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KvLQT2: Wikis

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Potassium voltage-gated channel, KQT-like subfamily, member 2
Identifiers
Symbols KCNQ2; BFNC; EBN; EBN1; ENB1; HNSPC; KCNA11; KV7.2; KVEBN1
External IDs OMIM602235 MGI1309503 HomoloGene26174 IUPHAR: Kv7.2 GeneCards: KCNQ2 Gene
RNA expression pattern
PBB GE KCNQ2 210508 s at tn.png
PBB GE KCNQ2 211486 s at tn.png
PBB GE KCNQ2 205737 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 3785 16536
Ensembl ENSG00000075043 ENSMUSG00000016346
UniProt O43526 Q9Z351
RefSeq (mRNA) NM_004518 NM_001003824
RefSeq (protein) NP_004509 NP_001003824
Location (UCSC) Chr 20:
61.5 - 61.57 Mb
Chr 2:
181 - 181.06 Mb
PubMed search [1] [2]

Kv7.2 (KvLQT2) is a potassium channel protein coded for by the gene KCNQ2.

It is associated with benign familial neonatal convulsions.

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 a related protein encoded by the KCNQ3 gene, 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 1 (BFNC), also known as epilepsy, benign neonatal type 1 (EBN1). At least five transcript variants encoding five different isoforms have been found for this gene.[1]

References

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.  
  • Yokoyama M, Nishi Y, Yoshii J, et al. (1997). "Identification and cloning of neuroblastoma-specific and nerve tissue-specific genes through compiled expression profiles.". DNA Res. 3 (5): 311–20. doi:10.1093/dnares/3.5.311. PMID 9039501.  
  • Singh NA, Charlier C, Stauffer D, et al. (1998). "A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns.". Nat. Genet. 18 (1): 25–9. doi:10.1038/ng0198-25. PMID 9425895.  
  • Biervert C, Schroeder BC, Kubisch C, et al. (1998). "A potassium channel mutation in neonatal human epilepsy.". Science 279 (5349): 403–6. doi:10.1126/science.279.5349.403. PMID 9430594.  
  • 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.  
  • Tinel N, Lauritzen I, Chouabe C, et al. (1998). "The KCNQ2 potassium channel: splice variants, functional and developmental expression. Brain localization and comparison with KCNQ3.". FEBS Lett. 438 (3): 171–6. doi:10.1016/S0014-5793(98)01296-4. PMID 9827540.  
  • 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.  
  • Biervert C, Steinlein OK (1999). "Structural and mutational analysis of KCNQ2, the major gene locus for benign familial neonatal convulsions.". Hum. Genet. 104 (3): 234–40. doi:10.1007/PL00008713. PMID 10323247.  
  • 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: 349–55. doi:10.1111/j.1469-7793.2000.t01-2-00349.x. PMID 10713961.  
  • 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. PMID 10781098.  
  • 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.  
  • 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.  
  • Smith JS, Iannotti CA, Dargis P, et al. (2001). "Differential expression of kcnq2 splice variants: implications to m current function during neuronal development.". J. Neurosci. 21 (4): 1096–103. PMID 11160379.  
  • Miraglia del Giudice E, Coppola G, Scuccimarra G, et al. (2001). "Benign familial neonatal convulsions (BFNC) resulting from mutation of the KCNQ2 voltage sensor.". Eur. J. Hum. Genet. 8 (12): 994–7. doi:10.1038/sj.ejhg.5200570. PMID 11175290.  

External links

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

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