CHRNB2: Difference between revisions

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{{Infobox_gene}}
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'''Neuronal acetylcholine receptor subunit beta-2''' is a [[protein]] that in humans is encoded by the ''CHRNB2'' [[gene]].<ref name="pmid1505988">{{cite journal | vauthors = Anand R, Lindstrom J | title = Chromosomal localization of seven neuronal nicotinic acetylcholine receptor subunit genes in humans | journal = Genomics | volume = 13 | issue = 4 | pages = 962–7 |date=Sep 1992 | pmid = 1505988 | pmc =  | doi =10.1016/0888-7543(92)90008-G }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: CHRNB2 cholinergic receptor, nicotinic, beta 2 (neuronal)| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1141| accessdate = }}</ref>
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{{GNF_Protein_box
| image =
| image_source =
| PDB =
| Name = Cholinergic receptor, nicotinic, beta 2 (neuronal)
| HGNCid = 1962
| Symbol = CHRNB2
| AltSymbols =; EFNL3; nAChRB2
| OMIM = 118507
| ECnumber =
| Homologene = 595
| MGIid = 87891
  | GeneAtlas_image1 = PBB_GE_CHRNB2_206635_at_tn.png
| Function = {{GNF_GO|id=GO:0004889 |text = nicotinic acetylcholine-activated cation-selective channel activity}} {{GNF_GO|id=GO:0005216 |text = ion channel activity}} {{GNF_GO|id=GO:0005230 |text = extracellular ligand-gated ion channel activity}} {{GNF_GO|id=GO:0015464 |text = acetylcholine receptor activity}}
| Component = {{GNF_GO|id=GO:0005892 |text = nicotinic acetylcholine-gated receptor-channel complex}} {{GNF_GO|id=GO:0016021 |text = integral to membrane}} {{GNF_GO|id=GO:0045211 |text = postsynaptic membrane}}
  | Process = {{GNF_GO|id=GO:0006811 |text = ion transport}} {{GNF_GO|id=GO:0007165 |text = signal transduction}} {{GNF_GO|id=GO:0007600 |text = sensory perception}} {{GNF_GO|id=GO:0007613 |text = memory}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 1141
    | Hs_Ensembl = ENSG00000160716
    | Hs_RefseqProtein = NP_000739
    | Hs_RefseqmRNA = NM_000748
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 1
    | Hs_GenLoc_start = 152806881
    | Hs_GenLoc_end = 152819126
    | Hs_Uniprot = P17787
    | Mm_EntrezGene = 11444
    | Mm_Ensembl = ENSMUSG00000027950
    | Mm_RefseqmRNA = NM_009602
    | Mm_RefseqProtein = NP_033732
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 3
    | Mm_GenLoc_start = 89839375
    | Mm_GenLoc_end = 89850512
    | Mm_Uniprot = Q61943
  }}
}}
'''Cholinergic receptor, nicotinic, beta 2 (neuronal)''', also known as '''CHRNB2''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: CHRNB2 cholinergic receptor, nicotinic, beta 2 (neuronal)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1141| accessdate = }}</ref>


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{{PBB_Summary
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| section_title =  
| section_title =  
| summary_text = 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.<ref name="entrez">{{cite web | title = Entrez Gene: CHRNB2 cholinergic receptor, nicotinic, beta 2 (neuronal)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1141| accessdate = }}</ref>
| summary_text = 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.<ref name="entrez" />
}}
}}
== Interactive pathway map ==
{{NicotineDopaminergicActivity_WP1602|highlight=CHRNB2}}


==See also==
==See also==
Line 58: Line 15:


==References==
==References==
{{reflist|2}}
{{reflist}}


==Further reading==
==Further reading==
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{{PBB_Further_reading  
| citations =  
| citations =  
*{{cite journal  | author=Skorupska E, Rózycka A, Trzeciak WH |title=[Molecular and genetic basis of idiopathic nocturnal frontal lobe epilepsy] |journal=Neurol. Neurochir. Pol. |volume=36 |issue= 3 |pages= 513-25 |year= 2002 |pmid= 12185808 |doi=  }}
*{{cite journal  | vauthors=Skorupska E, Rózycka A, Trzeciak WH |title=[Molecular and genetic basis of idiopathic nocturnal frontal lobe epilepsy] |journal=Neurol. Neurochir. Pol. |volume=36 |issue= 3 |pages= 513–25 |year= 2002 |pmid= 12185808 |doi=  }}
*{{cite journal  | author=Bracci L, Lozzi L, Rustici M, Neri P |title=Binding of HIV-1 gp120 to the nicotinic receptor. |journal=FEBS Lett. |volume=311 |issue= 2 |pages= 115-8 |year= 1992 |pmid= 1397297 |doi=  }}
*{{cite journal  | vauthors=Bracci L, Lozzi L, Rustici M, Neri P |title=Binding of HIV-1 gp120 to the nicotinic receptor |journal=FEBS Lett. |volume=311 |issue= 2 |pages= 115–8 |year= 1992 |pmid= 1397297 |doi=10.1016/0014-5793(92)81380-5 }}
*{{cite journal  | author=Anand R, Lindstrom J |title=Chromosomal localization of seven neuronal nicotinic acetylcholine receptor subunit genes in humans. |journal=Genomics |volume=13 |issue= 4 |pages= 962-7 |year= 1992 |pmid= 1505988 |doi=  }}
*{{cite journal  | vauthors=Anand R, Lindstrom J |title=Nucleotide sequence of the human nicotinic acetylcholine receptor beta 2 subunit gene |journal=Nucleic Acids Res. |volume=18 |issue= 14 |pages= 4272 |year= 1990 |pmid= 2377478 |doi=10.1093/nar/18.14.4272  | pmc=331211 }}
*{{cite journal  | author=Anand R, Lindstrom J |title=Nucleotide sequence of the human nicotinic acetylcholine receptor beta 2 subunit gene. |journal=Nucleic Acids Res. |volume=18 |issue= 14 |pages= 4272 |year= 1990 |pmid= 2377478 |doi=  }}
*{{cite journal  | vauthors=Elliott KJ, Ellis SB, Berckhan KJ |title=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 |journal=J. Mol. Neurosci. |volume=7 |issue= 3 |pages= 217–28 |year= 1997 |pmid= 8906617 |doi=10.1007/BF02736842 |display-authors=etal}}
*{{cite journal  | author=Elliott KJ, Ellis SB, Berckhan KJ, ''et al.'' |title=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. |journal=J. Mol. Neurosci. |volume=7 |issue= 3 |pages= 217-28 |year= 1997 |pmid= 8906617 |doi=  }}
*{{cite journal  | vauthors=Groot Kormelink PJ, Luyten WH |title=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 |journal=FEBS Lett. |volume=400 |issue= 3 |pages= 309–14 |year= 1997 |pmid= 9009220 |doi=10.1016/S0014-5793(96)01383-X }}
*{{cite journal  | author=Groot Kormelink PJ, Luyten WH |title=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. |journal=FEBS Lett. |volume=400 |issue= 3 |pages= 309-14 |year= 1997 |pmid= 9009220 |doi=  }}
*{{cite journal  | vauthors=Rempel N, Heyers S, Engels H |title=The structures of the human neuronal nicotinic acetylcholine receptor beta2- and alpha3-subunit genes (CHRNB2 and CHRNA3) |journal=Hum. Genet. |volume=103 |issue= 6 |pages= 645–53 |year= 1999 |pmid= 9921897 |doi=10.1007/s004390050885 |display-authors=etal}}
*{{cite journal  | author=Rempel N, Heyers S, Engels H, ''et al.'' |title=The structures of the human neuronal nicotinic acetylcholine receptor beta2- and alpha3-subunit genes (CHRNB2 and CHRNA3). |journal=Hum. Genet. |volume=103 |issue= 6 |pages= 645-53 |year= 1999 |pmid= 9921897 |doi=  }}
*{{cite journal  | vauthors=Lueders KK, Elliott RW, Marenholz I |title=Genomic organization and mapping of the human and mouse neuronal beta2-nicotinic acetylcholine receptor genes |journal=Mamm. Genome |volume=10 |issue= 9 |pages= 900–5 |year= 1999 |pmid= 10441742 |doi=10.1007/s003359901111 |display-authors=etal}}
*{{cite journal  | author=Lueders KK, Elliott RW, Marenholz I, ''et al.'' |title=Genomic organization and mapping of the human and mouse neuronal beta2-nicotinic acetylcholine receptor genes. |journal=Mamm. Genome |volume=10 |issue= 9 |pages= 900-5 |year= 1999 |pmid= 10441742 |doi=  }}
*{{cite journal  | author=Steinlein OK |title=Neuronal nicotinic receptors in human epilepsy |journal=Eur. J. Pharmacol. |volume=393 |issue= 1–3 |pages= 243–7 |year= 2000 |pmid= 10771020 |doi=10.1016/S0014-2999(00)00065-0 }}
*{{cite journal  | author=Steinlein OK |title=Neuronal nicotinic receptors in human epilepsy. |journal=Eur. J. Pharmacol. |volume=393 |issue= 1-3 |pages= 243-7 |year= 2000 |pmid= 10771020 |doi= }}
*{{cite journal  | vauthors=De Fusco M, Becchetti A, Patrignani A |title=The nicotinic receptor beta 2 subunit is mutant in nocturnal frontal lobe epilepsy |journal=Nat. Genet. |volume=26 |issue= 3 |pages= 275–6 |year= 2000 |pmid= 11062464 |doi= 10.1038/81566 |display-authors=etal}}
*{{cite journal  | author=De Fusco M, Becchetti A, Patrignani A, ''et al.'' |title=The nicotinic receptor beta 2 subunit is mutant in nocturnal frontal lobe epilepsy. |journal=Nat. Genet. |volume=26 |issue= 3 |pages= 275-6 |year= 2000 |pmid= 11062464 |doi= 10.1038/81566 }}
*{{cite journal  | vauthors=Phillips HA, Favre I, Kirkpatrick M |title=CHRNB2 is the second acetylcholine receptor subunit associated with autosomal dominant nocturnal frontal lobe epilepsy |journal=Am. J. Hum. Genet. |volume=68 |issue= 1 |pages= 225–31 |year= 2001 |pmid= 11104662 |doi=10.1086/316946  | pmc=1234917  |display-authors=etal}}
*{{cite journal  | author=Phillips HA, Favre I, Kirkpatrick M, ''et al.'' |title=CHRNB2 is the second acetylcholine receptor subunit associated with autosomal dominant nocturnal frontal lobe epilepsy. |journal=Am. J. Hum. Genet. |volume=68 |issue= 1 |pages= 225-31 |year= 2001 |pmid= 11104662 |doi=  }}
*{{cite journal  | vauthors=Samochocki M, Zerlin M, Jostock R |title=Galantamine is an allosterically potentiating ligand of the human alpha4/beta2 nAChR |journal=Acta Neurol. Scand. Suppl. |volume=176 |issue= |pages= 68–73 |year= 2001 |pmid= 11261808 |doi=  |display-authors=etal}}
*{{cite journal  | author=Samochocki M, Zerlin M, Jostock R, ''et al.'' |title=Galantamine is an allosterically potentiating ligand of the human alpha4/beta2 nAChR. |journal=Acta Neurol. Scand., Suppl. |volume=176 |issue= |pages= 68-73 |year= 2001 |pmid= 11261808 |doi=  }}
*{{cite journal  | vauthors=Engidawork E, Gulesserian T, Balic N |title=Changes in nicotinic acetylcholine receptor subunits expression in brain of patients with Down syndrome and Alzheimer's disease |journal=J. Neural Transm. Suppl. |volume= |issue= 61 |pages= 211–22 |year= 2002 |pmid= 11771745 |doi=  10.1007/978-3-7091-6262-0_17|display-authors=etal}}
*{{cite journal  | author=Engidawork E, Gulesserian T, Balic N, ''et al.'' |title=Changes in nicotinic acetylcholine receptor subunits expression in brain of patients with Down syndrome and Alzheimer's disease. |journal=J. Neural Transm. Suppl. |volume= |issue= 61 |pages= 211-22 |year= 2002 |pmid= 11771745 |doi= }}
*{{cite journal  | vauthors=Lueders KK, Hu S, McHugh L |title=Genetic and functional analysis of single nucleotide polymorphisms in the beta2-neuronal nicotinic acetylcholine receptor gene (CHRNB2) |journal=Nicotine Tob. Res. |volume=4 |issue= 1 |pages= 115–25 |year= 2002 |pmid= 11906688 |doi= 10.1080/14622200110098419 |display-authors=etal}}
*{{cite journal  | author=Lueders KK, Hu S, McHugh L, ''et al.'' |title=Genetic and functional analysis of single nucleotide polymorphisms in the beta2-neuronal nicotinic acetylcholine receptor gene (CHRNB2). |journal=Nicotine Tob. Res. |volume=4 |issue= 1 |pages= 115-25 |year= 2002 |pmid= 11906688 |doi= 10.1080/14622200110098419 }}
*{{cite journal  | vauthors=Duga S, Asselta R, Bonati MT |title=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 |journal=Epilepsia |volume=43 |issue= 4 |pages= 362–4 |year= 2002 |pmid= 11952766 |doi=10.1046/j.1528-1157.2002.39001.x  |display-authors=etal}}
*{{cite journal  | author=Duga S, Asselta R, Bonati MT, ''et al.'' |title=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. |journal=Epilepsia |volume=43 |issue= 4 |pages= 362-4 |year= 2002 |pmid= 11952766 |doi=  }}
*{{cite journal  | vauthors=Heeschen C, Weis M, Aicher A |title=A novel angiogenic pathway mediated by non-neuronal nicotinic acetylcholine receptors |journal=J. Clin. Invest. |volume=110 |issue= 4 |pages= 527–36 |year= 2002 |pmid= 12189247 |doi=10.1172/JCI14676  | pmc=150415 |display-authors=etal}}
*{{cite journal  | author=Heeschen C, Weis M, Aicher A, ''et al.'' |title=A novel angiogenic pathway mediated by non-neuronal nicotinic acetylcholine receptors. |journal=J. Clin. Invest. |volume=110 |issue= 4 |pages= 527-36 |year= 2002 |pmid= 12189247 |doi= }}
*{{cite journal  | vauthors=Lin L, Jeanclos EM, Treuil M |title=The calcium sensor protein visinin-like protein-1 modulates the surface expression and agonist sensitivity of the alpha 4beta 2 nicotinic acetylcholine receptor |journal=J. Biol. Chem. |volume=277 |issue= 44 |pages= 41872–8 |year= 2003 |pmid= 12202488 |doi= 10.1074/jbc.M206857200 |display-authors=etal}}
*{{cite journal  | author=Lin L, Jeanclos EM, Treuil M, ''et al.'' |title=The calcium sensor protein visinin-like protein-1 modulates the surface expression and agonist sensitivity of the alpha 4beta 2 nicotinic acetylcholine receptor. |journal=J. Biol. Chem. |volume=277 |issue= 44 |pages= 41872-8 |year= 2003 |pmid= 12202488 |doi= 10.1074/jbc.M206857200 }}
*{{cite journal  | vauthors=Kawamata J, Shimohama S |title=Association of novel and established polymorphisms in neuronal nicotinic acetylcholine receptors with sporadic Alzheimer's disease |journal=J. Alzheimers Dis. |volume=4 |issue= 2 |pages= 71–6 |year= 2002 |pmid= 12214130 |doi= }}
*{{cite journal  | author=Kawamata J, Shimohama S |title=Association of novel and established polymorphisms in neuronal nicotinic acetylcholine receptors with sporadic Alzheimer's disease. |journal=J. Alzheimers Dis. |volume=4 |issue= 2 |pages= 71-6 |year= 2002 |pmid= 12214130 |doi=  }}
*{{cite journal  | vauthors=Strausberg RL, Feingold EA, Grouse LH |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 |display-authors=etal}}
*{{cite journal  | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899-903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 }}
}}
}}
{{refend}}
{{refend}}
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== External links ==
== External links ==
* {{MeshName|CHRNB2+protein,+human}}
* {{MeshName|CHRNB2+protein,+human}}
* {{UCSC gene info|CHRNB2}}


{{membrane-protein-stub}}
{{NLM content}}
{{NLM content}}
{{Ligand-gated ion channels}}
{{Ligand-gated ion channels}}
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[[Category:Ion channels]]
[[Category:Ion channels]]
{{WikiDoc Sources}}
[[Category:Nicotinic acetylcholine receptors]]
 
 
{{membrane-protein-stub}}

Latest revision as of 09:41, 30 August 2017

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Identifiers
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External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
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RefSeq (protein)

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Wikidata
View/Edit Human

Neuronal acetylcholine receptor subunit beta-2 is a protein that in humans is encoded by the CHRNB2 gene.[1][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.[2]

Interactive pathway map

Click on genes, proteins and metabolites below to link to respective articles.[§ 1]

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<imagemap> Image:NicotineDopaminergic_WP1602.png
|{{{bSize}}}px|alt=Nicotine Activity on Dopaminergic Neurons edit]]
Nicotine Activity on Dopaminergic Neurons edit
  1. The interactive pathway map can be edited at WikiPathways: "NicotineDopaminergic_WP1602".

See also

References

  1. Anand R, Lindstrom J (Sep 1992). "Chromosomal localization of seven neuronal nicotinic acetylcholine receptor subunit genes in humans". Genomics. 13 (4): 962–7. doi:10.1016/0888-7543(92)90008-G. PMID 1505988.
  2. 2.0 2.1 "Entrez Gene: CHRNB2 cholinergic receptor, nicotinic, beta 2 (neuronal)".

Further reading

External links

This article incorporates text from the United States National Library of Medicine, which is in the public domain.