Protein-coding gene in the species Homo sapiens
CHRNB2 |
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Available structures |
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PDB | Ortholog search: PDBe RCSB |
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List of PDB id codes |
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2K58, 2K59, 2KSR, 2LM2 |
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Identifiers |
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Aliases | CHRNB2, EFNL3, nAChRB2, cholinergic receptor nicotinic beta 2 subunit |
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External IDs | OMIM: 118507; MGI: 87891; HomoloGene: 595; GeneCards: CHRNB2; OMA:CHRNB2 - orthologs |
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Gene location (Human) |
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| Chr. | Chromosome 1 (human)[1] |
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| Band | 1q21.3 | Start | 154,567,778 bp[1] |
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End | 154,580,013 bp[1] |
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Gene location (Mouse) |
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| Chr. | Chromosome 3 (mouse)[2] |
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| Band | 3 F1|3 39.19 cM | Start | 89,653,502 bp[2] |
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End | 89,671,939 bp[2] |
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RNA expression pattern |
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Bgee | Human | Mouse (ortholog) |
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Top expressed in | - beta cell
- vena cava
- lateral nuclear group of thalamus
- pars reticulata
- external globus pallidus
- subthalamic nucleus
- mucosa of pharynx
- ventral tegmental area
- body of tongue
- Pars compacta
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| Top expressed in | - medial dorsal nucleus
- medial geniculate nucleus
- lateral geniculate nucleus
- habenula
- cerebellar cortex
- glomerulus
- dentate gyrus of hippocampal formation granule cell
- dorsal tegmental nucleus
- superior colliculus
- ventral tegmental area
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| More reference expression data |
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BioGPS | | More reference expression data |
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Gene ontology |
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Molecular function | - acetylcholine binding
- acetylcholine receptor activity
- ion channel activity
- protein binding
- ligand-gated ion channel activity
- protein heterodimerization activity
- extracellular ligand-gated ion channel activity
- acetylcholine-gated cation-selective channel activity
- transmembrane signaling receptor activity
- transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential
| Cellular component | - acetylcholine-gated channel complex
- integral component of membrane
- postsynaptic membrane
- membrane
- plasma membrane
- synapse
- cell junction
- external side of plasma membrane
- integral component of plasma membrane
- neuron projection
- plasma membrane raft
- dopaminergic synapse
- cholinergic synapse
- integral component of presynaptic membrane
- integral component of postsynaptic specialization membrane
| Biological process | - visual learning
- regulation of synaptic transmission, dopaminergic
- response to cocaine
- smooth muscle contraction
- regulation of circadian sleep/wake cycle, REM sleep
- regulation of dopamine secretion
- response to hypoxia
- associative learning
- cognition
- locomotory behavior
- protein heterooligomerization
- central nervous system neuron axonogenesis
- optic nerve morphogenesis
- regulation of synapse assembly
- regulation of membrane potential
- response to nicotine
- membrane depolarization
- nervous system process
- synaptic transmission, cholinergic
- ion transport
- hearing
- learning
- memory
- negative regulation of action potential
- regulation of dopamine metabolic process
- behavioral response to nicotine
- regulation of dendrite morphogenesis
- B cell activation
- neuromuscular synaptic transmission
- synaptic transmission involved in micturition
- positive regulation of dopamine secretion
- positive regulation of B cell proliferation
- regulation of circadian sleep/wake cycle, non-REM sleep
- vestibulocochlear nerve development
- conditioned taste aversion
- transport
- social behavior
- action potential
- sensory perception of pain
- lateral geniculate nucleus development
- positive regulation of synaptic transmission, dopaminergic
- response to ethanol
- central nervous system projection neuron axonogenesis
- calcium ion transport
- signal transduction
- visual perception
- ion transmembrane transport
- regulation of postsynaptic membrane potential
- excitatory postsynaptic potential
- acetylcholine receptor signaling pathway
- chemical synaptic transmission
- response to acetylcholine
- regulation of synaptic vesicle exocytosis
| Sources:Amigo / QuickGO |
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Orthologs |
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Species | Human | Mouse |
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Entrez | | |
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Ensembl | | |
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UniProt | | |
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RefSeq (mRNA) | | |
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RefSeq (protein) | | |
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Location (UCSC) | Chr 1: 154.57 – 154.58 Mb | Chr 3: 89.65 – 89.67 Mb |
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PubMed search | [3] | [4] |
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Wikidata |
View/Edit Human | View/Edit Mouse |
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Neuronal acetylcholine receptor subunit beta-2 is a protein that in humans is encoded by the CHRNB2 gene.[5][6]
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.[6]
It has been discovered that suppression, rather than stimulation, of B2-containing nAChR currents yields an antidepressant effect. This is believed to explain the significantly increased prevalence of cigarette smoking in depressed individuals and the profound rise in depressive symptoms during abstinence.
Interactive pathway map
Click on genes, proteins and metabolites below to link to respective articles.[§ 1]
[[File:
|alt=Nicotine Activity on Dopaminergic Neurons edit]]
Nicotine Activity on Dopaminergic Neurons edit
- ^ The interactive pathway map can be edited at WikiPathways: "NicotineDopaminergic_WP1602".
See also
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000160716 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000027950 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ 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 b "Entrez Gene: CHRNB2 cholinergic receptor, nicotinic, beta 2 (neuronal)".
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. Bibcode:1992FEBSL.311..115B. doi:10.1016/0014-5793(92)81380-5. PMID 1397297.
- Anand R, Lindstrom J (1990). "Nucleotide sequence of the human nicotinic acetylcholine receptor beta 2 subunit gene". Nucleic Acids Res. 18 (14): 4272. doi:10.1093/nar/18.14.4272. PMC 331211. 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. doi:10.1007/BF02736842. PMID 8906617. S2CID 45737923.
- 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. doi:10.1016/S0014-5793(96)01383-X. PMID 9009220. S2CID 82364119.
- 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. doi:10.1007/s004390050885. PMID 9921897. S2CID 23791981.
- 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. doi:10.1007/s003359901111. PMID 10441742. S2CID 13160005.
- Steinlein OK (2000). "Neuronal nicotinic receptors in human epilepsy". Eur. J. Pharmacol. 393 (1–3): 243–7. doi:10.1016/S0014-2999(00)00065-0. 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. S2CID 21818633.
- 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. doi:10.1086/316946. PMC 1234917. 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. doi:10.1034/j.1600-0404.2000.00310.x. PMID 11261808. S2CID 39916984.
- Engidawork E, Gulesserian T, Balic N, Cairns N, Lubec G (2002). "Changes in nicotinic acetylcholine receptor subunits expression in brain of patients with Down syndrome and Alzheimer's disease". In Lubec G (ed.). Protein Expression in Down Syndrome Brain. Journal of Neural Transmission. Supplementum. No. 61. Springer. pp. 211–22. doi:10.1007/978-3-7091-6262-0_17. ISBN 978-3-211-83704-7. 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. doi:10.1046/j.1528-1157.2002.39001.x. PMID 11952766. S2CID 34970690.
- 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. doi:10.1172/JCI14676. PMC 150415. 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. doi:10.3233/JAD-2002-4201. hdl:2433/149693. 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. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
External links
- CHRNB2+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
- Human CHRNB2 genome location and CHRNB2 gene details page in the UCSC Genome Browser.
- Overview of all the structural information available in the PDB for UniProt: P17787 (Neuronal acetylcholine receptor subunit beta-2) at the PDBe-KB.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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