CHRNB2

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Cholinergic receptor, nicotinic, beta 2 (neuronal)
Identifiers
Symbol(s) CHRNB2; EFNL3; nAChRB2
External IDs OMIM: 118507 MGI: 87891 HomoloGene: 595
RNA expression pattern

More reference expression data
Orthologs
Human Mouse
Entrez 1141 11444
Ensembl ENSG00000160716 ENSMUSG00000027950
Uniprot P17787 Q61943
Refseq NM_000748 (mRNA)
NP_000739 (protein)		 NM_009602 (mRNA)
NP_033732 (protein)
Location Chr 1: 152.81 - 152.82 Mb Chr 3: 89.84 - 89.85 Mb
Pubmed search [1] [2]

Cholinergic receptor, nicotinic, beta 2 (neuronal), also known as CHRNB2, is a human gene.[1]

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.[1]

Contents

[edit] See also

[edit] References

  1. ^ a b Entrez Gene: CHRNB2 cholinergic receptor, nicotinic, beta 2 (neuronal).

[edit] Further reading

  • Skorupska E, Rózycka A, Trzeciak WH (2002). "[Molecular and genetic basis of idiopathic nocturnal frontal lobe epilepsy]". Neurol. Neurochir. Pol. 36 (3): 513–25. PMID 12185808. 
  • Bracci L, Lozzi L, Rustici M, Neri P (1992). "Binding of HIV-1 gp120 to the nicotinic receptor.". FEBS Lett. 311 (2): 115–8. PMID 1397297. 
  • Anand R, Lindstrom J (1992). "Chromosomal localization of seven neuronal nicotinic acetylcholine receptor subunit genes in humans.". Genomics 13 (4): 962–7. PMID 1505988. 
  • 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. 
  • Elliott KJ, Ellis SB, Berckhan KJ, et al. (1997). "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. 7 (3): 217–28. PMID 8906617. 
  • Groot Kormelink PJ, Luyten WH (1997). "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. 400 (3): 309–14. PMID 9009220. 
  • Rempel N, Heyers S, Engels H, et al. (1999). "The structures of the human neuronal nicotinic acetylcholine receptor beta2- and alpha3-subunit genes (CHRNB2 and CHRNA3).". Hum. Genet. 103 (6): 645–53. PMID 9921897. 
  • Lueders KK, Elliott RW, Marenholz I, et al. (1999). "Genomic organization and mapping of the human and mouse neuronal beta2-nicotinic acetylcholine receptor genes.". Mamm. Genome 10 (9): 900–5. PMID 10441742. 
  • Steinlein OK (2000). "Neuronal nicotinic receptors in human epilepsy.". Eur. J. Pharmacol. 393 (1-3): 243–7. PMID 10771020. 
  • De Fusco M, Becchetti A, Patrignani A, et al. (2000). "The nicotinic receptor beta 2 subunit is mutant in nocturnal frontal lobe epilepsy.". Nat. Genet. 26 (3): 275–6. doi:10.1038/81566. PMID 11062464. 
  • Phillips HA, Favre I, Kirkpatrick M, 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. 
  • Samochocki M, Zerlin M, Jostock R, et al. (2001). "Galantamine is an allosterically potentiating ligand of the human alpha4/beta2 nAChR.". Acta Neurol. Scand., Suppl. 176: 68–73. PMID 11261808. 
  • Engidawork E, Gulesserian T, Balic N, et al. (2002). "Changes in nicotinic acetylcholine receptor subunits expression in brain of patients with Down syndrome and Alzheimer's disease.". J. Neural Transm. Suppl. (61): 211–22. PMID 11771745. 
  • Lueders KK, Hu S, McHugh L, et al. (2002). "Genetic and functional analysis of single nucleotide polymorphisms in the beta2-neuronal nicotinic acetylcholine receptor gene (CHRNB2).". Nicotine Tob. Res. 4 (1): 115–25. doi:10.1080/14622200110098419. PMID 11906688. 
  • Duga S, Asselta R, Bonati MT, et al. (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. 
  • Heeschen C, Weis M, Aicher A, et al. (2002). "A novel angiogenic pathway mediated by non-neuronal nicotinic acetylcholine receptors.". J. Clin. Invest. 110 (4): 527–36. PMID 12189247. 
  • Lin L, Jeanclos EM, Treuil M, et al. (2003). "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. 277 (44): 41872–8. doi:10.1074/jbc.M206857200. PMID 12202488. 
  • Kawamata J, Shimohama S (2002). "Association of novel and established polymorphisms in neuronal nicotinic acetylcholine receptors with sporadic Alzheimer's disease.". J. Alzheimers Dis. 4 (2): 71–6. PMID 12214130. 
  • Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932. 

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