UniProtKB - O43526 (KCNQ2_HUMAN)
Potassium voltage-gated channel subfamily KQT member 2
KCNQ2
Functioni
Miscellaneous
GO - Molecular functioni
- ankyrin binding Source: BHF-UCL
- calmodulin binding Source: UniProtKB
- delayed rectifier potassium channel activity Source: GO_Central
- voltage-gated potassium channel activity Source: UniProtKB
GO - Biological processi
- chemical synaptic transmission Source: ProtInc
- nervous system development Source: ProtInc
- potassium ion transmembrane transport Source: UniProtKB
- regulation of ion transmembrane transport Source: UniProtKB-KW
Keywordsi
Molecular function | Ion channel, Potassium channel, Voltage-gated channel |
Biological process | Ion transport, Potassium transport, Transport |
Ligand | Potassium |
Enzyme and pathway databases
PathwayCommonsi | O43526 |
Reactomei | R-HSA-1296072, Voltage gated Potassium channels R-HSA-445095, Interaction between L1 and Ankyrins |
SIGNORi | O43526 |
Protein family/group databases
TCDBi | 1.A.1.15.2, the voltage-gated ion channel (vic) superfamily |
Names & Taxonomyi
Protein namesi | Recommended name: Potassium voltage-gated channel subfamily KQT member 2CuratedAlternative name(s): KQT-like 2 Neuroblastoma-specific potassium channel subunit alpha KvLQT2 Voltage-gated potassium channel subunit Kv7.2 |
Gene namesi | Name:KCNQ2Imported |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:6296, KCNQ2 |
MIMi | 602235, gene |
neXtProti | NX_O43526 |
VEuPathDBi | HostDB:ENSG00000075043.17 |
Subcellular locationi
Plasma membrane
- Cell membrane 2 Publications; Multi-pass membrane protein Sequence analysis
Plasma Membrane
- integral component of plasma membrane Source: UniProtKB
- plasma membrane Source: BHF-UCL
- voltage-gated potassium channel complex Source: UniProtKB
Other locations
- axon initial segment Source: BHF-UCL
- integral component of membrane Source: GO_Central
- node of Ranvier Source: BHF-UCL
- synapse Source: GOC
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 1 – 91 | CytoplasmicSequence analysisAdd BLAST | 91 | |
Transmembranei | 92 – 112 | Helical; Name=Segment S1Sequence analysisAdd BLAST | 21 | |
Topological domaini | 113 – 122 | ExtracellularSequence analysis | 10 | |
Transmembranei | 123 – 143 | Helical; Name=Segment S2Sequence analysisAdd BLAST | 21 | |
Topological domaini | 144 – 166 | CytoplasmicSequence analysisAdd BLAST | 23 | |
Transmembranei | 167 – 187 | Helical; Name=Segment S3Sequence analysisAdd BLAST | 21 | |
Topological domaini | 188 – 195 | ExtracellularSequence analysis | 8 | |
Transmembranei | 196 – 218 | Helical; Voltage-sensor; Name=Segment S4Sequence analysisAdd BLAST | 23 | |
Topological domaini | 219 – 231 | CytoplasmicSequence analysisAdd BLAST | 13 | |
Transmembranei | 232 – 252 | Helical; Name=Segment S5Sequence analysisAdd BLAST | 21 | |
Topological domaini | 253 – 264 | ExtracellularSequence analysisAdd BLAST | 12 | |
Intramembranei | 265 – 285 | Pore-forming; Name=Segment H5Sequence analysisAdd BLAST | 21 | |
Topological domaini | 286 – 291 | ExtracellularSequence analysis | 6 | |
Transmembranei | 292 – 312 | Helical; Name=Segment S6Sequence analysisAdd BLAST | 21 | |
Topological domaini | 313 – 872 | CytoplasmicSequence analysisAdd BLAST | 560 |
Keywords - Cellular componenti
Cell membrane, MembranePathology & Biotechi
Involvement in diseasei
Seizures, benign familial neonatal 1 (BFNS1)8 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_078658 | 114 | T → A in BFNS1. 1 PublicationCorresponds to variant dbSNP:rs1057516076EnsemblClinVar. | 1 | |
Natural variantiVAR_078659 | 154 | Y → D in BFNS1; with infantile seizures. 1 PublicationCorresponds to variant dbSNP:rs1057516078EnsemblClinVar. | 1 | |
Natural variantiVAR_078660 | 159 | G → E in BFNS1. 1 PublicationCorresponds to variant dbSNP:rs1057516081EnsemblClinVar. | 1 | |
Natural variantiVAR_078661 | 159 | G → R in BFNS1. 1 PublicationCorresponds to variant dbSNP:rs1057516080EnsemblClinVar. | 1 | |
Natural variantiVAR_078662 | 196 | A → V in BFNS1; with infantile seizures. 1 PublicationCorresponds to variant dbSNP:rs118192199EnsemblClinVar. | 1 | |
Natural variantiVAR_078664 | 204 – 872 | Missing in BFNS1. 1 PublicationAdd BLAST | 669 | |
Natural variantiVAR_026987 | 207 | R → W in BFNS1; phenotype manifestations include myokymia in some patients; leads to a shift of voltage-dependent activation of the channel and a dramatic slowing of activation upon depolarization. 1 PublicationCorresponds to variant dbSNP:rs74315391EnsemblClinVar. | 1 | |
Natural variantiVAR_026988 | 208 | M → V in BFNS1; minor effect on maximal current but clearly exhibits a faster rate of deactivation. 1 PublicationCorresponds to variant dbSNP:rs118192201EnsemblClinVar. | 1 | |
Natural variantiVAR_078666 | 213 | R → Q in BFNS1 and EIEE7. 2 PublicationsCorresponds to variant dbSNP:rs397514581Ensembl. | 1 | |
Natural variantiVAR_078667 | 213 | R → W in BFNS1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs118192203EnsemblClinVar. | 1 | |
Natural variantiVAR_010929 | 214 | R → W in BFNS1. 1 PublicationCorresponds to variant dbSNP:rs28939684EnsemblClinVar. | 1 | |
Natural variantiVAR_078668 | 217 | T → A in BFNS1; also in patients with infantile seizures. 1 PublicationCorresponds to variant dbSNP:rs1057516089EnsemblClinVar. | 1 | |
Natural variantiVAR_026989 | 228 | H → Q in BFNS1. 1 PublicationCorresponds to variant dbSNP:rs118192204EnsemblClinVar. | 1 | |
Natural variantiVAR_026990 | 243 | L → F in BFNS1. 1 PublicationCorresponds to variant dbSNP:rs118192205EnsemblClinVar. | 1 | |
Natural variantiVAR_010930 | 284 | Y → C in BFNS1; 30%-60% reduction of wt current in heteromeric channels. 3 PublicationsCorresponds to variant dbSNP:rs28939683EnsemblClinVar. | 1 | |
Natural variantiVAR_010931 | 306 | A → T in BFNS1 and EIEE7; 20%-40% reduction of wt current in heteromeric channels. 4 PublicationsCorresponds to variant dbSNP:rs74315390EnsemblClinVar. | 1 | |
Natural variantiVAR_026992 | 333 | R → Q in BFNS1; moderate effect; less than 50% reduction in current compared with wt heteromeric channels. 1 PublicationCorresponds to variant dbSNP:rs118192216EnsemblClinVar. | 1 | |
Natural variantiVAR_078671 | 353 | R → G in BFNS1. 1 PublicationCorresponds to variant dbSNP:rs118192218EnsemblClinVar. | 1 | |
Natural variantiVAR_078672 | 358 | S → F in BFNS1. 1 PublicationCorresponds to variant dbSNP:rs1057516110EnsemblClinVar. | 1 | |
Natural variantiVAR_078673 | 448 – 872 | Missing in BFNS1; with infantile seizures. 2 PublicationsAdd BLAST | 425 | |
Natural variantiVAR_078674 | 547 | R → W in BFNS1. 1 PublicationCorresponds to variant dbSNP:rs796052650EnsemblClinVar. | 1 | |
Natural variantiVAR_026993 | 554 | K → N in BFNS1 and EIEE7; decreases the voltage-dependence of the channel. 1 PublicationCorresponds to variant dbSNP:rs267607198EnsemblClinVar. | 1 | |
Natural variantiVAR_078677 | 578 | M → V in BFNS1. 1 PublicationCorresponds to variant dbSNP:rs1057516123EnsemblClinVar. | 1 | |
Natural variantiVAR_078678 | 581 – 872 | Missing in BFNS1. 2 PublicationsAdd BLAST | 292 | |
Natural variantiVAR_078679 | 588 | R → S in BFNS1. 1 PublicationCorresponds to variant dbSNP:rs118192237EnsemblClinVar. | 1 | |
Natural variantiVAR_078680 | 637 | L → R in BFNS1. 1 PublicationCorresponds to variant dbSNP:rs118192240EnsemblClinVar. | 1 |
Epileptic encephalopathy, early infantile, 7 (EIEE7)8 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_078663 | 201 | R → C in EIEE7; gain-of-function mutation; results in loss of voltage-dependent channel gating and highly increased potassium currents. 2 PublicationsCorresponds to variant dbSNP:rs796052623EnsemblClinVar. | 1 | |
Natural variantiVAR_078665 | 210 | R → C in EIEE7. 1 PublicationCorresponds to variant dbSNP:rs796052626EnsemblClinVar. | 1 | |
Natural variantiVAR_078666 | 213 | R → Q in BFNS1 and EIEE7. 2 PublicationsCorresponds to variant dbSNP:rs397514581Ensembl. | 1 | |
Natural variantiVAR_078669 | 234 | T → P in EIEE7. 1 PublicationCorresponds to variant dbSNP:rs1057516091EnsemblClinVar. | 1 | |
Natural variantiVAR_026991 | 247 | S → W in EIEE7; reduces channel currents by more than 50% in homomeric channels. 1 PublicationCorresponds to variant dbSNP:rs74315392EnsemblClinVar. | 1 | |
Natural variantiVAR_078207 | 266 | D → E in EIEE7; patient also manifests dyskinesia. 1 PublicationCorresponds to variant dbSNP:rs1057519536EnsemblClinVar. | 1 | |
Natural variantiVAR_078208 | 268 | L → F in EIEE7. 1 PublicationCorresponds to variant dbSNP:rs1057516094EnsemblClinVar. | 1 | |
Natural variantiVAR_078670 | 276 | T → I in EIEE7. 1 PublicationCorresponds to variant dbSNP:rs1057516095EnsemblClinVar. | 1 | |
Natural variantiVAR_078209 | 291 | R → S in EIEE7. 1 PublicationCorresponds to variant dbSNP:rs1057519535EnsemblClinVar. | 1 | |
Natural variantiVAR_078210 | 294 | A → V in EIEE7. 1 PublicationCorresponds to variant dbSNP:rs118192211Ensembl. | 1 | |
Natural variantiVAR_078211 | 301 | G → S in EIEE7. 1 PublicationCorresponds to variant dbSNP:rs1057516099EnsemblClinVar. | 1 | |
Natural variantiVAR_010931 | 306 | A → T in BFNS1 and EIEE7; 20%-40% reduction of wt current in heteromeric channels. 4 PublicationsCorresponds to variant dbSNP:rs74315390EnsemblClinVar. | 1 | |
Natural variantiVAR_026993 | 554 | K → N in BFNS1 and EIEE7; decreases the voltage-dependence of the channel. 1 PublicationCorresponds to variant dbSNP:rs267607198EnsemblClinVar. | 1 | |
Natural variantiVAR_078675 | 561 | P → S in EIEE7. 1 Publication | 1 | |
Natural variantiVAR_078676 | 578 – 579 | ML → IM in EIEE7. 1 PublicationCorresponds to variant dbSNP:rs796052665Ensembl. | 2 | |
Natural variantiVAR_078212 | 581 | R → Q in EIEE7. 1 PublicationCorresponds to variant dbSNP:rs118192235EnsemblClinVar. | 1 |
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 52 | S → E: 40% increase in potassium current amplitude. Ratio of 1:1. 1 Publication | 1 | |
Mutagenesisi | 52 | S → Q: Decrease of PKA stimulation. Ratio of 1:1. 1 Publication | 1 | |
Mutagenesisi | 217 | T → A: No effect on current or expression. 1 Publication | 1 | |
Mutagenesisi | 217 | T → D: Abolishes currents without reducing channel protein expression. 1 Publication | 1 | |
Mutagenesisi | 279 | G → S: More than 50% reduction of wt heteromeric current. Ratio of 1:1 and 1:1:2. 1 Publication | 1 |
Keywords - Diseasei
Disease variant, Epilepsy, Mental retardationOrganism-specific databases
DisGeNETi | 3785 |
GeneReviewsi | KCNQ2 |
MalaCardsi | KCNQ2 |
MIMi | 121200, phenotype 613720, phenotype |
OpenTargetsi | ENSG00000075043 |
Orphaneti | 306, Benign familial infantile epilepsy 1949, Benign familial neonatal epilepsy 140927, Benign familial neonatal-infantile seizures 439218, KCNQ2-related epileptic encephalopathy |
PharmGKBi | PA30074 |
Miscellaneous databases
Pharosi | O43526, Tclin |
Chemistry databases
ChEMBLi | CHEMBL2476 |
DrugBanki | DB00321, Amitriptyline DB00586, Diclofenac DB00228, Enflurane DB04953, Ezogabine DB06089, ICA-105665 DB00939, Meclofenamic acid DB01110, Miconazole DB01069, Promethazine |
DrugCentrali | O43526 |
GuidetoPHARMACOLOGYi | 561 |
Genetic variation databases
BioMutai | KCNQ2 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000054030 | 1 – 872 | Potassium voltage-gated channel subfamily KQT member 2Add BLAST | 872 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 52 | Phosphoserine; by PKA1 Publication | 1 | |
Modified residuei | 217 | Phosphothreonine1 Publication | 1 | |
Modified residuei | 466 | PhosphoserineBy similarity | 1 | |
Modified residuei | 468 | PhosphoserineBy similarity | 1 | |
Modified residuei | 472 | PhosphoserineBy similarity | 1 | |
Modified residuei | 476 | PhosphoserineBy similarity | 1 | |
Modified residuei | 478 | PhosphoserineBy similarity | 1 | |
Modified residuei | 507 | PhosphoserineBy similarity | 1 | |
Modified residuei | 672 | PhosphoserineBy similarity | 1 | |
Modified residuei | 801 | PhosphoserineBy similarity | 1 | |
Modified residuei | 803 | PhosphoserineBy similarity | 1 |
Post-translational modificationi
Keywords - PTMi
Phosphoprotein, Ubl conjugationProteomic databases
jPOSTi | O43526 |
MassIVEi | O43526 |
PaxDbi | O43526 |
PeptideAtlasi | O43526 |
PRIDEi | O43526 |
ProteomicsDBi | 49031 [O43526-1] 49032 [O43526-2] 49033 [O43526-3] 49034 [O43526-4] 49035 [O43526-5] 49036 [O43526-6] |
PTM databases
iPTMneti | O43526 |
PhosphoSitePlusi | O43526 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSG00000075043, Expressed in right hemisphere of cerebellum and 127 other tissues |
ExpressionAtlasi | O43526, baseline and differential |
Genevisiblei | O43526, HS |
Organism-specific databases
HPAi | ENSG00000075043, Tissue enriched (brain) |
Interactioni
Subunit structurei
Heterotetramer with KCNQ3; form the heterotetrameric M potassium channel (PubMed:9836639, PubMed:27564677).
Interacts with calmodulin; the interaction is calcium-independent, constitutive and participates in the proper assembly of a functional heterotetrameric M channel (PubMed:27564677). May associate with KCNE2 (PubMed:11034315).
Interacts with IQCJ-SCHIP1 (By similarity).
By similarity3 PublicationsGO - Molecular functioni
- ankyrin binding Source: BHF-UCL
- calmodulin binding Source: UniProtKB
Protein-protein interaction databases
BioGRIDi | 109986, 8 interactors |
CORUMi | O43526 |
IntActi | O43526, 3 interactors |
STRINGi | 9606.ENSP00000352035 |
Chemistry databases
BindingDBi | O43526 |
Miscellaneous databases
RNActi | O43526, protein |
Structurei
Secondary structure
3D structure databases
SMRi | O43526 |
ModBasei | Search... |
PDBe-KBi | Search... |
Family & Domainsi
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 317 – 539 | Mediates interaction with calmodulin1 PublicationAdd BLAST | 223 |
Motif
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Motifi | 277 – 282 | Selectivity filterBy similarity | 6 |
Domaini
Sequence similaritiesi
Keywords - Domaini
Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG1419, Eukaryota |
GeneTreei | ENSGT00940000160093 |
HOGENOMi | CLU_011722_1_6_1 |
InParanoidi | O43526 |
OMAi | QHQAYQR |
OrthoDBi | 1168835at2759 |
PhylomeDBi | O43526 |
TreeFami | TF315186 |
Family and domain databases
InterProi | View protein in InterPro IPR020969, Ankyrin-G_BS IPR005821, Ion_trans_dom IPR003937, K_chnl_volt-dep_KCNQ IPR003947, K_chnl_volt-dep_KCNQ2 IPR013821, K_chnl_volt-dep_KCNQ_C IPR028325, VG_K_chnl |
PANTHERi | PTHR11537, PTHR11537, 1 hit PTHR11537:SF6, PTHR11537:SF6, 1 hit |
Pfami | View protein in Pfam PF00520, Ion_trans, 1 hit PF03520, KCNQ_channel, 1 hit PF11956, KCNQC3-Ank-G_bd, 1 hit |
PRINTSi | PR01461, KCNQ2CHANNEL PR01459, KCNQCHANNEL |
s (6+)i Sequence
Sequence statusi: Complete.
This entry describes 6 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 6 described isoforms and 20 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MVQKSRNGGV YPGPSGEKKL KVGFVGLDPG APDSTRDGAL LIAGSEAPKR
60 70 80 90 100
GSILSKPRAG GAGAGKPPKR NAFYRKLQNF LYNVLERPRG WAFIYHAYVF
110 120 130 140 150
LLVFSCLVLS VFSTIKEYEK SSEGALYILE IVTIVVFGVE YFVRIWAAGC
160 170 180 190 200
CCRYRGWRGR LKFARKPFCV IDIMVLIASI AVLAAGSQGN VFATSALRSL
210 220 230 240 250
RFLQILRMIR MDRRGGTWKL LGSVVYAHSK ELVTAWYIGF LCLILASFLV
260 270 280 290 300
YLAEKGENDH FDTYADALWW GLITLTTIGY GDKYPQTWNG RLLAATFTLI
310 320 330 340 350
GVSFFALPAG ILGSGFALKV QEQHRQKHFE KRRNPAAGLI QSAWRFYATN
360 370 380 390 400
LSRTDLHSTW QYYERTVTVP MYSSQTQTYG ASRLIPPLNQ LELLRNLKSK
410 420 430 440 450
SGLAFRKDPP PEPSPSKGSP CRGPLCGCCP GRSSQKVSLK DRVFSSPRGV
460 470 480 490 500
AAKGKGSPQA QTVRRSPSAD QSLEDSPSKV PKSWSFGDRS RARQAFRIKG
510 520 530 540 550
AASRQNSEEA SLPGEDIVDD KSCPCEFVTE DLTPGLKVSI RAVCVMRFLV
560 570 580 590 600
SKRKFKESLR PYDVMDVIEQ YSAGHLDMLS RIKSLQSRVD QIVGRGPAIT
610 620 630 640 650
DKDRTKGPAE AELPEDPSMM GRLGKVEKQV LSMEKKLDFL VNIYMQRMGI
660 670 680 690 700
PPTETEAYFG AKEPEPAPPY HSPEDSREHV DRHGCIVKIV RSSSSTGQKN
710 720 730 740 750
FSAPPAAPPV QCPPSTSWQP QSHPRQGHGT SPVGDHGSLV RIPPPPAHER
760 770 780 790 800
SLSAYGGGNR ASMEFLRQED TPGCRPPEGN LRDSDTSISI PSVDHEELER
810 820 830 840 850
SFSGFSISQS KENLDALNSC YAAVAPCAKV RPYIAEGESD TDSDLCTPCG
860 870
PPPRSATGEG PFGDVGWAGP RK
The sequence of this isoform differs from the canonical sequence as follows:
373-382: Missing.
417-434: Missing.
Computationally mapped potential isoform sequencesi
There are 20 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketA0A1B0GW14 | A0A1B0GW14_HUMAN | Potassium voltage-gated channel sub... | KCNQ2 | 671 | Annotation score: | ||
A0A0G2JQC9 | A0A0G2JQC9_HUMAN | Potassium voltage-gated channel sub... | KCNQ2 | 380 | Annotation score: | ||
A0A0G2JQG6 | A0A0G2JQG6_HUMAN | Potassium voltage-gated channel sub... | KCNQ2 | 370 | Annotation score: | ||
A0A0G2JR54 | A0A0G2JR54_HUMAN | Potassium voltage-gated channel sub... | KCNQ2 | 410 | Annotation score: | ||
A0A0G2JRU6 | A0A0G2JRU6_HUMAN | Potassium voltage-gated channel sub... | KCNQ2 | 392 | Annotation score: | ||
A0A0G2JRN9 | A0A0G2JRN9_HUMAN | Potassium voltage-gated channel sub... | KCNQ2 | 382 | Annotation score: | ||
Q4VXP6 | Q4VXP6_HUMAN | Potassium voltage-gated channel sub... | KCNQ2 | 766 | Annotation score: | ||
A0A0D9SEV1 | A0A0D9SEV1_HUMAN | Potassium voltage-gated channel sub... | KCNQ2 | 754 | Annotation score: | ||
A0A0D9SF10 | A0A0D9SF10_HUMAN | Potassium voltage-gated channel sub... | KCNQ2 | 645 | Annotation score: | ||
A0A0D9SG49 | A0A0D9SG49_HUMAN | Potassium voltage-gated channel sub... | KCNQ2 | 730 | Annotation score: | ||
There are more potential isoformsShow all |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 699 | K → E in AAD16988 (PubMed:9836639).Curated | 1 | |
Sequence conflicti | 854 | R → C in AAD16988 (PubMed:9836639).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_078658 | 114 | T → A in BFNS1. 1 PublicationCorresponds to variant dbSNP:rs1057516076EnsemblClinVar. | 1 | |
Natural variantiVAR_078659 | 154 | Y → D in BFNS1; with infantile seizures. 1 PublicationCorresponds to variant dbSNP:rs1057516078EnsemblClinVar. | 1 | |
Natural variantiVAR_078660 | 159 | G → E in BFNS1. 1 PublicationCorresponds to variant dbSNP:rs1057516081EnsemblClinVar. | 1 | |
Natural variantiVAR_078661 | 159 | G → R in BFNS1. 1 PublicationCorresponds to variant dbSNP:rs1057516080EnsemblClinVar. | 1 | |
Natural variantiVAR_078662 | 196 | A → V in BFNS1; with infantile seizures. 1 PublicationCorresponds to variant dbSNP:rs118192199EnsemblClinVar. | 1 | |
Natural variantiVAR_078663 | 201 | R → C in EIEE7; gain-of-function mutation; results in loss of voltage-dependent channel gating and highly increased potassium currents. 2 PublicationsCorresponds to variant dbSNP:rs796052623EnsemblClinVar. | 1 | |
Natural variantiVAR_078664 | 204 – 872 | Missing in BFNS1. 1 PublicationAdd BLAST | 669 | |
Natural variantiVAR_043819 | 207 | R → Q Found in a patient with isolated myokymia; leads to a shift of voltage-dependent activation. 1 PublicationCorresponds to variant dbSNP:rs118192200EnsemblClinVar. | 1 | |
Natural variantiVAR_026987 | 207 | R → W in BFNS1; phenotype manifestations include myokymia in some patients; leads to a shift of voltage-dependent activation of the channel and a dramatic slowing of activation upon depolarization. 1 PublicationCorresponds to variant dbSNP:rs74315391EnsemblClinVar. | 1 | |
Natural variantiVAR_026988 | 208 | M → V in BFNS1; minor effect on maximal current but clearly exhibits a faster rate of deactivation. 1 PublicationCorresponds to variant dbSNP:rs118192201EnsemblClinVar. | 1 | |
Natural variantiVAR_078665 | 210 | R → C in EIEE7. 1 PublicationCorresponds to variant dbSNP:rs796052626EnsemblClinVar. | 1 | |
Natural variantiVAR_078666 | 213 | R → Q in BFNS1 and EIEE7. 2 PublicationsCorresponds to variant dbSNP:rs397514581Ensembl. | 1 | |
Natural variantiVAR_078667 | 213 | R → W in BFNS1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs118192203EnsemblClinVar. | 1 | |
Natural variantiVAR_010929 | 214 | R → W in BFNS1. 1 PublicationCorresponds to variant dbSNP:rs28939684EnsemblClinVar. | 1 | |
Natural variantiVAR_078668 | 217 | T → A in BFNS1; also in patients with infantile seizures. 1 PublicationCorresponds to variant dbSNP:rs1057516089EnsemblClinVar. | 1 | |
Natural variantiVAR_026989 | 228 | H → Q in BFNS1. 1 PublicationCorresponds to variant dbSNP:rs118192204EnsemblClinVar. | 1 | |
Natural variantiVAR_078669 | 234 | T → P in EIEE7. 1 PublicationCorresponds to variant dbSNP:rs1057516091EnsemblClinVar. | 1 | |
Natural variantiVAR_026990 | 243 | L → F in BFNS1. 1 PublicationCorresponds to variant dbSNP:rs118192205EnsemblClinVar. | 1 | |
Natural variantiVAR_026991 | 247 | S → W in EIEE7; reduces channel currents by more than 50% in homomeric channels. 1 PublicationCorresponds to variant dbSNP:rs74315392EnsemblClinVar. | 1 | |
Natural variantiVAR_078207 | 266 | D → E in EIEE7; patient also manifests dyskinesia. 1 PublicationCorresponds to variant dbSNP:rs1057519536EnsemblClinVar. | 1 | |
Natural variantiVAR_078208 | 268 | L → F in EIEE7. 1 PublicationCorresponds to variant dbSNP:rs1057516094EnsemblClinVar. | 1 | |
Natural variantiVAR_078670 | 276 | T → I in EIEE7. 1 PublicationCorresponds to variant dbSNP:rs1057516095EnsemblClinVar. | 1 | |
Natural variantiVAR_010930 | 284 | Y → C in BFNS1; 30%-60% reduction of wt current in heteromeric channels. 3 PublicationsCorresponds to variant dbSNP:rs28939683EnsemblClinVar. | 1 | |
Natural variantiVAR_078209 | 291 | R → S in EIEE7. 1 PublicationCorresponds to variant dbSNP:rs1057519535EnsemblClinVar. | 1 | |
Natural variantiVAR_078210 | 294 | A → V in EIEE7. 1 PublicationCorresponds to variant dbSNP:rs118192211Ensembl. | 1 | |
Natural variantiVAR_078211 | 301 | G → S in EIEE7. 1 PublicationCorresponds to variant dbSNP:rs1057516099EnsemblClinVar. | 1 | |
Natural variantiVAR_010931 | 306 | A → T in BFNS1 and EIEE7; 20%-40% reduction of wt current in heteromeric channels. 4 PublicationsCorresponds to variant dbSNP:rs74315390EnsemblClinVar. | 1 | |
Natural variantiVAR_026992 | 333 | R → Q in BFNS1; moderate effect; less than 50% reduction in current compared with wt heteromeric channels. 1 PublicationCorresponds to variant dbSNP:rs118192216EnsemblClinVar. | 1 | |
Natural variantiVAR_078671 | 353 | R → G in BFNS1. 1 PublicationCorresponds to variant dbSNP:rs118192218EnsemblClinVar. | 1 | |
Natural variantiVAR_078672 | 358 | S → F in BFNS1. 1 PublicationCorresponds to variant dbSNP:rs1057516110EnsemblClinVar. | 1 | |
Natural variantiVAR_078673 | 448 – 872 | Missing in BFNS1; with infantile seizures. 2 PublicationsAdd BLAST | 425 | |
Natural variantiVAR_078674 | 547 | R → W in BFNS1. 1 PublicationCorresponds to variant dbSNP:rs796052650EnsemblClinVar. | 1 | |
Natural variantiVAR_026993 | 554 | K → N in BFNS1 and EIEE7; decreases the voltage-dependence of the channel. 1 PublicationCorresponds to variant dbSNP:rs267607198EnsemblClinVar. | 1 | |
Natural variantiVAR_078675 | 561 | P → S in EIEE7. 1 Publication | 1 | |
Natural variantiVAR_078676 | 578 – 579 | ML → IM in EIEE7. 1 PublicationCorresponds to variant dbSNP:rs796052665Ensembl. | 2 | |
Natural variantiVAR_078677 | 578 | M → V in BFNS1. 1 PublicationCorresponds to variant dbSNP:rs1057516123EnsemblClinVar. | 1 | |
Natural variantiVAR_078678 | 581 – 872 | Missing in BFNS1. 2 PublicationsAdd BLAST | 292 | |
Natural variantiVAR_078212 | 581 | R → Q in EIEE7. 1 PublicationCorresponds to variant dbSNP:rs118192235EnsemblClinVar. | 1 | |
Natural variantiVAR_078679 | 588 | R → S in BFNS1. 1 PublicationCorresponds to variant dbSNP:rs118192237EnsemblClinVar. | 1 | |
Natural variantiVAR_078680 | 637 | L → R in BFNS1. 1 PublicationCorresponds to variant dbSNP:rs118192240EnsemblClinVar. | 1 | |
Natural variantiVAR_078213 | 777 | P → S Found in a patient with continuous spikes and waves during sleep; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs748400155EnsemblClinVar. | 1 | |
Natural variantiVAR_010932 | 780 | N → T1 PublicationCorresponds to variant dbSNP:rs1801475EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_000984 | 310 – 320 | Missing in isoform 5. 1 PublicationAdd BLAST | 11 | |
Alternative sequenceiVSP_000986 | 373 – 393 | SSQTQ…NQLEL → RYRRRAPATKQLFHFLFSIC S in isoform 6. 2 PublicationsAdd BLAST | 21 | |
Alternative sequenceiVSP_000985 | 373 – 382 | Missing in isoform 3. 1 Publication | 10 | |
Alternative sequenceiVSP_000987 | 394 – 872 | Missing in isoform 6. 2 PublicationsAdd BLAST | 479 | |
Alternative sequenceiVSP_000989 | 417 – 446 | Missing in isoform 4. 1 PublicationAdd BLAST | 30 | |
Alternative sequenceiVSP_000988 | 417 – 434 | Missing in isoform 2, isoform 3 and isoform 5. 3 PublicationsAdd BLAST | 18 | |
Alternative sequenceiVSP_000990 | 509 | Missing in isoform 4. 1 Publication | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | D82346 mRNA Translation: BAA11557.1 AF033348 mRNA Translation: AAB97315.1 Y15065 mRNA Translation: CAA75348.1 AF110020 mRNA Translation: AAD16988.1 AF074247 mRNA Translation: AAC25921.1 AL121827 Genomic DNA No translation available. AL121829 Genomic DNA No translation available. AL353658 Genomic DNA No translation available. BC000699 mRNA Translation: AAH00699.1 |
CCDSi | CCDS13518.1 [O43526-3] CCDS13519.1 [O43526-2] CCDS13520.1 [O43526-1] CCDS13521.1 [O43526-6] CCDS46629.1 [O43526-4] |
PIRi | JC5275 |
RefSeqi | NP_004509.2, NM_004518.5 [O43526-3] NP_742104.1, NM_172106.2 [O43526-2] NP_742105.1, NM_172107.3 [O43526-1] NP_742106.1, NM_172108.4 [O43526-4] NP_742107.1, NM_172109.2 [O43526-6] |
Genome annotation databases
Ensembli | ENST00000344425; ENSP00000345523; ENSG00000075043 [O43526-6] ENST00000344462; ENSP00000339611; ENSG00000075043 [O43526-4] ENST00000359125; ENSP00000352035; ENSG00000075043 [O43526-1] ENST00000360480; ENSP00000353668; ENSG00000075043 [O43526-3] ENST00000626839; ENSP00000486706; ENSG00000075043 [O43526-2] |
GeneIDi | 3785 |
KEGGi | hsa:3785 |
UCSCi | uc002yey.2, human [O43526-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | D82346 mRNA Translation: BAA11557.1 AF033348 mRNA Translation: AAB97315.1 Y15065 mRNA Translation: CAA75348.1 AF110020 mRNA Translation: AAD16988.1 AF074247 mRNA Translation: AAC25921.1 AL121827 Genomic DNA No translation available. AL121829 Genomic DNA No translation available. AL353658 Genomic DNA No translation available. BC000699 mRNA Translation: AAH00699.1 |
CCDSi | CCDS13518.1 [O43526-3] CCDS13519.1 [O43526-2] CCDS13520.1 [O43526-1] CCDS13521.1 [O43526-6] CCDS46629.1 [O43526-4] |
PIRi | JC5275 |
RefSeqi | NP_004509.2, NM_004518.5 [O43526-3] NP_742104.1, NM_172106.2 [O43526-2] NP_742105.1, NM_172107.3 [O43526-1] NP_742106.1, NM_172108.4 [O43526-4] NP_742107.1, NM_172109.2 [O43526-6] |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
5J03 | X-ray | 2.00 | A | 530-557 | [»] | |
6FEG | NMR | - | A | 326-372 | [»] | |
6FEH | NMR | - | A | 326-372 | [»] | |
7CR0 | electron microscopy | 3.10 | A/B/C/D | 64-702 | [»] | |
7CR1 | electron microscopy | 3.40 | A/B/C/D | 64-702 | [»] | |
7CR2 | electron microscopy | 3.20 | A/B/C/D | 64-702 | [»] | |
7CR3 | electron microscopy | 3.60 | A/B/D/G | 64-702 | [»] | |
7CR4 | electron microscopy | 3.90 | A/B/D/F | 64-702 | [»] | |
7CR7 | electron microscopy | 3.70 | A/B/D/G | 64-702 | [»] | |
SMRi | O43526 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 109986, 8 interactors |
CORUMi | O43526 |
IntActi | O43526, 3 interactors |
STRINGi | 9606.ENSP00000352035 |
Chemistry databases
BindingDBi | O43526 |
ChEMBLi | CHEMBL2476 |
DrugBanki | DB00321, Amitriptyline DB00586, Diclofenac DB00228, Enflurane DB04953, Ezogabine DB06089, ICA-105665 DB00939, Meclofenamic acid DB01110, Miconazole DB01069, Promethazine |
DrugCentrali | O43526 |
GuidetoPHARMACOLOGYi | 561 |
Protein family/group databases
TCDBi | 1.A.1.15.2, the voltage-gated ion channel (vic) superfamily |
PTM databases
iPTMneti | O43526 |
PhosphoSitePlusi | O43526 |
Genetic variation databases
BioMutai | KCNQ2 |
Proteomic databases
jPOSTi | O43526 |
MassIVEi | O43526 |
PaxDbi | O43526 |
PeptideAtlasi | O43526 |
PRIDEi | O43526 |
ProteomicsDBi | 49031 [O43526-1] 49032 [O43526-2] 49033 [O43526-3] 49034 [O43526-4] 49035 [O43526-5] 49036 [O43526-6] |
Protocols and materials databases
ABCDi | O43526, 1 sequenced antibody |
Antibodypediai | 15101, 269 antibodies |
DNASUi | 3785 |
Genome annotation databases
Ensembli | ENST00000344425; ENSP00000345523; ENSG00000075043 [O43526-6] ENST00000344462; ENSP00000339611; ENSG00000075043 [O43526-4] ENST00000359125; ENSP00000352035; ENSG00000075043 [O43526-1] ENST00000360480; ENSP00000353668; ENSG00000075043 [O43526-3] ENST00000626839; ENSP00000486706; ENSG00000075043 [O43526-2] |
GeneIDi | 3785 |
KEGGi | hsa:3785 |
UCSCi | uc002yey.2, human [O43526-1] |
Organism-specific databases
CTDi | 3785 |
DisGeNETi | 3785 |
GeneCardsi | KCNQ2 |
GeneReviewsi | KCNQ2 |
HGNCi | HGNC:6296, KCNQ2 |
HPAi | ENSG00000075043, Tissue enriched (brain) |
MalaCardsi | KCNQ2 |
MIMi | 121200, phenotype 602235, gene 613720, phenotype |
neXtProti | NX_O43526 |
OpenTargetsi | ENSG00000075043 |
Orphaneti | 306, Benign familial infantile epilepsy 1949, Benign familial neonatal epilepsy 140927, Benign familial neonatal-infantile seizures 439218, KCNQ2-related epileptic encephalopathy |
PharmGKBi | PA30074 |
VEuPathDBi | HostDB:ENSG00000075043.17 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG1419, Eukaryota |
GeneTreei | ENSGT00940000160093 |
HOGENOMi | CLU_011722_1_6_1 |
InParanoidi | O43526 |
OMAi | QHQAYQR |
OrthoDBi | 1168835at2759 |
PhylomeDBi | O43526 |
TreeFami | TF315186 |
Enzyme and pathway databases
PathwayCommonsi | O43526 |
Reactomei | R-HSA-1296072, Voltage gated Potassium channels R-HSA-445095, Interaction between L1 and Ankyrins |
SIGNORi | O43526 |
Miscellaneous databases
BioGRID-ORCSi | 3785, 19 hits in 876 CRISPR screens |
ChiTaRSi | KCNQ2, human |
GeneWikii | KvLQT2 |
GenomeRNAii | 3785 |
Pharosi | O43526, Tclin |
PROi | PR:O43526 |
RNActi | O43526, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000075043, Expressed in right hemisphere of cerebellum and 127 other tissues |
ExpressionAtlasi | O43526, baseline and differential |
Genevisiblei | O43526, HS |
Family and domain databases
InterProi | View protein in InterPro IPR020969, Ankyrin-G_BS IPR005821, Ion_trans_dom IPR003937, K_chnl_volt-dep_KCNQ IPR003947, K_chnl_volt-dep_KCNQ2 IPR013821, K_chnl_volt-dep_KCNQ_C IPR028325, VG_K_chnl |
PANTHERi | PTHR11537, PTHR11537, 1 hit PTHR11537:SF6, PTHR11537:SF6, 1 hit |
Pfami | View protein in Pfam PF00520, Ion_trans, 1 hit PF03520, KCNQ_channel, 1 hit PF11956, KCNQC3-Ank-G_bd, 1 hit |
PRINTSi | PR01461, KCNQ2CHANNEL PR01459, KCNQCHANNEL |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | KCNQ2_HUMAN | |
Accessioni | O43526Primary (citable) accession number: O43526 Secondary accession number(s): O43796 Q99454 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | June 1, 2001 |
Last sequence update: | June 1, 2001 | |
Last modified: | February 10, 2021 | |
This is version 213 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Reference proteomeDocuments
- Human chromosome 20
Human chromosome 20: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families