cholinergic receptor nicotinic beta 2 subunit
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The CHRNB2 gene provides instructions for making one part (subunit) of a larger protein complex called a nicotinic acetylcholine receptor (nAChR). Each nAChR complex is made up of a combination of five subunits, usually two alpha (α) and three beta (β) subunits. Many different combinations are possible, and the characteristics of each nAChR complex depend on its specific subunits. In the brain, the complex most commonly consists of two α4 subunits and three β2 subunits. The CHRNB2 gene is responsible for producing the β2 subunit.
Normal function
The CHRNB2 gene provides instructions for making one part (subunit) of a larger protein complex called a nicotinic acetylcholine receptor (nAChR). Each nAChR complex is made up of a combination of five subunits, usually two alpha (α) and three beta (β) subunits. Many different combinations are possible, and the characteristics of each nAChR complex depend on its specific subunits. In the brain, the complex most commonly consists of two α4 subunits and three β2 subunits. The CHRNB2 gene is responsible for producing the β2 subunit.
In the brain, nAChR proteins are widely distributed and play an important role in chemical signaling between nerve cells (neurons). The nAChR acts as a channel, allowing charged atoms (ions), including calcium, sodium, and potassium, to cross the cell membrane. These channels open when they attach to a chemical messenger (neurotransmitter) called acetylcholine. The channels also open in response to nicotine, the addictive substance in tobacco.
Communication between neurons depends on neurotransmitters, which are released from one neuron and taken up by neighboring neurons. The release and uptake of these chemicals are tightly regulated to ensure that signals are passed efficiently and accurately between neurons. Researchers believe that nAChR channels play an important role in controlling the normal release and uptake of neurotransmitters.
A wide range of brain functions depend on nAChR channels, including sleep and arousal, fatigue, anxiety, attention, pain perception, and memory. The channels are also active before birth, which suggests that they are involved in early brain development.
Conditions referring to this gene or chromosome
Other names
acetylcholine receptor, neuronal nicotinic, beta-2 subunit
cholinergic receptor, nicotinic beta 2
cholinergic receptor, nicotinic, beta 2 (neuronal)
cholinergic receptor, nicotinic, beta polypeptide 2 (neuronal)
EFNL3
nAChRB2
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Leitura adicional e referências
- cholinergic receptor nicotinic beta 2 subunit; MedlinePlus, National Library of Medicine.
- Arneric SP, Holladay M, Williams M. Neuronal nicotinic receptors: a perspective on two decades of drug discovery research. Biochem Pharmacol. 2007 Oct 15;74(8):1092-101. doi: 10.1016/j.bcp.2007.06.033. Epub 2007 Jun 26.
- Bertrand D, Elmslie F, Hughes E, Trounce J, Sander T, Bertrand S, Steinlein OK. The CHRNB2 mutation I312M is associated with epilepsy and distinct memory deficits. Neurobiol Dis. 2005 Dec;20(3):799-804. doi: 10.1016/j.nbd.2005.05.013. Epub 2005 Jun 17.
- Bertrand D, Picard F, Le Hellard S, Weiland S, Favre I, Phillips H, Bertrand S, Berkovic SF, Malafosse A, Mulley J. How mutations in the nAChRs can cause ADNFLE epilepsy. Epilepsia. 2002;43 Suppl 5:112-22. doi: 10.1046/j.1528-1157.43.s.5.16.x.
- Bertrand S, Weiland S, Berkovic SF, Steinlein OK, Bertrand D. Properties of neuronal nicotinic acetylcholine receptor mutants from humans suffering from autosomal dominant nocturnal frontal lobe epilepsy. Br J Pharmacol. 1998 Oct;125(4):751-60. doi: 10.1038/sj.bjp.0702154.
- Cho YW, Yi SD, Lim JG, Kim DK, Motamedi GK. Autosomal dominant nocturnal frontal lobe epilepsy and mild memory impairment associated with CHRNB2 mutation I312M in the neuronal nicotinic acetylcholine receptor. Epilepsy Behav. 2008 Aug;13(2):361-5. doi: 10.1016/j.yebeh.2008.04.017. Epub 2008 Jun 4.
- 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. doi: 10.1038/81566.
- di Corcia G, Blasetti A, De Simone M, Verrotti A, Chiarelli F. Recent advances on autosomal dominant nocturnal frontal lobe epilepsy: "understanding the nicotinic acetylcholine receptor (nAChR)". Eur J Paediatr Neurol. 2005;9(2):59-66. doi: 10.1016/j.ejpn.2004.12.006.
- Hoda JC, Gu W, Friedli M, Phillips HA, Bertrand S, Antonarakis SE, Goudie D, Roberts R, Scheffer IE, Marini C, Patel J, Berkovic SF, Mulley JC, Steinlein OK, Bertrand D. Human nocturnal frontal lobe epilepsy: pharmocogenomic profiles of pathogenic nicotinic acetylcholine receptor beta-subunit mutations outside the ion channel pore. Mol Pharmacol. 2008 Aug;74(2):379-91. doi: 10.1124/mol.107.044545. Epub 2008 May 2.
- Kurahashi H, Hirose S. Autosomal Dominant Sleep-Related Hypermotor (Hyperkinetic) Epilepsy. 2002 May 16 [updated 2023 Mar 23]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK1169/
- Marini C, Guerrini R. The role of the nicotinic acetylcholine receptors in sleep-related epilepsy. Biochem Pharmacol. 2007 Oct 15;74(8):1308-14. doi: 10.1016/j.bcp.2007.06.030. Epub 2007 Jun 23.
- 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. doi: 10.1086/316946. Epub 2000 Dec 5.
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