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KvLQT3
From Wikipedia, the free encyclopedia
| Potassium voltage-gated channel, KQT-like subfamily, member 3 | |||||||||||||
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| Identifiers | |||||||||||||
| Symbols | KCNQ3; BFNC2; EBN2; KV7.3 | ||||||||||||
| External IDs | OMIM: 602232 MGI: 1336181 HomoloGene: 20949 IUPHAR: Kv7.3 GeneCards: KCNQ3 Gene | ||||||||||||
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| RNA expression pattern | |||||||||||||
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| More reference expression data | |||||||||||||
| Orthologs | |||||||||||||
| Species | Human | Mouse | |||||||||||
| Entrez | 3786 | 110862 | |||||||||||
| Ensembl | ENSG00000184156 | ENSMUSG00000056258 | |||||||||||
| UniProt | O43525 | Q8K3F6 | |||||||||||
| RefSeq (mRNA) | NM_001204824.1 | NM_152923.2 | |||||||||||
| RefSeq (protein) | NP_001191753.1 | NP_690887.2 | |||||||||||
| Location (UCSC) | Chr 8: 133.14 – 133.49 Mb |
Chr 15: 65.83 – 66.12 Mb |
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| PubMed search | [1] | [2] | |||||||||||
Kv7.3 (KvLQT3) is a potassium channel protein coded for by the gene KCNQ3.[1]
It is associated with benign familial neonatal epilepsy.
The M channel is a slowly activating and deactivating potassium channel that plays a critical role in the regulation of neuronal excitability. The M channel is formed by the association of the protein encoded by this gene and one of two related proteins encoded by the KCNQ2 and KCNQ5 genes, both integral membrane proteins. M channel currents are inhibited by M1 muscarinic acetylcholine receptors and activated by retigabine, a novel anti-convulsant drug. Defects in this gene are a cause of benign familial neonatal convulsions type 2 (BFNC2), also known as epilepsy, benign neonatal type 2 (EBN2).[1]
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Interactions
KvLQT3 has been shown to interact with KCNQ5.[2]
References
- ^ a b "Entrez Gene: KCNQ3 potassium voltage-gated channel, KQT-like subfamily, member 3". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=3786.
- ^ Yus-Nájera, E; Muñoz A, Salvador N, Jensen B S, Rasmussen H B, Defelipe J, Villarroel A (2003). "Localization of KCNQ5 in the normal and epileptic human temporal neocortex and hippocampal formation". Neuroscience (United States) 120 (2): 353–64. doi:10.1016/S0306-4522(03)00321-X. ISSN 0306-4522. PMID 12890507.
Further reading
- Gutman GA, Chandy KG, Grissmer S, et al. (2006). "International Union of Pharmacology. LIII. Nomenclature and molecular relationships of voltage-gated potassium channels.". Pharmacol. Rev. 57 (4): 473–508. doi:10.1124/pr.57.4.10. PMID 16382104.
- Ryan SG, Wiznitzer M, Hollman C, et al. (1991). "Benign familial neonatal convulsions: evidence for clinical and genetic heterogeneity.". Ann. Neurol. 29 (5): 469–73. doi:10.1002/ana.410290504. PMID 1859177.
- Lewis TB, Leach RJ, Ward K, et al. (1993). "Genetic heterogeneity in benign familial neonatal convulsions: identification of a new locus on chromosome 8q.". Am. J. Hum. Genet. 53 (3): 670–5. PMC 1682419. PMID 8102508. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1682419.
- Charlier C, Singh NA, Ryan SG, et al. (1998). "A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family.". Nat. Genet. 18 (1): 53–5. doi:10.1038/ng0198-53. PMID 9425900.
- Yang WP, Levesque PC, Little WA, et al. (1998). "Functional expression of two KvLQT1-related potassium channels responsible for an inherited idiopathic epilepsy.". J. Biol. Chem. 273 (31): 19419–23. doi:10.1074/jbc.273.31.19419. PMID 9677360.
- Wang HS, Pan Z, Shi W, et al. (1998). "KCNQ2 and KCNQ3 potassium channel subunits: molecular correlates of the M-channel.". Science 282 (5395): 1890–3. doi:10.1126/science.282.5395.1890. PMID 9836639.
- Schroeder BC, Kubisch C, Stein V, Jentsch TJ (1999). "Moderate loss of function of cyclic-AMP-modulated KCNQ2/KCNQ3 K+ channels causes epilepsy.". Nature 396 (6712): 687–90. doi:10.1038/25367. PMID 9872318.
- Kubisch C, Schroeder BC, Friedrich T, et al. (1999). "KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafness.". Cell 96 (3): 437–46. doi:10.1016/S0092-8674(00)80556-5. PMID 10025409.
- Selyanko AA, Hadley JK, Wood IC, et al. (1999). "Two types of K(+) channel subunit, Erg1 and KCNQ2/3, contribute to the M-like current in a mammalian neuronal cell.". J. Neurosci. 19 (18): 7742–56. PMID 10479678.
- Shapiro MS, Roche JP, Kaftan EJ, et al. (2000). "Reconstitution of muscarinic modulation of the KCNQ2/KCNQ3 K(+) channels that underlie the neuronal M current.". J. Neurosci. 20 (5): 1710–21. PMID 10684873.
- Rundfeldt C, Netzer R (2000). "The novel anticonvulsant retigabine activates M-currents in Chinese hamster ovary-cells tranfected with human KCNQ2/3 subunits.". Neurosci. Lett. 282 (1-2): 73–6. doi:10.1016/S0304-3940(00)00866-1. PMID 10713399.
- Selyanko AA, Hadley JK, Wood IC, et al. (2000). "Inhibition of KCNQ1-4 potassium channels expressed in mammalian cells via M1 muscarinic acetylcholine receptors.". J. Physiol. (Lond.) 522 Pt 3 (3): 349–55. doi:10.1111/j.1469-7793.2000.t01-2-00349.x. PMC 2269765. PMID 10713961. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2269765.
- Cooper EC, Aldape KD, Abosch A, et al. (2000). "Colocalization and coassembly of two human brain M-type potassium channel subunits that are mutated in epilepsy.". Proc. Natl. Acad. Sci. U.S.A. 97 (9): 4914–9. doi:10.1073/pnas.090092797. PMC 18332. PMID 10781098. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=18332.
- Schwake M, Pusch M, Kharkovets T, Jentsch TJ (2000). "Surface expression and single channel properties of KCNQ2/KCNQ3, M-type K+ channels involved in epilepsy.". J. Biol. Chem. 275 (18): 13343–8. doi:10.1074/jbc.275.18.13343. PMID 10788442.
- Hirose S, Zenri F, Akiyoshi H, et al. (2000). "A novel mutation of KCNQ3 (c.925T-->C) in a Japanese family with benign familial neonatal convulsions.". Ann. Neurol. 47 (6): 822–6. doi:10.1002/1531-8249(200006)47:6<822::AID-ANA19>3.0.CO;2-X. PMID 10852552.
- Main MJ, Cryan JE, Dupere JR, et al. (2000). "Modulation of KCNQ2/3 potassium channels by the novel anticonvulsant retigabine.". Mol. Pharmacol. 58 (2): 253–62. PMID 10908292.
- Wickenden AD, Yu W, Zou A, et al. (2000). "Retigabine, a novel anti-convulsant, enhances activation of KCNQ2/Q3 potassium channels.". Mol. Pharmacol. 58 (3): 591–600. PMID 10953053.
- Tinel N, Diochot S, Lauritzen I, et al. (2000). "M-type KCNQ2-KCNQ3 potassium channels are modulated by the KCNE2 subunit.". FEBS Lett. 480 (2-3): 137–41. doi:10.1016/S0014-5793(00)01918-9. PMID 11034315.
- Wickenden AD, Zou A, Wagoner PK, Jegla T (2001). "Characterization of KCNQ5/Q3 potassium channels expressed in mammalian cells.". Br. J. Pharmacol. 132 (2): 381–4. doi:10.1038/sj.bjp.0703861. PMC 1572592. PMID 11159685. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1572592.
- Yus-Najera E, Santana-Castro I, Villarroel A (2002). "The identification and characterization of a noncontinuous calmodulin-binding site in noninactivating voltage-dependent KCNQ potassium channels.". J. Biol. Chem. 277 (32): 28545–53. doi:10.1074/jbc.M204130200. PMID 12032157.
External links
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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