KvLQT2

KCNQ2
Identifiers
Aliases KCNQ2, BFNC, BFNS1, EBN, EBN1, EIEE7, ENB1, HNSPC, KCNA11, KV7.2, KVEBN1, potassium voltage-gated channel subfamily Q member 2
External IDs OMIM: 602235 MGI: 1309503 HomoloGene: 26174 GeneCards: KCNQ2
Targeted by Drug
flupirtine, ezogabine, linopirdine, tetraethylammonium[1]
RNA expression pattern




More reference expression data
Orthologs
Species Human Mouse
Entrez

3785

16536

Ensembl

n/a

ENSMUSG00000016346

UniProt

O43526

Q9Z351

RefSeq (mRNA)

NM_004518
NM_172106
NM_172107
NM_172108
NM_172109

RefSeq (protein)

NP_004509.2
NP_742104.1
NP_742105.1
NP_742106.1
NP_742107.1

NP_001006675.1
NP_001289817.1
NP_034741.2

Location (UCSC) Chr 20: 63.4 – 63.47 Mb Chr 2: 181.08 – 181.14 Mb
PubMed search [2] [3]
Wikidata
View/Edit HumanView/Edit Mouse

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.[4]

Ligands

ICA-069673
Compound #40 (Amato 2011)

References

[1]

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 (3): 349–55. doi:10.1111/j.1469-7793.2000.t01-2-00349.x. PMC 2269765Freely accessible. 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. PMC 18332Freely accessible. 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.


  1. http://www.KCNQ2cure.org
This article is issued from Wikipedia - version of the 6/1/2016. The text is available under the Creative Commons Attribution/Share Alike but additional terms may apply for the media files.