nicotinic acetylcholine receptor β2 subunit
Target id: 472
Nomenclature: nicotinic acetylcholine receptor β2 subunit
Contents:
Gene and Protein Information  |
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| 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 |
| 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 |
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| Alphafold | P17787 (Hs), Q9ERK7 (Mm), P12390 (Rn) |
| CATH/Gene3D | 2.70.170.10 |
| ChEMBL Target | CHEMBL1883 (Hs), CHEMBL3883314 (Mm), CHEMBL3885611 (Mm), CHEMBL3885610 (Mm), CHEMBL3301382 (Mm), CHEMBL1907596 (Rn), CHEMBL3137275 (Rn), CHEMBL1907592 (Rn), CHEMBL1907587 (Rn) |
| DrugBank Target | P17787 (Hs) |
| Ensembl Gene | ENSG00000160716 (Hs), ENSMUSG00000027950 (Mm), ENSRNOG00000020778 (Rn) |
| Entrez Gene | 1141 (Hs), 11444 (Mm), 54239 (Rn) |
| Human Protein Atlas | ENSG00000160716 (Hs) |
| KEGG Gene | hsa:1141 (Hs), mmu:11444 (Mm), rno:54239 (Rn) |
| OMIM | 118507 (Hs) |
| Orphanet | ORPHA165966 (Hs) |
| Pharos | P17787 (Hs) |
| RefSeq Nucleotide | NM_000748 (Hs), NM_009602 (Mm), NM_019297 (Rn) |
| RefSeq Protein | NP_000739 (Hs), NP_033732 (Mm), NP_062170 (Rn) |
| UniProtKB | P17787 (Hs), Q9ERK7 (Mm), P12390 (Rn) |
| Wikipedia | CHRNB2 (Hs) |
| Natural/Endogenous Ligands |
| acetylcholine |
| Immuno Process Associations | ||
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| Tissue Distribution
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| 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] |
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| Physiological Consequences of Altering Gene Expression
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| Clinically-Relevant Mutations and Pathophysiology
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References
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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