Menu
Home
People
Places
Arts
History
Plants & Animals
Science
Life & Culture
Technology
Reference.org
CHRNA4
open-in-new
<h2 id="interactive-pathway-map">Interactive pathway map</h2> <p><i>Click on genes, proteins and metabolites below to link to respective articles.</i><a class="footnote-ref" id="fnref:5" href="#fn:5"><sup>5</sup></a> </p> <h2 id="see-also">See also</h2> <ul><li><a href="/facts/Nicotinic_acetylcholine_receptor/k2s2pPHr">Nicotinic acetylcholine receptor</a></li></ul> <h2 id="further-reading">Further reading</h2> <ul><li>Skorupska E, Rózycka A, Trzeciak WH (2002). "[Molecular and genetic basis of idiopathic nocturnal frontal lobe epilepsy]". <i>Neurol. Neurochir. Pol</i>. 36 (3): 513–25. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/12185808">12185808</a>.</li> <li>Pilz AJ, Willer E, Povey S, Abbott CM (1993). "The genes coding for phosphoenolpyruvate carboxykinase-1 (PCK1) and neuronal nicotinic acetylcholine receptor alpha 4 subunit (CHRNA4) map to human chromosome 20, extending the known region of homology with mouse chromosome 2". <i>Ann. Hum. Genet</i>. 56 (Pt 4): 289–93. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1111%2Fj.1469-1809.1992.tb01155.x">10.1111/j.1469-1809.1992.tb01155.x</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/1492743">1492743</a>. <a href="/facts/S2CID_(identifier)/ldJsHa2Y">S2CID</a> <a href="https://api.semanticscholar.org/CorpusID:23586336">23586336</a>.</li> <li>McLane KE, Wu XD, Conti-Tronconi BM (1990). <a href="https://doi.org/10.1016%2FS0021-9258%2819%2938744-7">"Identification of a brain acetylcholine receptor alpha subunit able to bind alpha-bungarotoxin"</a>. <i>J. Biol. Chem</i>. 265 (17): 9816–24. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1016%2FS0021-9258%2819%2938744-7">10.1016/S0021-9258(19)38744-7</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/2351675">2351675</a>.</li> <li>Steinlein OK, Mulley JC, <a href="/facts/Peter_Propping/TtXcr86h">Propping P</a>, et al. (1995). "A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy". <i>Nat. Genet</i>. 11 (2): 201–3. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1038%2Fng1095-201">10.1038/ng1095-201</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/7550350">7550350</a>. <a href="/facts/S2CID_(identifier)/ldJsHa2Y">S2CID</a> <a href="https://api.semanticscholar.org/CorpusID:210163">210163</a>.</li> <li>Phillips HA, Scheffer IE, Berkovic SF, et al. (1995). "Localization of a gene for autosomal dominant nocturnal frontal lobe epilepsy to chromosome 20q 13.2". <i>Nat. Genet</i>. 10 (1): 117–8. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1038%2Fng0595-117">10.1038/ng0595-117</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/7647781">7647781</a>. <a href="/facts/S2CID_(identifier)/ldJsHa2Y">S2CID</a> <a href="https://api.semanticscholar.org/CorpusID:12912669">12912669</a>.</li> <li>Monteggia LM, Gopalakrishnan M, Touma E, et al. (1995). "Cloning and transient expression of genes encoding the human alpha 4 and beta 2 neuronal nicotinic acetylcholine receptor (nAChR) subunits". <i>Gene</i>. 155 (2): 189–93. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1016%2F0378-1119%2894%2900914-E">10.1016/0378-1119(94)00914-E</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/7721089">7721089</a>.</li> <li>Steinlein O, Smigrodzki R, Lindstrom J, et al. (1995). <a href="https://doi.org/10.1006%2Fgeno.1994.1420">"Refinement of the localization of the gene for neuronal nicotinic acetylcholine receptor alpha 4 subunit (CHRNA4) to human chromosome 20q13.2-q13.3"</a>. <i>Genomics</i>. 22 (2): 493–5. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1006%2Fgeno.1994.1420">10.1006/geno.1994.1420</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/7806245">7806245</a>.</li> <li>Steinlein O, Weiland S, Stoodt J, Propping P (1997). "Exon-intron structure of the human neuronal nicotinic acetylcholine receptor alpha 4 subunit (CHRNA4)". <i>Genomics</i>. 32 (2): 289–94. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1006%2Fgeno.1996.0119">10.1006/geno.1996.0119</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/8833159">8833159</a>.</li> <li>Bonaldo MF, Lennon G, Soares MB (1997). <a href="https://doi.org/10.1101%2Fgr.6.9.791">"Normalization and subtraction: two approaches to facilitate gene discovery"</a>. <i>Genome Res</i>. 6 (9): 791–806. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1101%2Fgr.6.9.791">10.1101/gr.6.9.791</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/8889548">8889548</a>.</li> <li>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". <i>J. Mol. Neurosci</i>. 7 (3): 217–28. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1007%2FBF02736842">10.1007/BF02736842</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/8906617">8906617</a>. <a href="/facts/S2CID_(identifier)/ldJsHa2Y">S2CID</a> <a href="https://api.semanticscholar.org/CorpusID:45737923">45737923</a>.</li> <li>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". <i>FEBS Lett</i>. 400 (3): 309–14. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1016%2FS0014-5793%2896%2901383-X">10.1016/S0014-5793(96)01383-X</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/9009220">9009220</a>. <a href="/facts/S2CID_(identifier)/ldJsHa2Y">S2CID</a> <a href="https://api.semanticscholar.org/CorpusID:82364119">82364119</a>.</li> <li>Hirose S, Iwata H, Akiyoshi H, et al. (1999). "A novel mutation of CHRNA4 responsible for autosomal dominant nocturnal frontal lobe epilepsy". <i>Neurology</i>. 53 (8): 1749–53. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1212%2Fwnl.53.8.1749">10.1212/wnl.53.8.1749</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/10563623">10563623</a>. <a href="/facts/S2CID_(identifier)/ldJsHa2Y">S2CID</a> <a href="https://api.semanticscholar.org/CorpusID:27745257">27745257</a>.</li> <li>Samochocki M, Zerlin M, Jostock R, et al. (2001). "Galantamine is an allosterically potentiating ligand of the human alpha4/beta2 nAChR". <i>Acta Neurol. Scand. Suppl</i>. 176: 68–73. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1034%2Fj.1600-0404.2000.00310.x">10.1034/j.1600-0404.2000.00310.x</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/11261808">11261808</a>. <a href="/facts/S2CID_(identifier)/ldJsHa2Y">S2CID</a> <a href="https://api.semanticscholar.org/CorpusID:39916984">39916984</a>.</li> <li>Jeanclos EM, Lin L, Treuil MW, et al. (2001). <a href="https://doi.org/10.1074%2Fjbc.M011549200">"The chaperone protein 14-3-3eta interacts with the nicotinic acetylcholine receptor alpha 4 subunit. Evidence for a dynamic role in subunit stabilization"</a>. <i>J. Biol. Chem</i>. 276 (30): 28281–90. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1074%2Fjbc.M011549200">10.1074/jbc.M011549200</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/11352901">11352901</a>.</li> <li>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". In Lubec G (ed.). <i>Protein Expression in Down Syndrome Brain</i>. <i>Journal of Neural Transmission. Supplementum</i>. No. 61. pp. 211–22. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1007%2F978-3-7091-6262-0_17">10.1007/978-3-7091-6262-0_17</a>. <a href="/facts/ISBN_(identifier)/15AdSPa9">ISBN</a> 978-3-211-83704-7. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/11771745">11771745</a>.</li> <li>Deloukas P, Matthews LH, Ashurst J, et al. (2002). <a href="https://doi.org/10.1038%2F414865a">"The DNA sequence and comparative analysis of human chromosome 20"</a>. <i>Nature</i>. 414 (6866): 865–71. <a href="/facts/Bibcode_(identifier)/9HtdQSGB">Bibcode</a>:<a href="https://ui.adsabs.harvard.edu/abs/2001Natur.414..865D">2001Natur.414..865D</a>. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1038%2F414865a">10.1038/414865a</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/11780052">11780052</a>.</li> <li>Bertrand D, Picard F, Le Hellard S, et al. (2002). <a href="https://doi.org/10.1046%2Fj.1528-1157.43.s.5.16.x">"How mutations in the nAChRs can cause ADNFLE epilepsy"</a>. <i>Epilepsia</i>. 43 (Suppl 5): 112–22. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1046%2Fj.1528-1157.43.s.5.16.x">10.1046/j.1528-1157.43.s.5.16.x</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/12121305">12121305</a>. <a href="/facts/S2CID_(identifier)/ldJsHa2Y">S2CID</a> <a href="https://api.semanticscholar.org/CorpusID:32858402">32858402</a>.</li> <li>Heeschen C, Weis M, Aicher A, et al. (2002). <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC150415">"A novel angiogenic pathway mediated by non-neuronal nicotinic acetylcholine receptors"</a>. <i>J. Clin. Invest</i>. 110 (4): 527–36. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1172%2FJCI14676">10.1172/JCI14676</a>. <a href="/facts/PMC_(identifier)/dX1zMt71">PMC</a> <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC150415">150415</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/12189247">12189247</a>.</li></ul> <h2 id="external-links">External links</h2> <ul><li><a href="https://meshb.nlm.nih.gov/record/ui?name=CHRNA4+protein%2C+human">CHRNA4+protein,+human</a> at the U.S. National Library of Medicine <a href="/facts/Medical_Subject_Headings/C57g2JuF">Medical Subject Headings</a> (MeSH)</li> <li>Human <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&singleSearch=knownCanonical&position=CHRNA4"><i>CHRNA4</i></a> genome location and <a href="https://genome.ucsc.edu/cgi-bin/hgGene?db=hg38&hgg_type=knownGene&hgg_gene=CHRNA4"><i>CHRNA4</i></a> gene details page in the <a href="/facts/UCSC_Genome_Browser/kwumPyLb">UCSC Genome Browser</a>.</li></ul> <p><i>This article incorporates text from the <a href="/facts/United_States_National_Library_of_Medicine/Hzty0MCX">United States National Library of Medicine</a>, which is in the <a href="/facts/Public_domain/YWKMDKw4">public domain</a>.</i> </p> <h2 id="references">References</h2> <ol> <li id="fn:1"><p>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. <a href="/wiki/Doi_(identifier)" target="_blank">/wiki/Doi_(identifier)</a> <a href="#fnref:1" class="footnote-back-ref">↩</a></p></li> <li id="fn:2"><p>"Entrez Gene: CHRNA4 cholinergic receptor, nicotinic, alpha 4". <a href="https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1137" target="_blank">https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1137</a> <a href="#fnref:2" class="footnote-back-ref">↩</a></p></li> <li id="fn:3"><p>"Entrez Gene: CHRNA4 cholinergic receptor, nicotinic, alpha 4". <a href="https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1137" target="_blank">https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1137</a> <a href="#fnref:3" class="footnote-back-ref">↩</a></p></li> <li id="fn:4"><p>Papandreou A, Danti FR, Spaull R, Leuzzi V, Mctague A, Kurian MA (February 2020). "The expanding spectrum of movement disorders in genetic epilepsies". Developmental Medicine and Child Neurology. 62 (2): 178–191. doi:10.1111/dmcn.14407. PMID 31784983. S2CID 208498567. <a href="https://discovery.ucl.ac.uk/id/eprint/10088482/" target="_blank">https://discovery.ucl.ac.uk/id/eprint/10088482/</a> <a href="#fnref:4" class="footnote-back-ref">↩</a></p></li> <li id="fn:5"><p>The interactive pathway map can be edited at WikiPathways: "NicotineDopaminergic_WP1602". <a href="http://www.wikipathways.org/index.php/Pathway:WP1602" target="_blank">http://www.wikipathways.org/index.php/Pathway:WP1602</a> <a href="#fnref:5" class="footnote-back-ref">↩</a></p></li> </ol>