KvLQT2

KvLQT2 (K_v7.2) is a potassium channel protein coded for by the gene KCNQ2.

It is associated with benign familial neonatal convulsions.

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summary_text = 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.cite web | title = Entrez Gene: KCNQ2 potassium voltage-gated channel, KQT-like subfamily, member 2| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=3785| accessdate = ]

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Gutman GA, Chandy KG, Grissmer S, "et al." |title=International Union of Pharmacology. LIII. Nomenclature and molecular relationships of voltage-gated potassium channels. |journal=Pharmacol. Rev. |volume=57 |issue= 4 |pages= 473–508 |year= 2006 |pmid= 16382104 |doi= 10.1124/pr.57.4.10
*cite journal | author=Yokoyama M, Nishi Y, Yoshii J, "et al." |title=Identification and cloning of neuroblastoma-specific and nerve tissue-specific genes through compiled expression profiles. |journal=DNA Res. |volume=3 |issue= 5 |pages= 311–20 |year= 1997 |pmid= 9039501 |doi=
*cite journal | author=Singh NA, Charlier C, Stauffer D, "et al." |title=A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns. |journal=Nat. Genet. |volume=18 |issue= 1 |pages= 25–9 |year= 1998 |pmid= 9425895 |doi= 10.1038/ng0198-25
*cite journal | author=Biervert C, Schroeder BC, Kubisch C, "et al." |title=A potassium channel mutation in neonatal human epilepsy. |journal=Science |volume=279 |issue= 5349 |pages= 403–6 |year= 1998 |pmid= 9430594 |doi=
*cite journal | author=Yang WP, Levesque PC, Little WA, "et al." |title=Functional expression of two KvLQT1-related potassium channels responsible for an inherited idiopathic epilepsy. |journal=J. Biol. Chem. |volume=273 |issue= 31 |pages= 19419–23 |year= 1998 |pmid= 9677360 |doi=
*cite journal | author=Tinel N, Lauritzen I, Chouabe C, "et al." |title=The KCNQ2 potassium channel: splice variants, functional and developmental expression. Brain localization and comparison with KCNQ3. |journal=FEBS Lett. |volume=438 |issue= 3 |pages= 171–6 |year= 1998 |pmid= 9827540 |doi=
*cite journal | author=Wang HS, Pan Z, Shi W, "et al." |title=KCNQ2 and KCNQ3 potassium channel subunits: molecular correlates of the M-channel. |journal=Science |volume=282 |issue= 5395 |pages= 1890–3 |year= 1998 |pmid= 9836639 |doi=
*cite journal | author=Schroeder BC, Kubisch C, Stein V, Jentsch TJ |title=Moderate loss of function of cyclic-AMP-modulated KCNQ2/KCNQ3 K+ channels causes epilepsy. |journal=Nature |volume=396 |issue= 6712 |pages= 687–90 |year= 1999 |pmid= 9872318 |doi= 10.1038/25367
*cite journal | author=Biervert C, Steinlein OK |title=Structural and mutational analysis of KCNQ2, the major gene locus for benign familial neonatal convulsions. |journal=Hum. Genet. |volume=104 |issue= 3 |pages= 234–40 |year= 1999 |pmid= 10323247 |doi=
*cite journal | author=Selyanko AA, Hadley JK, Wood IC, "et al." |title=Two types of K(+) channel subunit, Erg1 and KCNQ2/3, contribute to the M-like current in a mammalian neuronal cell. |journal=J. Neurosci. |volume=19 |issue= 18 |pages= 7742–56 |year= 1999 |pmid= 10479678 |doi=
*cite journal | author=Shapiro MS, Roche JP, Kaftan EJ, "et al." |title=Reconstitution of muscarinic modulation of the KCNQ2/KCNQ3 K(+) channels that underlie the neuronal M current. |journal=J. Neurosci. |volume=20 |issue= 5 |pages= 1710–21 |year= 2000 |pmid= 10684873 |doi=
*cite journal | author=Rundfeldt C, Netzer R |title=The novel anticonvulsant retigabine activates M-currents in Chinese hamster ovary-cells tranfected with human KCNQ2/3 subunits. |journal=Neurosci. Lett. |volume=282 |issue= 1-2 |pages= 73–6 |year= 2000 |pmid= 10713399 |doi=
*cite journal | author=Selyanko AA, Hadley JK, Wood IC, "et al." |title=Inhibition of KCNQ1-4 potassium channels expressed in mammalian cells via M1 muscarinic acetylcholine receptors. |journal=J. Physiol. (Lond.) |volume=522 Pt 3 |issue= |pages= 349–55 |year= 2000 |pmid= 10713961 |doi=
*cite journal | author=Cooper EC, Aldape KD, Abosch A, "et al." |title=Colocalization and coassembly of two human brain M-type potassium channel subunits that are mutated in epilepsy. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=97 |issue= 9 |pages= 4914–9 |year= 2000 |pmid= 10781098 |doi= 10.1073/pnas.090092797
*cite journal | author=Schwake M, Pusch M, Kharkovets T, Jentsch TJ |title=Surface expression and single channel properties of KCNQ2/KCNQ3, M-type K+ channels involved in epilepsy. |journal=J. Biol. Chem. |volume=275 |issue= 18 |pages= 13343–8 |year= 2000 |pmid= 10788442 |doi=
*cite journal | author=Main MJ, Cryan JE, Dupere JR, "et al." |title=Modulation of KCNQ2/3 potassium channels by the novel anticonvulsant retigabine. |journal=Mol. Pharmacol. |volume=58 |issue= 2 |pages= 253–62 |year= 2000 |pmid= 10908292 |doi=
*cite journal | author=Wickenden AD, Yu W, Zou A, "et al." |title=Retigabine, a novel anti-convulsant, enhances activation of KCNQ2/Q3 potassium channels. |journal=Mol. Pharmacol. |volume=58 |issue= 3 |pages= 591–600 |year= 2000 |pmid= 10953053 |doi=
*cite journal | author=Tinel N, Diochot S, Lauritzen I, "et al." |title=M-type KCNQ2-KCNQ3 potassium channels are modulated by the KCNE2 subunit. |journal=FEBS Lett. |volume=480 |issue= 2-3 |pages= 137–41 |year= 2000 |pmid= 11034315 |doi=
*cite journal | author=Smith JS, Iannotti CA, Dargis P, "et al." |title=Differential expression of kcnq2 splice variants: implications to m current function during neuronal development. |journal=J. Neurosci. |volume=21 |issue= 4 |pages= 1096–103 |year= 2001 |pmid= 11160379 |doi=
*cite journal | author=Miraglia del Giudice E, Coppola G, Scuccimarra G, "et al." |title=Benign familial neonatal convulsions (BFNC) resulting from mutation of the KCNQ2 voltage sensor. |journal=Eur. J. Hum. Genet. |volume=8 |issue= 12 |pages= 994–7 |year= 2001 |pmid= 11175290 |doi= 10.1038/sj.ejhg.5200570

External links

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