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Potassium voltage-gated channel subfamily KQT member 2 (KQT-like 2) (Neuroblastoma-specific potassium channel subunit alpha KvLQT2) (Voltage-gated potassium channel subunit Kv7.2)

 KCNQ2_HUMAN             Reviewed;         872 AA.
O43526; O43796; O75580; O95845; Q4VXP4; Q4VXR6; Q5VYT8; Q96J59;
Q99454;
01-JUN-2001, integrated into UniProtKB/Swiss-Prot.
01-JUN-2001, sequence version 2.
12-SEP-2018, entry version 197.
RecName: Full=Potassium voltage-gated channel subfamily KQT member 2 {ECO:0000305};
AltName: Full=KQT-like 2;
AltName: Full=Neuroblastoma-specific potassium channel subunit alpha KvLQT2;
AltName: Full=Voltage-gated potassium channel subunit Kv7.2;
Name=KCNQ2 {ECO:0000312|HGNC:HGNC:6296};
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 6).
TISSUE=Neuroblastoma;
PubMed=9039501; DOI=10.1093/dnares/3.5.311;
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. 3:311-320(1996).
[2]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), AND VARIANTS BFNS1 CYS-284 AND
THR-306.
TISSUE=Brain, Fetal brain, and Temporal cortex;
PubMed=9425895; DOI=10.1038/ng0198-25;
Singh N.A., Charlier C., Stauffer D., DuPont B.R., Leach R.J.,
Melis R., Ronen G.M., Bjerre I., Quattlebaum T., Murphy J.V.,
McHarg M.L., Gagnon D., Rosales T.O., Peiffer A., Anderson V.E.,
Leppert M.;
"A novel potassium channel gene, KCNQ2, is mutated in an inherited
epilepsy of newborns.";
Nat. Genet. 18:25-29(1998).
[3]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 2 AND 3).
TISSUE=Fetal brain;
PubMed=9430594; DOI=10.1126/science.279.5349.403;
Biervert C., Schroeder B.C., Kubisch C., Berkovic S.F., Propping P.,
Jentsch T.J., Steinlein O.K.;
"A potassium channel mutation in neonatal human epilepsy.";
Science 279:403-406(1998).
[4]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 4), FUNCTION, SUBUNIT, AND
SUBCELLULAR LOCATION.
PubMed=9836639; DOI=10.1126/science.282.5395.1890;
Wang H.-S., Pan Z., Shi W., Brown B.S., Wymore R.S., Cohen I.S.,
Dixon J.E., McKinnon D.;
"KCNQ2 and KCNQ3 potassium channel subunits: molecular correlates of
the M-channel.";
Science 282:1890-1893(1998).
[5]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2 AND 5).
PubMed=9827540; DOI=10.1016/S0014-5793(98)01296-4;
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. 438:171-176(1998).
[6]
NUCLEOTIDE SEQUENCE [MRNA], AND CHARACTERIZATION.
TISSUE=Brain, and Fetal brain;
PubMed=9677360; DOI=10.1074/jbc.273.31.19419;
Yang W.-P., Levesque P.C., Little W.A., Conder M.L., Ramakrishnan P.,
Neubauer M.G., Blanar M.A.;
"Functional expression of two KvLQT1-related potassium channels
responsible for an inherited idiopathic epilepsy.";
J. Biol. Chem. 273:19419-19423(1998).
[7]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
TISSUE=Brain;
PubMed=11160379;
Smith J.S., Iannotti C.A., Dargis P.G., Christian E.P., Aiyar J.;
"Differential expression of KCNQ2 splice variants: implications to M
current function during neuronal development.";
J. Neurosci. 21:1096-1103(2001).
[8]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
PubMed=11780052; DOI=10.1038/414865a;
Deloukas P., Matthews L.H., Ashurst J.L., Burton J., Gilbert J.G.R.,
Jones M., Stavrides G., Almeida J.P., Babbage A.K., Bagguley C.L.,
Bailey J., Barlow K.F., Bates K.N., Beard L.M., Beare D.M.,
Beasley O.P., Bird C.P., Blakey S.E., Bridgeman A.M., Brown A.J.,
Buck D., Burrill W.D., Butler A.P., Carder C., Carter N.P.,
Chapman J.C., Clamp M., Clark G., Clark L.N., Clark S.Y., Clee C.M.,
Clegg S., Cobley V.E., Collier R.E., Connor R.E., Corby N.R.,
Coulson A., Coville G.J., Deadman R., Dhami P.D., Dunn M.,
Ellington A.G., Frankland J.A., Fraser A., French L., Garner P.,
Grafham D.V., Griffiths C., Griffiths M.N.D., Gwilliam R., Hall R.E.,
Hammond S., Harley J.L., Heath P.D., Ho S., Holden J.L., Howden P.J.,
Huckle E., Hunt A.R., Hunt S.E., Jekosch K., Johnson C.M., Johnson D.,
Kay M.P., Kimberley A.M., King A., Knights A., Laird G.K., Lawlor S.,
Lehvaeslaiho M.H., Leversha M.A., Lloyd C., Lloyd D.M., Lovell J.D.,
Marsh V.L., Martin S.L., McConnachie L.J., McLay K., McMurray A.A.,
Milne S.A., Mistry D., Moore M.J.F., Mullikin J.C., Nickerson T.,
Oliver K., Parker A., Patel R., Pearce T.A.V., Peck A.I.,
Phillimore B.J.C.T., Prathalingam S.R., Plumb R.W., Ramsay H.,
Rice C.M., Ross M.T., Scott C.E., Sehra H.K., Shownkeen R., Sims S.,
Skuce C.D., Smith M.L., Soderlund C., Steward C.A., Sulston J.E.,
Swann R.M., Sycamore N., Taylor R., Tee L., Thomas D.W., Thorpe A.,
Tracey A., Tromans A.C., Vaudin M., Wall M., Wallis J.M.,
Whitehead S.L., Whittaker P., Willey D.L., Williams L., Williams S.A.,
Wilming L., Wray P.W., Hubbard T., Durbin R.M., Bentley D.R., Beck S.,
Rogers J.;
"The DNA sequence and comparative analysis of human chromosome 20.";
Nature 414:865-871(2001).
[9]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 6).
TISSUE=Eye;
PubMed=15489334; DOI=10.1101/gr.2596504;
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA
project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[10]
MUTAGENESIS OF SER-52 AND GLY-279, PHOSPHORYLATION AT SER-52, AND
CHARACTERIZATION OF VARIANTS CYS-284 AND THR-306.
PubMed=9872318; DOI=10.1038/25367;
Schroeder B.C., Kubisch C., Stein V., Jentsch T.J.;
"Moderate loss of function of cyclic-AMP-modulated KCNQ2/KCNQ3 K+
channels causes epilepsy.";
Nature 396:687-690(1998).
[11]
INVOLVEMENT IN M-LIKE CURRENT.
PubMed=10479678;
Selyanko A.A., Hadley J.K., Wood I.C., Abogadie F.C., Delmas P.,
Buckley N.J., London B., Brown D.A.;
"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).
[12]
ASSOCIATION WITH KCNE2.
PubMed=11034315; DOI=10.1016/S0014-5793(00)01918-9;
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. 480:137-141(2000).
[13]
SUBCELLULAR LOCATION.
PubMed=10788442; DOI=10.1074/jbc.275.18.13343;
Schwake M., Pusch M., Kharkovets T., Jentsch T.J.;
"Surface expression and single channel properties of KCNQ2/KCNQ3, M-
type K+ channels involved in epilepsy.";
J. Biol. Chem. 275:13343-13348(2000).
[14]
FUNCTION, AND INHIBITION BY M1 MUSCARINIC RECEPTORS.
PubMed=10684873;
Shapiro M.S., Roche J.P., Kaftan E.J., Cruzblanca H., Mackie K.,
Hille B.;
"Reconstitution of muscarinic modulation of the KCNQ2/KCNQ3 K(+)
channels that underlie the neuronal M current.";
J. Neurosci. 20:1710-1721(2000).
[15]
INHIBITION BY M1 MUSCARINIC RECEPTORS.
PubMed=10713961; DOI=10.1111/j.1469-7793.2000.t01-2-00349.x;
Selyanko A.A., Hadley J.K., Wood I.C., Abogadie F.C., Jentsch T.J.,
Brown D.A.;
"Inhibition of KCNQ1-4 potassium channels expressed in mammalian cells
via M1 muscarinic acetylcholine receptors.";
J. Physiol. (Lond.) 522:349-355(2000).
[16]
ACTIVATION BY RETICABINE.
PubMed=10908292;
Main M.J., Cryan J.E., Dupere J.R., Cox B., Clare J.J., Burbidge S.A.;
"Modulation of KCNQ2/3 potassium channels by the novel anticonvulsant
retigabine.";
Mol. Pharmacol. 58:253-262(2000).
[17]
ACTIVATION BY RETICABINE.
PubMed=10953053;
Wickenden A.D., Yu W., Zou A., Jegla T., Wagoner P.K.;
"Retigabine, a novel anti-convulsant, enhances activation of KCNQ2/Q3
potassium channels.";
Mol. Pharmacol. 58:591-600(2000).
[18]
ACTIVATION BY RETICABINE.
PubMed=10713399; DOI=10.1016/S0304-3940(00)00866-1;
Rundfeldt C., Netzer R.;
"The novel anticonvulsant retigabine activates M-currents in Chinese
hamster ovary-cells transfected with human KCNQ2/3 subunits.";
Neurosci. Lett. 282:73-76(2000).
[19]
TISSUE SPECIFICITY, AND BIOCHEMICAL CHARACTERIZATION.
PubMed=10781098; DOI=10.1073/pnas.090092797;
Cooper E.C., Aldape K.D., Abosch A., Barbaro N.M., Berger M.S.,
Peacock W.S., Jan Y.N., Jan L.Y.;
"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).
[20]
SPLICE ISOFORM(S) THAT ARE POTENTIAL NMD TARGET(S).
PubMed=14759258; DOI=10.1186/gb-2004-5-2-r8;
Hillman R.T., Green R.E., Brenner S.E.;
"An unappreciated role for RNA surveillance.";
Genome Biol. 5:R8.1-R8.16(2004).
[21]
PHOSPHORYLATION AT THR-217, AND MUTAGENESIS OF THR-217.
PubMed=16319223; DOI=10.1073/pnas.0509122102;
Surti T.S., Huang L., Jan Y.N., Jan L.Y., Cooper E.C.;
"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).
[22]
UBIQUITINATION BY NEDD4L.
PubMed=27445338; DOI=10.1074/jbc.M116.722637;
Anta B., Martin-Rodriguez C., Gomis-Perez C., Calvo L.,
Lopez-Benito S., Calderon-Garcia A.A., Vicente-Garcia C.,
Villarroel A., Arevalo J.C.;
"Ubiquitin-specific Protease 36 (USP36) Controls Neuronal Precursor
Cell-expressed Developmentally Down-regulated 4-2 (Nedd4-2) Actions
over the Neurotrophin Receptor TrkA and Potassium Voltage-gated
Channels 7.2/3 (Kv7.2/3).";
J. Biol. Chem. 291:19132-19145(2016).
[23] {ECO:0000244|PDB:5J03}
X-RAY CRYSTALLOGRAPHY (2.00 ANGSTROMS) OF 530-557 IN COMPLEX WITH
CALMODULIN, SUBUNIT, INTERACTION WITH CALMODULIN, AND REGION.
PubMed=27564677; DOI=10.1021/acs.biochem.6b00477;
Strulovich R., Tobelaim W.S., Attali B., Hirsch J.A.;
"Structural insights into the M-channel proximal C-terminus/calmodulin
complex.";
Biochemistry 55:5353-5365(2016).
[24]
VARIANT THR-780.
PubMed=10323247; DOI=10.1007/s004390050941;
Biervert C., Steinlein O.K.;
"Structural and mutational analysis of KCNQ2, the major gene locus for
benign familial neonatal convulsions.";
Hum. Genet. 104:234-240(1999).
[25]
VARIANT BFNS1 TRP-214.
PubMed=11175290; DOI=10.1038/sj.ejhg.5200570;
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. 8:994-997(2000).
[26]
VARIANT BFNS1 TRP-207, CHARACTERIZATION OF VARIANT BFNS1 TRP-207, AND
FUNCTION.
PubMed=11572947; DOI=10.1073/pnas.211431298;
Dedek K., Kunath B., Kananura C., Reuner U., Jentsch T.J.,
Steinlein O.K.;
"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).
[27]
VARIANTS BFNS1 VAL-208; GLN-228; PHE-243; CYS-284; THR-306 AND
GLN-333, CHARACTERIZATION OF VARIANTS BFNS1 VAL-208 AND GLN-333, AND
FUNCTION.
PubMed=14534157; DOI=10.1093/brain/awg286;
The BFNC physician consortium;
Singh N.A., Westenskow P., Charlier C., Pappas C., Leslie J.,
Dillon J., Anderson V.E., Sanguinetti M.C., Leppert M.F.;
"KCNQ2 and KCNQ3 potassium channel genes in benign familial neonatal
convulsions: expansion of the functional and mutation spectrum.";
Brain 126:2726-2737(2003).
[28]
VARIANT EIEE7 TRP-247, CHARACTERIZATION OF VARIANT EIEE7 TRP-247, AND
FUNCTION.
PubMed=12742592; DOI=10.1016/S0920-1211(03)00037-8;
Dedek K., Fusco L., Teloy N., Steinlein O.K.;
"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).
[29]
VARIANT BFNS1 ASN-554, VARIANT EIEE7 ASN-554, AND CHARACTERIZATION OF
VARIANT BFNS1 ASN-554.
PubMed=15249611; DOI=10.1212/01.WNL.0000132979.08394.6D;
Borgatti R., Zucca C., Cavallini A., Ferrario M., Panzeri C.,
Castaldo P., Soldovieri M.V., Baschirotto C., Bresolin N.,
Dalla Bernardina B., Taglialatela M., Bassi M.T.;
"A novel mutation in KCNQ2 associated with BFNC, drug resistant
epilepsy, and mental retardation.";
Neurology 63:57-65(2004).
[30]
VARIANT GLN-207, CHARACTERIZATION OF VARIANT GLN-207, AND FUNCTION.
PubMed=17872363; DOI=10.1212/01.wnl.0000275523.95103.36;
Wuttke T.V., Jurkat-Rott K., Paulus W., Garncarek M., Lehmann-Horn F.,
Lerche H.;
"Peripheral nerve hyperexcitability due to dominant-negative KCNQ2
mutations.";
Neurology 69:2045-2053(2007).
[31]
VARIANTS BFNS1 ASP-154; GLU-159; VAL-196; 448-ARG--LYS-872 DEL AND
TRP-547, AND VARIANT ALA-217.
PubMed=23360469; DOI=10.1111/epi.12089;
Zara F., Specchio N., Striano P., Robbiano A., Gennaro E.,
Paravidino R., Vanni N., Beccaria F., Capovilla G., Bianchi A.,
Caffi L., Cardilli V., Darra F., Bernardina B.D., Fusco L.,
Gaggero R., Giordano L., Guerrini R., Incorpora G., Mastrangelo M.,
Spaccini L., Laverda A.M., Vecchi M., Vanadia F., Veggiotti P.,
Viri M., Occhi G., Budetta M., Taglialatela M., Coviello D.A.,
Vigevano F., Minetti C.;
"Genetic testing in benign familial epilepsies of the first year of
life: clinical and diagnostic significance.";
Epilepsia 54:425-436(2013).
[32]
VARIANT EIEE7 ILE-276.
PubMed=24463883; DOI=10.1093/hmg/ddu030;
WGS500 Consortium;
Martin H.C., Kim G.E., Pagnamenta A.T., Murakami Y., Carvill G.L.,
Meyer E., Copley R.R., Rimmer A., Barcia G., Fleming M.R.,
Kronengold J., Brown M.R., Hudspith K.A., Broxholme J., Kanapin A.,
Cazier J.B., Kinoshita T., Nabbout R., Bentley D., McVean G.,
Heavin S., Zaiwalla Z., McShane T., Mefford H.C., Shears D.,
Stewart H., Kurian M.A., Scheffer I.E., Blair E., Donnelly P.,
Kaczmarek L.K., Taylor J.C.;
"Clinical whole-genome sequencing in severe early-onset epilepsy
reveals new genes and improves molecular diagnosis.";
Hum. Mol. Genet. 23:3200-3211(2014).
[33]
VARIANTS EIEE7 CYS-210; PRO-234 AND 578-MET-LEU-579 DELINS ILE-MET.
PubMed=25818041; DOI=10.1111/epi.12954;
Mercimek-Mahmutoglu S., Patel J., Cordeiro D., Hewson S., Callen D.,
Donner E.J., Hahn C.D., Kannu P., Kobayashi J., Minassian B.A.,
Moharir M., Siriwardena K., Weiss S.K., Weksberg R., Snead O.C. III;
"Diagnostic yield of genetic testing in epileptic encephalopathy in
childhood.";
Epilepsia 56:707-716(2015).
[34]
VARIANTS BFNS1 ALA-114; ARG-159; 204-GLN--LYS-872 DEL; GLN-213;
GLY-353; PHE-358; 448-ARG--LYS-872 DEL; VAL-578; 581-ARG--LYS-872 DEL;
SER-588 AND ARG-637.
PubMed=25982755; DOI=10.1111/epi.13020;
Grinton B.E., Heron S.E., Pelekanos J.T., Zuberi S.M., Kivity S.,
Afawi Z., Williams T.C., Casalaz D.M., Yendle S., Linder I., Lev D.,
Lerman-Sagie T., Malone S., Bassan H., Goldberg-Stern H., Stanley T.,
Hayman M., Calvert S., Korczyn A.D., Shevell M., Scheffer I.E.,
Mulley J.C., Berkovic S.F.;
"Familial neonatal seizures in 36 families: Clinical and genetic
features correlate with outcome.";
Epilepsia 56:1071-1080(2015).
[35]
CHARACTERIZATION OF VARIANT EIEE7 CYS-201, AND FUNCTION.
PubMed=25740509; DOI=10.1523/JNEUROSCI.4423-14.2015;
Miceli F., Soldovieri M.V., Ambrosino P., De Maria M., Migliore M.,
Migliore R., Taglialatela M.;
"Early-onset epileptic encephalopathy caused by gain-of-function
mutations in the voltage sensor of Kv7.2 and Kv7.3 potassium channel
subunits.";
J. Neurosci. 35:3782-3793(2015).
[36]
VARIANT EIEE7 THR-306.
PubMed=26138355; DOI=10.1111/cge.12636;
Dimassi S., Labalme A., Ville D., Calender A., Mignot C.,
Boutry-Kryza N., de Bellescize J., Rivier-Ringenbach C.,
Bourel-Ponchel E., Cheillan D., Simonet T., Maincent K., Rossi M.,
Till M., Mougou-Zerelli S., Edery P., Saad A., Heron D.,
des Portes V., Sanlaville D., Lesca G.;
"Whole-exome sequencing improves the diagnosis yield in sporadic
infantile spasm syndrome.";
Clin. Genet. 89:198-204(2016).
[37]
VARIANTS EIEE7 CYS-201; GLN-213 AND SER-561, AND VARIANTS BFNS1
TRP-213 AND 581-ARG--LYS-872 DEL.
PubMed=26993267; DOI=10.1136/jmedgenet-2015-103263;
Trump N., McTague A., Brittain H., Papandreou A., Meyer E., Ngoh A.,
Palmer R., Morrogh D., Boustred C., Hurst J.A., Jenkins L.,
Kurian M.A., Scott R.H.;
"Improving diagnosis and broadening the phenotypes in early-onset
seizure and severe developmental delay disorders through gene panel
analysis.";
J. Med. Genet. 53:310-317(2016).
[38]
VARIANTS EIEE7 GLU-266; PHE-268; SER-291; VAL-294; SER-301 AND
GLN-581, AND VARIANT SER-777.
PubMed=27864847; DOI=10.1002/humu.23149;
Clinical Study Group;
Parrini E., Marini C., Mei D., Galuppi A., Cellini E., Pucatti D.,
Chiti L., Rutigliano D., Bianchini C., Virdo S., De Vita D.,
Bigoni S., Barba C., Mari F., Montomoli M., Pisano T., Rosati A.,
Guerrini R.;
"Diagnostic targeted resequencing in 349 patients with drug-resistant
pediatric epilepsies identifies causative mutations in 30 different
genes.";
Hum. Mutat. 38:216-225(2017).
-!- FUNCTION: 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. Therefore, it is important in
the regulation of neuronal excitability. KCNQ2/KCNQ3 current is
blocked by linopirdine and XE991, and activated by the
anticonvulsant retigabine (PubMed:9836639, PubMed:11572947,
PubMed:14534157, PubMed:12742592, PubMed:17872363). As the native
M-channel, the potassium channel composed of KCNQ2 and KCNQ3 is
also suppressed by activation of the muscarinic acetylcholine
receptor CHRM1 (PubMed:10684873). {ECO:0000269|PubMed:10684873,
ECO:0000269|PubMed:11572947, ECO:0000269|PubMed:12742592,
ECO:0000269|PubMed:14534157, ECO:0000269|PubMed:17872363,
ECO:0000269|PubMed:25740509, ECO:0000269|PubMed:9836639}.
-!- SUBUNIT: Heterotetramer with KCNQ3; form the heterotetrameric M
potassium channel (PubMed:9836639, PubMed:27564677). Interacts
with calmodulin; the interaction is calcium-independent,
constitutive and participates to the proper assembly of a
functional heterotetrameric M channel (PubMed:27564677). May
associate with KCNE2 (PubMed:11034315). Interacts with IQCJ-SCHIP1
(By similarity). {ECO:0000250|UniProtKB:Q9Z351,
ECO:0000269|PubMed:11034315, ECO:0000269|PubMed:27564677,
ECO:0000269|PubMed:9836639}.
-!- SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:10788442,
ECO:0000269|PubMed:9836639}; Multi-pass membrane protein
{ECO:0000255}.
-!- ALTERNATIVE PRODUCTS:
Event=Alternative splicing; Named isoforms=6;
Comment=Additional isoforms seem to exist.;
Name=1;
IsoId=O43526-1; Sequence=Displayed;
Name=2;
IsoId=O43526-2; Sequence=VSP_000988;
Name=3;
IsoId=O43526-3; Sequence=VSP_000985, VSP_000988;
Note=May be produced at very low levels due to a premature stop
codon in the mRNA, leading to nonsense-mediated mRNA decay.;
Name=4;
IsoId=O43526-4; Sequence=VSP_000989, VSP_000990;
Name=5;
IsoId=O43526-5; Sequence=VSP_000984, VSP_000988;
Name=6; Synonyms=HNSPC;
IsoId=O43526-6; Sequence=VSP_000986, VSP_000987;
-!- TISSUE SPECIFICITY: In adult and fetal brain. Highly expressed in
areas containing neuronal cell bodies, low in spinal chord and
corpus callosum. Isoform 2 is preferentially expressed in
differentiated neurons. Isoform 6 is prominent in fetal brain,
undifferentiated neuroblastoma cells and brain tumors.
{ECO:0000269|PubMed:10781098}.
-!- DOMAIN: The segment S4 is probably the voltage-sensor and is
characterized by a series of positively charged amino acids at
every third position. {ECO:0000250}.
-!- PTM: KCNQ2/KCNQ3 heteromeric current can be increased by
intracellular cyclic AMP, an effect that depends on
phosphorylation of Ser-52 in the N-terminal region.
{ECO:0000269|PubMed:16319223, ECO:0000269|PubMed:9872318}.
-!- PTM: KCNQ2/KCNQ3 are ubiquitinated by NEDD4L. Ubiquitination leads
to protein degradation (Probable). Degradation induced by NEDD4L
is inhibited by USP36 (PubMed:27445338).
{ECO:0000269|PubMed:27445338, ECO:0000305|PubMed:27445338}.
-!- DISEASE: Seizures, benign familial neonatal 1 (BFNS1)
[MIM:121200]: A disorder characterized by clusters of seizures
occurring in the first days of life. Most patients have
spontaneous remission by 12 months of age and show normal
psychomotor development. Some rare cases manifest an atypical
severe phenotype associated with epileptic encephalopathy and
psychomotor retardation. The disorder is distinguished from benign
familial infantile seizures by an earlier age at onset. In some
patients, neonatal convulsions are followed later in life by
myokymia, a benign condition characterized by spontaneous
involuntary contractions of skeletal muscles fiber groups that can
be observed as vermiform movement of the overlying skin.
Electromyography typically shows continuous motor unit activity
with spontaneous oligo- and multiplet-discharges of high
intraburst frequency (myokymic discharges). Some patients may have
isolated myokymia. {ECO:0000269|PubMed:11175290,
ECO:0000269|PubMed:11572947, ECO:0000269|PubMed:14534157,
ECO:0000269|PubMed:15249611, ECO:0000269|PubMed:23360469,
ECO:0000269|PubMed:25982755, ECO:0000269|PubMed:26993267,
ECO:0000269|PubMed:9425895}. Note=The disease is caused by
mutations affecting the gene represented in this entry.
-!- DISEASE: Epileptic encephalopathy, early infantile, 7 (EIEE7)
[MIM:613720]: An autosomal dominant seizure disorder characterized
by infantile onset of refractory seizures with resultant delayed
neurologic development and persistent neurologic abnormalities.
{ECO:0000269|PubMed:12742592, ECO:0000269|PubMed:15249611,
ECO:0000269|PubMed:24463883, ECO:0000269|PubMed:25740509,
ECO:0000269|PubMed:25818041, ECO:0000269|PubMed:26138355,
ECO:0000269|PubMed:26993267, ECO:0000269|PubMed:27864847}.
Note=The disease is caused by mutations affecting the gene
represented in this entry.
-!- MISCELLANEOUS: Inclusion of isoform 6 in heteromultimers results
in attenuation of potassium current. Prominent expression of
isoform 6 in the developing brain may alter firing repertoires of
immature neurons excitability to provide cues for proliferation
rather than differentiation.
-!- SIMILARITY: Belongs to the potassium channel family. KQT (TC
1.A.1.15) subfamily. Kv7.2/KCNQ2 sub-subfamily. {ECO:0000305}.
-----------------------------------------------------------------------
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EMBL; D82346; BAA11557.1; -; mRNA.
EMBL; AF033348; AAB97315.1; -; mRNA.
EMBL; Y15065; CAA75348.1; -; mRNA.
EMBL; AF110020; AAD16988.1; -; mRNA.
EMBL; AF074247; AAC25921.1; -; mRNA.
EMBL; AL121827; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; AL121829; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; AL353658; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; BC000699; AAH00699.1; -; mRNA.
CCDS; CCDS13518.1; -. [O43526-3]
CCDS; CCDS13519.1; -. [O43526-2]
CCDS; CCDS13520.1; -. [O43526-1]
CCDS; CCDS13521.1; -. [O43526-6]
CCDS; CCDS46629.1; -. [O43526-4]
PIR; JC5275; JC5275.
RefSeq; NP_004509.2; NM_004518.5. [O43526-3]
RefSeq; NP_742104.1; NM_172106.2. [O43526-2]
RefSeq; NP_742105.1; NM_172107.3. [O43526-1]
RefSeq; NP_742106.1; NM_172108.4. [O43526-4]
RefSeq; NP_742107.1; NM_172109.2. [O43526-6]
UniGene; Hs.161851; -.
UniGene; Hs.652468; -.
PDB; 5J03; X-ray; 2.00 A; A=530-557.
PDB; 6FEG; NMR; -; A=326-372.
PDB; 6FEH; NMR; -; A=326-372.
PDBsum; 5J03; -.
PDBsum; 6FEG; -.
PDBsum; 6FEH; -.
ProteinModelPortal; O43526; -.
SMR; O43526; -.
BioGrid; 109986; 7.
CORUM; O43526; -.
IntAct; O43526; 1.
STRING; 9606.ENSP00000352035; -.
BindingDB; O43526; -.
ChEMBL; CHEMBL2476; -.
DrugBank; DB00321; Amitriptyline.
DrugBank; DB00586; Diclofenac.
DrugBank; DB04953; Ezogabine.
DrugBank; DB06089; ICA-105665.
DrugBank; DB00939; Meclofenamic acid.
GuidetoPHARMACOLOGY; 561; -.
TCDB; 1.A.1.15.2; the voltage-gated ion channel (vic) superfamily.
iPTMnet; O43526; -.
PhosphoSitePlus; O43526; -.
BioMuta; KCNQ2; -.
PaxDb; O43526; -.
PeptideAtlas; O43526; -.
PRIDE; O43526; -.
ProteomicsDB; 49031; -.
ProteomicsDB; 49032; -. [O43526-2]
ProteomicsDB; 49033; -. [O43526-3]
ProteomicsDB; 49034; -. [O43526-4]
ProteomicsDB; 49035; -. [O43526-5]
ProteomicsDB; 49036; -. [O43526-6]
DNASU; 3785; -.
Ensembl; ENST00000344425; ENSP00000345523; ENSG00000075043. [O43526-6]
Ensembl; ENST00000344462; ENSP00000339611; ENSG00000075043. [O43526-4]
Ensembl; ENST00000359125; ENSP00000352035; ENSG00000075043. [O43526-1]
Ensembl; ENST00000360480; ENSP00000353668; ENSG00000075043. [O43526-3]
Ensembl; ENST00000626839; ENSP00000486706; ENSG00000075043. [O43526-2]
GeneID; 3785; -.
KEGG; hsa:3785; -.
UCSC; uc002yey.2; human. [O43526-1]
CTD; 3785; -.
DisGeNET; 3785; -.
EuPathDB; HostDB:ENSG00000075043.17; -.
GeneCards; KCNQ2; -.
GeneReviews; KCNQ2; -.
HGNC; HGNC:6296; KCNQ2.
HPA; HPA016642; -.
HPA; HPA057112; -.
MalaCards; KCNQ2; -.
MIM; 121200; phenotype.
MIM; 602235; gene.
MIM; 613720; phenotype.
neXtProt; NX_O43526; -.
OpenTargets; ENSG00000075043; -.
Orphanet; 306; Benign familial infantile epilepsy.
Orphanet; 1949; Benign familial neonatal seizures.
Orphanet; 140927; Benign familial neonatal-infantile seizures.
Orphanet; 1934; Early infantile epileptic encephalopathy.
PharmGKB; PA30074; -.
eggNOG; KOG1419; Eukaryota.
eggNOG; COG1226; LUCA.
GeneTree; ENSGT00550000074513; -.
HOVERGEN; HBG059014; -.
InParanoid; O43526; -.
KO; K04927; -.
OMA; VTVPMYS; -.
OrthoDB; EOG091G02ZT; -.
PhylomeDB; O43526; -.
TreeFam; TF315186; -.
Reactome; R-HSA-1296072; Voltage gated Potassium channels.
Reactome; R-HSA-445095; Interaction between L1 and Ankyrins.
SIGNOR; O43526; -.
ChiTaRS; KCNQ2; human.
GeneWiki; KvLQT2; -.
GenomeRNAi; 3785; -.
PRO; PR:O43526; -.
Proteomes; UP000005640; Chromosome 20.
Bgee; ENSG00000075043; Expressed in 112 organ(s), highest expression level in right hemisphere of cerebellum.
CleanEx; HS_KCNQ2; -.
ExpressionAtlas; O43526; baseline and differential.
Genevisible; O43526; HS.
GO; GO:0043194; C:axon initial segment; ISS:BHF-UCL.
GO; GO:0016021; C:integral component of membrane; IBA:GO_Central.
GO; GO:0005887; C:integral component of plasma membrane; IDA:UniProtKB.
GO; GO:0033268; C:node of Ranvier; ISS:BHF-UCL.
GO; GO:0005886; C:plasma membrane; ISS:BHF-UCL.
GO; GO:0008076; C:voltage-gated potassium channel complex; IDA:UniProtKB.
GO; GO:0030506; F:ankyrin binding; IPI:BHF-UCL.
GO; GO:0005516; F:calmodulin binding; IDA:UniProtKB.
GO; GO:0005249; F:voltage-gated potassium channel activity; IDA:UniProtKB.
GO; GO:0007268; P:chemical synaptic transmission; TAS:ProtInc.
GO; GO:0007399; P:nervous system development; TAS:ProtInc.
GO; GO:0071805; P:potassium ion transmembrane transport; IDA:UniProtKB.
GO; GO:0034765; P:regulation of ion transmembrane transport; IEA:UniProtKB-KW.
InterPro; IPR020969; Ankyrin-G_BS.
InterPro; IPR005821; Ion_trans_dom.
InterPro; IPR003937; K_chnl_volt-dep_KCNQ.
InterPro; IPR003947; K_chnl_volt-dep_KCNQ2.
InterPro; IPR013821; K_chnl_volt-dep_KCNQ_C.
InterPro; IPR028325; VG_K_chnl.
PANTHER; PTHR11537; PTHR11537; 1.
PANTHER; PTHR11537:SF6; PTHR11537:SF6; 1.
Pfam; PF00520; Ion_trans; 1.
Pfam; PF03520; KCNQ_channel; 1.
Pfam; PF11956; KCNQC3-Ank-G_bd; 1.
PRINTS; PR00169; KCHANNEL.
PRINTS; PR01461; KCNQ2CHANNEL.
PRINTS; PR01459; KCNQCHANNEL.
1: Evidence at protein level;
3D-structure; Alternative splicing; Cell membrane; Complete proteome;
Disease mutation; Epilepsy; Ion channel; Ion transport; Membrane;
Mental retardation; Phosphoprotein; Polymorphism; Potassium;
Potassium channel; Potassium transport; Reference proteome;
Transmembrane; Transmembrane helix; Transport; Ubl conjugation;
Voltage-gated channel.
CHAIN 1 872 Potassium voltage-gated channel subfamily
KQT member 2.
/FTId=PRO_0000054030.
TOPO_DOM 1 91 Cytoplasmic. {ECO:0000255}.
TRANSMEM 92 112 Helical; Name=Segment S1. {ECO:0000255}.
TOPO_DOM 113 122 Extracellular. {ECO:0000255}.
TRANSMEM 123 143 Helical; Name=Segment S2. {ECO:0000255}.
TOPO_DOM 144 166 Cytoplasmic. {ECO:0000255}.
TRANSMEM 167 187 Helical; Name=Segment S3. {ECO:0000255}.
TOPO_DOM 188 195 Extracellular. {ECO:0000255}.
TRANSMEM 196 218 Helical; Voltage-sensor; Name=Segment S4.
{ECO:0000255}.
TOPO_DOM 219 231 Cytoplasmic. {ECO:0000255}.
TRANSMEM 232 252 Helical; Name=Segment S5. {ECO:0000255}.
TOPO_DOM 253 264 Extracellular. {ECO:0000255}.
INTRAMEM 265 285 Pore-forming; Name=Segment H5.
{ECO:0000255}.
TOPO_DOM 286 291 Extracellular. {ECO:0000255}.
TRANSMEM 292 312 Helical; Name=Segment S6. {ECO:0000255}.
TOPO_DOM 313 872 Cytoplasmic. {ECO:0000255}.
REGION 317 539 Mediates interaction with calmodulin.
{ECO:0000269|PubMed:27564677}.
MOTIF 277 282 Selectivity filter. {ECO:0000250}.
MOD_RES 52 52 Phosphoserine; by PKA.
{ECO:0000269|PubMed:9872318}.
MOD_RES 217 217 Phosphothreonine.
{ECO:0000269|PubMed:16319223}.
MOD_RES 466 466 Phosphoserine.
{ECO:0000250|UniProtKB:Q9Z351}.
MOD_RES 468 468 Phosphoserine.
{ECO:0000250|UniProtKB:Q9Z351}.
MOD_RES 472 472 Phosphoserine.
{ECO:0000250|UniProtKB:Q9Z351}.
MOD_RES 476 476 Phosphoserine.
{ECO:0000250|UniProtKB:Q9Z351}.
MOD_RES 478 478 Phosphoserine.
{ECO:0000250|UniProtKB:Q9Z351}.
MOD_RES 507 507 Phosphoserine.
{ECO:0000250|UniProtKB:O88943}.
MOD_RES 672 672 Phosphoserine.
{ECO:0000250|UniProtKB:O88943}.
MOD_RES 801 801 Phosphoserine.
{ECO:0000250|UniProtKB:O88943}.
MOD_RES 803 803 Phosphoserine.
{ECO:0000250|UniProtKB:O88943}.
VAR_SEQ 310 320 Missing (in isoform 5).
{ECO:0000303|PubMed:9827540}.
/FTId=VSP_000984.
VAR_SEQ 373 393 SSQTQTYGASRLIPPLNQLEL -> RYRRRAPATKQLFHFL
FSICS (in isoform 6).
{ECO:0000303|PubMed:15489334,
ECO:0000303|PubMed:9039501}.
/FTId=VSP_000986.
VAR_SEQ 373 382 Missing (in isoform 3).
{ECO:0000303|PubMed:9430594}.
/FTId=VSP_000985.
VAR_SEQ 394 872 Missing (in isoform 6).
{ECO:0000303|PubMed:15489334,
ECO:0000303|PubMed:9039501}.
/FTId=VSP_000987.
VAR_SEQ 417 446 Missing (in isoform 4).
{ECO:0000303|PubMed:9836639}.
/FTId=VSP_000989.
VAR_SEQ 417 434 Missing (in isoform 2, isoform 3 and
isoform 5). {ECO:0000303|PubMed:11160379,
ECO:0000303|PubMed:9430594,
ECO:0000303|PubMed:9827540}.
/FTId=VSP_000988.
VAR_SEQ 509 509 Missing (in isoform 4).
{ECO:0000303|PubMed:9836639}.
/FTId=VSP_000990.
VARIANT 114 114 T -> A (in BFNS1; dbSNP:rs1057516076).
{ECO:0000269|PubMed:25982755}.
/FTId=VAR_078658.
VARIANT 154 154 Y -> D (in BFNS1; with infantile
seizures; dbSNP:rs1057516078).
{ECO:0000269|PubMed:23360469}.
/FTId=VAR_078659.
VARIANT 159 159 G -> E (in BFNS1; dbSNP:rs1057516081).
{ECO:0000269|PubMed:23360469}.
/FTId=VAR_078660.
VARIANT 159 159 G -> R (in BFNS1; dbSNP:rs1057516080).
{ECO:0000269|PubMed:25982755}.
/FTId=VAR_078661.
VARIANT 196 196 A -> V (in BFNS1; with infantile
seizures; dbSNP:rs118192199).
{ECO:0000269|PubMed:23360469}.
/FTId=VAR_078662.
VARIANT 201 201 R -> C (in EIEE7; gain-of-function
mutation; results in loss of voltage-
dependent channel gating and highly
increased potassium currents;
dbSNP:rs796052623).
{ECO:0000269|PubMed:25740509,
ECO:0000269|PubMed:26993267}.
/FTId=VAR_078663.
VARIANT 204 872 Missing (in BFNS1).
{ECO:0000269|PubMed:25982755}.
/FTId=VAR_078664.
VARIANT 207 207 R -> Q (found in a patient with isolated
myokymia; leads to a shift of voltage-
dependent activation; dbSNP:rs118192200).
{ECO:0000269|PubMed:17872363}.
/FTId=VAR_043819.
VARIANT 207 207 R -> W (in BFNS1; phenotype
manifestations include myokymia in some
patients; leads to a shift of voltage-
dependent activation of the channel and a
dramatic slowing of activation upon
depolarization; dbSNP:rs74315391).
{ECO:0000269|PubMed:11572947}.
/FTId=VAR_026987.
VARIANT 208 208 M -> V (in BFNS1; minor effect on maximal
current but clearly exhibits a faster
rate of deactivation; dbSNP:rs118192201).
{ECO:0000269|PubMed:14534157}.
/FTId=VAR_026988.
VARIANT 210 210 R -> C (in EIEE7; dbSNP:rs796052626).
{ECO:0000269|PubMed:25818041}.
/FTId=VAR_078665.
VARIANT 213 213 R -> Q (in BFNS1 and EIEE7;
dbSNP:rs397514581).
{ECO:0000269|PubMed:25982755,
ECO:0000269|PubMed:26993267}.
/FTId=VAR_078666.
VARIANT 213 213 R -> W (in BFNS1; unknown pathological
significance; dbSNP:rs118192203).
{ECO:0000269|PubMed:26993267}.
/FTId=VAR_078667.
VARIANT 214 214 R -> W (in BFNS1; dbSNP:rs28939684).
{ECO:0000269|PubMed:11175290}.
/FTId=VAR_010929.
VARIANT 217 217 T -> A (in BFNS1; also in patients with
infantile seizures; dbSNP:rs1057516089).
{ECO:0000269|PubMed:23360469}.
/FTId=VAR_078668.
VARIANT 228 228 H -> Q (in BFNS1; dbSNP:rs118192204).
{ECO:0000269|PubMed:14534157}.
/FTId=VAR_026989.
VARIANT 234 234 T -> P (in EIEE7; dbSNP:rs1057516091).
{ECO:0000269|PubMed:25818041}.
/FTId=VAR_078669.
VARIANT 243 243 L -> F (in BFNS1; dbSNP:rs118192205).
{ECO:0000269|PubMed:14534157}.
/FTId=VAR_026990.
VARIANT 247 247 S -> W (in EIEE7; reduces channel
currents by more than 50% in homomeric
channels; dbSNP:rs74315392).
{ECO:0000269|PubMed:12742592}.
/FTId=VAR_026991.
VARIANT 266 266 D -> E (in EIEE7; patient also manifests
dyskinesia; dbSNP:rs1057519536).
{ECO:0000269|PubMed:27864847}.
/FTId=VAR_078207.
VARIANT 268 268 L -> F (in EIEE7; dbSNP:rs1057516094).
{ECO:0000269|PubMed:27864847}.
/FTId=VAR_078208.
VARIANT 276 276 T -> I (in EIEE7; dbSNP:rs1057516095).
{ECO:0000269|PubMed:24463883}.
/FTId=VAR_078670.
VARIANT 284 284 Y -> C (in BFNS1; 30%-60% reduction of wt
current in heteromeric channels;
dbSNP:rs28939683).
{ECO:0000269|PubMed:14534157,
ECO:0000269|PubMed:9425895,
ECO:0000269|PubMed:9872318}.
/FTId=VAR_010930.
VARIANT 291 291 R -> S (in EIEE7; dbSNP:rs1057519535).
{ECO:0000269|PubMed:27864847}.
/FTId=VAR_078209.
VARIANT 294 294 A -> V (in EIEE7; dbSNP:rs118192211).
{ECO:0000269|PubMed:27864847}.
/FTId=VAR_078210.
VARIANT 301 301 G -> S (in EIEE7; dbSNP:rs1057516099).
{ECO:0000269|PubMed:27864847}.
/FTId=VAR_078211.
VARIANT 306 306 A -> T (in BFNS1 and EIEE7; 20%-40%
reduction of wt current in heteromeric
channels; dbSNP:rs74315390).
{ECO:0000269|PubMed:14534157,
ECO:0000269|PubMed:26138355,
ECO:0000269|PubMed:9425895,
ECO:0000269|PubMed:9872318}.
/FTId=VAR_010931.
VARIANT 333 333 R -> Q (in BFNS1; moderate effect; less
than 50% reduction in current compared
with wt heteromeric channels;
dbSNP:rs118192216).
{ECO:0000269|PubMed:14534157}.
/FTId=VAR_026992.
VARIANT 353 353 R -> G (in BFNS1; dbSNP:rs118192218).
{ECO:0000269|PubMed:25982755}.
/FTId=VAR_078671.
VARIANT 358 358 S -> F (in BFNS1; dbSNP:rs1057516110).
{ECO:0000269|PubMed:25982755}.
/FTId=VAR_078672.
VARIANT 448 872 Missing (in BFNS1; with infantile
seizures). {ECO:0000269|PubMed:23360469,
ECO:0000269|PubMed:25982755}.
/FTId=VAR_078673.
VARIANT 547 547 R -> W (in BFNS1; dbSNP:rs796052650).
{ECO:0000269|PubMed:23360469}.
/FTId=VAR_078674.
VARIANT 554 554 K -> N (in BFNS1 and EIEE7; decreases the
voltage-dependence of the channel;
dbSNP:rs267607198).
{ECO:0000269|PubMed:15249611}.
/FTId=VAR_026993.
VARIANT 561 561 P -> S (in EIEE7).
{ECO:0000269|PubMed:26993267}.
/FTId=VAR_078675.
VARIANT 578 579 ML -> IM (in EIEE7; dbSNP:rs796052665).
{ECO:0000269|PubMed:25818041}.
/FTId=VAR_078676.
VARIANT 578 578 M -> V (in BFNS1; dbSNP:rs1057516123).
{ECO:0000269|PubMed:25982755}.
/FTId=VAR_078677.
VARIANT 581 872 Missing (in BFNS1).
{ECO:0000269|PubMed:25982755,
ECO:0000269|PubMed:26993267}.
/FTId=VAR_078678.
VARIANT 581 581 R -> Q (in EIEE7; dbSNP:rs118192235).
{ECO:0000269|PubMed:27864847}.
/FTId=VAR_078212.
VARIANT 588 588 R -> S (in BFNS1; dbSNP:rs118192237).
{ECO:0000269|PubMed:25982755}.
/FTId=VAR_078679.
VARIANT 637 637 L -> R (in BFNS1; dbSNP:rs118192240).
{ECO:0000269|PubMed:25982755}.
/FTId=VAR_078680.
VARIANT 777 777 P -> S (found in a patient with
continuous spikes and waves during sleep;
unknown pathological significance;
dbSNP:rs748400155).
{ECO:0000269|PubMed:27864847}.
/FTId=VAR_078213.
VARIANT 780 780 N -> T (in dbSNP:rs1801475).
{ECO:0000269|PubMed:10323247}.
/FTId=VAR_010932.
MUTAGEN 52 52 S->E: 40% increase in potassium current
amplitude. Ratio of 1:1.
{ECO:0000269|PubMed:9872318}.
MUTAGEN 52 52 S->Q: Decrease of PKA stimulation. Ratio
of 1:1. {ECO:0000269|PubMed:9872318}.
MUTAGEN 217 217 T->A: No effect on current or expression.
{ECO:0000269|PubMed:16319223}.
MUTAGEN 217 217 T->D: Abolishes currents without reducing
channel protein expression.
{ECO:0000269|PubMed:16319223}.
MUTAGEN 279 279 G->S: More than 50% reduction of wt
heteromeric current. Ratio of 1:1 and
1:1:2. {ECO:0000269|PubMed:9872318}.
CONFLICT 699 699 K -> E (in Ref. 4; AAD16988).
{ECO:0000305}.
CONFLICT 854 854 R -> C (in Ref. 4; AAD16988).
{ECO:0000305}.
STRAND 353 356 {ECO:0000244|PDB:6FEH}.
HELIX 357 367 {ECO:0000244|PDB:6FEG}.
STRAND 368 370 {ECO:0000244|PDB:6FEG}.
HELIX 535 556 {ECO:0000244|PDB:5J03}.
SEQUENCE 872 AA; 95848 MW; 22E8A0880A27B58C CRC64;
MVQKSRNGGV YPGPSGEKKL KVGFVGLDPG APDSTRDGAL LIAGSEAPKR GSILSKPRAG
GAGAGKPPKR NAFYRKLQNF LYNVLERPRG WAFIYHAYVF LLVFSCLVLS VFSTIKEYEK
SSEGALYILE IVTIVVFGVE YFVRIWAAGC CCRYRGWRGR LKFARKPFCV IDIMVLIASI
AVLAAGSQGN VFATSALRSL RFLQILRMIR MDRRGGTWKL LGSVVYAHSK ELVTAWYIGF
LCLILASFLV YLAEKGENDH FDTYADALWW GLITLTTIGY GDKYPQTWNG RLLAATFTLI
GVSFFALPAG ILGSGFALKV QEQHRQKHFE KRRNPAAGLI QSAWRFYATN LSRTDLHSTW
QYYERTVTVP MYSSQTQTYG ASRLIPPLNQ LELLRNLKSK SGLAFRKDPP PEPSPSKGSP
CRGPLCGCCP GRSSQKVSLK DRVFSSPRGV AAKGKGSPQA QTVRRSPSAD QSLEDSPSKV
PKSWSFGDRS RARQAFRIKG AASRQNSEEA SLPGEDIVDD KSCPCEFVTE DLTPGLKVSI
RAVCVMRFLV SKRKFKESLR PYDVMDVIEQ YSAGHLDMLS RIKSLQSRVD QIVGRGPAIT
DKDRTKGPAE AELPEDPSMM GRLGKVEKQV LSMEKKLDFL VNIYMQRMGI PPTETEAYFG
AKEPEPAPPY HSPEDSREHV DRHGCIVKIV RSSSSTGQKN FSAPPAAPPV QCPPSTSWQP
QSHPRQGHGT SPVGDHGSLV RIPPPPAHER SLSAYGGGNR ASMEFLRQED TPGCRPPEGN
LRDSDTSISI PSVDHEELER SFSGFSISQS KENLDALNSC YAAVAPCAKV RPYIAEGESD
TDSDLCTPCG PPPRSATGEG PFGDVGWAGP RK


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28-297 This gene encodes a member of the potassium channel, voltage-gated, subfamily H. This member is a pore-forming (alpha) subunit of a voltage-gated non-inactivating delayed rectifier potassium channel. 0.1 mg
18-662-20074 Potassium voltage-gated channel subfamily C member 1 - Voltage-gated potassium channel subunit Kv3.1; Kv4; NGK2; RAW2 Polyclonal 0.1 ml
18-662-20009 Potassium voltage-gated channel subfamily B member 2 - Voltage-gated potassium channel subunit Kv2.2; CDRK Polyclonal 0.1 ml
18-003-43133 Potassium voltage-gated channel subfamily G member 1 - Voltage-gated potassium channel subunit Kv6.1; kH2 Polyclonal 0.05 mg Aff Pur
18-003-42629 Potassium voltage-gated channel subfamily D member 3 - Voltage-gated potassium channel subunit Kv4.3 Polyclonal 0.1 mg Protein A
18-003-42631 Cyclic GMP gated potassium channel - Potassium voltage-gated channel. shaker-related subfamily. member 10 Polyclonal 0.1 mg Protein A
18-003-42670 Kv channel-interacting protein 2 - KChIP2; A-type potassium channel modulatory protein 2; Potassium channel-interacting protein 2; Cardiac voltage-gated potassium channel modulatory subunit Polyclonal 0.05 mg Aff Pur
18-003-42669 Kv channel-interacting protein 2 - KChIP2; A-type potassium channel modulatory protein 2; Potassium channel-interacting protein 2; Cardiac voltage-gated potassium channel modulatory subunit Polyclonal 0.05 mg Aff Pur
Y062354 Anti-Potassium Channel Kv<_SUB>1.6 (Voltage-gated, Delayed-Rectifier Potassium Channel; RCK2; KV2) produced in rabbit Antibody 100ul
EIAAB26323 Four domain-type voltage-gated ion channel alpha-1 subunit,Nalcn,Nca,Rat,Rattus norvegicus,Sodium leak channel non-selective protein,Vgcnl1,Voltage gated channel-like protein 1
EIAAB05033 CACNA1H,Homo sapiens,Human,Low-voltage-activated calcium channel alpha1 3.2 subunit,Voltage-dependent T-type calcium channel subunit alpha-1H,Voltage-gated calcium channel subunit alpha Cav3.2
E15045p Pig ELISA Kit FOR Potassium voltage-gated channel subfamily H member 2 96T
KCNH4_RAT Rat ELISA Kit FOR Potassium voltage-gated channel subfamily H member 4 96T
KCNG3_RAT Rat ELISA Kit FOR Potassium voltage-gated channel subfamily G member 3 96T
EH2214 Potassium voltage-gated channel subfamily B member 2 Elisa Kit 96T
KCNH2_RAT Rat ELISA Kit FOR Potassium voltage-gated channel subfamily H member 2 96T
E0522m Rat ELISA Kit FOR Potassium voltage-gated channel subfamily KQT member 1 96T
E0614m Rat ELISA Kit FOR Potassium voltage-gated channel subfamily KQT member 2 96T
E1366h Rat ELISA Kit FOR Potassium voltage-gated channel subfamily H member 1 96T
KCNQ1_PIG Pig ELISA Kit FOR Potassium voltage-gated channel subfamily KQT member 1 96T
WDR64_MOUSE Rat ELISA Kit FOR Potassium voltage-gated channel subfamily KQT member 2 96T
PPAC_MOUSE Rat ELISA Kit FOR Potassium voltage-gated channel subfamily KQT member 1 96T
KCNA5_RAT Rat ELISA Kit FOR Potassium voltage-gated channel subfamily A member 5 96T


 

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