation
References:  10
Cerebral cortex
Expression level:  Medium
Species:  Mouse
Technique:  in situ hybridisation
References:  10
Thalamic nuclei, substantia nigra pars compacta, ventral tegmental, brain stem structures (superior and inferior colliculus)
Expression level:  High
Species:  Rat
Technique:  in situ hybridisation
References:  5,18
Cerebral cortex, olfactory regions, hippocampus, hypothalamus, amygdala, brainstem
Expression level:  Low
Species:  Rat
Technique:  in situ hybridisation
References:  5,18
Tissue Distribution Comments
The β2 subunit mRNA is expressed widely in the brain.Expression of β2 mRNA in rhesus monkey (Macaca mulatta) brain is similar to that described in rodents, with high levels throughout the thalamus, in the medial habenula, substantia nigra pars compacta and ventral tegmental area. However, higher levels of expression occur in cerebral cortex and hippocampus than in rodent brain. [7]

Expression of β2 mRNA in squirrel monkey (Saimiri sciureus) is similar to that described in rhesus monkey (Macaca mulatta) [16]
Physiological Consequences of Altering Gene Expression Click here for help
Knockout mice:- Lack high-affinity nicotine binding in the brain. Other effects include the loss of nicotine-induced dopamine and GABA release; loss of presynaptic nAChR activity; impaired development of the visual system; increased passive avoidance latency; loss of nicotine self-administration; reduced nicotine-induced antinociception; impaired learning and increased neurodegeneration in aged animals.
Species:  Mouse
Tissue:  in vivo
Technique:  Gene Knockout
References:  9,11,14-15,17,20
Extensive autonomic dysfunction is observed in mice lacking both the β2 and β4 subunits. Double knockout mice survive to birth but have impaired growth and increased perinatal mortality.
Species:  Mouse
Tissue:  in vivo
Technique:  Gene Knockout
References:  19
Clinically-Relevant Mutations and Pathophysiology Click here for help
Disease:  Epilepsy, nocturnal frontal lobe, 3; ENFL3
Synonyms: Autosomal dominant nocturnal frontal lobe epilepsy [Orphanet: ORPHA98784]
OMIM: 605375
Orphanet: ORPHA98784
References:  2,4,6,8,13
Click column headers to sort
Type Species Amino acid change Nucleotide change Description Reference
Missense Human V287L 4
Missense Human V287M 6,12
Missense Human L301V 8
Missense Human V308A 8
Missense Human I312M 2


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1. Anand R, Lindstrom J. (1990) Nucleotide sequence of the human nicotinic acetylcholine receptor beta 2 subunit gene. Nucleic Acids Res, 18 (14): 4272. [PMID:2377478]

2. Bertrand D, Elmslie F, Hughes E, Trounce J, Sander T, Bertrand S, Steinlein OK. (2005) The CHRNB2 mutation I312M is associated with epilepsy and distinct memory deficits. Neurobiol Dis, 20 (3): 799-804. [PMID:15964197]

3. Bessis A, Simon-Chazottes D, Devillers-Thiéry A, Guénet JL, Changeux JP. (1990) Chromosomal localization of the mouse genes coding for alpha 2, alpha 3, alpha 4 and beta 2 subunits of neuronal nicotinic acetylcholine receptor. FEBS Lett, 264 (1): 48-52. [PMID:2338144]

4. De Fusco M, Becchetti A, Patrignani A, Annesi G, Gambardella A, Quattrone A, Ballabio A, Wanke E, Casari G. (2000) The nicotinic receptor beta 2 subunit is mutant in nocturnal frontal lobe epilepsy. Nat Genet, 26 (3): 275-6. [PMID:11062464]

5. Deneris ES, Connolly J, Boulter J, Wada E, Wada K, Swanson LW, Patrick J, Heinemann S. (1988) Primary structure and expression of beta 2: a novel subunit of neuronal nicotinic acetylcholine receptors. Neuron, 1 (1): 45-54. [PMID:3272154]

6. Duga S, Asselta R, Bonati MT, Malcovati M, Dalprà L, Oldani A, Zucconi M, Ferini-Strambi L, Tenchini ML. (2002) 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, 43 (4): 362-4. [PMID:11952766]

7. Han ZY, Le Novère N, Zoli M, Hill JA, Champtiaux N, Changeux JP. (2000) Localization of nAChR subunit mRNAs in the brain of Macaca mulatta. Eur J Neurosci, 12 (10): 3664-74. [PMID:11029636]

8. Hoda JC, Gu W, Friedli M, Phillips HA, Bertrand S, Antonarakis SE, Goudie D, Roberts R, Scheffer IE, Marini C et al.. (2008) Human nocturnal frontal lobe epilepsy: pharmocogenomic profiles of pathogenic nicotinic acetylcholine receptor beta-subunit mutations outside the ion channel pore. Mol Pharmacol, 74 (2): 379-91. [PMID:18456869]

9. Lu Y, Grady S, Marks MJ, Picciotto M, Changeux JP, Collins AC. (1998) Pharmacological characterization of nicotinic receptor-stimulated GABA release from mouse brain synaptosomes. J Pharmacol Exp Ther, 287 (2): 648-57. [PMID:9808692]

10. Marks MJ, Pauly JR, Gross SD, Deneris ES, Hermans-Borgmeyer I, Heinemann SF, Collins AC. (1992) Nicotine binding and nicotinic receptor subunit RNA after chronic nicotine treatment. J Neurosci, 12 (7): 2765-84. [PMID:1613557]

11. Marubio LM, del Mar Arroyo-Jimenez M, Cordero-Erausquin M, Léna C, Le Novère N, de Kerchove d'Exaerde A, Huchet M, Damaj MI, Changeux JP. (1999) Reduced antinociception in mice lacking neuronal nicotinic receptor subunits. Nature, 398 (6730): 805-10. [PMID:10235262]

12. Philips A, Lesage S, Gingras R, Maira MH, Gauthier Y, Hugo P, Drouin J. (1997) Novel dimeric Nur77 signaling mechanism in endocrine and lymphoid cells. Mol Cell Biol, 17 (10): 5946-51. [PMID:9315652]

13. Phillips HA, Favre I, Kirkpatrick M, Zuberi SM, Goudie D, Heron SE, Scheffer IE, Sutherland GR, Berkovic SF, Bertrand D et al.. (2001) CHRNB2 is the second acetylcholine receptor subunit associated with autosomal dominant nocturnal frontal lobe epilepsy. Am J Hum Genet, 68 (1): 225-31. [PMID:11104662]

14. Picciotto MR, Zoli M, Léna C, Bessis A, Lallemand Y, Le Novère N, Vincent P, Pich EM, Brûlet P, Changeux JP. (1995) Abnormal avoidance learning in mice lacking functional high-affinity nicotine receptor in the brain. Nature, 374 (6517): 65-7. [PMID:7870173]

15. Picciotto MR, Zoli M, Rimondini R, Léna C, Marubio LM, Pich EM, Fuxe K, Changeux JP. (1998) Acetylcholine receptors containing the beta2 subunit are involved in the reinforcing properties of nicotine. Nature, 391 (6663): 173-7. [PMID:9428762]

16. Quik M, Polonskaya Y, Gillespie A, Jakowec M, Lloyd GK, Langston JW. (2000) Localization of nicotinic receptor subunit mRNAs in monkey brain by in situ hybridization. J Comp Neurol, 425 (1): 58-69. [PMID:10940942]

17. Rossi FM, Pizzorusso T, Porciatti V, Marubio LM, Maffei L, Changeux JP. (2001) Requirement of the nicotinic acetylcholine receptor beta 2 subunit for the anatomical and functional development of the visual system. Proc Natl Acad Sci USA, 98 (11): 6453-8. [PMID:11344259]

18. Wada E, Wada K, Boulter J, Deneris E, Heinemann S, Patrick J, Swanson LW. (1989) Distribution of alpha 2, alpha 3, alpha 4, and beta 2 neuronal nicotinic receptor subunit mRNAs in the central nervous system: a hybridization histochemical study in the rat. J Comp Neurol, 284 (2): 314-35. [PMID:2754038]

19. Xu W, Orr-Urtreger A, Nigro F, Gelber S, Sutcliffe CB, Armstrong D, Patrick JW, Role LW, Beaudet AL, De Biasi M. (1999) Multiorgan autonomic dysfunction in mice lacking the beta2 and the beta4 subunits of neuronal nicotinic acetylcholine receptors. J Neurosci, 19 (21): 9298-305. [PMID:10531434]

20. Zoli M, Picciotto MR, Ferrari R, Cocchi D, Changeux JP. (1999) Increased neurodegeneration during ageing in mice lacking high-affinity nicotine receptors. EMBO J, 18 (5): 1235-44. [PMID:10064590]


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