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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.
29-SEP-2021, entry version 216.
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; DOI=10.1523/jneurosci.21-04-01096.2001;
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; DOI=10.1523/jneurosci.19-18-07742.1999;
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; DOI=10.1523/jneurosci.20-05-01710.2000;
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; DOI=10.1124/mol.58.2.253;
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; DOI=10.1124/mol.58.3.591;
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:0007744|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/pl00008713;
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 DEE7 TRP-247, CHARACTERIZATION OF VARIANT DEE7 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 DEE7 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 DEE7 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 DEE7 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 DEE7 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 DEE7 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 DEE7 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 DEE7 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 in 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;
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 variants affecting the gene represented in this
entry.
-!- DISEASE: Developmental and epileptic encephalopathy 7 (DEE7)
[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 variants 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.
-!- MISCELLANEOUS: [Isoform 3]: May be produced at very low levels due to a
premature stop codon in the mRNA, leading to nonsense-mediated mRNA
decay. {ECO:0000305}.
-!- 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]
PDB; 5J03; X-ray; 2.00 A; A=530-557.
PDB; 6FEG; NMR; -; A=326-372.
PDB; 6FEH; NMR; -; A=326-372.
PDB; 7CR0; EM; 3.10 A; A/B/C/D=64-702.
PDB; 7CR1; EM; 3.40 A; A/B/C/D=64-702.
PDB; 7CR2; EM; 3.20 A; A/B/C/D=64-702.
PDB; 7CR3; EM; 3.60 A; A/B/D/G=64-702.
PDB; 7CR4; EM; 3.90 A; A/B/D/F=64-702.
PDB; 7CR7; EM; 3.70 A; A/B/D/G=64-702.
PDBsum; 5J03; -.
PDBsum; 6FEG; -.
PDBsum; 6FEH; -.
PDBsum; 7CR0; -.
PDBsum; 7CR1; -.
PDBsum; 7CR2; -.
PDBsum; 7CR3; -.
PDBsum; 7CR4; -.
PDBsum; 7CR7; -.
SMR; O43526; -.
BioGRID; 109986; 8.
CORUM; O43526; -.
IntAct; O43526; 3.
STRING; 9606.ENSP00000352035; -.
BindingDB; O43526; -.
ChEMBL; CHEMBL2476; -.
DrugBank; DB00321; Amitriptyline.
DrugBank; DB00586; Diclofenac.
DrugBank; DB00228; Enflurane.
DrugBank; DB04953; Ezogabine.
DrugBank; DB06089; ICA-105665.
DrugBank; DB00939; Meclofenamic acid.
DrugBank; DB01110; Miconazole.
DrugBank; DB01069; Promethazine.
DrugCentral; O43526; -.
GuidetoPHARMACOLOGY; 561; -.
TCDB; 1.A.1.15.2; the voltage-gated ion channel (vic) superfamily.
iPTMnet; O43526; -.
PhosphoSitePlus; O43526; -.
BioMuta; KCNQ2; -.
jPOST; O43526; -.
MassIVE; O43526; -.
PaxDb; O43526; -.
PeptideAtlas; O43526; -.
PRIDE; O43526; -.
ProteomicsDB; 49031; -. [O43526-1]
ProteomicsDB; 49032; -. [O43526-2]
ProteomicsDB; 49033; -. [O43526-3]
ProteomicsDB; 49034; -. [O43526-4]
ProteomicsDB; 49035; -. [O43526-5]
ProteomicsDB; 49036; -. [O43526-6]
ABCD; O43526; 1 sequenced antibody.
Antibodypedia; 15101; 283 antibodies.
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; -.
GeneCards; KCNQ2; -.
GeneReviews; KCNQ2; -.
HGNC; HGNC:6296; KCNQ2.
HPA; ENSG00000075043; Tissue enriched (brain).
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 epilepsy.
Orphanet; 140927; Benign familial neonatal-infantile seizures.
Orphanet; 439218; KCNQ2-related epileptic encephalopathy.
Orphanet; 293181; Malignant migrating focal seizures of infancy.
PharmGKB; PA30074; -.
VEuPathDB; HostDB:ENSG00000075043; -.
eggNOG; KOG1419; Eukaryota.
GeneTree; ENSGT00940000160093; -.
HOGENOM; CLU_011722_1_6_1; -.
InParanoid; O43526; -.
OMA; AAGLIQX; -.
OrthoDB; 1168835at2759; -.
PhylomeDB; O43526; -.
TreeFam; TF315186; -.
PathwayCommons; O43526; -.
Reactome; R-HSA-1296072; Voltage gated Potassium channels.
Reactome; R-HSA-445095; Interaction between L1 and Ankyrins.
SIGNOR; O43526; -.
BioGRID-ORCS; 3785; 22 hits in 1010 CRISPR screens.
ChiTaRS; KCNQ2; human.
GeneWiki; KvLQT2; -.
GenomeRNAi; 3785; -.
Pharos; O43526; Tclin.
PRO; PR:O43526; -.
Proteomes; UP000005640; Chromosome 20.
RNAct; O43526; protein.
Bgee; ENSG00000075043; Expressed in right hemisphere of cerebellum and 129 other tissues.
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:0045202; C:synapse; IEA:GOC.
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:0005251; F:delayed rectifier potassium channel activity; IBA:GO_Central.
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; PR01461; KCNQ2CHANNEL.
PRINTS; PR01459; KCNQCHANNEL.
1: Evidence at protein level;
3D-structure; Alternative splicing; Cell membrane; Disease variant;
Epilepsy; Ion channel; Ion transport; Membrane; Mental retardation;
Phosphoprotein; Potassium; Potassium channel; Potassium transport;
Reference proteome; Transmembrane; Transmembrane helix; Transport;
Ubl conjugation; Voltage-gated channel.
CHAIN 1..872
/note="Potassium voltage-gated channel subfamily KQT member
2"
/id="PRO_0000054030"
TOPO_DOM 1..91
/note="Cytoplasmic"
/evidence="ECO:0000255"
TRANSMEM 92..112
/note="Helical; Name=Segment S1"
/evidence="ECO:0000255"
TOPO_DOM 113..122
/note="Extracellular"
/evidence="ECO:0000255"
TRANSMEM 123..143
/note="Helical; Name=Segment S2"
/evidence="ECO:0000255"
TOPO_DOM 144..166
/note="Cytoplasmic"
/evidence="ECO:0000255"
TRANSMEM 167..187
/note="Helical; Name=Segment S3"
/evidence="ECO:0000255"
TOPO_DOM 188..195
/note="Extracellular"
/evidence="ECO:0000255"
TRANSMEM 196..218
/note="Helical; Voltage-sensor; Name=Segment S4"
/evidence="ECO:0000255"
TOPO_DOM 219..231
/note="Cytoplasmic"
/evidence="ECO:0000255"
TRANSMEM 232..252
/note="Helical; Name=Segment S5"
/evidence="ECO:0000255"
TOPO_DOM 253..264
/note="Extracellular"
/evidence="ECO:0000255"
INTRAMEM 265..285
/note="Pore-forming; Name=Segment H5"
/evidence="ECO:0000255"
TOPO_DOM 286..291
/note="Extracellular"
/evidence="ECO:0000255"
TRANSMEM 292..312
/note="Helical; Name=Segment S6"
/evidence="ECO:0000255"
TOPO_DOM 313..872
/note="Cytoplasmic"
/evidence="ECO:0000255"
REGION 317..539
/note="Mediates interaction with calmodulin"
/evidence="ECO:0000269|PubMed:27564677"
REGION 402..422
/note="Disordered"
/evidence="ECO:0000256|SAM:MobiDB-lite"
REGION 442..488
/note="Disordered"
/evidence="ECO:0000256|SAM:MobiDB-lite"
REGION 598..619
/note="Disordered"
/evidence="ECO:0000256|SAM:MobiDB-lite"
REGION 659..680
/note="Disordered"
/evidence="ECO:0000256|SAM:MobiDB-lite"
REGION 693..757
/note="Disordered"
/evidence="ECO:0000256|SAM:MobiDB-lite"
REGION 838..872
/note="Disordered"
/evidence="ECO:0000256|SAM:MobiDB-lite"
MOTIF 277..282
/note="Selectivity filter"
/evidence="ECO:0000250"
COMPBIAS 459..479
/note="Polar residues"
/evidence="ECO:0000256|SAM:MobiDB-lite"
MOD_RES 52
/note="Phosphoserine; by PKA"
/evidence="ECO:0000269|PubMed:9872318"
MOD_RES 217
/note="Phosphothreonine"
/evidence="ECO:0000269|PubMed:16319223"
MOD_RES 466
/note="Phosphoserine"
/evidence="ECO:0000250|UniProtKB:Q9Z351"
MOD_RES 468
/note="Phosphoserine"
/evidence="ECO:0000250|UniProtKB:Q9Z351"
MOD_RES 472
/note="Phosphoserine"
/evidence="ECO:0000250|UniProtKB:Q9Z351"
MOD_RES 476
/note="Phosphoserine"
/evidence="ECO:0000250|UniProtKB:Q9Z351"
MOD_RES 478
/note="Phosphoserine"
/evidence="ECO:0000250|UniProtKB:Q9Z351"
MOD_RES 507
/note="Phosphoserine"
/evidence="ECO:0000250|UniProtKB:O88943"
MOD_RES 672
/note="Phosphoserine"
/evidence="ECO:0000250|UniProtKB:O88943"
MOD_RES 801
/note="Phosphoserine"
/evidence="ECO:0000250|UniProtKB:O88943"
MOD_RES 803
/note="Phosphoserine"
/evidence="ECO:0000250|UniProtKB:O88943"
VAR_SEQ 310..320
/note="Missing (in isoform 5)"
/evidence="ECO:0000303|PubMed:9827540"
/id="VSP_000984"
VAR_SEQ 373..393
/note="SSQTQTYGASRLIPPLNQLEL -> RYRRRAPATKQLFHFLFSICS (in
isoform 6)"
/evidence="ECO:0000303|PubMed:15489334,
ECO:0000303|PubMed:9039501"
/id="VSP_000986"
VAR_SEQ 373..382
/note="Missing (in isoform 3)"
/evidence="ECO:0000303|PubMed:9430594"
/id="VSP_000985"
VAR_SEQ 394..872
/note="Missing (in isoform 6)"
/evidence="ECO:0000303|PubMed:15489334,
ECO:0000303|PubMed:9039501"
/id="VSP_000987"
VAR_SEQ 417..446
/note="Missing (in isoform 4)"
/evidence="ECO:0000303|PubMed:9836639"
/id="VSP_000989"
VAR_SEQ 417..434
/note="Missing (in isoform 2, isoform 3 and isoform 5)"
/evidence="ECO:0000303|PubMed:11160379,
ECO:0000303|PubMed:9430594, ECO:0000303|PubMed:9827540"
/id="VSP_000988"
VAR_SEQ 509
/note="Missing (in isoform 4)"
/evidence="ECO:0000303|PubMed:9836639"
/id="VSP_000990"
VARIANT 114
/note="T -> A (in BFNS1; dbSNP:rs1057516076)"
/evidence="ECO:0000269|PubMed:25982755"
/id="VAR_078658"
VARIANT 154
/note="Y -> D (in BFNS1; with infantile seizures;
dbSNP:rs1057516078)"
/evidence="ECO:0000269|PubMed:23360469"
/id="VAR_078659"
VARIANT 159
/note="G -> E (in BFNS1; dbSNP:rs1057516081)"
/evidence="ECO:0000269|PubMed:23360469"
/id="VAR_078660"
VARIANT 159
/note="G -> R (in BFNS1; dbSNP:rs1057516080)"
/evidence="ECO:0000269|PubMed:25982755"
/id="VAR_078661"
VARIANT 196
/note="A -> V (in BFNS1; with infantile seizures;
dbSNP:rs118192199)"
/evidence="ECO:0000269|PubMed:23360469"
/id="VAR_078662"
VARIANT 201
/note="R -> C (in DEE7; gain-of-function mutation; results
in loss of voltage-dependent channel gating and highly
increased potassium currents; dbSNP:rs796052623)"
/evidence="ECO:0000269|PubMed:25740509,
ECO:0000269|PubMed:26993267"
/id="VAR_078663"
VARIANT 204..872
/note="Missing (in BFNS1)"
/evidence="ECO:0000269|PubMed:25982755"
/id="VAR_078664"
VARIANT 207
/note="R -> Q (found in a patient with isolated myokymia;
leads to a shift of voltage-dependent activation;
dbSNP:rs118192200)"
/evidence="ECO:0000269|PubMed:17872363"
/id="VAR_043819"
VARIANT 207
/note="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)"
/evidence="ECO:0000269|PubMed:11572947"
/id="VAR_026987"
VARIANT 208
/note="M -> V (in BFNS1; minor effect on maximal current
but clearly exhibits a faster rate of deactivation;
dbSNP:rs118192201)"
/evidence="ECO:0000269|PubMed:14534157"
/id="VAR_026988"
VARIANT 210
/note="R -> C (in DEE7; dbSNP:rs796052626)"
/evidence="ECO:0000269|PubMed:25818041"
/id="VAR_078665"
VARIANT 213
/note="R -> Q (in BFNS1 and DEE7; dbSNP:rs397514581)"
/evidence="ECO:0000269|PubMed:25982755,
ECO:0000269|PubMed:26993267"
/id="VAR_078666"
VARIANT 213
/note="R -> W (in BFNS1; unknown pathological significance;
dbSNP:rs118192203)"
/evidence="ECO:0000269|PubMed:26993267"
/id="VAR_078667"
VARIANT 214
/note="R -> W (in BFNS1; dbSNP:rs28939684)"
/evidence="ECO:0000269|PubMed:11175290"
/id="VAR_010929"
VARIANT 217
/note="T -> A (in BFNS1; also in patients with infantile
seizures; dbSNP:rs1057516089)"
/evidence="ECO:0000269|PubMed:23360469"
/id="VAR_078668"
VARIANT 228
/note="H -> Q (in BFNS1; dbSNP:rs118192204)"
/evidence="ECO:0000269|PubMed:14534157"
/id="VAR_026989"
VARIANT 234
/note="T -> P (in DEE7; dbSNP:rs1057516091)"
/evidence="ECO:0000269|PubMed:25818041"
/id="VAR_078669"
VARIANT 243
/note="L -> F (in BFNS1; dbSNP:rs118192205)"
/evidence="ECO:0000269|PubMed:14534157"
/id="VAR_026990"
VARIANT 247
/note="S -> W (in DEE7; reduces channel currents by more
than 50% in homomeric channels; dbSNP:rs74315392)"
/evidence="ECO:0000269|PubMed:12742592"
/id="VAR_026991"
VARIANT 266
/note="D -> E (in DEE7; patient also manifests dyskinesia;
dbSNP:rs1057519536)"
/evidence="ECO:0000269|PubMed:27864847"
/id="VAR_078207"
VARIANT 268
/note="L -> F (in DEE7; dbSNP:rs1057516094)"
/evidence="ECO:0000269|PubMed:27864847"
/id="VAR_078208"
VARIANT 276
/note="T -> I (in DEE7; dbSNP:rs1057516095)"
/evidence="ECO:0000269|PubMed:24463883"
/id="VAR_078670"
VARIANT 284
/note="Y -> C (in BFNS1; 30%-60% reduction of wt current in
heteromeric channels; dbSNP:rs28939683)"
/evidence="ECO:0000269|PubMed:14534157,
ECO:0000269|PubMed:9425895, ECO:0000269|PubMed:9872318"
/id="VAR_010930"
VARIANT 291
/note="R -> S (in DEE7; dbSNP:rs1057519535)"
/evidence="ECO:0000269|PubMed:27864847"
/id="VAR_078209"
VARIANT 294
/note="A -> V (in DEE7; dbSNP:rs118192211)"
/evidence="ECO:0000269|PubMed:27864847"
/id="VAR_078210"
VARIANT 301
/note="G -> S (in DEE7; dbSNP:rs1057516099)"
/evidence="ECO:0000269|PubMed:27864847"
/id="VAR_078211"
VARIANT 306
/note="A -> T (in BFNS1 and DEE7; 20%-40% reduction of wt
current in heteromeric channels; dbSNP:rs74315390)"
/evidence="ECO:0000269|PubMed:14534157,
ECO:0000269|PubMed:26138355, ECO:0000269|PubMed:9425895,
ECO:0000269|PubMed:9872318"
/id="VAR_010931"
VARIANT 333
/note="R -> Q (in BFNS1; moderate effect; less than 50%
reduction in current compared with wt heteromeric channels;
dbSNP:rs118192216)"
/evidence="ECO:0000269|PubMed:14534157"
/id="VAR_026992"
VARIANT 353
/note="R -> G (in BFNS1; dbSNP:rs118192218)"
/evidence="ECO:0000269|PubMed:25982755"
/id="VAR_078671"
VARIANT 358
/note="S -> F (in BFNS1; dbSNP:rs1057516110)"
/evidence="ECO:0000269|PubMed:25982755"
/id="VAR_078672"
VARIANT 448..872
/note="Missing (in BFNS1; with infantile seizures)"
/evidence="ECO:0000269|PubMed:23360469,
ECO:0000269|PubMed:25982755"
/id="VAR_078673"
VARIANT 547
/note="R -> W (in BFNS1; dbSNP:rs796052650)"
/evidence="ECO:0000269|PubMed:23360469"
/id="VAR_078674"
VARIANT 554
/note="K -> N (in BFNS1 and DEE7; decreases the voltage-
dependence of the channel; dbSNP:rs267607198)"
/evidence="ECO:0000269|PubMed:15249611"
/id="VAR_026993"
VARIANT 561
/note="P -> S (in DEE7)"
/evidence="ECO:0000269|PubMed:26993267"
/id="VAR_078675"
VARIANT 578..579
/note="ML -> IM (in DEE7; dbSNP:rs796052665)"
/evidence="ECO:0000269|PubMed:25818041"
/id="VAR_078676"
VARIANT 578
/note="M -> V (in BFNS1; dbSNP:rs1057516123)"
/evidence="ECO:0000269|PubMed:25982755"
/id="VAR_078677"
VARIANT 581..872
/note="Missing (in BFNS1)"
/evidence="ECO:0000269|PubMed:25982755,
ECO:0000269|PubMed:26993267"
/id="VAR_078678"
VARIANT 581
/note="R -> Q (in DEE7; dbSNP:rs118192235)"
/evidence="ECO:0000269|PubMed:27864847"
/id="VAR_078212"
VARIANT 588
/note="R -> S (in BFNS1; dbSNP:rs118192237)"
/evidence="ECO:0000269|PubMed:25982755"
/id="VAR_078679"
VARIANT 637
/note="L -> R (in BFNS1; dbSNP:rs118192240)"
/evidence="ECO:0000269|PubMed:25982755"
/id="VAR_078680"
VARIANT 777
/note="P -> S (found in a patient with continuous spikes
and waves during sleep; unknown pathological significance;
dbSNP:rs748400155)"
/evidence="ECO:0000269|PubMed:27864847"
/id="VAR_078213"
VARIANT 780
/note="N -> T (in dbSNP:rs1801475)"
/evidence="ECO:0000269|PubMed:10323247"
/id="VAR_010932"
MUTAGEN 52
/note="S->E: 40% increase in potassium current amplitude.
Ratio of 1:1."
/evidence="ECO:0000269|PubMed:9872318"
MUTAGEN 52
/note="S->Q: Decrease of PKA stimulation. Ratio of 1:1."
/evidence="ECO:0000269|PubMed:9872318"
MUTAGEN 217
/note="T->A: No effect on current or expression."
/evidence="ECO:0000269|PubMed:16319223"
MUTAGEN 217
/note="T->D: Abolishes currents without reducing channel
protein expression."
/evidence="ECO:0000269|PubMed:16319223"
MUTAGEN 279
/note="G->S: More than 50% reduction of wt heteromeric
current. Ratio of 1:1 and 1:1:2."
/evidence="ECO:0000269|PubMed:9872318"
CONFLICT 699
/note="K -> E (in Ref. 4; AAD16988)"
/evidence="ECO:0000305"
CONFLICT 854
/note="R -> C (in Ref. 4; AAD16988)"
/evidence="ECO:0000305"
HELIX 71..85
/evidence="ECO:0007829|PDB:7CR0"
HELIX 92..113
/evidence="ECO:0007829|PDB:7CR0"
STRAND 114..116
/evidence="ECO:0007829|PDB:7CR0"
HELIX 119..147
/evidence="ECO:0007829|PDB:7CR0"
STRAND 150..154
/evidence="ECO:0007829|PDB:7CR0"
HELIX 157..164
/evidence="ECO:0007829|PDB:7CR0"
HELIX 167..182
/evidence="ECO:0007829|PDB:7CR0"
HELIX 196..210
/evidence="ECO:0007829|PDB:7CR0"
HELIX 216..227
/evidence="ECO:0007829|PDB:7CR0"
HELIX 229..253
/evidence="ECO:0007829|PDB:7CR0"
STRAND 255..257
/evidence="ECO:0007829|PDB:7CR0"
HELIX 264..275
/evidence="ECO:0007829|PDB:7CR0"
STRAND 281..283
/evidence="ECO:0007829|PDB:7CR0"
HELIX 288..304
/evidence="ECO:0007829|PDB:7CR2"
HELIX 324..333
/evidence="ECO:0007829|PDB:5J03"
STRAND 353..356
/evidence="ECO:0007829|PDB:6FEH"
HELIX 357..367
/evidence="ECO:0007829|PDB:6FEG"
STRAND 368..370
/evidence="ECO:0007829|PDB:6FEG"
HELIX 536..559
/evidence="ECO:0007829|PDB:6FEG"
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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Related Genes :
[KCNQ2] 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] Potassium voltage-gated channel subfamily KQT member 2 (KQT-like 2) (Potassium channel subunit alpha KvLQT2) (Voltage-gated potassium channel subunit Kv7.2)
[KCNQ1 KCNA8 KCNA9 KVLQT1] Potassium voltage-gated channel subfamily KQT member 1 (IKs producing slow voltage-gated potassium channel subunit alpha KvLQT1) (KQT-like 1) (Voltage-gated potassium channel subunit Kv7.1)
[KCNQ3] Potassium voltage-gated channel subfamily KQT member 3 (KQT-like 3) (Potassium channel subunit alpha KvLQT3) (Voltage-gated potassium channel subunit Kv7.3)
[Kcnq3] Potassium voltage-gated channel subfamily KQT member 3 (KQT-like 3) (Potassium channel subunit alpha KvLQT3) (Voltage-gated potassium channel subunit Kv7.3)
[KCNQ5] Potassium voltage-gated channel subfamily KQT member 5 (KQT-like 5) (Potassium channel subunit alpha KvLQT5) (Voltage-gated potassium channel subunit Kv7.5)
[KCNQ4] Potassium voltage-gated channel subfamily KQT member 4 (KQT-like 4) (Potassium channel subunit alpha KvLQT4) (Voltage-gated potassium channel subunit Kv7.4)
[Kcnq3] Potassium voltage-gated channel subfamily KQT member 3 (KQT-like 3) (Potassium channel subunit alpha KvLQT3) (Voltage-gated potassium channel subunit Kv7.3)
[Kcnc1] Potassium voltage-gated channel subfamily C member 1 (NGK2) (Voltage-gated potassium channel subunit Kv3.1) (Voltage-gated potassium channel subunit Kv4)
[Kcnc2] Potassium voltage-gated channel subfamily C member 2 (Potassium channel voltage-gated Shaw-related subfamily C member 2) (Shaw-like potassium channel) (Voltage-gated potassium channel subunit Kv3.2)
[KCNQ3] Potassium voltage-gated channel subfamily KQT member 3 (KQT-like 3) (Potassium channel subunit alpha KvLQT3) (Voltage-gated potassium channel subunit Kv7.3)
[KCNE1] Potassium voltage-gated channel subfamily E member 1 (Delayed rectifier potassium channel subunit IsK) (IKs producing slow voltage-gated potassium channel subunit beta Mink) (Minimal potassium channel)
[KCNA2] Potassium voltage-gated channel subfamily A member 2 (NGK1) (Voltage-gated K(+) channel HuKIV) (Voltage-gated potassium channel HBK5) (Voltage-gated potassium channel subunit Kv1.2)
[KCNE2] Potassium voltage-gated channel subfamily E member 2 (MinK-related peptide 1) (Minimum potassium ion channel-related peptide 1) (Potassium channel subunit beta MiRP1)
[KCNA4 KCNA4L] Potassium voltage-gated channel subfamily A member 4 (HPCN2) (Voltage-gated K(+) channel HuKII) (Voltage-gated potassium channel HBK4) (Voltage-gated potassium channel HK1) (Voltage-gated potassium channel subunit Kv1.4)
[KCNH3 KIAA1282] Potassium voltage-gated channel subfamily H member 3 (Brain-specific eag-like channel 1) (BEC1) (Ether-a-go-go-like potassium channel 2) (ELK channel 2) (ELK2) (Voltage-gated potassium channel subunit Kv12.2)
[Kcnc1] Potassium voltage-gated channel subfamily C member 1 (NGK2) (RAW2) (Voltage-gated potassium channel subunit Kv3.1) (Voltage-gated potassium channel subunit Kv4)
[KCNC1] Potassium voltage-gated channel subfamily C member 1 (NGK2) (Voltage-gated potassium channel subunit Kv3.1) (Voltage-gated potassium channel subunit Kv4)
[KCNA5] Potassium voltage-gated channel subfamily A member 5 (HPCN1) (Voltage-gated potassium channel HK2) (Voltage-gated potassium channel subunit Kv1.5)
[Kcnb1] Potassium voltage-gated channel subfamily B member 1 (Delayed rectifier potassium channel 1) (DRK1) (Voltage-gated potassium channel subunit Kv2.1)
[Kcnh6 Erg2] Potassium voltage-gated channel subfamily H member 6 (Ether-a-go-go-related gene potassium channel 2) (ERG-2) (Eag-related protein 2) (Ether-a-go-go-related protein 2) (Voltage-gated potassium channel subunit Kv11.2)
[KCNH2 ERG ERG1 HERG] Potassium voltage-gated channel subfamily H member 2 (Eag homolog) (Ether-a-go-go-related gene potassium channel 1) (ERG-1) (Eag-related protein 1) (Ether-a-go-go-related protein 1) (H-ERG) (hERG-1) (hERG1) (Voltage-gated potassium channel subunit Kv11.1)
[KCNB1] Potassium voltage-gated channel subfamily B member 1 (Delayed rectifier potassium channel 1) (DRK1) (h-DRK1) (Voltage-gated potassium channel subunit Kv2.1)
[Kcnh2 Erg Merg1] Potassium voltage-gated channel subfamily H member 2 (Ether-a-go-go-related gene potassium channel 1) (ERG-1) (Eag-related protein 1) (Ether-a-go-go-related protein 1) (MERG) (Voltage-gated potassium channel subunit Kv11.1)
[Kcna2] Potassium voltage-gated channel subfamily A member 2 (RAK) (RBK2) (RCK5) (Voltage-gated potassium channel subunit Kv1.2)
[Kcna6] Potassium voltage-gated channel subfamily A member 6 (RCK2) (Voltage-gated potassium channel subunit Kv1.6) (Voltage-gated potassium channel subunit Kv2)
[Kcnd2] Potassium voltage-gated channel subfamily D member 2 (RK5) (Shal1) (Voltage-gated potassium channel subunit Kv4.2)
[Kcna2] Potassium voltage-gated channel subfamily A member 2 (MK2) (Voltage-gated potassium channel subunit Kv1.2)
[Kcnd2 Kiaa1044 MNCb-7013] Potassium voltage-gated channel subfamily D member 2 (Voltage-gated potassium channel subunit Kv4.2)
[KCND2 KIAA1044] Potassium voltage-gated channel subfamily D member 2 (Voltage-gated potassium channel subunit Kv4.2)

Bibliography :