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Potassium Voltage Gated Channel KQT Like Subfamily, Member 2 (KCNQ2)

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BFNC; EBN; EBN1; ENB1; HNSPC; KCNA11; KV7.2; KVEBN1; Neuroblastoma-specific potassium channel subunit alpha KvLQT2; Voltage-gated potassium channel subunit Kv7.2

Potassium Voltage Gated Channel KQT Like Subfamily, Member 2 (KCNQ2)
CCC L052
HGNC 6296
MGI 1309503
PubMed 24371303
RGD 621504
UniProt O43526
7.2 (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.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Potassium Voltage Gated Channel KQT Like Subfamily, Member 2 (KCNQ2) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Potassium Voltage Gated Channel KQT Like Subfamily, Member 2 (KCNQ2) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Potassium Voltage Gated Channel KQT Like Subfamily, Member 2 (KCNQ2) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Potassium Voltage Gated Channel KQT Like Subfamily, Member 2 (KCNQ2) CLIA Kit Customized Service Offer
n/a ELISA Kit for Potassium Voltage Gated Channel KQT Like Subfamily, Member 2 (KCNQ2) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Potassium Voltage Gated Channel KQT Like Subfamily, Member 2 (KCNQ2) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Potassium Voltage Gated Channel KQT Like Subfamily, Member 2 (KCNQ2) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Potassium Voltage Gated Channel KQT Like Subfamily, Member 2 (KCNQ2) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Potassium Voltage Gated Channel KQT Like Subfamily, Member 2 (KCNQ2) CLIA Kit Customized Service Offer
n/a ELISA Kit for Potassium Voltage Gated Channel KQT Like Subfamily, Member 2 (KCNQ2) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Potassium Voltage Gated Channel KQT Like Subfamily, Member 2 (KCNQ2) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Potassium Voltage Gated Channel KQT Like Subfamily, Member 2 (KCNQ2) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Potassium Voltage Gated Channel KQT Like Subfamily, Member 2 (KCNQ2) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Potassium Voltage Gated Channel KQT Like Subfamily, Member 2 (KCNQ2) CLIA Kit Customized Service Offer
n/a ELISA Kit for Potassium Voltage Gated Channel KQT Like Subfamily, Member 2 (KCNQ2) ELISA Kit Customized Service Offer
  1. "Identification and cloning of neuroblastoma-specific and nerve tissue-specific genes through compiled expression profiles."DNA Res. 3:311-320(1996) [PubMed] [Europe PMC] [Abstract]
  2. "A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns."Nat. Genet. 18:25-29(1998) [PubMed] [Europe PMC] [Abstract]
  3. "A potassium channel mutation in neonatal human epilepsy."Science 279:403-406(1998) [PubMed] [Europe PMC] [Abstract]
  4. "KCNQ2 and KCNQ3 potassium channel subunits: molecular correlates of the M-channel."Science 282:1890-1893(1998) [PubMed] [Europe PMC] [Abstract]
  5. "The KCNQ2 potassium channel: splice variants, functional and developmental expression. Brain localization and comparison with KCNQ3."FEBS Lett. 438:171-176(1998) [PubMed] [Europe PMC] [Abstract]
  6. "Functional expression of two KvLQT1-related potassium channels responsible for an inherited idiopathic epilepsy."J. Biol. Chem. 273:19419-19423(1998) [PubMed] [Europe PMC] [Abstract]
  7. "Differential expression of KCNQ2 splice variants: implications to M current function during neuronal development."J. Neurosci. 21:1096-1103(2001) [PubMed] [Europe PMC] [Abstract]
  8. "The DNA sequence and comparative analysis of human chromosome 20." Nature 414:865-871(2001) [PubMed] [Europe PMC] [Abstract]
  9. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  10. "Moderate loss of function of cyclic-AMP-modulated KCNQ2/KCNQ3 K+ channels causes epilepsy."Nature 396:687-690(1998) [PubMed] [Europe PMC] [Abstract]
  11. "Two types of K(+) channel subunit, Erg1 and KCNQ2/3, contribute to the M-like current in a mammalian neuronal cell."J. Neurosci. 19:7742-7756(1999) [PubMed] [Europe PMC] [Abstract]
  12. "M-type KCNQ2-KCNQ3 potassium channels are modulated by the KCNE2 subunit."FEBS Lett. 480:137-141(2000) [PubMed] [Europe PMC] [Abstract]
  13. "Surface expression and single channel properties of KCNQ2/KCNQ3, M-type K+ channels involved in epilepsy."J. Biol. Chem. 275:13343-13348(2000) [PubMed] [Europe PMC] [Abstract]
  14. "Reconstitution of muscarinic modulation of the KCNQ2/KCNQ3 K(+) channels that underlie the neuronal M current."J. Neurosci. 20:1710-1721(2000) [PubMed] [Europe PMC] [Abstract]
  15. "Inhibition of KCNQ1-4 potassium channels expressed in mammalian cells via M1 muscarinic acetylcholine receptors."J. Physiol. (Lond.) 522:349-355(2000) [PubMed] [Europe PMC] [Abstract]
  16. "Modulation of KCNQ2/3 potassium channels by the novel anticonvulsant retigabine."Mol. Pharmacol. 58:253-262(2000) [PubMed] [Europe PMC] [Abstract]
  17. "Retigabine, a novel anti-convulsant, enhances activation of KCNQ2/Q3 potassium channels."Mol. Pharmacol. 58:591-600(2000) [PubMed] [Europe PMC] [Abstract]
  18. "The novel anticonvulsant retigabine activates M-currents in Chinese hamster ovary-cells transfected with human KCNQ2/3 subunits."Neurosci. Lett. 282:73-76(2000) [PubMed] [Europe PMC] [Abstract]
  19. "Colocalization and coassembly of two human brain M-type potassium channel subunits that are mutated in epilepsy."Proc. Natl. Acad. Sci. U.S.A. 97:4914-4919(2000) [PubMed] [Europe PMC] [Abstract]
  20. "An unappreciated role for RNA surveillance."Genome Biol. 5:R8.1-R8.16(2004) [PubMed] [Europe PMC] [Abstract]
  21. "Identification by mass spectrometry and functional characterization of two phosphorylation sites of KCNQ2/KCNQ3 channels."Proc. Natl. Acad. Sci. U.S.A. 102:17828-17833(2005) [PubMed] [Europe PMC] [Abstract]
  22. "Structural and mutational analysis of KCNQ2, the major gene locus for benign familial neonatal convulsions."Hum. Genet. 104:234-240(1999) [PubMed] [Europe PMC] [Abstract]
  23. "Benign familial neonatal convulsions (BFNC) resulting from mutation of the KCNQ2 voltage sensor."Eur. J. Hum. Genet. 8:994-997(2000) [PubMed] [Europe PMC] [Abstract]
  24. "Myokymia and neonatal epilepsy caused by a mutation in the voltage sensor of the KCNQ2 K+ channel."Proc. Natl. Acad. Sci. U.S.A. 98:12272-12277(2001) [PubMed] [Europe PMC] [Abstract]
  25. "KCNQ2 and KCNQ3 potassium channel genes in benign familial neonatal convulsions: expansion of the functional and mutation spectrum."Brain 126:2726-2737(2003) [PubMed] [Europe PMC] [Abstract]
  26. "Neonatal convulsions and epileptic encephalopathy in an Italian family with a missense mutation in the fifth transmembrane region of KCNQ2."Epilepsy Res. 54:21-27(2003) [PubMed] [Europe PMC] [Abstract]
  27. "A novel mutation in KCNQ2 associated with BFNC, drug resistant epilepsy, and mental retardation."Neurology 63:57-65(2004) [PubMed] [Europe PMC] [Abstract]
  28. "Peripheral nerve hyperexcitability due to dominant-negative KCNQ2 mutations."Neurology 69:2045-2053(2007) [PubMed] [Europe PMC] [Abstract]