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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)

 KCNH2_HUMAN             Reviewed;        1159 AA.
Q12809; A5H1P7; C4PFH9; D3DX04; O75418; O75680; Q708S9; Q9BT72;
Q9BUT7; Q9H3P0;
30-MAY-2000, integrated into UniProtKB/Swiss-Prot.
01-NOV-1996, sequence version 1.
30-AUG-2017, entry version 199.
RecName: Full=Potassium voltage-gated channel subfamily H member 2;
AltName: Full=Eag homolog;
AltName: Full=Ether-a-go-go-related gene potassium channel 1;
Short=ERG-1;
Short=Eag-related protein 1;
Short=Ether-a-go-go-related protein 1;
Short=H-ERG;
Short=hERG-1;
Short=hERG1;
AltName: Full=Voltage-gated potassium channel subunit Kv11.1;
Name=KCNH2; Synonyms=ERG, ERG1, HERG;
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 A).
TISSUE=Hippocampus;
PubMed=8159766; DOI=10.1073/pnas.91.8.3438;
Warmke J.W., Ganetzky B.;
"A family of potassium channel genes related to eag in Drosophila and
mammals.";
Proc. Natl. Acad. Sci. U.S.A. 91:3438-3442(1994).
[2]
NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM A), AND VARIANT LQT2
CYS-534.
PubMed=9600240; DOI=10.1007/s004390050717;
Itoh T., Tanaka T., Nagai R., Kamiya T., Sawayama T., Nakayama T.,
Tomoike H., Sakurada H., Yazaki Y., Nakamura Y.;
"Genomic organization and mutational analysis of HERG, a gene
responsible for familial long QT syndrome.";
Hum. Genet. 102:435-439(1998).
[3]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM A-USO).
TISSUE=Heart;
PubMed=11374908; DOI=10.1006/geno.2001.6527;
Soejima H., Kawamoto S., Akai J., Miyoshi O., Arai Y., Morohka T.,
Matsuo S., Niikawa N., Kimura A., Okubo K., Mukai T.;
"Isolation of novel heart-specific genes using the BodyMap database.";
Genomics 74:115-120(2001).
[4]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM A).
Downie D., Chapman C.G., Punia P., Rice S., Bahmani F., Murdock P.,
Pearson N., Randall A.D., Meadows H.J.;
"Potent inhibition of HERG K+ channels by the neuroprotective agent
Sipatrigine.";
Submitted (MAR-2001) to the EMBL/GenBank/DDBJ databases.
[5]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM B).
PubMed=12431979; DOI=10.1074/jbc.M210789200;
Crociani O., Guasti L., Balzi M., Becchetti A., Wanke E., Olivotto M.,
Wymore R.S., Arcangeli A.;
"Cell cycle-dependent expression of HERG1 and HERG1B isoforms in tumor
cells.";
J. Biol. Chem. 278:2947-2955(2003).
[6]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM B-USO), FUNCTION, SUBCELLULAR
LOCATION, AND TISSUE SPECIFICITY.
PubMed=18559421; DOI=10.1128/MCB.00304-08;
Guasti L., Crociani O., Redaelli E., Pillozzi S., Polvani S.,
Masselli M., Mello T., Galli A., Amedei A., Wymore R.S., Wanke E.,
Arcangeli A.;
"Identification of a posttranslational mechanism for the regulation of
hERG1 K+ channel expression and hERG1 current density in tumor
cells.";
Mol. Cell. Biol. 28:5043-5060(2008).
[7]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3.1), AND SUBCELLULAR LOCATION.
TISSUE=Brain;
PubMed=19412172; DOI=10.1038/nm.1962;
Huffaker S.J., Chen J., Nicodemus K.K., Sambataro F., Yang F.,
Mattay V., Lipska B.K., Hyde T.M., Song J., Rujescu D., Giegling I.,
Mayilyan K., Proust M.J., Soghoyan A., Caforio G., Callicott J.H.,
Bertolino A., Meyer-Lindenberg A., Chang J., Ji Y., Egan M.F.,
Goldberg T.E., Kleinman J.E., Lu B., Weinberger D.R.;
"A primate-specific, brain isoform of KCNH2 affects cortical
physiology, cognition, neuronal repolarization and risk of
schizophrenia.";
Nat. Medicines 15:509-518(2009).
[8]
NUCLEOTIDE SEQUENCE [GENOMIC DNA].
NHLBI resequencing and genotyping service (RS&G);
Submitted (JUN-2006) to the EMBL/GenBank/DDBJ databases.
[9]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
PubMed=12853948; DOI=10.1038/nature01782;
Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H.,
Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R.,
Wylie K., Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E.,
Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Cordes M., Du H.,
Sun H., Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A.,
Vanbrunt A., Nguyen C., Du F., Lamar B., Courtney L., Kalicki J.,
Ozersky P., Bielicki L., Scott K., Holmes A., Harkins R., Harris A.,
Strong C.M., Hou S., Tomlinson C., Dauphin-Kohlberg S.,
Kozlowicz-Reilly A., Leonard S., Rohlfing T., Rock S.M.,
Tin-Wollam A.-M., Abbott A., Minx P., Maupin R., Strowmatt C.,
Latreille P., Miller N., Johnson D., Murray J., Woessner J.P.,
Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W., Spieth J.,
Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E., Cook L.L.,
Hickenbotham M.T., Eldred J., Williams D., Bedell J.A., Mardis E.R.,
Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E.,
Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K.,
Simms E., Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S.,
Baertsch R.A., Brent M.R., Keibler E., Flicek P., Bork P., Suyama M.,
Bailey J.A., Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R.,
Eddy S.R., McPherson J.D., Olson M.V., Eichler E.E., Green E.D.,
Waterston R.H., Wilson R.K.;
"The DNA sequence of human chromosome 7.";
Nature 424:157-164(2003).
[10]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L.,
Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R.,
Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V.,
Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R.,
Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H.,
Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G.,
Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W.,
Venter J.C.;
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
[11]
NUCLEOTIDE SEQUENCE [MRNA] OF 1-376 (ISOFORM B).
TISSUE=Heart;
PubMed=9351462; DOI=10.1161/01.RES.81.5.870;
London B., Trudeau M.C., Newton K.P., Beyer A.K., Copeland N.G.,
Gilbert D.J., Jenkins N.A., Satler C.A., Robertson G.A.;
"Two isoforms of the mouse ether-a-go-go-related gene coassemble to
form channels with properties similar to the rapidly activating
component of the cardiac delayed rectifier K+ current.";
Circ. Res. 81:870-878(1997).
[12]
NUCLEOTIDE SEQUENCE [MRNA] OF 1-376 (ISOFORM B).
TISSUE=Heart atrium;
PubMed=9351446; DOI=10.1161/01.RES.81.5.719;
Lees-Miller J.P., Kondo C., Wang L., Duff H.J.;
"Electrophysiological characterization of an alternatively processed
ERG K+ channel in mouse and human hearts.";
Circ. Res. 81:719-726(1997).
[13]
NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 27-1159 (ISOFORM A), AND VARIANT
GLY-ALA-GLY-189 INS.
PubMed=10790218;
DOI=10.1002/(SICI)1098-1004(200005)15:5<483::AID-HUMU18>3.3.CO;2-K;
Paulussen A., Yang P., Pangalos M., Verhasselt P., Marrannes R.,
Verfaille C., Vandenberk I., Crabbe R., Konings F., Luyten W.,
Armstrong M.;
"Analysis of the human KCNH2(HERG) gene: identification and
characterization of a novel mutation Y667X associated with long QT
syndrome and a non-pathological 9 bp insertion.";
Hum. Mutat. 15:483-483(2000).
[14]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 59-800 (ISOFORM 4), AND
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 716-1159 (ISOFORMS A/B).
TISSUE=Brain;
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).
[15]
NUCLEOTIDE SEQUENCE [MRNA] OF 795-888 (ISOFORM A-USO).
TISSUE=Heart ventricle;
PubMed=9765245; DOI=10.1074/jbc.273.42.27231;
Kupershmidt S., Snyders D.J., Raes A., Roden D.M.;
"A K+ channel splice variant common in human heart lacks a C-terminal
domain required for expression of rapidly activating delayed rectifier
current.";
J. Biol. Chem. 273:27231-27235(1998).
[16]
MUTAGENESIS OF ASN-598; ASN-629 AND SER-631, AND GLYCOSYLATION AT
ASN-598.
PubMed=12063277; DOI=10.1152/ajpheart.00008.2002;
Gong Q., Anderson C.L., January C.T., Zhou Z.;
"Role of glycosylation in cell surface expression and stability of
HERG potassium channels.";
Am. J. Physiol. 283:H77-H84(2002).
[17]
MUTAGENESIS OF SER-283; SER-890; THR-895 AND SER-1137, AND
PHOSPHORYLATION.
PubMed=10837251; DOI=10.1016/S0960-9822(00)00516-9;
Cui J., Melman Y., Palma E., Fishman G.I., McDonald T.V.;
"Cyclic AMP regulates the HERG K(+) channel by dual pathways.";
Curr. Biol. 10:671-674(2000).
[18]
INTERACTION WITH KCNE1.
PubMed=9230439; DOI=10.1038/40882;
McDonald T.V., Yu Z., Ming Z., Palma E., Meyers M.B., Wang K.-W.,
Goldstein S.A.N., Fishman G.I.;
"A minK-HERG complex regulates the cardiac potassium current I(Kr).";
Nature 388:289-292(1997).
[19]
INTERACTION WITH KCNE2.
PubMed=10219239; DOI=10.1016/S0092-8674(00)80728-X;
Abbott G.W., Sesti F., Splawski I., Buck M.E., Lehmann M.H.,
Timothy K.W., Keating M.T., Goldstein S.A.N.;
"MiRP1 forms IKr potassium channels with HERG and is associated with
cardiac arrhythmia.";
Cell 97:175-187(1999).
[20]
INTERACTION WITH CANX, AND CHARACTERIZATION OF VARIANT LQT2 ASP-470.
PubMed=16361248; DOI=10.1074/jbc.M511765200;
Gong Q., Jones M.A., Zhou Z.;
"Mechanisms of pharmacological rescue of trafficking-defective hERG
mutant channels in human long QT syndrome.";
J. Biol. Chem. 281:4069-4074(2006).
[21]
PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-320, AND IDENTIFICATION
BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
TISSUE=Leukemic T-cell;
PubMed=19690332; DOI=10.1126/scisignal.2000007;
Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K.,
Rodionov V., Han D.K.;
"Quantitative phosphoproteomic analysis of T cell receptor signaling
reveals system-wide modulation of protein-protein interactions.";
Sci. Signal. 2:RA46-RA46(2009).
[22]
PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-239; SER-320; SER-871
AND SER-1137, AND IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE
ANALYSIS].
TISSUE=Erythroleukemia;
PubMed=23186163; DOI=10.1021/pr300630k;
Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J.,
Mohammed S.;
"Toward a comprehensive characterization of a human cancer cell
phosphoproteome.";
J. Proteome Res. 12:260-271(2013).
[23]
INTERACTION WITH RNF207, AND INDUCTION BY RNF207.
PubMed=25281747; DOI=10.1074/jbc.M114.592295;
Roder K., Werdich A.A., Li W., Liu M., Kim T.Y., Organ-Darling L.E.,
Moshal K.S., Hwang J.M., Lu Y., Choi B.R., MacRae C.A., Koren G.;
"RING finger protein RNF207, a novel regulator of cardiac
excitation.";
J. Biol. Chem. 289:33730-33740(2014).
[24]
FUNCTION, INTERACTION WITH NDFIP1 AND NDFIP2, AND SUBCELLULAR
LOCATION.
PubMed=26363003; DOI=10.1042/BJ20141282;
Kang Y., Guo J., Yang T., Li W., Zhang S.;
"Regulation of the human ether-a-go-go-related gene (hERG) potassium
channel by Nedd4 family interacting proteins (Ndfips).";
Biochem. J. 472:71-82(2015).
[25]
FUNCTION, SUBUNIT, INTERACTION WITH DNAJB12 AND DNAJB14, VARIANT LQT2
TYR-64, AND CHARACTERIZATION OF VARIANTS LQT2 TYR-64 AND PRO-65.
PubMed=27916661; DOI=10.1016/j.molcel.2016.10.027;
Li K., Jiang Q., Bai X., Yang Y.F., Ruan M.Y., Cai S.Q.;
"Tetrameric assembly of K(+) channels requires ER-located chaperone
proteins.";
Mol. Cell 65:52-65(2017).
[26]
X-RAY CRYSTALLOGRAPHY (2.6 ANGSTROMS) OF 1-135, AND MUTAGENESIS OF
PHE-29 AND TYR-43.
PubMed=9845367; DOI=10.1016/S0092-8674(00)81635-9;
Morais Cabral J.H., Lee A., Cohen S.L., Chait B.T., Li M.,
Mackinnon R.;
"Crystal structure and functional analysis of the HERG potassium
channel N-terminus: a eukaryotic PAS domain.";
Cell 95:649-655(1998).
[27]
VARIANTS LQT2 ASP-470; VAL-561 AND SER-628.
PubMed=7889573; DOI=10.1016/0092-8674(95)90358-5;
Curran M.E., Splawski I., Timothy K.W., Vincent G.M., Green E.D.,
Keating M.T.;
"A molecular basis for cardiac arrhythmia: HERG mutations cause long
QT syndrome.";
Cell 80:795-803(1995).
[28]
VARIANT LQT2 MET-822.
PubMed=8914737;
DOI=10.1002/(SICI)1096-8628(19961002)65:1<27::AID-AJMG4>3.3.CO;2-J;
Satler C.A., Walsh E.P., Vesely M.R., Plummer M.H., Ginsburg G.S.,
Jacob H.J.;
"Novel missense mutation in the cyclic nucleotide-binding domain of
HERG causes long QT syndrome.";
Am. J. Med. Genet. 65:27-35(1996).
[29]
VARIANT LQT2 ARG-593.
PubMed=8635257; DOI=10.1161/01.CIR.93.10.1791;
Benson D.W., MacRae C.A., Vesely M.R., Walsh E.P., Seidman J.G.,
Seidman C.E., Satler C.A.;
"Missense mutation in the pore region of HERG causes familial long QT
syndrome.";
Circulation 93:1791-1795(1996).
[30]
VARIANT LQT2 THR-561.
PubMed=8877771; DOI=10.1006/jmcc.1996.0151;
Dausse E., Berthet M., Denjoy I., Andre-Fouet X., Cruaud C.,
Bennaceur M., Faure S., Coumel P., Schwartz K., Guicheney P.;
"A mutation in HERG associated with notched T waves in long QT
syndrome.";
J. Mol. Cell. Cardiol. 28:1609-1615(1996).
[31]
VARIANTS LQT2 ILE-474; HIS-611; VAL-614 AND LEU-630.
PubMed=9024139; DOI=10.1161/01.CIR.95.3.565;
Tanaka T., Nagai R., Tomoike H., Takata S., Yano K., Yabuta K.,
Haneda N., Nakano O., Shibata A., Sawayama T., Kasai H., Yazaki Y.,
Nakamura Y.;
"Four novel KVLQT1 and four novel HERG mutations in familial long-QT
syndrome.";
Circulation 95:565-567(1997).
[32]
VARIANTS LQT2 CYS-572; ASP-588; VAL-614 AND ALA-630.
PubMed=9693036; DOI=10.1006/geno.1998.5361;
Splawski I., Shen J., Timothy K.W., Vincent G.M., Lehmann M.H.,
Keating M.T.;
"Genomic structure of three long QT syndrome genes: KVLQT1, HERG, and
KCNE1.";
Genomics 51:86-97(1998).
[33]
VARIANTS LQT2 LEU-612; VAL-614; ASP-629; SER-629 AND SER-633.
PubMed=9544837; DOI=10.1007/s004390050690;
Satler C.A., Vesely M.R., Duggal P., Ginsburg G.S., Beggs A.H.;
"Multiple different missense mutations in the pore region of HERG in
patients with long QT syndrome.";
Hum. Genet. 102:265-272(1998).
[34]
VARIANT LQT2 SER-601.
PubMed=9452080;
Akimoto K., Furutani M., Imamura S., Furutani Y., Kasanuki H.,
Takao A., Momma K., Matsuoka R.;
"Novel missense mutation (G601S) of HERG in a Japanese long QT
syndrome family.";
Hum. Mutat. Suppl. 1:S184-S186(1998).
[35]
VARIANT LQT2 LEU-818.
PubMed=10086971; DOI=10.1161/01.CIR.99.11.1464;
Berthet M., Denjoy I., Donger C., Demay L., Hammoude H., Klug D.,
Schulze-Bahr E., Richard P., Funke H., Schwartz K., Coumel P.,
Hainque B., Guicheney P.;
"C-terminal HERG mutations: the role of hypokalemia and a KCNQ1-
associated mutation in cardiac event occurrence.";
Circulation 99:1464-1470(1999).
[36]
VARIANTS LQT2 PRO-558; CYS-582; SER-604; MET-613 AND LEU-640.
PubMed=10220144;
DOI=10.1002/(SICI)1098-1004(1999)13:4<301::AID-HUMU7>3.0.CO;2-V;
Jongbloed R.J.E., Wilde A.A.M., Geelen J.L.M.C., Doevendans P.,
Schaap C., van Langen I., van Tintelen J.P., Cobben J.M.,
Beaufort-Krol G.C.M., Geraedts J.P.M., Smeets H.J.M.;
"Novel KCNQ1 and HERG missense mutations in Dutch long-QT families.";
Hum. Mutat. 13:301-310(1999).
[37]
VARIANTS LQT2 LEU-29; THR-33; ARG-53; GLN-56; GLY-66; ARG-70; PRO-78
AND ARG-86.
PubMed=10187793; DOI=10.1074/jbc.274.15.10113;
Chen J., Zou A., Splawski I., Keating M.T., Sanguinetti M.C.;
"Long QT syndrome-associated mutations in the Per-Arnt-Sim (PAS)
domain of HERG potassium channels accelerate channel deactivation.";
J. Biol. Chem. 274:10113-10118(1999).
[38]
VARIANT LQT2 LYS-629.
PubMed=10517660; DOI=10.1111/j.1540-8167.1999.tb00304.x;
Yoshida H., Horie M., Otani H., Takano M., Tsuji K., Kubota T.,
Fukunami M., Sasayama S.;
"Characterization of a novel missense mutation in the pore of HERG in
a patient with long QT syndrome.";
J. Cardiovasc. Electrophysiol. 10:1262-1270(1999).
[39]
VARIANT LQT2 ARG-572.
PubMed=10735633; DOI=10.1034/j.1399-0004.2000.570206.x;
Larsen L.A., Svendsen I.H., Jensen A.M., Kanters J.K., Andersen P.S.,
Moeller M., Soerensen S.A., Sandoee E., Jacobsen J.R., Vuust J.,
Christiansen M.;
"Long QT syndrome with a high mortality rate caused by a novel G572R
missense mutation in KCNH2.";
Clin. Genet. 57:125-130(2000).
[40]
VARIANTS LQT2, AND REVIEW ON VARIANTS.
PubMed=10973849; DOI=10.1161/01.CIR.102.10.1178;
Splawski I., Shen J., Timothy K.W., Lehmann M.H., Priori S.G.,
Robinson J.L., Moss A.J., Schwartz P.J., Towbin J.A., Vincent G.M.,
Keating M.T.;
"Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A,
KCNE1, and KCNE2.";
Circulation 102:1178-1185(2000).
[41]
VARIANTS LQT2 TRP-176; LEU-451; HIS-569; SER-584; SER-601 AND MET-613,
AND VARIANT THR-897.
PubMed=10862094;
DOI=10.1002/1098-1004(200006)15:6<580::AID-HUMU16>3.3.CO;2-S;
Laitinen P., Fodstad H., Piippo K., Swan H., Toivonen L.,
Viitasalo M., Kaprio J., Kontula K.;
"Survey of the coding region of the HERG gene in long QT syndrome
reveals six novel mutations and an amino acid polymorphism with
possible phenotypic effects.";
Hum. Mutat. 15:580-581(2000).
[42]
CHARACTERIZATION OF VARIANT LQT2 VAL-561.
PubMed=10753933; DOI=10.1074/jbc.275.15.11241;
Kagan A., Yu Z., Fishman G.I., McDonald T.V.;
"The dominant negative LQT2 mutation A561V reduces wild-type HERG
expression.";
J. Biol. Chem. 275:11241-11248(2000).
[43]
VARIANT LQT2 THR-490.
PubMed=11170080;
DOI=10.1002/1096-8628(20010201)98:4<348::AID-AJMG1109>3.0.CO;2-A;
Yoshida H., Horie M., Otani H., Kawashima T., Onishi Y., Sasayama S.;
"Bradycardia-induced long QT syndrome caused by a de novo missense
mutation in the S2-S3 inner loop of HERG.";
Am. J. Med. Genet. 98:348-352(2001).
[44]
VARIANT LQT2 LYS-637.
PubMed=12062363; DOI=10.1016/S0008-6363(02)00240-7;
Hayashi K., Shimizu M., Ino H., Yamaguchi M., Mabuchi H., Hoshi N.,
Higashida H.;
"Characterization of a novel missense mutation E637K in the pore-S6
loop of HERG in a patient with long QT syndrome.";
Cardiovasc. Res. 54:67-76(2002).
[45]
VARIANTS TRP-784 AND THR-897, AND CHARACTERIZATION OF VARIANT TRP-784.
PubMed=11997281; DOI=10.1161/01.CIR.0000014448.19052.4C;
Yang P., Kanki H., Drolet B., Yang T., Wei J., Viswanathan P.C.,
Hohnloser S.H., Shimizu W., Schwartz P.J., Stanton M., Murray K.T.,
Norris K., George A.L. Jr., Roden D.M.;
"Allelic variants in long-QT disease genes in patients with drug-
associated torsades de pointes.";
Circulation 105:1943-1948(2002).
[46]
VARIANTS LQT2 PRO-413; ASP-444 AND HIS-559.
PubMed=12442276; DOI=10.1002/humu.9085;
Liu W., Yang J., Hu D., Kang C., Li C., Zhang S., Li P., Chen Z.,
Qin X., Ying K., Li Y., Li Y., Li Z., Cheng X., Li L., Qi Y., Chen S.,
Wang Q.;
"KCNQ1 and KCNH2 mutations associated with long QT syndrome in a
Chinese population.";
Hum. Mutat. 20:475-476(2002).
[47]
VARIANT LQT2 PRO-65.
PubMed=12354768; DOI=10.1074/jbc.M206569200;
Paulussen A., Raes A., Matthijs G., Snyders D.J., Cohen N.,
Aerssens J.;
"A novel mutation (T65P) in the PAS domain of the human potassium
channel HERG results in the long QT syndrome by trafficking
deficiency.";
J. Biol. Chem. 277:48610-48616(2002).
[48]
VARIANT LQT2 GLN-752.
PubMed=12621127; DOI=10.1203/01.PDR.0000059750.17002.B6;
Johnson W.H. Jr., Yang P., Yang T., Lau Y.R., Mostella B.A.,
Wolff D.J., Roden D.M., Benson D.W.;
"Clinical, genetic, and biophysical characterization of a homozygous
HERG mutation causing severe neonatal long QT syndrome.";
Pediatr. Res. 53:744-748(2003).
[49]
VARIANT SQT1 LYS-588.
PubMed=14676148; DOI=10.1161/01.CIR.0000109482.92774.3A;
Brugada R., Hong K., Dumaine R., Cordeiro J., Gaita F., Borggrefe M.,
Menendez T.M., Brugada J., Pollevick G.D., Wolpert C., Burashnikov E.,
Matsuo K., Wu Y.S., Guerchicoff A., Bianchi F., Giustetto C.,
Schimpf R., Brugada P., Antzelevitch C.;
"Sudden death associated with short-QT syndrome linked to mutations in
HERG.";
Circulation 109:30-35(2004).
[50]
VARIANT LQT2 ILE-861.
PubMed=15051636; DOI=10.1161/01.CIR.0000125524.34234.13;
Westenskow P., Splawski I., Timothy K.W., Keating M.T.,
Sanguinetti M.C.;
"Compound mutations: a common cause of severe long-QT syndrome.";
Circulation 109:1834-1841(2004).
[51]
VARIANTS LQT2 ILE-26; LEU-29; SER-31; ARG-53; LEU-55; PRO-65; ARG-70;
PRO-78; VAL-85; GLN-100; SER-238; TRP-306; LEU-320; CYS-328; CYS-420;
MET-421; THR-422; SER-427; TYR-456; TYR-475 DEL; CYS-534; SER-552;
THR-561; VAL-561; PRO-562; LEU-571; SER-572; CYS-582; SER-584;
ASP-588; ARG-596; SER-604; MET-613; VAL-614; PHE-622; ILE-623;
SER-628; VAL-628; ALA-630; SER-633; ILE-635; VAL-640; PHE-641;
671-ALA--THR-675 DEL; LEU-721; TYR-774; TRP-784; ASP-788; CYS-805;
ARG-820; MET-822; GLY-837; HIS-887; VAL-913; ARG-925; ILE-983; ILE-996
AND ASP-1036.
PubMed=15840476; DOI=10.1016/j.hrthm.2005.01.020;
Tester D.J., Will M.L., Haglund C.M., Ackerman M.J.;
"Compendium of cardiac channel mutations in 541 consecutive unrelated
patients referred for long QT syndrome genetic testing.";
Heart Rhythm 2:507-517(2005).
[52]
VARIANTS LQT2 CYS-43; TYR-49; ALA-58; ASP-58; GLY-58; LEU-68; ARG-71;
MET-74; SER-251; SER-410; HIS-426; HIS-427; LEU-428; TYR-460; HIS-501;
LEU-534; SER-566; ARG-568; VAL-571; ASP-572; LEU-582; HIS-609;
PHE-615; ARG-621; ALA-626; ASP-637; PHE-644; CYS-656; LEU-660;
PRO-696; TRP-800; PRO-818; HIS-861; LEU-968 AND TYR-1153.
PubMed=16414944; DOI=10.1001/jama.294.23.2975;
Napolitano C., Priori S.G., Schwartz P.J., Bloise R., Ronchetti E.,
Nastoli J., Bottelli G., Cerrone M., Leonardi S.;
"Genetic testing in the long QT syndrome: development and validation
of an efficient approach to genotyping in clinical practice.";
JAMA 294:2975-2980(2005).
[53]
VARIANT SQT1 LYS-588.
PubMed=15828882; DOI=10.1046/j.1540-8167.2005.40621.x;
Hong K., Bjerregaard P., Gussak I., Brugada R.;
"Short QT syndrome and atrial fibrillation caused by mutation in
KCNH2.";
J. Cardiovasc. Electrophysiol. 16:394-396(2005).
[54]
VARIANTS LQT2 GLY-100; HIS-427; ASN-525; PRO-528; CYS-696 AND CYS-948.
PubMed=16922724; DOI=10.1111/j.1399-0004.2006.00671.x;
Millat G., Chevalier P., Restier-Miron L., Da Costa A., Bouvagnet P.,
Kugener B., Fayol L., Gonzalez Armengod C., Oddou B., Chanavat V.,
Froidefond E., Perraudin R., Rousson R., Rodriguez-Lafrasse C.;
"Spectrum of pathogenic mutations and associated polymorphisms in a
cohort of 44 unrelated patients with long QT syndrome.";
Clin. Genet. 70:214-227(2006).
[55]
VARIANTS LQT2 ALA-16; GLY-20; LEU-29; THR-30; THR-32; PHE-41; TYR-45;
ASP-53; HIS-54; PRO-57; TRP-64; ARG-70; ASN-70; 72-PRO--ALA-80 DELINS
ARG-PRO-VAL; GLN-72; LEU-72; ARG-74; MET-74; PRO-74; VAL-85; PRO-86;
GLY-94; GLN-100; TRP-100; ALA-102; TYR-106; ARG-108; SER-114; CYS-125;
LEU-141; ALA-149; HIS-164; VAL-218; GLY-242; ASN-259; ASP-277;
THR-291; LEU-301; CYS-312; SER-314; ASN-323; CYS-328; ARG-402;
MET-421; CYS-427; LEU-431; LEU-440; LEU-451; TYR-466; ASN-473;
CYS-475; ILE-476; THR-490; CYS-493; SER-493; ASN-501; TRP-531;
CYS-534; LEU-534; SER-552; GLU-558; THR-561; VAL-561; ARG-562;
THR-565; ASP-572; SER-572; VAL-572; CYS-582; ARG-584; SER-584;
CYS-585; LYS-593; ASP-594; HIS-596; LEU-596; CYS-597; ARG-599;
CYS-601; SER-601; SER-604; LEU-605; SER-605; GLY-609; MET-613;
VAL-614; CYS-616; ASP-626; SER-628; ILE-629; SER-629; ILE-634;
ASP-635; LYS-635; ASP-637; ASN-638; LYS-638 DEL; LEU-644; PHE-644;
ILE-645; SER-648; ARG-657; LEU-660; THR-662; PRO-678; TYR-687;
PRO-693; VAL-711; PHE-728; VAL-749; ASN-757; TYR-767; ALA-770;
TYR-774; LYS-788; 791-ARG--LEU-799 DEL; TRP-791; GLU-806; MET-822;
TRP-823; TYR-837; SER-846; CYS-885; CYS-894; LEU-894; ARG-903;
LEU-906; VAL-913; GLN-920; TRP-920; GLN-922; ALA-924; GLU-924;
ASN-937; GLN-1005; HIS-1007; TRP-1033; MET-1038; PRO-1049; VAL-1066;
CYS-1078; LEU-1093 AND VAL-1115.
PubMed=19716085; DOI=10.1016/j.hrthm.2009.05.021;
Kapplinger J.D., Tester D.J., Salisbury B.A., Carr J.L.,
Harris-Kerr C., Pollevick G.D., Wilde A.A., Ackerman M.J.;
"Spectrum and prevalence of mutations from the first 2,500 consecutive
unrelated patients referred for the FAMILION long QT syndrome genetic
test.";
Heart Rhythm 6:1297-1303(2009).
[56]
VARIANT LQT2 PRO-744, AND CHARACTERIZATION OF VARIANT LQT2 PRO-744.
PubMed=22314138; DOI=10.1016/j.bbrc.2012.01.118;
Aidery P., Kisselbach J., Gaspar H., Baldea I., Schweizer P.A.,
Becker R., Katus H.A., Thomas D.;
"Identification and functional characterization of the novel human
ether-a-go-go-related gene (hERG) R744P mutant associated with
hereditary long QT syndrome 2.";
Biochem. Biophys. Res. Commun. 418:830-835(2012).
-!- FUNCTION: Pore-forming (alpha) subunit of voltage-gated inwardly
rectifying potassium channel. Channel properties are modulated by
cAMP and subunit assembly. Mediates the rapidly activating
component of the delayed rectifying potassium current in heart
(IKr) (PubMed:18559421, PubMed:26363003, PubMed:27916661).
{ECO:0000269|PubMed:18559421, ECO:0000269|PubMed:26363003,
ECO:0000269|PubMed:27916661}.
-!- FUNCTION: Isoform A-USO: Has no channel activity by itself, but
modulates channel characteristics by forming heterotetramers with
other isoforms which are retained intracellularly and undergo
ubiquitin-dependent degradation. {ECO:0000269|PubMed:18559421}.
-!- FUNCTION: Isoform B-USO: Has no channel activity by itself, but
modulates channel characteristics by forming heterotetramers with
other isoforms which are retained intracellularly and undergo
ubiquitin-dependent degradation. {ECO:0000269|PubMed:18559421}.
-!- SUBUNIT: The potassium channel is probably composed of a homo- or
heterotetrameric complex of pore-forming alpha subunits that can
associate with modulating beta subunits (PubMed:27916661).
Interacts with DNAJB12 and DNAJB14; chaperones DNAJB12 and DNAJB14
promote tetramerization (PubMed:27916661). Heteromultimer with
KCNH6/ERG2 and KCNH7/ERG3 (By similarity). Interacts with ALG10B
(By similarity). Heteromultimer with KCNE1 and KCNE2
(PubMed:9230439, PubMed:10219239). Interacts with CANX
(PubMed:16361248). The core-glycosylated, but not the fully
glycosylated form interacts with RNF207 (PubMed:25281747).
Interacts with NDFIP1 and NDFIP2 (PubMed:26363003).
{ECO:0000250|UniProtKB:O08962, ECO:0000269|PubMed:10219239,
ECO:0000269|PubMed:16361248, ECO:0000269|PubMed:25281747,
ECO:0000269|PubMed:26363003, ECO:0000269|PubMed:27916661,
ECO:0000269|PubMed:9230439}.
-!- INTERACTION:
Self; NbExp=6; IntAct=EBI-720643, EBI-720643;
Q03135:CAV1; NbExp=5; IntAct=EBI-720643, EBI-603614;
-!- SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:18559421,
ECO:0000269|PubMed:19412172, ECO:0000269|PubMed:26363003}; Multi-
pass membrane protein {ECO:0000269|PubMed:18559421,
ECO:0000269|PubMed:19412172}.
-!- ALTERNATIVE PRODUCTS:
Event=Alternative splicing; Named isoforms=6;
Comment=Experimental confirmation may be lacking for some
isoforms.;
Name=A;
IsoId=Q12809-1; Sequence=Displayed;
Name=B;
IsoId=Q12809-2; Sequence=VSP_000965;
Name=4;
IsoId=Q12809-4; Sequence=VSP_000966;
Note=No experimental confirmation available.;
Name=A-USO;
IsoId=Q12809-5; Sequence=VSP_047880, VSP_047881;
Note=Twice more abundant than isoform 1 in heart.;
Name=B-USO;
IsoId=Q12809-6; Sequence=VSP_047878, VSP_047879, VSP_047880,
VSP_047881;
Name=3.1;
IsoId=Q12809-7; Sequence=VSP_047877;
Note=Primate-specific. Lacks a domain that is crucial for slow
channel deactivation.;
-!- TISSUE SPECIFICITY: Highly expressed in heart and brain. Isoforms
USO are frequently overexpressed in cancer cells.
{ECO:0000269|PubMed:18559421}.
-!- INDUCTION: Up-regulated by RNF207 (at protein level).
{ECO:0000269|PubMed:25281747}.
-!- DOMAIN: The segment S4 is probably the voltage-sensor and is
characterized by a series of positively charged amino acids at
every third position.
-!- PTM: Phosphorylated on serine and threonine residues.
Phosphorylation by PKA inhibits ion conduction.
{ECO:0000269|PubMed:10837251}.
-!- DISEASE: Long QT syndrome 2 (LQT2) [MIM:613688]: A heart disorder
characterized by a prolonged QT interval on the ECG and
polymorphic ventricular arrhythmias. They cause syncope and sudden
death in response to exercise or emotional stress, and can present
with a sentinel event of sudden cardiac death in infancy. Deafness
is often associated with long QT syndrome type 2.
{ECO:0000269|PubMed:10086971, ECO:0000269|PubMed:10187793,
ECO:0000269|PubMed:10220144, ECO:0000269|PubMed:10517660,
ECO:0000269|PubMed:10735633, ECO:0000269|PubMed:10753933,
ECO:0000269|PubMed:10862094, ECO:0000269|PubMed:10973849,
ECO:0000269|PubMed:11170080, ECO:0000269|PubMed:12062363,
ECO:0000269|PubMed:12354768, ECO:0000269|PubMed:12442276,
ECO:0000269|PubMed:12621127, ECO:0000269|PubMed:15051636,
ECO:0000269|PubMed:15840476, ECO:0000269|PubMed:16361248,
ECO:0000269|PubMed:16414944, ECO:0000269|PubMed:16922724,
ECO:0000269|PubMed:19716085, ECO:0000269|PubMed:22314138,
ECO:0000269|PubMed:27916661, ECO:0000269|PubMed:7889573,
ECO:0000269|PubMed:8635257, ECO:0000269|PubMed:8877771,
ECO:0000269|PubMed:8914737, ECO:0000269|PubMed:9024139,
ECO:0000269|PubMed:9452080, ECO:0000269|PubMed:9544837,
ECO:0000269|PubMed:9600240, ECO:0000269|PubMed:9693036}. Note=The
disease is caused by mutations affecting the gene represented in
this entry.
-!- DISEASE: Short QT syndrome 1 (SQT1) [MIM:609620]: A heart disorder
characterized by idiopathic persistently and uniformly short QT
interval on ECG in the absence of structural heart disease in
affected individuals. It causes syncope and sudden death.
{ECO:0000269|PubMed:14676148, ECO:0000269|PubMed:15828882}.
Note=The disease is caused by mutations affecting the gene
represented in this entry.
-!- SIMILARITY: Belongs to the potassium channel family. H (Eag) (TC
1.A.1.20) subfamily. Kv11.1/KCNH2 sub-subfamily. {ECO:0000305}.
-!- SEQUENCE CAUTION:
Sequence=CAA09232.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
-!- WEB RESOURCE: Name=Wikipedia; Note=Ether-a-go-go potassium
channels entry;
URL="https://en.wikipedia.org/wiki/Ether-a-go-go_potassium_channels";
-----------------------------------------------------------------------
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EMBL; U04270; AAA62473.1; -; mRNA.
EMBL; AB009071; BAA37096.1; -; Genomic_DNA.
EMBL; AB044806; BAB19682.1; -; mRNA.
EMBL; AF363636; AAL37559.1; -; mRNA.
EMBL; AJ512214; CAD54447.1; -; mRNA.
EMBL; AJ609614; CAE82156.1; -; mRNA.
EMBL; FJ938021; ACR24650.1; -; mRNA.
EMBL; DQ784808; ABQ01243.1; -; Genomic_DNA.
EMBL; AC006343; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; AC011234; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; CH471173; EAW54072.1; -; Genomic_DNA.
EMBL; AJ010538; CAA09232.1; ALT_SEQ; Genomic_DNA.
EMBL; AJ010539; CAA09232.1; JOINED; Genomic_DNA.
EMBL; AJ010540; CAA09232.1; JOINED; Genomic_DNA.
EMBL; AJ010541; CAA09232.1; JOINED; Genomic_DNA.
EMBL; AJ010542; CAA09232.1; JOINED; Genomic_DNA.
EMBL; AJ010543; CAA09232.1; JOINED; Genomic_DNA.
EMBL; AJ010544; CAA09232.1; JOINED; Genomic_DNA.
EMBL; AJ010545; CAA09232.1; JOINED; Genomic_DNA.
EMBL; AJ010546; CAA09232.1; JOINED; Genomic_DNA.
EMBL; AJ010547; CAA09232.1; JOINED; Genomic_DNA.
EMBL; AJ010548; CAA09232.1; JOINED; Genomic_DNA.
EMBL; AJ010549; CAA09232.1; JOINED; Genomic_DNA.
EMBL; AJ010550; CAA09232.1; JOINED; Genomic_DNA.
EMBL; AJ010551; CAA09232.1; JOINED; Genomic_DNA.
EMBL; CH471173; EAW54075.1; -; Genomic_DNA.
EMBL; BC001914; AAH01914.2; -; mRNA.
EMBL; BC004311; AAH04311.2; -; mRNA.
EMBL; AF052728; AAC69709.1; -; mRNA.
CCDS; CCDS5910.1; -. [Q12809-1]
CCDS; CCDS5911.1; -. [Q12809-2]
PIR; I38465; I38465.
RefSeq; NP_000229.1; NM_000238.3. [Q12809-1]
RefSeq; NP_001191727.1; NM_001204798.1. [Q12809-6]
RefSeq; NP_742053.1; NM_172056.2. [Q12809-5]
RefSeq; NP_742054.1; NM_172057.2. [Q12809-2]
UniGene; Hs.647099; -.
PDB; 1BYW; X-ray; 2.60 A; A=26-135.
PDB; 1UJL; NMR; -; A=570-611.
PDB; 2L0W; NMR; -; A=1-135.
PDB; 2L1M; NMR; -; A=1-135.
PDB; 2L4R; NMR; -; A=1-135.
PDB; 2LE7; NMR; -; A=532-551.
PDB; 2N7G; NMR; -; A=734-864.
PDB; 4HP9; X-ray; 2.12 A; A=10-135.
PDB; 4HQA; X-ray; 1.96 A; A=1-135.
PDB; 5VA1; EM; 3.70 A; A=1-1159.
PDB; 5VA2; EM; 3.80 A; A=1-1159.
PDB; 5VA3; EM; 4.00 A; A=1-1159.
PDBsum; 1BYW; -.
PDBsum; 1UJL; -.
PDBsum; 2L0W; -.
PDBsum; 2L1M; -.
PDBsum; 2L4R; -.
PDBsum; 2LE7; -.
PDBsum; 2N7G; -.
PDBsum; 4HP9; -.
PDBsum; 4HQA; -.
PDBsum; 5VA1; -.
PDBsum; 5VA2; -.
PDBsum; 5VA3; -.
ProteinModelPortal; Q12809; -.
SMR; Q12809; -.
BioGrid; 109959; 23.
DIP; DIP-48929N; -.
IntAct; Q12809; 8.
MINT; MINT-1427435; -.
STRING; 9606.ENSP00000262186; -.
BindingDB; Q12809; -.
ChEMBL; CHEMBL240; -.
DrugBank; DB00346; Alfuzosin.
DrugBank; DB01118; Amiodarone.
DrugBank; DB00276; Amsacrine.
DrugBank; DB00637; Astemizole.
DrugBank; DB04957; Azimilide.
DrugBank; DB01136; Carvedilol.
DrugBank; DB00477; Chlorpromazine.
DrugBank; DB00537; Ciprofloxacin.
DrugBank; DB00604; Cisapride.
DrugBank; DB01211; Clarithromycin.
DrugBank; DB00204; Dofetilide.
DrugBank; DB00590; Doxazosin.
DrugBank; DB01142; Doxepin.
DrugBank; DB04855; Dronedarone.
DrugBank; DB00199; Erythromycin.
DrugBank; DB01218; Halofantrine.
DrugBank; DB00308; Ibutilide.
DrugBank; DB00458; Imipramine.
DrugBank; DB01110; Miconazole.
DrugBank; DB01100; Pimozide.
DrugBank; DB00457; Prazosin.
DrugBank; DB01182; Propafenone.
DrugBank; DB00908; Quinidine.
DrugBank; DB06144; Sertindole.
DrugBank; DB00489; Sotalol.
DrugBank; DB01162; Terazosin.
DrugBank; DB00342; Terfenadine.
DrugBank; DB00679; Thioridazine.
DrugBank; DB00661; Verapamil.
GuidetoPHARMACOLOGY; 572; -.
TCDB; 1.A.1.20.1; the voltage-gated ion channel (vic) superfamily.
iPTMnet; Q12809; -.
PhosphoSitePlus; Q12809; -.
BioMuta; KCNH2; -.
DMDM; 7531135; -.
PaxDb; Q12809; -.
PeptideAtlas; Q12809; -.
PRIDE; Q12809; -.
DNASU; 3757; -.
Ensembl; ENST00000262186; ENSP00000262186; ENSG00000055118. [Q12809-1]
Ensembl; ENST00000330883; ENSP00000328531; ENSG00000055118. [Q12809-2]
GeneID; 3757; -.
KEGG; hsa:3757; -.
UCSC; uc003wib.4; human. [Q12809-1]
CTD; 3757; -.
DisGeNET; 3757; -.
GeneCards; KCNH2; -.
GeneReviews; KCNH2; -.
HGNC; HGNC:6251; KCNH2.
MalaCards; KCNH2; -.
MIM; 152427; gene.
MIM; 609620; phenotype.
MIM; 613688; phenotype.
neXtProt; NX_Q12809; -.
OpenTargets; ENSG00000055118; -.
Orphanet; 51083; Familial short QT syndrome.
Orphanet; 101016; Romano-Ward syndrome.
PharmGKB; PA212; -.
eggNOG; KOG0498; Eukaryota.
eggNOG; ENOG410XPSE; LUCA.
GeneTree; ENSGT00760000118772; -.
HOGENOM; HOG000207541; -.
HOVERGEN; HBG052232; -.
InParanoid; Q12809; -.
KO; K04905; -.
OMA; GPWGESP; -.
OrthoDB; EOG091G024C; -.
PhylomeDB; Q12809; -.
TreeFam; TF313130; -.
Reactome; R-HSA-1296072; Voltage gated Potassium channels.
Reactome; R-HSA-5576890; Phase 3 - rapid repolarisation.
SignaLink; Q12809; -.
SIGNOR; Q12809; -.
ChiTaRS; KCNH2; human.
EvolutionaryTrace; Q12809; -.
GeneWiki; HERG; -.
GenomeRNAi; 3757; -.
PRO; PR:Q12809; -.
Proteomes; UP000005640; Chromosome 7.
Bgee; ENSG00000055118; -.
CleanEx; HS_ERG; -.
CleanEx; HS_KCNH2; -.
ExpressionAtlas; Q12809; baseline and differential.
Genevisible; Q12809; HS.
GO; GO:0009986; C:cell surface; IDA:BHF-UCL.
GO; GO:0048471; C:perinuclear region of cytoplasm; IMP:BHF-UCL.
GO; GO:0005886; C:plasma membrane; IDA:BHF-UCL.
GO; GO:0008076; C:voltage-gated potassium channel complex; IDA:BHF-UCL.
GO; GO:0055131; F:C3HC4-type RING finger domain binding; IPI:BHF-UCL.
GO; GO:0005251; F:delayed rectifier potassium channel activity; IDA:BHF-UCL.
GO; GO:0042802; F:identical protein binding; IPI:IntAct.
GO; GO:0005242; F:inward rectifier potassium channel activity; IDA:BHF-UCL.
GO; GO:0000155; F:phosphorelay sensor kinase activity; IEA:InterPro.
GO; GO:0042803; F:protein homodimerization activity; IPI:BHF-UCL.
GO; GO:0097110; F:scaffold protein binding; IPI:BHF-UCL.
GO; GO:0031625; F:ubiquitin protein ligase binding; IPI:BHF-UCL.
GO; GO:0005249; F:voltage-gated potassium channel activity; IDA:BHF-UCL.
GO; GO:0086008; F:voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization; IC:BHF-UCL.
GO; GO:1902282; F:voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization; IMP:BHF-UCL.
GO; GO:0061337; P:cardiac conduction; TAS:Reactome.
GO; GO:0060048; P:cardiac muscle contraction; IMP:BHF-UCL.
GO; GO:0035690; P:cellular response to drug; IDA:BHF-UCL.
GO; GO:0086010; P:membrane depolarization during action potential; IDA:BHF-UCL.
GO; GO:0086011; P:membrane repolarization during action potential; IDA:BHF-UCL.
GO; GO:0086013; P:membrane repolarization during cardiac muscle cell action potential; IMP:BHF-UCL.
GO; GO:0098915; P:membrane repolarization during ventricular cardiac muscle cell action potential; IMP:BHF-UCL.
GO; GO:1902303; P:negative regulation of potassium ion export; IDA:BHF-UCL.
GO; GO:1901380; P:negative regulation of potassium ion transmembrane transport; IDA:BHF-UCL.
GO; GO:1901381; P:positive regulation of potassium ion transmembrane transport; IDA:BHF-UCL.
GO; GO:0071435; P:potassium ion export; IDA:BHF-UCL.
GO; GO:0097623; P:potassium ion export across plasma membrane; IGI:BHF-UCL.
GO; GO:0055075; P:potassium ion homeostasis; IDA:BHF-UCL.
GO; GO:0071805; P:potassium ion transmembrane transport; IDA:BHF-UCL.
GO; GO:0086091; P:regulation of heart rate by cardiac conduction; IMP:BHF-UCL.
GO; GO:0003064; P:regulation of heart rate by hormone; TAS:BHF-UCL.
GO; GO:0042391; P:regulation of membrane potential; IDA:BHF-UCL.
GO; GO:0060306; P:regulation of membrane repolarization; IDA:BHF-UCL.
GO; GO:1901379; P:regulation of potassium ion transmembrane transport; IDA:BHF-UCL.
GO; GO:0060307; P:regulation of ventricular cardiac muscle cell membrane repolarization; IMP:BHF-UCL.
GO; GO:0086005; P:ventricular cardiac muscle cell action potential; IMP:BHF-UCL.
CDD; cd00130; PAS; 1.
Gene3D; 2.60.120.10; -; 1.
InterPro; IPR018490; cNMP-bd-like.
InterPro; IPR000595; cNMP-bd_dom.
InterPro; IPR005821; Ion_trans_dom.
InterPro; IPR003938; K_chnl_volt-dep_EAG/ELK/ERG.
InterPro; IPR003967; K_chnl_volt-dep_ERG.
InterPro; IPR001610; PAC.
InterPro; IPR000014; PAS.
InterPro; IPR000700; PAS-assoc_C.
InterPro; IPR014710; RmlC-like_jellyroll.
Pfam; PF00027; cNMP_binding; 1.
Pfam; PF00520; Ion_trans; 1.
Pfam; PF13426; PAS_9; 1.
PRINTS; PR01463; EAGCHANLFMLY.
PRINTS; PR01470; ERGCHANNEL.
SMART; SM00100; cNMP; 1.
SMART; SM00086; PAC; 1.
SUPFAM; SSF51206; SSF51206; 1.
SUPFAM; SSF55785; SSF55785; 1.
TIGRFAMs; TIGR00229; sensory_box; 1.
PROSITE; PS50042; CNMP_BINDING_3; 1.
PROSITE; PS50113; PAC; 1.
PROSITE; PS50112; PAS; 1.
1: Evidence at protein level;
3D-structure; Alternative splicing; Cell membrane; Complete proteome;
Deafness; Disease mutation; Glycoprotein; Ion channel; Ion transport;
Long QT syndrome; Membrane; Methylation; Phosphoprotein; Polymorphism;
Potassium; Potassium channel; Potassium transport; Reference proteome;
Short QT syndrome; Transmembrane; Transmembrane helix; Transport;
Voltage-gated channel.
CHAIN 1 1159 Potassium voltage-gated channel subfamily
H member 2.
/FTId=PRO_0000053999.
TOPO_DOM 1 403 Cytoplasmic. {ECO:0000255}.
TRANSMEM 404 424 Helical; Name=Segment S1. {ECO:0000255}.
TOPO_DOM 425 450 Extracellular. {ECO:0000255}.
TRANSMEM 451 471 Helical; Name=Segment S2. {ECO:0000255}.
TOPO_DOM 472 495 Cytoplasmic. {ECO:0000255}.
TRANSMEM 496 516 Helical; Name=Segment S3. {ECO:0000255}.
TOPO_DOM 517 520 Extracellular. {ECO:0000255}.
TRANSMEM 521 541 Helical; Voltage-sensor; Name=Segment S4.
{ECO:0000255}.
TOPO_DOM 542 547 Cytoplasmic. {ECO:0000255}.
TRANSMEM 548 568 Helical; Name=Segment S5. {ECO:0000255}.
TOPO_DOM 569 611 Extracellular. {ECO:0000255}.
INTRAMEM 612 632 Pore-forming; Name=Segment H5.
{ECO:0000255}.
TOPO_DOM 633 638 Extracellular. {ECO:0000255}.
TRANSMEM 639 659 Helical; Name=Segment S6. {ECO:0000255}.
TOPO_DOM 660 1159 Cytoplasmic. {ECO:0000255}.
DOMAIN 41 70 PAS. {ECO:0000255|PROSITE-
ProRule:PRU00140}.
DOMAIN 92 144 PAC. {ECO:0000255|PROSITE-
ProRule:PRU00141}.
NP_BIND 742 842 cNMP.
MOTIF 624 629 Selectivity filter. {ECO:0000250}.
COMPBIAS 297 300 Poly-Pro.
MOD_RES 239 239 Phosphoserine.
{ECO:0000244|PubMed:23186163}.
MOD_RES 243 243 Phosphoserine.
{ECO:0000250|UniProtKB:O35219}.
MOD_RES 283 283 Phosphoserine.
{ECO:0000250|UniProtKB:O35219}.
MOD_RES 284 284 Phosphoserine.
{ECO:0000250|UniProtKB:O35219}.
MOD_RES 320 320 Phosphoserine.
{ECO:0000244|PubMed:19690332,
ECO:0000244|PubMed:23186163}.
MOD_RES 351 351 Phosphoserine.
{ECO:0000250|UniProtKB:O08962}.
MOD_RES 871 871 Phosphoserine.
{ECO:0000244|PubMed:23186163}.
MOD_RES 874 874 Phosphoserine.
{ECO:0000250|UniProtKB:O35219}.
MOD_RES 1014 1014 Omega-N-methylarginine.
{ECO:0000250|UniProtKB:O35219}.
MOD_RES 1137 1137 Phosphoserine.
{ECO:0000244|PubMed:23186163}.
CARBOHYD 598 598 N-linked (GlcNAc...) asparagine.
{ECO:0000269|PubMed:12063277}.
VAR_SEQ 1 376 MPVRRGHVAPQNTFLDTIIRKFEGQSRKFIIANARVENCAV
IYCNDGFCELCGYSRAEVMQRPCTCDFLHGPRTQRRAAAQI
AQALLGAEERKVEIAFYRKDGSCFLCLVDVVPVKNEDGAVI
MFILNFEVVMEKDMVGSPAHDTNHRGPPTSWLAPGRAKTFR
LKLPALLALTARESSVRSGGAGGAGAPGAVVVDVDLTPAAP
SSESLALDEVTAMDNHVAGLGPAEERRALVGPGSPPRSAPG
QLPSPRAHSLNPDASGSSCSLARTRSRESCASVRRASSADD
IEAMRAGVLPPPPRHASTGAMHPLRSGLLNSTSDSDLVRYR
TISKIPQITLNFVDLKGDPFLASPTSDREIIAPKIKERTHN
VTEKVTQ -> MAAPAGKASRTGALRPRAQKGRVRRAVRIS
SLVAQE (in isoform B).
{ECO:0000303|PubMed:12431979,
ECO:0000303|PubMed:9351446,
ECO:0000303|PubMed:9351462}.
/FTId=VSP_000965.
VAR_SEQ 1 102 MPVRRGHVAPQNTFLDTIIRKFEGQSRKFIIANARVENCAV
IYCNDGFCELCGYSRAEVMQRPCTCDFLHGPRTQRRAAAQI
AQALLGAEERKVEIAFYRKD -> MSSHSA (in
isoform 3.1).
{ECO:0000303|PubMed:19412172}.
/FTId=VSP_047877.
VAR_SEQ 1 36 MPVRRGHVAPQNTFLDTIIRKFEGQSRKFIIANARV -> M
AAPAGKASRTGALRPRAQKGRVRRAVRISSLVAQE (in
isoform B-USO).
{ECO:0000303|PubMed:18559421}.
/FTId=VSP_047878.
VAR_SEQ 37 376 Missing (in isoform B-USO).
{ECO:0000303|PubMed:18559421}.
/FTId=VSP_047879.
VAR_SEQ 139 195 Missing (in isoform 4).
{ECO:0000303|PubMed:15489334}.
/FTId=VSP_000966.
VAR_SEQ 801 888 KNDIFGEPLNLYARPGKSNGDVRALTYCDLHKIHRDDLLEV
LDMYPEFSDHFWSSLEITFNLRDTNMIPGSPGSTELEGGFS
RQRKRK -> MGWGAGTGLEMPSAASRGASLLNMQSLGLWT
WDCLQGHWAPLIHLNSGPPSGAMERSPTWGEAAELWGSHIL
LPFRIRHKQTLFASLK (in isoform A-USO and
isoform B-USO).
{ECO:0000303|PubMed:11374908,
ECO:0000303|PubMed:18559421,
ECO:0000303|PubMed:9765245}.
/FTId=VSP_047880.
VAR_SEQ 889 1159 Missing (in isoform A-USO and isoform B-
USO). {ECO:0000303|PubMed:11374908,
ECO:0000303|PubMed:18559421,
ECO:0000303|PubMed:9765245}.
/FTId=VSP_047881.
VARIANT 16 16 D -> A (in LQT2; unknown pathological
significance; dbSNP:rs199472825).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074765.
VARIANT 20 20 R -> G (in LQT2; unknown pathological
significance; dbSNP:rs199473486).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074766.
VARIANT 26 26 S -> I (in LQT2; dbSNP:rs199472827).
{ECO:0000269|PubMed:15840476}.
/FTId=VAR_068249.
VARIANT 29 29 F -> L (in LQT2; dbSNP:rs199472830).
{ECO:0000269|PubMed:10187793,
ECO:0000269|PubMed:15840476,
ECO:0000269|PubMed:19716085}.
/FTId=VAR_008907.
VARIANT 30 30 I -> T (in LQT2; unknown pathological
significance; dbSNP:rs199472832).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074767.
VARIANT 31 31 I -> S (in LQT2; dbSNP:rs199472833).
{ECO:0000269|PubMed:15840476}.
/FTId=VAR_068250.
VARIANT 32 32 A -> T (in LQT2; unknown pathological
significance; dbSNP:rs199472834).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074768.
VARIANT 33 33 N -> T (in LQT2; dbSNP:rs199473487).
{ECO:0000269|PubMed:10187793}.
/FTId=VAR_008908.
VARIANT 41 41 V -> F (in LQT2; unknown pathological
significance; dbSNP:rs199472835).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074769.
VARIANT 43 43 Y -> C (in LQT2; unknown pathological
significance; dbSNP:rs199472836).
{ECO:0000269|PubMed:16414944}.
/FTId=VAR_074770.
VARIANT 45 45 N -> Y (in LQT2; unknown pathological
significance; dbSNP:rs199472839).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074771.
VARIANT 47 47 G -> V (in LQT2; dbSNP:rs199473490).
/FTId=VAR_009909.
VARIANT 49 49 C -> Y (in LQT2; unknown pathological
significance; dbSNP:rs199472840).
{ECO:0000269|PubMed:16414944}.
/FTId=VAR_074772.
VARIANT 53 53 G -> D (in LQT2; unknown pathological
significance; dbSNP:rs199473491).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074773.
VARIANT 53 53 G -> R (in LQT2; dbSNP:rs199472842).
{ECO:0000269|PubMed:10187793,
ECO:0000269|PubMed:15840476}.
/FTId=VAR_008909.
VARIANT 54 54 Y -> H (in LQT2; unknown pathological
significance; dbSNP:rs199472843).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074774.
VARIANT 55 55 S -> L (in LQT2; dbSNP:rs199472844).
{ECO:0000269|PubMed:15840476}.
/FTId=VAR_068251.
VARIANT 56 56 R -> Q (in LQT2; dbSNP:rs199472845).
{ECO:0000269|PubMed:10187793}.
/FTId=VAR_008910.
VARIANT 57 57 A -> P (in LQT2; unknown pathological
significance; dbSNP:rs199472846).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074775.
VARIANT 58 58 E -> A (in LQT2; unknown pathological
significance; dbSNP:rs199472847).
{ECO:0000269|PubMed:16414944}.
/FTId=VAR_074776.
VARIANT 58 58 E -> D (in LQT2; unknown pathological
significance; dbSNP:rs199473492).
{ECO:0000269|PubMed:16414944}.
/FTId=VAR_074777.
VARIANT 58 58 E -> G (in LQT2; unknown pathological
significance; dbSNP:rs199472847).
{ECO:0000269|PubMed:16414944}.
/FTId=VAR_074778.
VARIANT 64 64 C -> W (in LQT2; unknown pathological
significance; dbSNP:rs199473414).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074779.
VARIANT 64 64 C -> Y (in LQT2; decreased protein
stability; dbSNP:rs199473415).
{ECO:0000269|PubMed:27916661}.
/FTId=VAR_077953.
VARIANT 65 65 T -> P (in LQT2; decreased protein
stability; dbSNP:rs28933095).
{ECO:0000269|PubMed:12354768,
ECO:0000269|PubMed:15840476,
ECO:0000269|PubMed:27916661}.
/FTId=VAR_014371.
VARIANT 66 66 C -> G (in LQT2; dbSNP:rs199473416).
{ECO:0000269|PubMed:10187793}.
/FTId=VAR_008911.
VARIANT 68 68 F -> L (in LQT2; unknown pathological
significance; dbSNP:rs199473417).
{ECO:0000269|PubMed:16414944}.
/FTId=VAR_074780.
VARIANT 70 70 H -> N (in LQT2; unknown pathological
significance; dbSNP:rs199473418).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074781.
VARIANT 70 70 H -> R (in LQT2; dbSNP:rs199473419).
{ECO:0000269|PubMed:10187793,
ECO:0000269|PubMed:15840476,
ECO:0000269|PubMed:19716085}.
/FTId=VAR_008912.
VARIANT 71 71 G -> R (in LQT2; unknown pathological
significance; dbSNP:rs199473420).
{ECO:0000269|PubMed:16414944}.
/FTId=VAR_074782.
VARIANT 72 80 PRTQRRAAA -> RPV (in LQT2; unknown
pathological significance).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074783.
VARIANT 72 72 P -> L (in LQT2; unknown pathological
significance; dbSNP:rs199473421).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074784.
VARIANT 72 72 P -> Q (in LQT2; unknown pathological
significance; dbSNP:rs199473421).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_009910.
VARIANT 74 74 T -> M (in LQT2; dbSNP:rs199473422).
{ECO:0000269|PubMed:16414944,
ECO:0000269|PubMed:19716085}.
/FTId=VAR_074785.
VARIANT 74 74 T -> P (in LQT2; unknown pathological
significance; dbSNP:rs199473666).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074786.
VARIANT 74 74 T -> R (in LQT2; unknown pathological
significance; dbSNP:rs199473422).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074787.
VARIANT 78 78 A -> P (in LQT2; dbSNP:rs199472848).
{ECO:0000269|PubMed:10187793,
ECO:0000269|PubMed:15840476}.
/FTId=VAR_008913.
VARIANT 85 85 A -> V (in LQT2; dbSNP:rs199473494).
{ECO:0000269|PubMed:15840476,
ECO:0000269|PubMed:19716085}.
/FTId=VAR_068252.
VARIANT 86 86 L -> P (in LQT2; unknown pathological
significance; dbSNP:rs199472851).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074788.
VARIANT 86 86 L -> R (in LQT2; dbSNP:rs199472851).
{ECO:0000269|PubMed:10187793}.
/FTId=VAR_008914.
VARIANT 94 94 V -> G (in LQT2; unknown pathological
significance; dbSNP:rs199472852).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074789.
VARIANT 100 100 R -> G (in LQT2; digenic; the patient
also carries mutation N-1819 on SCN5A;
dbSNP:rs121912515).
{ECO:0000269|PubMed:16922724}.
/FTId=VAR_036669.
VARIANT 100 100 R -> Q (in LQT2; dbSNP:rs199472855).
{ECO:0000269|PubMed:15840476,
ECO:0000269|PubMed:19716085}.
/FTId=VAR_068253.
VARIANT 100 100 R -> W (in LQT2; unknown pathological
significance; dbSNP:rs121912515).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074790.
VARIANT 102 102 D -> A (in LQT2; unknown pathological
significance; dbSNP:rs199472857).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074791.
VARIANT 106 106 F -> Y (in LQT2; unknown pathological
significance; dbSNP:rs199472858).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074792.
VARIANT 108 108 C -> R (in LQT2; unknown pathological
significance; dbSNP:rs199472859).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074793.
VARIANT 114 114 P -> S (in LQT2; unknown pathological
significance; dbSNP:rs199472861).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074794.
VARIANT 125 125 F -> C (in LQT2; unknown pathological
significance; dbSNP:rs199473499).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074795.
VARIANT 141 141 P -> L (in LQT2; unknown pathological
significance; dbSNP:rs199472864).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074796.
VARIANT 149 149 G -> A (in LQT2; unknown pathological
significance; dbSNP:rs199472865).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074797.
VARIANT 164 164 R -> H (in LQT2; unknown pathological
significance; dbSNP:rs199472866).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074798.
VARIANT 176 176 R -> W (in LQT2; dbSNP:rs36210422).
{ECO:0000269|PubMed:10862094}.
/FTId=VAR_008915.
VARIANT 181 181 R -> Q (in dbSNP:rs41308954).
/FTId=VAR_036670.
VARIANT 189 189 G -> GGAG. {ECO:0000269|PubMed:10790218}.
/FTId=VAR_014372.
VARIANT 218 218 M -> V (in LQT2; unknown pathological
significance; dbSNP:rs199472869).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074799.
VARIANT 238 238 G -> S (in LQT2; dbSNP:rs199473501).
{ECO:0000269|PubMed:15840476}.
/FTId=VAR_068254.
VARIANT 242 242 R -> G (in LQT2; unknown pathological
significance; dbSNP:rs199472872).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074800.
VARIANT 251 251 P -> S (in LQT2; unknown pathological
significance; dbSNP:rs199472873).
{ECO:0000269|PubMed:16414944}.
/FTId=VAR_074801.
VARIANT 259 259 D -> N (in LQT2; unknown pathological
significance; dbSNP:rs199472876).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074802.
VARIANT 277 277 A -> D (in LQT2; unknown pathological
significance; dbSNP:rs199472878).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074803.
VARIANT 291 291 M -> T (in LQT2; unknown pathological
significance; dbSNP:rs199472881).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074804.
VARIANT 301 301 R -> L (in LQT2; unknown pathological
significance; dbSNP:rs199472883).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074805.
VARIANT 306 306 G -> W (in LQT2; dbSNP:rs199472884).
{ECO:0000269|PubMed:15840476}.
/FTId=VAR_068255.
VARIANT 312 312 R -> C (in LQT2; unknown pathological
significance; dbSNP:rs199472885).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_009911.
VARIANT 314 314 G -> S (in LQT2; unknown pathological
significance; dbSNP:rs199473504).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074806.
VARIANT 320 320 S -> L (in LQT2; dbSNP:rs199472886).
{ECO:0000269|PubMed:15840476}.
/FTId=VAR_068256.
VARIANT 323 323 D -> N (in LQT2; unknown pathological
significance; dbSNP:rs199472887).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074807.
VARIANT 328 328 R -> C (in LQT2; dbSNP:rs199473505).
{ECO:0000269|PubMed:15840476,
ECO:0000269|PubMed:19716085}.
/FTId=VAR_068257.
VARIANT 347 347 P -> S (in LQT2; dbSNP:rs138776684).
/FTId=VAR_009912.
VARIANT 402 402 H -> R (in LQT2; unknown pathological
significance; dbSNP:rs199473506).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074808.
VARIANT 410 410 W -> S (in LQT2; unknown pathological
significance; dbSNP:rs199472892).
{ECO:0000269|PubMed:16414944}.
/FTId=VAR_074809.
VARIANT 413 413 L -> P (in LQT2; dbSNP:rs199472893).
{ECO:0000269|PubMed:12442276}.
/FTId=VAR_074684.
VARIANT 420 420 Y -> C (in LQT2; dbSNP:rs199473507).
{ECO:0000269|PubMed:15840476}.
/FTId=VAR_068258.
VARIANT 421 421 T -> M (in LQT2; dbSNP:rs199472894).
{ECO:0000269|PubMed:15840476,
ECO:0000269|PubMed:19716085}.
/FTId=VAR_068259.
VARIANT 422 422 A -> T (in LQT2; dbSNP:rs199472895).
{ECO:0000269|PubMed:15840476}.
/FTId=VAR_068260.
VARIANT 426 426 P -> H (in LQT2; unknown pathological
significance; dbSNP:rs199472896).
{ECO:0000269|PubMed:16414944}.
/FTId=VAR_074810.
VARIANT 427 427 Y -> C (in LQT2; unknown pathological
significance; dbSNP:rs199472897).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074811.
VARIANT 427 427 Y -> H (in LQT2; dbSNP:rs199472898).
{ECO:0000269|PubMed:16414944,
ECO:0000269|PubMed:16922724}.
/FTId=VAR_074812.
VARIANT 427 427 Y -> S (in LQT2; dbSNP:rs199472897).
{ECO:0000269|PubMed:15840476}.
/FTId=VAR_068261.
VARIANT 428 428 S -> L (in LQT2; unknown pathological
significance; dbSNP:rs199472899).
{ECO:0000269|PubMed:16414944}.
/FTId=VAR_074813.
VARIANT 431 431 F -> L (in LQT2; unknown pathological
significance; dbSNP:rs199472900).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074814.
VARIANT 436 436 T -> M (in LQT2; dbSNP:rs199472901).
/FTId=VAR_008916.
VARIANT 440 440 P -> L (in LQT2; unknown pathological
significance; dbSNP:rs199473509).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074815.
VARIANT 444 444 E -> D (in LQT2; dbSNP:rs9770044).
{ECO:0000269|PubMed:12442276}.
/FTId=VAR_074685.
VARIANT 451 451 P -> L (in LQT2; dbSNP:rs199472902).
{ECO:0000269|PubMed:10862094,
ECO:0000269|PubMed:19716085}.
/FTId=VAR_014373.
VARIANT 456 456 D -> Y (in LQT2; dbSNP:rs199473510).
{ECO:0000269|PubMed:15840476}.
/FTId=VAR_068262.
VARIANT 460 460 D -> Y (in LQT2; unknown pathological
significance; dbSNP:rs199472903).
{ECO:0000269|PubMed:16414944}.
/FTId=VAR_074816.
VARIANT 466 466 D -> Y (in LQT2; unknown pathological
significance; dbSNP:rs199473511).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074817.
VARIANT 470 470 N -> D (in LQT2; aberrant protein folding
increases the association of mutant KCNH2
with CANX and results in defective
protein trafficking; dbSNP:rs121912505).
{ECO:0000269|PubMed:16361248,
ECO:0000269|PubMed:7889573}.
/FTId=VAR_008578.
VARIANT 473 473 T -> N (in LQT2; unknown pathological
significance; dbSNP:rs199472905).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074818.
VARIANT 474 474 T -> I (in LQT2; dbSNP:rs199472906).
{ECO:0000269|PubMed:9024139}.
/FTId=VAR_008917.
VARIANT 475 475 Y -> C (in LQT2; unknown pathological
significance; dbSNP:rs199472907).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074819.
VARIANT 475 475 Missing (in LQT2).
{ECO:0000269|PubMed:15840476}.
/FTId=VAR_068263.
VARIANT 476 476 V -> I (in LQT2; unknown pathological
significance; dbSNP:rs199472908).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074820.
VARIANT 490 490 A -> T (in LQT2; bradycardia-induced;
dbSNP:rs28928905).
{ECO:0000269|PubMed:11170080,
ECO:0000269|PubMed:19716085}.
/FTId=VAR_036671.
VARIANT 493 493 Y -> C (in LQT2; unknown pathological
significance; dbSNP:rs199472911).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074821.
VARIANT 493 493 Y -> S (in LQT2; unknown pathological
significance; dbSNP:rs199472911).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074822.
VARIANT 500 508 Missing (in LQT2).
/FTId=VAR_009178.
VARIANT 501 501 D -> H (in LQT2; unknown pathological
significance; dbSNP:rs199472912).
{ECO:0000269|PubMed:16414944}.
/FTId=VAR_074823.
VARIANT 501 501 D -> N (in LQT2; unknown pathological
significance; dbSNP:rs199472912).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074824.
VARIANT 525 525 K -> N (in LQT2; located on the same
allele as Pro-528; dbSNP:rs199472913).
{ECO:0000269|PubMed:16922724}.
/FTId=VAR_036672.
VARIANT 528 528 R -> P (in LQT2; located on the same
allele as Asn-525; dbSNP:rs199472914).
{ECO:0000269|PubMed:16922724}.
/FTId=VAR_036673.
VARIANT 531 531 R -> Q (in LQT2; dbSNP:rs199473515).
/FTId=VAR_009913.
VARIANT 531 531 R -> W (in LQT2; unknown pathological
significance; dbSNP:rs199472915).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074825.
VARIANT 534 534 R -> C (in LQT2; dbSNP:rs199472916).
{ECO:0000269|PubMed:15840476,
ECO:0000269|PubMed:19716085,
ECO:0000269|PubMed:9600240}.
/FTId=VAR_008579.
VARIANT 534 534 R -> L (in LQT2; dbSNP:rs199473516).
{ECO:0000269|PubMed:16414944,
ECO:0000269|PubMed:19716085}.
/FTId=VAR_074826.
VARIANT 552 552 L -> S (in LQT2; dbSNP:rs199472918).
{ECO:0000269|PubMed:15840476,
ECO:0000269|PubMed:19716085}.
/FTId=VAR_008918.
VARIANT 558 558 A -> E (in LQT2; unknown pathological
significance; dbSNP:rs199472919).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074827.
VARIANT 558 558 A -> P (in LQT2; dbSNP:rs121912516).
{ECO:0000269|PubMed:10220144}.
/FTId=VAR_008919.
VARIANT 559 559 L -> H (in LQT2; dbSNP:rs199472920).
{ECO:0000269|PubMed:12442276}.
/FTId=VAR_074686.
VARIANT 561 561 A -> T (in LQT2; dbSNP:rs199472921).
{ECO:0000269|PubMed:15840476,
ECO:0000269|PubMed:19716085,
ECO:0000269|PubMed:8877771}.
/FTId=VAR_014374.
VARIANT 561 561 A -> V (in LQT2; the mutation reduces
wild-type channel expression;
dbSNP:rs121912504).
{ECO:0000269|PubMed:10753933,
ECO:0000269|PubMed:15840476,
ECO:0000269|PubMed:19716085,
ECO:0000269|PubMed:7889573}.
/FTId=VAR_008580.
VARIANT 562 562 H -> P (in LQT2; dbSNP:rs199472922).
{ECO:0000269|PubMed:15840476}.
/FTId=VAR_068264.
VARIANT 562 562 H -> R (in LQT2; unknown pathological
significance; dbSNP:rs199472922).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074828.
VARIANT 564 564 L -> P (in LQT2; dbSNP:rs199472924).
/FTId=VAR_008920.
VARIANT 565 565 A -> T (in LQT2; unknown pathological
significance; dbSNP:rs199473518).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074829.
VARIANT 566 566 C -> S (in LQT2; unknown pathological
significance; dbSNP:rs199472925).
{ECO:0000269|PubMed:16414944}.
/FTId=VAR_074830.
VARIANT 568 568 W -> R (in LQT2; unknown pathological
significance; dbSNP:rs199472927).
{ECO:0000269|PubMed:16414944}.
/FTId=VAR_074831.
VARIANT 569 569 Y -> H (in LQT2; dbSNP:rs199473520).
{ECO:0000269|PubMed:10862094}.
/FTId=VAR_008921.
VARIANT 571 571 I -> L (in LQT2; dbSNP:rs199472928).
{ECO:0000269|PubMed:15840476}.
/FTId=VAR_068265.
VARIANT 571 571 I -> V (in LQT2; unknown pathological
significance; dbSNP:rs199472928).
{ECO:0000269|PubMed:16414944}.
/FTId=VAR_074832.
VARIANT 572 572 G -> C (in LQT2; dbSNP:rs9333649).
{ECO:0000269|PubMed:9693036}.
/FTId=VAR_008923.
VARIANT 572 572 G -> D (in LQT2; dbSNP:rs199473423).
{ECO:0000269|PubMed:16414944,
ECO:0000269|PubMed:19716085}.
/FTId=VAR_074833.
VARIANT 572 572 G -> R (in LQT2; severe form;
dbSNP:rs9333649).
{ECO:0000269|PubMed:10735633}.
/FTId=VAR_008922.
VARIANT 572 572 G -> S (in LQT2; dbSNP:rs9333649).
{ECO:0000269|PubMed:15840476,
ECO:0000269|PubMed:19716085}.
/FTId=VAR_068266.
VARIANT 572 572 G -> V (in LQT2; unknown pathological
significance; dbSNP:rs199473423).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074834.
VARIANT 582 582 R -> C (in LQT2; dbSNP:rs121912508).
{ECO:0000269|PubMed:10220144,
ECO:0000269|PubMed:15840476,
ECO:0000269|PubMed:19716085}.
/FTId=VAR_008581.
VARIANT 582 582 R -> L (in LQT2; unknown pathological
significance; dbSNP:rs199473426).
{ECO:0000269|PubMed:16414944}.
/FTId=VAR_074835.
VARIANT 584 584 G -> R (in LQT2; unknown pathological
significance; dbSNP:rs199473428).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074836.
VARIANT 584 584 G -> S (in LQT2; dbSNP:rs199473428).
{ECO:0000269|PubMed:10862094,
ECO:0000269|PubMed:15840476,
ECO:0000269|PubMed:19716085}.
/FTId=VAR_008924.
VARIANT 585 585 W -> C (in LQT2; unknown pathological
significance; dbSNP:rs199473430).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_009914.
VARIANT 588 588 N -> D (in LQT2; dbSNP:rs199473431).
{ECO:0000269|PubMed:15840476,
ECO:0000269|PubMed:9693036}.
/FTId=VAR_008925.
VARIANT 588 588 N -> K (in SQT1; dbSNP:rs104894021).
{ECO:0000269|PubMed:14676148,
ECO:0000269|PubMed:15828882}.
/FTId=VAR_023840.
VARIANT 593 593 I -> K (in LQT2; unknown pathological
significance; dbSNP:rs28928904).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074837.
VARIANT 593 593 I -> R (in LQT2; dbSNP:rs28928904).
{ECO:0000269|PubMed:8635257}.
/FTId=VAR_008582.
VARIANT 593 593 I -> T (in LQT2; dbSNP:rs28928904).
/FTId=VAR_009915.
VARIANT 594 594 G -> D (in LQT2; unknown pathological
significance; dbSNP:rs199472931).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074838.
VARIANT 596 596 P -> H (in LQT2; unknown pathological
significance; dbSNP:rs199472933).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074839.
VARIANT 596 596 P -> L (in LQT2; unknown pathological
significance; dbSNP:rs199472933).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074840.
VARIANT 596 596 P -> R (in LQT2; dbSNP:rs199472933).
{ECO:0000269|PubMed:15840476}.
/FTId=VAR_068267.
VARIANT 597 597 Y -> C (in LQT2; unknown pathological
significance; dbSNP:rs199472934).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074841.
VARIANT 599 599 S -> R (in LQT2; unknown pathological
significance; dbSNP:rs199472935).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074842.
VARIANT 601 601 G -> C (in LQT2; unknown pathological
significance; dbSNP:rs199472936).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074843.
VARIANT 601 601 G -> S (in LQT2; dbSNP:rs199472936).
{ECO:0000269|PubMed:10862094,
ECO:0000269|PubMed:19716085,
ECO:0000269|PubMed:9452080}.
/FTId=VAR_008926.
VARIANT 604 604 G -> S (in LQT2; dbSNP:rs199473522).
{ECO:0000269|PubMed:10220144,
ECO:0000269|PubMed:15840476,
ECO:0000269|PubMed:19716085}.
/FTId=VAR_008927.
VARIANT 605 605 P -> L (in LQT2; unknown pathological
significance; dbSNP:rs199472938).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074844.
VARIANT 605 605 P -> S (in LQT2; unknown pathological
significance; dbSNP:rs199472939).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074845.
VARIANT 609 609 D -> G (in LQT2; unknown pathological
significance; dbSNP:rs199472940).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074846.
VARIANT 609 609 D -> H (in LQT2; unknown pathological
significance; dbSNP:rs199472941).
{ECO:0000269|PubMed:16414944}.
/FTId=VAR_074847.
VARIANT 609 609 D -> N (in LQT2; dbSNP:rs199472941).
/FTId=VAR_009916.
VARIANT 611 611 Y -> H (in LQT2; dbSNP:rs199472942).
{ECO:0000269|PubMed:9024139}.
/FTId=VAR_008928.
VARIANT 612 612 V -> L (in LQT2; dbSNP:rs199472943).
{ECO:0000269|PubMed:9544837}.
/FTId=VAR_008929.
VARIANT 613 613 T -> M (in LQT2; dbSNP:rs199473524).
{ECO:0000269|PubMed:10220144,
ECO:0000269|PubMed:10862094,
ECO:0000269|PubMed:15840476,
ECO:0000269|PubMed:19716085}.
/FTId=VAR_008930.
VARIANT 614 614 A -> V (in LQT2; dbSNP:rs199472944).
{ECO:0000269|PubMed:15840476,
ECO:0000269|PubMed:19716085,
ECO:0000269|PubMed:9024139,
ECO:0000269|PubMed:9544837,
ECO:0000269|PubMed:9693036}.
/FTId=VAR_008931.
VARIANT 615 615 L -> F (in LQT2; unknown pathological
significance; dbSNP:rs199472945).
{ECO:0000269|PubMed:16414944}.
/FTId=VAR_074848.
VARIANT 615 615 L -> V (in LQT2; dbSNP:rs199472945).
/FTId=VAR_014375.
VARIANT 616 616 Y -> C (in LQT2; unknown pathological
significance; dbSNP:rs199472946).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074849.
VARIANT 621 621 S -> R (in LQT2; unknown pathological
significance; dbSNP:rs199472949).
{ECO:0000269|PubMed:16414944}.
/FTId=VAR_074850.
VARIANT 622 622 L -> F (in LQT2; dbSNP:rs199473525).
{ECO:0000269|PubMed:15840476}.
/FTId=VAR_068268.
VARIANT 623 623 T -> I (in LQT2; dbSNP:rs199472950).
{ECO:0000269|PubMed:15840476}.
/FTId=VAR_068269.
VARIANT 626 626 G -> A (in LQT2; unknown pathological
significance; dbSNP:rs199472952).
{ECO:0000269|PubMed:16414944}.
/FTId=VAR_074851.
VARIANT 626 626 G -> D (in LQT2; unknown pathological
significance; dbSNP:rs199472952).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074852.
VARIANT 626 626 G -> S (in LQT2; dbSNP:rs199472953).
/FTId=VAR_014376.
VARIANT 627 627 F -> L (in LQT2; dbSNP:rs199473039).
/FTId=VAR_014377.
VARIANT 628 628 G -> S (in LQT2; dbSNP:rs121912507).
{ECO:0000269|PubMed:15840476,
ECO:0000269|PubMed:19716085,
ECO:0000269|PubMed:7889573}.
/FTId=VAR_008583.
VARIANT 628 628 G -> V (in LQT2; dbSNP:rs199472955).
{ECO:0000269|PubMed:15840476}.
/FTId=VAR_068270.
VARIANT 629 629 N -> D (in LQT2; dbSNP:rs199472956).
{ECO:0000269|PubMed:9544837}.
/FTId=VAR_008932.
VARIANT 629 629 N -> I (in LQT2; unknown pathological
significance; dbSNP:rs199472957).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074853.
VARIANT 629 629 N -> K (in LQT2; dbSNP:rs41307295).
{ECO:0000269|PubMed:10517660}.
/FTId=VAR_008933.
VARIANT 629 629 N -> S (in LQT2; dbSNP:rs199472957).
{ECO:0000269|PubMed:19716085,
ECO:0000269|PubMed:9544837}.
/FTId=VAR_009179.
VARIANT 630 630 V -> A (in LQT2; dbSNP:rs199473526).
{ECO:0000269|PubMed:15840476,
ECO:0000269|PubMed:9693036}.
/FTId=VAR_008935.
VARIANT 630 630 V -> L (in LQT2; dbSNP:rs199472958).
{ECO:0000269|PubMed:9024139}.
/FTId=VAR_008934.
VARIANT 632 632 P -> S (in LQT2; dbSNP:rs199473527).
/FTId=VAR_014378.
VARIANT 633 633 N -> S (in LQT2; dbSNP:rs199472961).
{ECO:0000269|PubMed:15840476,
ECO:0000269|PubMed:9544837}.
/FTId=VAR_008936.
VARIANT 634 634 T -> I (in LQT2; unknown pathological
significance; dbSNP:rs199472962).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074854.
VARIANT 635 635 N -> D (in LQT2; unknown pathological
significance; dbSNP:rs199472963).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074855.
VARIANT 635 635 N -> I (in LQT2; dbSNP:rs199472964).
{ECO:0000269|PubMed:15840476}.
/FTId=VAR_068271.
VARIANT 635 635 N -> K (in LQT2; unknown pathological
significance; dbSNP:rs199472965).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074856.
VARIANT 637 637 E -> D (in LQT2; dbSNP:rs199472966).
{ECO:0000269|PubMed:16414944,
ECO:0000269|PubMed:19716085}.
/FTId=VAR_074857.
VARIANT 637 637 E -> K (in LQT2; dbSNP:rs199472968).
{ECO:0000269|PubMed:12062363}.
/FTId=VAR_014379.
VARIANT 638 638 K -> E (in LQT2; dbSNP:rs199473528).
/FTId=VAR_014380.
VARIANT 638 638 K -> N (in LQT2; unknown pathological
significance; dbSNP:rs199472969).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074858.
VARIANT 638 638 Missing (in LQT2; unknown pathological
significance).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_014381.
VARIANT 640 640 F -> L (in LQT2; dbSNP:rs199472970).
{ECO:0000269|PubMed:10220144}.
/FTId=VAR_008937.
VARIANT 640 640 F -> V (in LQT2; dbSNP:rs199473529).
{ECO:0000269|PubMed:15840476}.
/FTId=VAR_068272.
VARIANT 641 641 S -> F (in LQT2; dbSNP:rs199472971).
{ECO:0000269|PubMed:15840476}.
/FTId=VAR_068273.
VARIANT 644 644 V -> F (in LQT2; dbSNP:rs199472972).
{ECO:0000269|PubMed:16414944,
ECO:0000269|PubMed:19716085}.
/FTId=VAR_074859.
VARIANT 644 644 V -> L (in LQT2; unknown pathological
significance; dbSNP:rs199472972).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074860.
VARIANT 645 645 M -> I (in LQT2; unknown pathological
significance; dbSNP:rs199472973).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074861.
VARIANT 645 645 M -> L (in LQT2; dbSNP:rs199472974).
/FTId=VAR_014382.
VARIANT 648 648 G -> S (in LQT2; unknown pathological
significance; dbSNP:rs199472975).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074862.
VARIANT 656 656 F -> C (in LQT2; unknown pathological
significance; dbSNP:rs199472977).
{ECO:0000269|PubMed:16414944}.
/FTId=VAR_074863.
VARIANT 657 657 G -> R (in LQT2; unknown pathological
significance; dbSNP:rs199472978).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074864.
VARIANT 660 660 S -> L (in LQT2; dbSNP:rs199472979).
{ECO:0000269|PubMed:16414944,
ECO:0000269|PubMed:19716085}.
/FTId=VAR_074865.
VARIANT 662 662 I -> T (in LQT2; unknown pathological
significance; dbSNP:rs199472980).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074866.
VARIANT 671 675 Missing (in LQT2).
{ECO:0000269|PubMed:15840476}.
/FTId=VAR_068274.
VARIANT 678 678 L -> P (in LQT2; unknown pathological
significance; dbSNP:rs199472981).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074867.
VARIANT 687 687 H -> Y (in LQT2; unknown pathological
significance; dbSNP:rs199472982).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074868.
VARIANT 693 693 L -> P (in LQT2; unknown pathological
significance; dbSNP:rs199472983).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074869.
VARIANT 696 696 R -> C (in LQT2; dbSNP:rs199472984).
{ECO:0000269|PubMed:16922724}.
/FTId=VAR_036674.
VARIANT 696 696 R -> P (in LQT2; unknown pathological
significance; dbSNP:rs199473531).
{ECO:0000269|PubMed:16414944}.
/FTId=VAR_074870.
VARIANT 711 711 I -> V (in LQT2; unknown pathological
significance; dbSNP:rs199473532).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074871.
VARIANT 721 721 P -> L (in LQT2; dbSNP:rs199472986).
{ECO:0000269|PubMed:15840476}.
/FTId=VAR_068275.
VARIANT 728 728 I -> F (in LQT2; unknown pathological
significance; dbSNP:rs199473533).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074872.
VARIANT 744 744 R -> P (in LQT2; impairs channel
function; exhibits reduced activating
currents compared to wild-type; cell
surface trafficking is not impaired; does
not exert dominant-negative effects on
wild-type channel; the half-maximal
activation voltage is not significantly
affected by the mutation).
{ECO:0000269|PubMed:22314138}.
/FTId=VAR_068276.
VARIANT 749 749 G -> V (in LQT2; unknown pathological
significance; dbSNP:rs199472989).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074873.
VARIANT 752 752 R -> Q (in LQT2; dbSNP:rs121912512).
{ECO:0000269|PubMed:12621127}.
/FTId=VAR_036675.
VARIANT 752 752 R -> W (in LQT2; dbSNP:rs199472990).
/FTId=VAR_014383.
VARIANT 757 757 K -> N (in LQT2; unknown pathological
significance; dbSNP:rs199472992).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074874.
VARIANT 767 767 D -> Y (in LQT2; unknown pathological
significance; dbSNP:rs199472993).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074875.
VARIANT 770 770 V -> A (in LQT2; unknown pathological
significance; dbSNP:rs199472994).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074876.
VARIANT 774 774 D -> Y (in LQT2; dbSNP:rs199472995).
{ECO:0000269|PubMed:15840476,
ECO:0000269|PubMed:19716085}.
/FTId=VAR_068277.
VARIANT 784 784 R -> W (predisposes to LQT2 and torsades
de pointes while taking the drug
amiodarone; in vitro studies confirmed a
significant reduction in potassium
currents; the ECG abnormalities reversed
on drug withdrawal; dbSNP:rs12720441).
{ECO:0000269|PubMed:11997281,
ECO:0000269|PubMed:15840476}.
/FTId=VAR_036676.
VARIANT 788 788 E -> D (in LQT2; dbSNP:rs199473535).
{ECO:0000269|PubMed:15840476}.
/FTId=VAR_068278.
VARIANT 788 788 E -> K (in LQT2; unknown pathological
significance; dbSNP:rs199472997).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074877.
VARIANT 791 799 Missing (in LQT2; unknown pathological
significance).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074878.
VARIANT 791 791 R -> W (in LQT2; unknown pathological
significance; dbSNP:rs138498207).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074879.
VARIANT 800 800 G -> W (in LQT2; unknown pathological
significance; dbSNP:rs199472998).
{ECO:0000269|PubMed:16414944}.
/FTId=VAR_074880.
VARIANT 805 805 F -> C (in LQT2; dbSNP:rs199472999).
{ECO:0000269|PubMed:15840476}.
/FTId=VAR_014384.
VARIANT 805 805 F -> S (in LQT2; dbSNP:rs199472999).
/FTId=VAR_014385.
VARIANT 806 806 G -> E (in LQT2; unknown pathological
significance; dbSNP:rs199473000).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074881.
VARIANT 818 818 S -> L (in LQT2; dbSNP:rs121912510).
{ECO:0000269|PubMed:10086971}.
/FTId=VAR_008938.
VARIANT 818 818 S -> P (in LQT2; unknown pathological
significance; dbSNP:rs199473537).
{ECO:0000269|PubMed:16414944}.
/FTId=VAR_074882.
VARIANT 820 820 G -> R (in LQT2; dbSNP:rs199473001).
{ECO:0000269|PubMed:15840476}.
/FTId=VAR_068279.
VARIANT 822 822 V -> M (in LQT2; dbSNP:rs121912506).
{ECO:0000269|PubMed:15840476,
ECO:0000269|PubMed:19716085,
ECO:0000269|PubMed:8914737}.
/FTId=VAR_008584.
VARIANT 823 823 R -> W (in LQT2; unknown pathological
significance; dbSNP:rs199473538).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_014386.
VARIANT 837 837 D -> G (in LQT2; dbSNP:rs199473004).
{ECO:0000269|PubMed:15840476}.
/FTId=VAR_068280.
VARIANT 837 837 D -> Y (in LQT2; unknown pathological
significance; dbSNP:rs199473005).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074883.
VARIANT 846 846 P -> S (in LQT2; unknown pathological
significance; dbSNP:rs199473006).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074884.
VARIANT 861 861 N -> H (in LQT2; unknown pathological
significance; dbSNP:rs199473007).
{ECO:0000269|PubMed:16414944}.
/FTId=VAR_074885.
VARIANT 861 861 N -> I (in LQT2; dbSNP:rs121912513).
{ECO:0000269|PubMed:15051636}.
/FTId=VAR_014387.
VARIANT 885 885 R -> C (in LQT2; unknown pathological
significance; dbSNP:rs143512106).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074886.
VARIANT 887 887 R -> H (in LQT2; dbSNP:rs199473432).
{ECO:0000269|PubMed:15840476}.
/FTId=VAR_068281.
VARIANT 894 894 R -> C (in LQT2; unknown pathological
significance; dbSNP:rs199473433).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074887.
VARIANT 894 894 R -> L (in LQT2; unknown pathological
significance; dbSNP:rs199473668).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074888.
VARIANT 897 897 K -> T (in dbSNP:rs1805123).
{ECO:0000269|PubMed:10862094,
ECO:0000269|PubMed:11997281}.
/FTId=VAR_014388.
VARIANT 903 903 G -> R (in LQT2; unknown pathological
significance; dbSNP:rs199473669).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074889.
VARIANT 906 906 S -> L (in LQT2; unknown pathological
significance; dbSNP:rs199473435).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074890.
VARIANT 913 913 A -> V (in LQT2; dbSNP:rs77331749).
{ECO:0000269|PubMed:15840476,
ECO:0000269|PubMed:19716085}.
/FTId=VAR_068282.
VARIANT 917 917 P -> L (in LQT2; dbSNP:rs76420733).
/FTId=VAR_014389.
VARIANT 920 920 R -> Q (in LQT2; unknown pathological
significance; dbSNP:rs199473670).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074891.
VARIANT 920 920 R -> W (in LQT2; unknown pathological
significance; dbSNP:rs199473438).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074892.
VARIANT 922 922 R -> Q (in LQT2; unknown pathological
significance; dbSNP:rs199473439).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074893.
VARIANT 922 922 R -> W (in LQT2; dbSNP:rs199473440).
/FTId=VAR_014390.
VARIANT 924 924 G -> A (in LQT2; unknown pathological
significance; dbSNP:rs199473009).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074894.
VARIANT 924 924 G -> E (in LQT2; unknown pathological
significance; dbSNP:rs199473009).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074895.
VARIANT 925 925 G -> R (in LQT2; dbSNP:rs199473010).
{ECO:0000269|PubMed:15840476}.
/FTId=VAR_068283.
VARIANT 937 937 S -> N (in LQT2; unknown pathological
significance; dbSNP:rs199473540).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074896.
VARIANT 948 948 R -> C (in LQT2; dbSNP:rs121912514).
{ECO:0000269|PubMed:16922724}.
/FTId=VAR_036677.
VARIANT 968 968 P -> L (in LQT2; unknown pathological
significance; dbSNP:rs199473017).
{ECO:0000269|PubMed:16414944}.
/FTId=VAR_074897.
VARIANT 983 983 T -> I (in LQT2; dbSNP:rs149955375).
{ECO:0000269|PubMed:15840476}.
/FTId=VAR_068284.
VARIANT 996 996 N -> I (in LQT2; dbSNP:rs199473018).
{ECO:0000269|PubMed:15840476}.
/FTId=VAR_068285.
VARIANT 1005 1005 R -> Q (in LQT2; unknown pathological
significance; dbSNP:rs199473019).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074898.
VARIANT 1007 1007 R -> H (in LQT2; unknown pathological
significance; dbSNP:rs199473542).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074899.
VARIANT 1016 1016 P -> L (in dbSNP:rs41313074).
/FTId=VAR_036679.
VARIANT 1016 1016 P -> S (in dbSNP:rs41307280).
/FTId=VAR_036678.
VARIANT 1020 1020 P -> S (in dbSNP:rs41307274).
/FTId=VAR_036680.
VARIANT 1026 1026 P -> L (in dbSNP:rs41307271).
/FTId=VAR_036681.
VARIANT 1033 1033 R -> W (in LQT2; unknown pathological
significance; dbSNP:rs199473021).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074900.
VARIANT 1036 1036 G -> D (in LQT2; dbSNP:rs199473022).
{ECO:0000269|PubMed:15840476}.
/FTId=VAR_068286.
VARIANT 1038 1038 V -> M (in LQT2; unknown pathological
significance; dbSNP:rs199473544).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074901.
VARIANT 1049 1049 L -> P (in LQT2; unknown pathological
significance; dbSNP:rs199473026).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074902.
VARIANT 1055 1055 R -> Q (in dbSNP:rs41307270).
/FTId=VAR_036682.
VARIANT 1066 1066 L -> V (in LQT2; unknown pathological
significance; dbSNP:rs199473027).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074903.
VARIANT 1078 1078 Y -> C (in LQT2; unknown pathological
significance; dbSNP:rs199473029).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074904.
VARIANT 1093 1093 P -> L (in LQT2; unknown pathological
significance; dbSNP:rs199473545).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074905.
VARIANT 1115 1115 M -> V (in LQT2; dbSNP:rs199473546).
{ECO:0000269|PubMed:19716085}.
/FTId=VAR_074906.
VARIANT 1153 1153 H -> Y (in LQT2; unknown pathological
significance; dbSNP:rs199473035).
{ECO:0000269|PubMed:16414944}.
/FTId=VAR_074907.
MUTAGEN 29 29 F->A: Slows down deactivation.
{ECO:0000269|PubMed:9845367}.
MUTAGEN 43 43 Y->A: Slows down deactivation.
{ECO:0000269|PubMed:9845367}.
MUTAGEN 283 283 S->A: Abolishes phosphorylation; when
associated with A-890; A-895 and A-1137.
{ECO:0000269|PubMed:10837251}.
MUTAGEN 598 598 N->Q: No effect on cell surface
expression, but changes inactivation
kinetics; when associated with A-631.
{ECO:0000269|PubMed:12063277}.
MUTAGEN 629 629 N->Q: Abolishes cell surface expression;
has no effect on N-glycosylation.
{ECO:0000269|PubMed:12063277}.
MUTAGEN 631 631 S->A: No effect on cell surface
expression, but changes inactivation
kinetics; when associated with Q-598.
{ECO:0000269|PubMed:12063277}.
MUTAGEN 890 890 S->A: Abolishes phosphorylation; when
associated with A-283; A-895 and A-1137.
{ECO:0000269|PubMed:10837251}.
MUTAGEN 895 895 T->A: Abolishes phosphorylation; when
associated with A-283; A-890 and A-1137.
{ECO:0000269|PubMed:10837251}.
MUTAGEN 1137 1137 S->A: Abolishes phosphorylation; when
associated with A-283; A-890 and A-895.
{ECO:0000269|PubMed:10837251}.
HELIX 15 19 {ECO:0000244|PDB:4HP9}.
TURN 23 26 {ECO:0000244|PDB:2L0W}.
STRAND 29 33 {ECO:0000244|PDB:4HQA}.
STRAND 36 38 {ECO:0000244|PDB:1BYW}.
STRAND 40 44 {ECO:0000244|PDB:4HQA}.
HELIX 46 52 {ECO:0000244|PDB:4HQA}.
HELIX 56 59 {ECO:0000244|PDB:4HQA}.
HELIX 67 69 {ECO:0000244|PDB:4HQA}.
HELIX 76 87 {ECO:0000244|PDB:4HQA}.
STRAND 88 90 {ECO:0000244|PDB:4HP9}.
STRAND 92 99 {ECO:0000244|PDB:4HQA}.
STRAND 105 116 {ECO:0000244|PDB:4HQA}.
STRAND 118 120 {ECO:0000244|PDB:4HQA}.
STRAND 122 134 {ECO:0000244|PDB:4HQA}.
TURN 538 540 {ECO:0000244|PDB:2LE7}.
HELIX 542 549 {ECO:0000244|PDB:2LE7}.
STRAND 577 580 {ECO:0000244|PDB:1UJL}.
HELIX 586 593 {ECO:0000244|PDB:1UJL}.
HELIX 605 610 {ECO:0000244|PDB:1UJL}.
HELIX 735 739 {ECO:0000244|PDB:2N7G}.
STRAND 743 745 {ECO:0000244|PDB:2N7G}.
TURN 748 750 {ECO:0000244|PDB:2N7G}.
HELIX 751 757 {ECO:0000244|PDB:2N7G}.
STRAND 759 763 {ECO:0000244|PDB:2N7G}.
STRAND 768 770 {ECO:0000244|PDB:2N7G}.
STRAND 778 785 {ECO:0000244|PDB:2N7G}.
STRAND 787 795 {ECO:0000244|PDB:2N7G}.
TURN 809 811 {ECO:0000244|PDB:2N7G}.
STRAND 819 824 {ECO:0000244|PDB:2N7G}.
STRAND 826 834 {ECO:0000244|PDB:2N7G}.
HELIX 835 844 {ECO:0000244|PDB:2N7G}.
HELIX 846 855 {ECO:0000244|PDB:2N7G}.
STRAND 859 861 {ECO:0000244|PDB:2N7G}.
SEQUENCE 1159 AA; 126655 MW; D03BD4F657641FBA CRC64;
MPVRRGHVAP QNTFLDTIIR KFEGQSRKFI IANARVENCA VIYCNDGFCE LCGYSRAEVM
QRPCTCDFLH GPRTQRRAAA QIAQALLGAE ERKVEIAFYR KDGSCFLCLV DVVPVKNEDG
AVIMFILNFE VVMEKDMVGS PAHDTNHRGP PTSWLAPGRA KTFRLKLPAL LALTARESSV
RSGGAGGAGA PGAVVVDVDL TPAAPSSESL ALDEVTAMDN HVAGLGPAEE RRALVGPGSP
PRSAPGQLPS PRAHSLNPDA SGSSCSLART RSRESCASVR RASSADDIEA MRAGVLPPPP
RHASTGAMHP LRSGLLNSTS DSDLVRYRTI SKIPQITLNF VDLKGDPFLA SPTSDREIIA
PKIKERTHNV TEKVTQVLSL GADVLPEYKL QAPRIHRWTI LHYSPFKAVW DWLILLLVIY
TAVFTPYSAA FLLKETEEGP PATECGYACQ PLAVVDLIVD IMFIVDILIN FRTTYVNANE
EVVSHPGRIA VHYFKGWFLI DMVAAIPFDL LIFGSGSEEL IGLLKTARLL RLVRVARKLD
RYSEYGAAVL FLLMCTFALI AHWLACIWYA IGNMEQPHMD SRIGWLHNLG DQIGKPYNSS
GLGGPSIKDK YVTALYFTFS SLTSVGFGNV SPNTNSEKIF SICVMLIGSL MYASIFGNVS
AIIQRLYSGT ARYHTQMLRV REFIRFHQIP NPLRQRLEEY FQHAWSYTNG IDMNAVLKGF
PECLQADICL HLNRSLLQHC KPFRGATKGC LRALAMKFKT THAPPGDTLV HAGDLLTALY
FISRGSIEIL RGDVVVAILG KNDIFGEPLN LYARPGKSNG DVRALTYCDL HKIHRDDLLE
VLDMYPEFSD HFWSSLEITF NLRDTNMIPG SPGSTELEGG FSRQRKRKLS FRRRTDKDTE
QPGEVSALGP GRAGAGPSSR GRPGGPWGES PSSGPSSPES SEDEGPGRSS SPLRLVPFSS
PRPPGEPPGG EPLMEDCEKS SDTCNPLSGA FSGVSNIFSF WGDSRGRQYQ ELPRCPAPTP
SLLNIPLSSP GRRPRGDVES RLDALQRQLN RLETRLSADM ATVLQLLQRQ MTLVPPAYSA
VTTPGPGPTS TSPLLPVSPL PTLTLDSLSQ VSQFMACEEL PPGAPELPQE GPTRRLSLPG
QLGALTSQPL HRHGSDPGS


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