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Open Access Articles- Top Results for KvLQT2

KvLQT2

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Identifiers
SymbolsKCNQ2 ; BFNC; BFNS1; EBN; EBN1; EIEE7; ENB1; HNSPC; KCNA11; KV7.2; KVEBN1
External IDsOMIM602235 MGI1309503 HomoloGene26174 IUPHAR: 561 ChEMBL: 2476 GeneCards: KCNQ2 Gene
RNA expression pattern
File:PBB GE KCNQ2 210508 s at tn.png
File:PBB GE KCNQ2 211486 s at tn.png
File:PBB GE KCNQ2 205737 at tn.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez378516536
EnsemblENSG00000075043ENSMUSG00000016346
UniProtO43526Q9Z351
RefSeq (mRNA)NM_004518NM_001003824
RefSeq (protein)NP_004509NP_001003824
Location (UCSC)Chr 20:
62.04 – 62.1 Mb
Chr 2:
181.08 – 181.14 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 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 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]

Ligands

  • ICA-069673: channel opener at KCNQ2/Q3, 20-fold selective over KCNQ3/Q5, no measurable activity against a panel of cardiac ion channels (hERG, Nav1.5, L type channels, and KCNQ1) and no activity on GABAA gated channels at 10 μM. A range of related benzamides exhibited activity, of which compound number 40 is shown here.[2]
  • ML252: channel inhibitor, IC50 = 70nM.[3]

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. PMID 16382104. doi:10.1124/pr.57.4.10. 
  • 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. PMID 9039501. doi:10.1093/dnares/3.5.311. 
  • 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. PMID 9425895. doi:10.1038/ng0198-25. 
  • Biervert C, Schroeder BC, Kubisch C et al. (1998). "A potassium channel mutation in neonatal human epilepsy.". Science 279 (5349): 403–6. PMID 9430594. doi:10.1126/science.279.5349.403. 
  • 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. PMID 9677360. doi:10.1074/jbc.273.31.19419. 
  • 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. PMID 9827540. doi:10.1016/S0014-5793(98)01296-4. 
  • 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. PMID 9836639. doi:10.1126/science.282.5395.1890. 
  • 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. PMID 9872318. doi:10.1038/25367. 
  • 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. PMID 10323247. doi:10.1007/PL00008713. 
  • 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. PMID 10713399. doi:10.1016/S0304-3940(00)00866-1. 
  • 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 (3): 349–55. PMC 2269765. PMID 10713961. doi:10.1111/j.1469-7793.2000.t01-2-00349.x. 
  • 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. PMC 18332. PMID 10781098. doi:10.1073/pnas.090092797. 
  • 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. PMID 10788442. doi:10.1074/jbc.275.18.13343. 
  • 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. PMID 11034315. doi:10.1016/S0014-5793(00)01918-9. 
  • 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. PMID 11175290. doi:10.1038/sj.ejhg.5200570. 
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External links

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


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