Hmdb loader
Identification
HMDB Protein ID HMDBP10839
Secondary Accession Numbers
  • 17129
Name Potassium voltage-gated channel subfamily KQT member 2
Synonyms
  1. KQT-like 2
  2. Neuroblastoma-specific potassium channel subunit alpha KvLQT2
  3. Voltage-gated potassium channel subunit Kv7.2
Gene Name KCNQ2
Protein Type Unknown
Biological Properties
General Function Involved in potassium channel activity
Specific Function Probably important in the regulation of neuronal excitability. Associates with KCNQ3 to form a potassium channel with essentially identical properties to the channel underlying the native M-current, a slowly activating and deactivating potassium conductance which plays a critical role in determining the subthreshold electrical excitability of neurons as well as the responsiveness to synaptic inputs. KCNQ2/KCNQ3 current is blocked by linopirdine and XE991, and activated by the anticonvulsant retigabine. Muscarinic agonist oxotremorine-M strongly suppress KCNQ2/KCNQ3 current in cells in which cloned KCNQ2/KCNQ3 channels were coexpressed with M1 muscarinic receptors
Pathways Not Available
Reactions Not Available
GO Classification
Component
membrane
cell part
ion channel complex
cation channel complex
potassium channel complex
voltage-gated potassium channel complex
macromolecular complex
protein complex
Function
transmembrane transporter activity
substrate-specific transmembrane transporter activity
ion transmembrane transporter activity
transporter activity
ion channel activity
cation channel activity
potassium channel activity
voltage-gated potassium channel activity
Process
establishment of localization
transport
transmembrane transport
monovalent inorganic cation transport
potassium ion transport
ion transport
cation transport
Cellular Location
  1. Membrane
  2. Multi-pass membrane protein
Gene Properties
Chromosome Location Chromosome:2
Locus 20q13.3
SNPs KCNQ2
Gene Sequence
>2619 bp
ATGGTGCAGAAGTCGCGCAACGGCGGCGTATACCCCGGCCCGAGCGGGGAGAAGAAGCTG
AAGGTGGGCTTCGTGGGGCTGGACCCCGGCGCGCCCGACTCCACCCGGGACGGGGCGCTG
CTGATCGCCGGCTCCGAGGCCCCCAAGCGCGGCAGCATCCTCAGCAAACCTCGCGCGGGC
GGCGCGGGCGCCGGGAAGCCCCCCAAGCGCAACGCCTTCTACCGCAAGCTGCAGAATTTC
CTCTACAACGTGCTGGAGCGGCCGCGCGGCTGGGCGTTCATCTACCACGCCTACGTGTTC
CTCCTGGTTTTCTCCTGCCTCGTGCTGTCTGTGTTTTCCACCATCAAGGAGTATGAGAAG
AGCTCGGAGGGGGCCCTCTACATCCTGGAAATCGTGACTATCGTGGTGTTTGGCGTGGAG
TACTTCGTGCGGATCTGGGCCGCAGGCTGCTGCTGCCGGTACCGTGGCTGGAGGGGGCGG
CTCAAGTTTGCCCGGAAACCGTTCTGTGTGATTGACATCATGGTGCTCATCGCCTCCATT
GCGGTGCTGGCCGCCGGCTCCCAGGGCAACGTCTTTGCCACATCTGCGCTCCGGAGCCTG
CGCTTCCTGCAGATTCTGCGGATGATCCGCATGGACCGGCGGGGAGGCACCTGGAAGCTG
CTGGGCTCTGTGGTCTATGCCCACAGCAAGGAGCTGGTCACTGCCTGGTACATCGGCTTC
CTTTGTCTCATCCTGGCCTCGTTCCTGGTGTACTTGGCAGAGAAGGGGGAGAACGACCAC
TTTGACACCTACGCGGATGCACTCTGGTGGGGCCTGATCACGCTGACCACCATTGGCTAC
GGGGACAAGTACCCCCAGACCTGGAACGGCAGGCTCCTTGCGGCAACCTTCACCCTCATC
GGTGTCTCCTTCTTCGCGCTGCCTGCAGGCATCTTGGGGTCTGGGTTTGCCCTGAAGGTT
CAGGAGCAGCACAGGCAGAAGCACTTTGAGAAGAGGCGGAACCCGGCAGCAGGCCTGATC
CAGTCGGCCTGGAGATTCTMCGCCACCAACCTCTCGCGCACAGACCTGCACTCCACGTGG
CAGTACTACGAGCGAACGGTCACCGTGCCCATGTACAGTTCGCAAACTCAAACCTACGGG
GCCTCCAGACTTATCCCCCCGCTGAACCAGCTGGAGCTGCTGAGGAACCTCAAGAGTAAA
TCTGGACTCGCTTTCAGGAAGGACCCCCCGCCGGAGCCGTCTCCAAGTAAAGGCAGCCCG
TGCAGAGGGCCCCTGTGTGGATGCTGCCCCGGACGCTCTAGCCAGAAGGTCAGTTTGAAA
GATCGTGTCTTCTCCAGCCCCCGAGGCGTGGCTGCCAAGGGGAAGGGGTCCCCGCAGGCC
CAGACTGTGAGGCGGTCACCCAGCGCCGACCAGAGCCTCGAGGACAGCCCCAGCAAGGTG
CCCAAGAGCTGGAGCTTCGGGGACCGCAGCCGGGCACGCCAGGCTTTCCGCATCAAGGGT
GCCGCGTCACGGCAGAACTCAGAAGAAGCAAGCCTCCCCGGAGAGGACATTGTGGATGAC
AAGAGCTGCCCCTGCGAGTTTGTGACCGAGGACCTGACCCCGGGCCTCAAAGTCAGCATC
AGAGCCGTGTGTGTCATGCGGTTCCTGGTGTCCAAGCGGAAGTTCAAGGAGAGCCTGCGG
CCCTACGACGTGATGGACGTCATCGAGCAGTACTCAGCCGGCCACCTGGACATGCTGTCC
CGAATTAAGAGCCTGCAGTCCAGAGTGGACCAGATCGTGGGGCGGGGCCCAGCGATCACG
GACAAGGACCGCACCAAGGGCCCGGCCGAGGCGGAGCTGCCCGAGGACCCCAGCATGATG
GGACGGCTCGGGAAGGTGGAGAAGCAGGTCTTGTCCATGGAGAAGAAGCTGGACTTCCTG
GTGAATATCTACATGCAGCGGATGGGCATCCCCCCGACAGAGACCGAGGCCTACTTTGGG
GCCAAAGAGCCGGAGCCGGCGCCGCCGTACCACAGCCCGGAAGACAGCCGGGAGCATGTC
GACAGGCACGGCTGCATTGTCAAGATCGTGCGCTCCAGCAGCTCCACGGGCCAGAAGAAC
TTCTCGGCGCCCCCGGCCGCGCCCCCTGTCCAGTGTCCGCCCTCCACCTCCTGGCAGCCA
CAGAGCCACCCGCGCCAGGGCCACGGCACCTCCCCCGTGGGGGACCACGGCTCCCTGGTG
CGCATCCCGCCGCCGCCTGCCCACGAGCGGTCGCTGTCCGCCTACGGCGGGGGCAACCGC
GCCAGCATGGAGTTCCTGCGGCAGGAGGACACCCCGGGCTGCAGGCCCCCCGAGGGGAAC
CTGCGGGACAGCGACACGTCCATCTCCATCCCGTCCGTGGACCACGAGGAGCTGGAGCGT
TCCTTCAGCGGCTTCAGCATCTCCCAGTCCAAGGAGAACCTGGATGCTCTCAACAGCTGC
TACGCGGCCGTGGCGCCTTGTGCCAAAGTCAGGCCCTACATTGCGGAGGGAGAGTCAGAC
ACCGACTCCGACCTCTGTACCCCGTGCGGGCCCCCGCCACGCTCGGCCACCGGCGAGGGT
CCCTTTGGTGACGTGGGCTGGGCCGGGCCCAGGAAGTGA
Protein Properties
Number of Residues 872
Molecular Weight 95846.6
Theoretical pI 9.59
Pfam Domain Function
Signals
  • None
Transmembrane Regions
  • 92-112
  • 123-143
  • 167-187
  • 196-218
  • 232-252
  • 292-312
Protein Sequence
>Potassium voltage-gated channel subfamily KQT member 2
MVQKSRNGGVYPGPSGEKKLKVGFVGLDPGAPDSTRDGALLIAGSEAPKRGSILSKPRAG
GAGAGKPPKRNAFYRKLQNFLYNVLERPRGWAFIYHAYVFLLVFSCLVLSVFSTIKEYEK
SSEGALYILEIVTIVVFGVEYFVRIWAAGCCCRYRGWRGRLKFARKPFCVIDIMVLIASI
AVLAAGSQGNVFATSALRSLRFLQILRMIRMDRRGGTWKLLGSVVYAHSKELVTAWYIGF
LCLILASFLVYLAEKGENDHFDTYADALWWGLITLTTIGYGDKYPQTWNGRLLAATFTLI
GVSFFALPAGILGSGFALKVQEQHRQKHFEKRRNPAAGLIQSAWRFYATNLSRTDLHSTW
QYYERTVTVPMYSSQTQTYGASRLIPPLNQLELLRNLKSKSGLAFRKDPPPEPSPSKGSP
CRGPLCGCCPGRSSQKVSLKDRVFSSPRGVAAKGKGSPQAQTVRRSPSADQSLEDSPSKV
PKSWSFGDRSRARQAFRIKGAASRQNSEEASLPGEDIVDDKSCPCEFVTEDLTPGLKVSI
RAVCVMRFLVSKRKFKESLRPYDVMDVIEQYSAGHLDMLSRIKSLQSRVDQIVGRGPAIT
DKDRTKGPAEAELPEDPSMMGRLGKVEKQVLSMEKKLDFLVNIYMQRMGIPPTETEAYFG
AKEPEPAPPYHSPEDSREHVDRHGCIVKIVRSSSSTGQKNFSAPPAAPPVQCPPSTSWQP
QSHPRQGHGTSPVGDHGSLVRIPPPPAHERSLSAYGGGNRASMEFLRQEDTPGCRPPEGN
LRDSDTSISIPSVDHEELERSFSGFSISQSKENLDALNSCYAAVAPCAKVRPYIAEGESD
TDSDLCTPCGPPPRSATGEGPFGDVGWAGPRK
GenBank ID Protein 2801452
UniProtKB/Swiss-Prot ID O43526
UniProtKB/Swiss-Prot Entry Name KCNQ2_HUMAN
PDB IDs Not Available
GenBank Gene ID AF033348
GeneCard ID KCNQ2
GenAtlas ID KCNQ2
HGNC ID HGNC:6296
References
General References
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  5. Yokoyama M, Nishi Y, Yoshii J, Okubo K, Matsubara K: Identification and cloning of neuroblastoma-specific and nerve tissue-specific genes through compiled expression profiles. DNA Res. 1996 Oct 31;3(5):311-20. [PubMed:9039501 ]
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  7. Biervert C, Schroeder BC, Kubisch C, Berkovic SF, Propping P, Jentsch TJ, Steinlein OK: A potassium channel mutation in neonatal human epilepsy. Science. 1998 Jan 16;279(5349):403-6. [PubMed:9430594 ]
  8. Wang HS, Pan Z, Shi W, Brown BS, Wymore RS, Cohen IS, Dixon JE, McKinnon D: KCNQ2 and KCNQ3 potassium channel subunits: molecular correlates of the M-channel. Science. 1998 Dec 4;282(5395):1890-3. [PubMed:9836639 ]
  9. Tinel N, Lauritzen I, Chouabe C, Lazdunski M, Borsotto M: The KCNQ2 potassium channel: splice variants, functional and developmental expression. Brain localization and comparison with KCNQ3. FEBS Lett. 1998 Nov 6;438(3):171-6. [PubMed:9827540 ]
  10. Yang WP, Levesque PC, Little WA, Conder ML, Ramakrishnan P, Neubauer MG, Blanar MA: Functional expression of two KvLQT1-related potassium channels responsible for an inherited idiopathic epilepsy. J Biol Chem. 1998 Jul 31;273(31):19419-23. [PubMed:9677360 ]
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  14. Tinel N, Diochot S, Lauritzen I, Barhanin J, Lazdunski M, Borsotto M: M-type KCNQ2-KCNQ3 potassium channels are modulated by the KCNE2 subunit. FEBS Lett. 2000 Sep 1;480(2-3):137-41. [PubMed:11034315 ]
  15. Schwake M, Pusch M, Kharkovets T, Jentsch TJ: Surface expression and single channel properties of KCNQ2/KCNQ3, M-type K+ channels involved in epilepsy. J Biol Chem. 2000 May 5;275(18):13343-8. [PubMed:10788442 ]
  16. Shapiro MS, Roche JP, Kaftan EJ, Cruzblanca H, Mackie K, Hille B: Reconstitution of muscarinic modulation of the KCNQ2/KCNQ3 K(+) channels that underlie the neuronal M current. J Neurosci. 2000 Mar 1;20(5):1710-21. [PubMed:10684873 ]
  17. Main MJ, Cryan JE, Dupere JR, Cox B, Clare JJ, Burbidge SA: Modulation of KCNQ2/3 potassium channels by the novel anticonvulsant retigabine. Mol Pharmacol. 2000 Aug;58(2):253-62. [PubMed:10908292 ]
  18. Wickenden AD, Yu W, Zou A, Jegla T, Wagoner PK: Retigabine, a novel anti-convulsant, enhances activation of KCNQ2/Q3 potassium channels. Mol Pharmacol. 2000 Sep;58(3):591-600. [PubMed:10953053 ]
  19. Rundfeldt C, Netzer R: The novel anticonvulsant retigabine activates M-currents in Chinese hamster ovary-cells tranfected with human KCNQ2/3 subunits. Neurosci Lett. 2000 Mar 17;282(1-2):73-6. [PubMed:10713399 ]
  20. Cooper EC, Aldape KD, Abosch A, Barbaro NM, Berger MS, Peacock WS, Jan YN, Jan LY: Colocalization and coassembly of two human brain M-type potassium channel subunits that are mutated in epilepsy. Proc Natl Acad Sci U S A. 2000 Apr 25;97(9):4914-9. [PubMed:10781098 ]
  21. Biervert C, Steinlein OK: Structural and mutational analysis of KCNQ2, the major gene locus for benign familial neonatal convulsions. Hum Genet. 1999 Mar;104(3):234-40. [PubMed:10323247 ]
  22. Miraglia del Giudice E, Coppola G, Scuccimarra G, Cirillo G, Bellini G, Pascotto A: Benign familial neonatal convulsions (BFNC) resulting from mutation of the KCNQ2 voltage sensor. Eur J Hum Genet. 2000 Dec;8(12):994-7. [PubMed:11175290 ]
  23. Dedek K, Kunath B, Kananura C, Reuner U, Jentsch TJ, Steinlein OK: Myokymia and neonatal epilepsy caused by a mutation in the voltage sensor of the KCNQ2 K+ channel. Proc Natl Acad Sci U S A. 2001 Oct 9;98(21):12272-7. Epub 2001 Sep 25. [PubMed:11572947 ]
  24. Singh NA, Westenskow P, Charlier C, Pappas C, Leslie J, Dillon J, Anderson VE, Sanguinetti MC, Leppert MF: KCNQ2 and KCNQ3 potassium channel genes in benign familial neonatal convulsions: expansion of the functional and mutation spectrum. Brain. 2003 Dec;126(Pt 12):2726-37. Epub 2003 Oct 8. [PubMed:14534157 ]
  25. Dedek K, Fusco L, Teloy N, Steinlein OK: Neonatal convulsions and epileptic encephalopathy in an Italian family with a missense mutation in the fifth transmembrane region of KCNQ2. Epilepsy Res. 2003 Apr;54(1):21-7. [PubMed:12742592 ]
  26. Wuttke TV, Jurkat-Rott K, Paulus W, Garncarek M, Lehmann-Horn F, Lerche H: Peripheral nerve hyperexcitability due to dominant-negative KCNQ2 mutations. Neurology. 2007 Nov 27;69(22):2045-53. Epub 2007 Sep 13. [PubMed:17872363 ]
  27. Borgatti R, Zucca C, Cavallini A, Ferrario M, Panzeri C, Castaldo P, Soldovieri MV, Baschirotto C, Bresolin N, Dalla Bernardina B, Taglialatela M, Bassi MT: A novel mutation in KCNQ2 associated with BFNC, drug resistant epilepsy, and mental retardation. Neurology. 2004 Jul 13;63(1):57-65. [PubMed:15249611 ]