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

 KCNQ2_MOUSE             Reviewed;         759 AA.
Q9Z351; Q3UTI0; Q8R498; Q9QWN9; Q9Z342; Q9Z343; Q9Z344; Q9Z345; Q9Z346;
Q9Z347; Q9Z348; Q9Z349; Q9Z350;
01-JUN-2001, integrated into UniProtKB/Swiss-Prot.
01-MAY-1999, sequence version 1.
29-SEP-2021, entry version 175.
RecName: Full=Potassium voltage-gated channel subfamily KQT member 2 {ECO:0000305};
AltName: Full=KQT-like 2 {ECO:0000303|PubMed:12223552};
AltName: Full=Potassium channel subunit alpha KvLQT2;
AltName: Full=Voltage-gated potassium channel subunit Kv7.2;
Name=Kcnq2 {ECO:0000312|MGI:MGI:1309503};
Synonyms=Kqt2 {ECO:0000303|PubMed:9666519};
Mus musculus (Mouse).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae;
Murinae; Mus; Mus.
NCBI_TaxID=10090;
[1]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2; 3; 4; 5; 6; 7; 8; 9; 10 AND 11).
TISSUE=Brain;
PubMed=9666519;
Nakamura M., Watanabe H., Kubo Y., Yokoyama M., Matsumoto T., Sasai H.,
Nishi Y.;
"KQT2, a new putative potassium channel family produced by alternative
splicing. Isolation, genomic structure, and alternative splicing of the
putative potassium channels.";
Recept. Channels 5:255-271(1998).
[2]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 12), FUNCTION, INTERACTION WITH
CALMODULIN, SUBCELLULAR LOCATION, AND MUTAGENESIS OF ARG-345; LYS-525 AND
ARG-526.
STRAIN=BALB/cJ;
PubMed=12223552; DOI=10.1523/jneurosci.22-18-07991.2002;
Wen H., Levitan I.B.;
"Calmodulin is an auxiliary subunit of KCNQ2/3 potassium channels.";
J. Neurosci. 22:7991-8001(2002).
[3]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 58-759 (ISOFORM 13).
STRAIN=C57BL/6J; TISSUE=Brain cortex;
PubMed=16141072; DOI=10.1126/science.1112014;
Carninci P., Kasukawa T., Katayama S., Gough J., Frith M.C., Maeda N.,
Oyama R., Ravasi T., Lenhard B., Wells C., Kodzius R., Shimokawa K.,
Bajic V.B., Brenner S.E., Batalov S., Forrest A.R., Zavolan M., Davis M.J.,
Wilming L.G., Aidinis V., Allen J.E., Ambesi-Impiombato A., Apweiler R.,
Aturaliya R.N., Bailey T.L., Bansal M., Baxter L., Beisel K.W., Bersano T.,
Bono H., Chalk A.M., Chiu K.P., Choudhary V., Christoffels A.,
Clutterbuck D.R., Crowe M.L., Dalla E., Dalrymple B.P., de Bono B.,
Della Gatta G., di Bernardo D., Down T., Engstrom P., Fagiolini M.,
Faulkner G., Fletcher C.F., Fukushima T., Furuno M., Futaki S.,
Gariboldi M., Georgii-Hemming P., Gingeras T.R., Gojobori T., Green R.E.,
Gustincich S., Harbers M., Hayashi Y., Hensch T.K., Hirokawa N., Hill D.,
Huminiecki L., Iacono M., Ikeo K., Iwama A., Ishikawa T., Jakt M.,
Kanapin A., Katoh M., Kawasawa Y., Kelso J., Kitamura H., Kitano H.,
Kollias G., Krishnan S.P., Kruger A., Kummerfeld S.K., Kurochkin I.V.,
Lareau L.F., Lazarevic D., Lipovich L., Liu J., Liuni S., McWilliam S.,
Madan Babu M., Madera M., Marchionni L., Matsuda H., Matsuzawa S., Miki H.,
Mignone F., Miyake S., Morris K., Mottagui-Tabar S., Mulder N., Nakano N.,
Nakauchi H., Ng P., Nilsson R., Nishiguchi S., Nishikawa S., Nori F.,
Ohara O., Okazaki Y., Orlando V., Pang K.C., Pavan W.J., Pavesi G.,
Pesole G., Petrovsky N., Piazza S., Reed J., Reid J.F., Ring B.Z.,
Ringwald M., Rost B., Ruan Y., Salzberg S.L., Sandelin A., Schneider C.,
Schoenbach C., Sekiguchi K., Semple C.A., Seno S., Sessa L., Sheng Y.,
Shibata Y., Shimada H., Shimada K., Silva D., Sinclair B., Sperling S.,
Stupka E., Sugiura K., Sultana R., Takenaka Y., Taki K., Tammoja K.,
Tan S.L., Tang S., Taylor M.S., Tegner J., Teichmann S.A., Ueda H.R.,
van Nimwegen E., Verardo R., Wei C.L., Yagi K., Yamanishi H.,
Zabarovsky E., Zhu S., Zimmer A., Hide W., Bult C., Grimmond S.M.,
Teasdale R.D., Liu E.T., Brusic V., Quackenbush J., Wahlestedt C.,
Mattick J.S., Hume D.A., Kai C., Sasaki D., Tomaru Y., Fukuda S.,
Kanamori-Katayama M., Suzuki M., Aoki J., Arakawa T., Iida J., Imamura K.,
Itoh M., Kato T., Kawaji H., Kawagashira N., Kawashima T., Kojima M.,
Kondo S., Konno H., Nakano K., Ninomiya N., Nishio T., Okada M., Plessy C.,
Shibata K., Shiraki T., Suzuki S., Tagami M., Waki K., Watahiki A.,
Okamura-Oho Y., Suzuki H., Kawai J., Hayashizaki Y.;
"The transcriptional landscape of the mammalian genome.";
Science 309:1559-1563(2005).
[4]
DISRUPTION PHENOTYPE.
PubMed=10854243; DOI=10.1046/j.1471-4159.2000.0750028.x;
Watanabe H., Nagata E., Kosakai A., Nakamura M., Yokoyama M., Tanaka K.,
Sasai H.;
"Disruption of the epilepsy KCNQ2 gene results in neural
hyperexcitability.";
J. Neurochem. 75:28-33(2000).
[5]
IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
TISSUE=Brain;
PubMed=16452087; DOI=10.1074/mcp.t500041-mcp200;
Trinidad J.C., Specht C.G., Thalhammer A., Schoepfer R., Burlingame A.L.;
"Comprehensive identification of phosphorylation sites in postsynaptic
density preparations.";
Mol. Cell. Proteomics 5:914-922(2006).
[6]
PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-438; SER-440; SER-444;
SER-448 AND SER-450, PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT TYR-831
(ISOFORM 12), PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT TYR-813 (ISOFORM
13), AND IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
TISSUE=Brain;
PubMed=21183079; DOI=10.1016/j.cell.2010.12.001;
Huttlin E.L., Jedrychowski M.P., Elias J.E., Goswami T., Rad R.,
Beausoleil S.A., Villen J., Haas W., Sowa M.E., Gygi S.P.;
"A tissue-specific atlas of mouse protein phosphorylation and expression.";
Cell 143:1174-1189(2010).
[7]
INTERACTION WITH IQCJ-SCHIP1.
PubMed=27979964; DOI=10.1074/jbc.m116.758029;
Martin P.M., Cifuentes-Diaz C., Devaux J., Garcia M., Bureau J.,
Thomasseau S., Klingler E., Girault J.A., Goutebroze L.;
"Schwannomin-interacting protein 1 isoform IQCJ-SCHIP1 is a multipartner
ankyrin- and spectrin-binding protein involved in the organization of nodes
of Ranvier.";
J. Biol. Chem. 292:2441-2456(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. {ECO:0000269|PubMed:12223552}.
-!- SUBUNIT: Heterotetramer with KCNQ3; form the heterotetrameric M
potassium channel (By similarity). Interacts with calmodulin; the
interaction is calcium-independent, constitutive and participates in
the proper assembly of a functional heterotetrameric M channel
(PubMed:12223552). May associate with KCNE2 (By similarity). Interacts
with IQCJ-SCHIP1 (PubMed:27979964). {ECO:0000250|UniProtKB:O43526,
ECO:0000269|PubMed:12223552, ECO:0000269|PubMed:27979964}.
-!- SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:12223552};
Multi-pass membrane protein {ECO:0000255}.
-!- ALTERNATIVE PRODUCTS:
Event=Alternative splicing; Named isoforms=13;
Name=1; Synonyms=MKQT2.1;
IsoId=Q9Z351-1; Sequence=Displayed;
Name=2; Synonyms=MKQT2.2;
IsoId=Q9Z351-2; Sequence=VSP_001001;
Name=3; Synonyms=MKQT2.3;
IsoId=Q9Z351-3; Sequence=VSP_001000;
Name=4; Synonyms=MKQT2.4;
IsoId=Q9Z351-4; Sequence=VSP_001002;
Name=5; Synonyms=MKQT2.5;
IsoId=Q9Z351-5; Sequence=VSP_001003, VSP_001004;
Name=6; Synonyms=MKQT2.6;
IsoId=Q9Z351-6; Sequence=VSP_001005, VSP_001006;
Name=7; Synonyms=MKQT2.7;
IsoId=Q9Z351-7; Sequence=VSP_000997, VSP_000998, VSP_000999;
Name=8; Synonyms=MKQT2.8;
IsoId=Q9Z351-8; Sequence=VSP_000998, VSP_000999;
Name=9; Synonyms=MKQT2.9;
IsoId=Q9Z351-9; Sequence=VSP_000993, VSP_000994;
Name=10; Synonyms=MKQT2.10;
IsoId=Q9Z351-10; Sequence=VSP_000995, VSP_000996;
Name=11; Synonyms=MKQT2.11;
IsoId=Q9Z351-11; Sequence=VSP_000991, VSP_000992;
Name=12;
IsoId=Q9Z351-12; Sequence=VSP_000997, VSP_012365, VSP_001002,
VSP_012366;
Name=13;
IsoId=Q9Z351-13; Sequence=VSP_000997, VSP_022637, VSP_012366;
-!- TISSUE SPECIFICITY: Exclusively expressed in the brain. Expressed in
every neuron-containing regions of the central nervous system examined,
such as the cerebellum, cerebral cortex, occipital pole, substantia
nigra, amygdala, caudate nucleus, hippocampus and thalamus. Also
detected in the cochlea.
-!- DEVELOPMENTAL STAGE: Detected at day 11, 15 and 17 of the embryonic
development. Expression increases by a factor of 2.5 at 1 week after
birth. Then the expression level remains stable until the adult stage.
The mRNAs for shorter forms (isoforms 9, 10 and 11) are specifically
expressed in an embryo on the 11th day after gestation.
-!- 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:0000250|UniProtKB:O43526}.
-!- PTM: KCNQ2/KCNQ3 are ubiquitinated by NEDD4L. Ubiquitination leads to
protein degradation. Degradation induced by NEDD4L is inhibited by
USP36. {ECO:0000250|UniProtKB:O43526}.
-!- DISRUPTION PHENOTYPE: Mice lacking Kcnq2 present no overt phenotype,
but die a few hours after birth of pulmonary atelectasis which is not
due to the status of epileptic seizures. {ECO:0000269|PubMed:10854243}.
-!- MISCELLANEOUS: [Isoform 6]: May be due to an intron retention.
{ECO:0000305}.
-!- MISCELLANEOUS: [Isoform 7]: May be due to an intron retention.
{ECO:0000305}.
-!- MISCELLANEOUS: [Isoform 8]: May be due to an intron retention.
{ECO:0000305}.
-!- MISCELLANEOUS: [Isoform 9]: May be due to an intron retention.
{ECO:0000305}.
-!- MISCELLANEOUS: [Isoform 10]: May be due to an intron retention.
{ECO:0000305}.
-!- MISCELLANEOUS: [Isoform 11]: May be due to an intron retention.
{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; AB000494; BAA37156.1; -; mRNA.
EMBL; AB000495; BAA37157.1; -; mRNA.
EMBL; AB000496; BAA37158.1; -; mRNA.
EMBL; AB000497; BAA37159.1; -; mRNA.
EMBL; AB000498; BAA37160.1; -; mRNA.
EMBL; AB000499; BAA37161.1; -; mRNA.
EMBL; AB000500; BAA37162.1; -; mRNA.
EMBL; AB000501; BAA37163.1; -; mRNA.
EMBL; AB000502; BAA37164.1; -; mRNA.
EMBL; AB000503; BAA37165.1; -; mRNA.
EMBL; AB000504; BAA37166.1; -; mRNA.
EMBL; AF490773; AAM09696.1; -; mRNA.
EMBL; AK139411; BAE24000.1; -; mRNA.
CCDS; CCDS17193.1; -. [Q9Z351-1]
CCDS; CCDS17194.1; -. [Q9Z351-2]
CCDS; CCDS17195.1; -. [Q9Z351-3]
CCDS; CCDS17196.1; -. [Q9Z351-4]
CCDS; CCDS17197.1; -. [Q9Z351-5]
CCDS; CCDS17198.1; -. [Q9Z351-12]
RefSeq; NP_001006675.1; NM_001006674.2.
RefSeq; NP_001289817.1; NM_001302888.1.
RefSeq; NP_034741.2; NM_010611.3.
SMR; Q9Z351; -.
BioGRID; 200918; 14.
CORUM; Q9Z351; -.
IntAct; Q9Z351; 3.
STRING; 10090.ENSMUSP00000122915; -.
BindingDB; Q9Z351; -.
ChEMBL; CHEMBL2985; -.
DrugCentral; Q9Z351; -.
iPTMnet; Q9Z351; -.
PhosphoSitePlus; Q9Z351; -.
PRIDE; Q9Z351; -.
ProteomicsDB; 263404; -. [Q9Z351-1]
ProteomicsDB; 263405; -. [Q9Z351-2]
ProteomicsDB; 263406; -. [Q9Z351-3]
ProteomicsDB; 263407; -. [Q9Z351-4]
ProteomicsDB; 263408; -. [Q9Z351-5]
ProteomicsDB; 263409; -. [Q9Z351-6]
ProteomicsDB; 263410; -. [Q9Z351-7]
ProteomicsDB; 263411; -. [Q9Z351-8]
ProteomicsDB; 263412; -. [Q9Z351-9]
ProteomicsDB; 263413; -. [Q9Z351-10]
ProteomicsDB; 263414; -. [Q9Z351-11]
ProteomicsDB; 263415; -. [Q9Z351-12]
ProteomicsDB; 263416; -. [Q9Z351-13]
ABCD; Q9Z351; 1 sequenced antibody.
DNASU; 16536; -.
GeneID; 16536; -.
KEGG; mmu:16536; -.
UCSC; uc008olg.2; mouse. [Q9Z351-11]
CTD; 3785; -.
MGI; MGI:1309503; Kcnq2.
eggNOG; KOG1419; Eukaryota.
InParanoid; Q9Z351; -.
OrthoDB; 1168835at2759; -.
Reactome; R-MMU-1296072; Voltage gated Potassium channels.
BioGRID-ORCS; 16536; 1 hit in 62 CRISPR screens.
PRO; PR:Q9Z351; -.
Proteomes; UP000000589; Unplaced.
RNAct; Q9Z351; protein.
GO; GO:0043194; C:axon initial segment; IDA:BHF-UCL.
GO; GO:0009986; C:cell surface; IDA:MGI.
GO; GO:0016021; C:integral component of membrane; IBA:GO_Central.
GO; GO:0005887; C:integral component of plasma membrane; ISO:MGI.
GO; GO:0033268; C:node of Ranvier; IDA:BHF-UCL.
GO; GO:0005886; C:plasma membrane; IDA:BHF-UCL.
GO; GO:0032991; C:protein-containing complex; ISO:MGI.
GO; GO:0008076; C:voltage-gated potassium channel complex; IGI:MGI.
GO; GO:0030506; F:ankyrin binding; ISO:MGI.
GO; GO:0005516; F:calmodulin binding; IPI:MGI.
GO; GO:0005251; F:delayed rectifier potassium channel activity; IBA:GO_Central.
GO; GO:0047485; F:protein N-terminus binding; ISO:MGI.
GO; GO:0005244; F:voltage-gated ion channel activity; IGI:MGI.
GO; GO:0005249; F:voltage-gated potassium channel activity; ISS:UniProtKB.
GO; GO:0071805; P:potassium ion transmembrane transport; ISS:UniProtKB.
GO; GO:0034765; P:regulation of ion transmembrane transport; IEA:UniProtKB-KW.
GO; GO:0019226; P:transmission of nerve impulse; IMP:MGI.
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; 2.
PRINTS; PR01461; KCNQ2CHANNEL.
PRINTS; PR01459; KCNQCHANNEL.
1: Evidence at protein level;
Alternative splicing; Cell membrane; Ion channel; Ion transport; Membrane;
Phosphoprotein; Potassium; Potassium channel; Potassium transport;
Reference proteome; Transmembrane; Transmembrane helix; Transport;
Ubl conjugation; Voltage-gated channel.
CHAIN 1..759
/note="Potassium voltage-gated channel subfamily KQT member
2"
/id="PRO_0000054031"
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..197
/note="Extracellular"
/evidence="ECO:0000255"
TRANSMEM 198..221
/note="Helical; Voltage-sensor; Name=Segment S4"
/evidence="ECO:0000255"
TOPO_DOM 222..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..759
/note="Cytoplasmic"
/evidence="ECO:0000255"
REGION 317..512
/note="Mediates interaction with calmodulin"
/evidence="ECO:0000250|UniProtKB:O43526"
REGION 393..412
/note="Disordered"
/evidence="ECO:0000256|SAM:MobiDB-lite"
REGION 419..459
/note="Disordered"
/evidence="ECO:0000256|SAM:MobiDB-lite"
REGION 565..628
/note="Disordered"
/evidence="ECO:0000256|SAM:MobiDB-lite"
REGION 705..742
/note="Disordered"
/evidence="ECO:0000256|SAM:MobiDB-lite"
MOTIF 277..282
/note="Selectivity filter"
/evidence="ECO:0000250"
COMPBIAS 431..459
/note="Polar residues"
/evidence="ECO:0000256|SAM:MobiDB-lite"
COMPBIAS 604..620
/note="Basic and acidic residues"
/evidence="ECO:0000256|SAM:MobiDB-lite"
COMPBIAS 722..737
/note="Polar residues"
/evidence="ECO:0000256|SAM:MobiDB-lite"
MOD_RES 52
/note="Phosphoserine; by PKA"
/evidence="ECO:0000250|UniProtKB:O43526"
MOD_RES 438
/note="Phosphoserine"
/evidence="ECO:0007744|PubMed:21183079"
MOD_RES 440
/note="Phosphoserine"
/evidence="ECO:0007744|PubMed:21183079"
MOD_RES 444
/note="Phosphoserine"
/evidence="ECO:0007744|PubMed:21183079"
MOD_RES 448
/note="Phosphoserine"
/evidence="ECO:0007744|PubMed:21183079"
MOD_RES 450
/note="Phosphoserine"
/evidence="ECO:0007744|PubMed:21183079"
MOD_RES 479
/note="Phosphoserine"
/evidence="ECO:0000250|UniProtKB:O88943"
MOD_RES 681
/note="Phosphoserine"
/evidence="ECO:0000250|UniProtKB:O88943"
VAR_SEQ 310..338
/note="GILGSGFALKVQEQHRPKHFEKRRNPAAG -> VSPAHLPTLEMLGVLEAPH
KAWPWPTCEL (in isoform 11)"
/evidence="ECO:0000303|PubMed:9666519"
/id="VSP_000991"
VAR_SEQ 339..759
/note="Missing (in isoform 11)"
/evidence="ECO:0000303|PubMed:9666519"
/id="VSP_000992"
VAR_SEQ 342..349
/note="SAWRFYAT -> GQVRCAGH (in isoform 9)"
/evidence="ECO:0000303|PubMed:9666519"
/id="VSP_000993"
VAR_SEQ 342..347
/note="SAWRFY -> VSLSPC (in isoform 10)"
/evidence="ECO:0000303|PubMed:9666519"
/id="VSP_000995"
VAR_SEQ 348..759
/note="Missing (in isoform 10)"
/evidence="ECO:0000303|PubMed:9666519"
/id="VSP_000996"
VAR_SEQ 350..759
/note="Missing (in isoform 9)"
/evidence="ECO:0000303|PubMed:9666519"
/id="VSP_000994"
VAR_SEQ 372
/note="Y -> YSSQTQTYGAS (in isoform 7, isoform 12 and
isoform 13)"
/evidence="ECO:0000303|PubMed:12223552,
ECO:0000303|PubMed:16141072, ECO:0000303|PubMed:9666519"
/id="VSP_000997"
VAR_SEQ 406..463
/note="SQKVSLKDRVFSSPRGMAAKGKGSPQAQTVRRSPSADQSLDDSPSKVPKSWS
FGDRSR -> RSVPPASSRPGVCCTHLALLSLCIHHVSWGRATMGPCVCFYVQQVTVCP
GTPRVTSQL (in isoform 7 and isoform 8)"
/evidence="ECO:0000303|PubMed:9666519"
/id="VSP_000998"
VAR_SEQ 406
/note="S -> SKGRPCRGCLCGCCPGHSS (in isoform 12)"
/evidence="ECO:0000303|PubMed:12223552"
/id="VSP_012365"
VAR_SEQ 407..418
/note="Missing (in isoform 3)"
/evidence="ECO:0000303|PubMed:9666519"
/id="VSP_001000"
VAR_SEQ 464..759
/note="Missing (in isoform 7 and isoform 8)"
/evidence="ECO:0000303|PubMed:9666519"
/id="VSP_000999"
VAR_SEQ 562..623
/note="IDMIVGPPPPSTPRDKKYPTKGPTAPSRESPQYSPRVDHIVGRGPTITDKDR
TKGPAETELP -> QEPLPVQSGHEQGPPGQNQAWHKGHQGLGDRCAEQGQYQLWRSLP
TLLASCCFLLCFHTVCF (in isoform 6)"
/evidence="ECO:0000303|PubMed:9666519"
/id="VSP_001005"
VAR_SEQ 562..597
/note="Missing (in isoform 4 and isoform 12)"
/evidence="ECO:0000303|PubMed:12223552,
ECO:0000303|PubMed:9666519"
/id="VSP_001002"
VAR_SEQ 562..596
/note="IDMIVGPPPPSTPRDKKYPTKGPTAPSRESPQYSP -> QEPLPVQSGHEQG
PPGQNQAWHKGHQGLGD (in isoform 2)"
/evidence="ECO:0000303|PubMed:9666519"
/id="VSP_001001"
VAR_SEQ 562..570
/note="IDMIVGPPP -> SCDWRGVLA (in isoform 5)"
/evidence="ECO:0000303|PubMed:9666519"
/id="VSP_001003"
VAR_SEQ 571..759
/note="Missing (in isoform 5)"
/evidence="ECO:0000303|PubMed:9666519"
/id="VSP_001004"
VAR_SEQ 571..606
/note="Missing (in isoform 13)"
/evidence="ECO:0000303|PubMed:16141072"
/id="VSP_022637"
VAR_SEQ 624..759
/note="Missing (in isoform 6)"
/evidence="ECO:0000303|PubMed:9666519"
/id="VSP_001006"
VAR_SEQ 747..759
/note="LRLERSAGMMSCH -> RIPPPPAHERSLSAYGGGNRASTEFLRLEGTPACR
PSEAALRDSDTSISIPSVDHEELERSFSGFSISQSKENLDALGSCYAAVAPCAKVRPYI
AEGESDTDSDLCTPCGPPPRSATGEGPFGDVAWAGPRK (in isoform 12 and
isoform 13)"
/evidence="ECO:0000303|PubMed:12223552,
ECO:0000303|PubMed:16141072"
/id="VSP_012366"
MUTAGEN 345
/note="R->E: Loss of interaction with calmodulin."
/evidence="ECO:0000269|PubMed:12223552"
MUTAGEN 525
/note="K->E: Loss of interaction with calmodulin; when
associated with E-526."
/evidence="ECO:0000269|PubMed:12223552"
MUTAGEN 526
/note="R->E: Loss of interaction with calmodulin; when
associated with E-525."
/evidence="ECO:0000269|PubMed:12223552"
CONFLICT 125
/note="A -> P (in Ref. 1; BAA37161)"
/evidence="ECO:0000305"
CONFLICT 326
/note="P -> Q (in Ref. 1; BAA37160/BAA37165 and 2;
AAM09696)"
/evidence="ECO:0000305"
CONFLICT 600
/note="H -> Q (in Ref. 2; AAM09696)"
/evidence="ECO:0000305"
MOD_RES Q9Z351-12:831
/note="Phosphotyrosine"
/evidence="ECO:0007744|PubMed:21183079"
MOD_RES Q9Z351-13:813
/note="Phosphotyrosine"
/evidence="ECO:0007744|PubMed:21183079"
SEQUENCE 759 AA; 84450 MW; C1D12DBFF3979D3F CRC64;
MVQKSRNGGV YPGTSGEKKL KVGFVGLDPG APDSTRDGAL LIAGSEAPKR GSVLSKPRTG
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 QEQHRPKHFE KRRNPAAGLI QSAWRFYATN LSRTDLHSTW
QYYERTVTVP MYRLIPPLNQ LELLRNLKSK SGLTFRKEPQ PEPSPSQKVS LKDRVFSSPR
GMAAKGKGSP QAQTVRRSPS ADQSLDDSPS KVPKSWSFGD RSRTRQAFRI KGAASRQNSE
EASLPGEDIV EDNKSCNCEF VTEDLTPGLK VSIRAVCVMR FLVSKRKFKE SLRPYDVMDV
IEQYSAGHLD MLSRIKSLQS RIDMIVGPPP PSTPRDKKYP TKGPTAPSRE SPQYSPRVDH
IVGRGPTITD KDRTKGPAET ELPEDPSMMG RLGKVEKQVL SMEKKLDFLV SIYTQRMGIP
PAETEAYFGA KEPEPAPPYH SPEDSRDHAD KHGCIIKIVR STSSTGQRNY AAPPAIPPAQ
CPPSTSWQQS HQRHGTSPVG DHGSLVLRLE RSAGMMSCH


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WP1566: Citrate cycle (TCA cycle)
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WP1655: Geraniol degradation
WP1644: DNA replication
WP1671: Methane metabolism
WP2292: Chemokine signaling pathway
WP1693: Purine metabolism
WP1718: Vitamin B6 metabolism
WP1634: Butanoate metabolism
WP1663: Homologous recombination
WP2272: Pathogenic Escherichia coli infection
WP1680: Oxidative phosphorylation
WP1711: Trinitrotoluene degradation
WP1626: Benzoate degradation via CoA ligation
WP1672: Mismatch repair
WP1694: Pyrimidine metabolism
WP1904: RIG-I/MDA5 mediated induction of IFN-alpha/beta pathways
WP1618: alpha-Linolenic acid metabolism
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WP1003: Ovarian Infertility Genes
WP34: Ovarian Infertility Genes
WP1163: TNF-alpha NF-kB Signaling Pathway
WP2100: AhR pathway
WP457: TNF-alpha NF-kB Signaling Pathway

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)
[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)
[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)
[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)
[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)
[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)
[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)
[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)
[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)
[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)
[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)
[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) (hERG-2) (hERG2) (Voltage-gated potassium channel subunit Kv11.2)
[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)
[Kcnb1] Potassium voltage-gated channel subfamily B member 1 (Delayed rectifier potassium channel 1) (DRK1) (Voltage-gated potassium channel subunit Kv2.1)
[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 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)
[KCNH5 EAG2] Potassium voltage-gated channel subfamily H member 5 (Ether-a-go-go potassium channel 2) (hEAG2) (Voltage-gated potassium channel subunit Kv10.2)
[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)
[Kcnh2 Erg] 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) (RERG) (r-ERG) (Voltage-gated potassium channel subunit Kv11.1)
[KCNB1] Potassium voltage-gated channel subfamily B member 1 (Delayed rectifier potassium channel 1) (DRK1) (Voltage-gated potassium channel subunit Kv2.1)
[Kcna6] Potassium voltage-gated channel subfamily A member 6 (RCK2) (Voltage-gated potassium channel subunit Kv1.6) (Voltage-gated potassium channel subunit Kv2)
[KCNH2 CERG ERG] Potassium voltage-gated channel subfamily H member 2 (Ether-a-go-go-related gene potassium channel 1) (DERG) (ERG-1) (Eag-related protein 1) (Ether-a-go-go-related protein 1) (c-ERG) (Voltage-gated potassium channel subunit Kv11.1)

Bibliography :