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UniProtKB - O43526 (KCNQ2_HUMAN)

Protein

Potassium voltage-gated channel subfamily KQT member 2

Gene

KCNQ2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Associates with KCNQ3 to form a potassium channel with essentially identical properties to the channel underlying the native M-current, a slowly activating and deactivating potassium conductance which plays a critical role in determining the subthreshold electrical excitability of neurons as well as the responsiveness to synaptic inputs. Therefore, it is important in the regulation of neuronal excitability. KCNQ2/KCNQ3 current is blocked by linopirdine and XE991, and activated by the anticonvulsant retigabine (PubMed:9836639, PubMed:11572947, PubMed:14534157, PubMed:12742592, PubMed:17872363). As the native M-channel, the potassium channel composed of KCNQ2 and KCNQ3 is also suppressed by activation of the muscarinic acetylcholine receptor CHRM1 (PubMed:10684873).7 Publications

Miscellaneous

Inclusion of isoform 6 in heteromultimers results in attenuation of potassium current. Prominent expression of isoform 6 in the developing brain may alter firing repertoires of immature neurons excitability to provide cues for proliferation rather than differentiation.

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
View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

Keywordsi

Molecular functionIon channel, Potassium channel, Voltage-gated channel
Biological processIon transport, Potassium transport, Transport
LigandPotassium

Enzyme and pathway databases

ReactomeiR-HSA-1296072 Voltage gated Potassium channels
R-HSA-445095 Interaction between L1 and Ankyrins
SIGNORiO43526

Protein family/group databases

TCDBi1.A.1.15.2 the voltage-gated ion channel (vic) superfamily

Names & Taxonomyi

Protein namesi
Recommended name:
Potassium voltage-gated channel subfamily KQT member 2Curated
Alternative name(s):
KQT-like 2
Neuroblastoma-specific potassium channel subunit alpha KvLQT2
Voltage-gated potassium channel subunit Kv7.2
Gene namesi
Name:KCNQ2Imported
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 20

Organism-specific databases

EuPathDBiHostDB:ENSG00000075043.17
HGNCiHGNC:6296 KCNQ2
MIMi602235 gene
neXtProtiNX_O43526

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 91CytoplasmicSequence analysisAdd BLAST91
Transmembranei92 – 112Helical; Name=Segment S1Sequence analysisAdd BLAST21
Topological domaini113 – 122ExtracellularSequence analysis10
Transmembranei123 – 143Helical; Name=Segment S2Sequence analysisAdd BLAST21
Topological domaini144 – 166CytoplasmicSequence analysisAdd BLAST23
Transmembranei167 – 187Helical; Name=Segment S3Sequence analysisAdd BLAST21
Topological domaini188 – 195ExtracellularSequence analysis8
Transmembranei196 – 218Helical; Voltage-sensor; Name=Segment S4Sequence analysisAdd BLAST23
Topological domaini219 – 231CytoplasmicSequence analysisAdd BLAST13
Transmembranei232 – 252Helical; Name=Segment S5Sequence analysisAdd BLAST21
Topological domaini253 – 264ExtracellularSequence analysisAdd BLAST12
Intramembranei265 – 285Pore-forming; Name=Segment H5Sequence analysisAdd BLAST21
Topological domaini286 – 291ExtracellularSequence analysis6
Transmembranei292 – 312Helical; Name=Segment S6Sequence analysisAdd BLAST21
Topological domaini313 – 872CytoplasmicSequence analysisAdd BLAST560

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Involvement in diseasei

Seizures, benign familial neonatal 1 (BFNS1)8 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by clusters of seizures occurring in the first days of life. Most patients have spontaneous remission by 12 months of age and show normal psychomotor development. Some rare cases manifest an atypical severe phenotype associated with epileptic encephalopathy and psychomotor retardation. The disorder is distinguished from benign familial infantile seizures by an earlier age at onset. In some patients, neonatal convulsions are followed later in life by myokymia, a benign condition characterized by spontaneous involuntary contractions of skeletal muscles fiber groups that can be observed as vermiform movement of the overlying skin. Electromyography typically shows continuous motor unit activity with spontaneous oligo- and multiplet-discharges of high intraburst frequency (myokymic discharges). Some patients may have isolated myokymia.
See also OMIM:121200
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_078658114T → A in BFNS1. 1 PublicationCorresponds to variant dbSNP:rs1057516076Ensembl.1
Natural variantiVAR_078659154Y → D in BFNS1; with infantile seizures. 1 PublicationCorresponds to variant dbSNP:rs1057516078Ensembl.1
Natural variantiVAR_078660159G → E in BFNS1. 1 PublicationCorresponds to variant dbSNP:rs1057516081Ensembl.1
Natural variantiVAR_078661159G → R in BFNS1. 1 PublicationCorresponds to variant dbSNP:rs1057516080Ensembl.1
Natural variantiVAR_078662196A → V in BFNS1; with infantile seizures. 1 PublicationCorresponds to variant dbSNP:rs118192199EnsemblClinVar.1
Natural variantiVAR_078664204 – 872Missing in BFNS1. 1 PublicationAdd BLAST669
Natural variantiVAR_026987207R → 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_026988208M → 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_078667213R → W in BFNS1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs118192203EnsemblClinVar.1
Natural variantiVAR_010929214R → W in BFNS1. 1 PublicationCorresponds to variant dbSNP:rs28939684EnsemblClinVar.1
Natural variantiVAR_078668217T → A in BFNS1; also in patients with infantile seizures. 1 PublicationCorresponds to variant dbSNP:rs1057516089Ensembl.1
Natural variantiVAR_026989228H → Q in BFNS1. 1 PublicationCorresponds to variant dbSNP:rs118192204EnsemblClinVar.1
Natural variantiVAR_026990243L → F in BFNS1. 1 PublicationCorresponds to variant dbSNP:rs118192205EnsemblClinVar.1
Natural variantiVAR_010930284Y → C in BFNS1; 30%-60% reduction of wt current in heteromeric channels. 3 PublicationsCorresponds to variant dbSNP:rs28939683EnsemblClinVar.1
Natural variantiVAR_026992333R → 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_078671353R → G in BFNS1. 1 PublicationCorresponds to variant dbSNP:rs118192218EnsemblClinVar.1
Natural variantiVAR_078672358S → F in BFNS1. 1 PublicationCorresponds to variant dbSNP:rs1057516110Ensembl.1
Natural variantiVAR_078673448 – 872Missing in BFNS1; with infantile seizures. 2 PublicationsAdd BLAST425
Natural variantiVAR_078674547R → W in BFNS1. 1 PublicationCorresponds to variant dbSNP:rs796052650EnsemblClinVar.1
Natural variantiVAR_078677578M → V in BFNS1. 1 PublicationCorresponds to variant dbSNP:rs1057516123Ensembl.1
Natural variantiVAR_078678581 – 872Missing in BFNS1. 2 PublicationsAdd BLAST292
Natural variantiVAR_078679588R → S in BFNS1. 1 PublicationCorresponds to variant dbSNP:rs118192237EnsemblClinVar.1
Natural variantiVAR_078680637L → R in BFNS1. 1 PublicationCorresponds to variant dbSNP:rs118192240EnsemblClinVar.1
Epileptic encephalopathy, early infantile, 7 (EIEE7)8 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant seizure disorder characterized by infantile onset of refractory seizures with resultant delayed neurologic development and persistent neurologic abnormalities.
See also OMIM:613720
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_078663201R → 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_078665210R → C in EIEE7. 1 PublicationCorresponds to variant dbSNP:rs796052626EnsemblClinVar.1
Natural variantiVAR_078669234T → P in EIEE7. 1 PublicationCorresponds to variant dbSNP:rs1057516091Ensembl.1
Natural variantiVAR_026991247S → W in EIEE7; reduces channel currents by more than 50% in homomeric channels. 1 PublicationCorresponds to variant dbSNP:rs74315392EnsemblClinVar.1
Natural variantiVAR_078207266D → E in EIEE7; patient also manifests dyskinesia. 1 PublicationCorresponds to variant dbSNP:rs1057519536Ensembl.1
Natural variantiVAR_078208268L → F in EIEE7. 1 PublicationCorresponds to variant dbSNP:rs1057516094Ensembl.1
Natural variantiVAR_078670276T → I in EIEE7. 1 PublicationCorresponds to variant dbSNP:rs1057516095Ensembl.1
Natural variantiVAR_078209291R → S in EIEE7. 1 PublicationCorresponds to variant dbSNP:rs1057519535Ensembl.1
Natural variantiVAR_078210294A → V in EIEE7. 1 PublicationCorresponds to variant dbSNP:rs118192211EnsemblClinVar.1
Natural variantiVAR_078211301G → S in EIEE7. 1 PublicationCorresponds to variant dbSNP:rs1057516099Ensembl.1
Natural variantiVAR_078675561P → S in EIEE7. 1 Publication1
Natural variantiVAR_078676578 – 579ML → IM in EIEE7. 1 PublicationCorresponds to variant dbSNP:rs796052665Ensembl.2
Natural variantiVAR_078212581R → Q in EIEE7. 1 PublicationCorresponds to variant dbSNP:rs118192235EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi52S → E: 40% increase in potassium current amplitude. Ratio of 1:1. 1 Publication1
Mutagenesisi52S → Q: Decrease of PKA stimulation. Ratio of 1:1. 1 Publication1
Mutagenesisi217T → A: No effect on current or expression. 1 Publication1
Mutagenesisi217T → D: Abolishes currents without reducing channel protein expression. 1 Publication1
Mutagenesisi279G → S: More than 50% reduction of wt heteromeric current. Ratio of 1:1 and 1:1:2. 1 Publication1

Keywords - Diseasei

Disease mutation, Epilepsy, Mental retardation

Organism-specific databases

DisGeNETi3785
GeneReviewsiKCNQ2
MalaCardsiKCNQ2
MIMi121200 phenotype
613720 phenotype
OpenTargetsiENSG00000075043
Orphaneti306 Benign familial infantile epilepsy
1949 Benign familial neonatal epilepsy
140927 Benign familial neonatal-infantile seizures
439218 KCNQ2-related epileptic encephalopathy
PharmGKBiPA30074

Chemistry databases

ChEMBLiCHEMBL2476
DrugBankiDB00321 Amitriptyline
DB00586 Diclofenac
DB04953 Ezogabine
DB06089 ICA-105665
DB00939 Meclofenamic acid
GuidetoPHARMACOLOGYi561

Polymorphism and mutation databases

BioMutaiKCNQ2

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000540301 – 872Potassium voltage-gated channel subfamily KQT member 2Add BLAST872

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei52Phosphoserine; by PKA1 Publication1
Modified residuei217Phosphothreonine1 Publication1
Modified residuei466PhosphoserineBy similarity1
Modified residuei468PhosphoserineBy similarity1
Modified residuei472PhosphoserineBy similarity1
Modified residuei476PhosphoserineBy similarity1
Modified residuei478PhosphoserineBy similarity1
Modified residuei507PhosphoserineBy similarity1
Modified residuei672PhosphoserineBy similarity1
Modified residuei801PhosphoserineBy similarity1
Modified residuei803PhosphoserineBy similarity1

Post-translational modificationi

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.2 Publications
KCNQ2/KCNQ3 are ubiquitinated by NEDD4L. Ubiquitination leads to protein degradation (Probable). Degradation induced by NEDD4L is inhibited by USP36 (PubMed:27445338).1 Publication1 Publication

Keywords - PTMi

Phosphoprotein, Ubl conjugation

Proteomic databases

PaxDbiO43526
PeptideAtlasiO43526
PRIDEiO43526
ProteomicsDBi49031
49032 [O43526-2]
49033 [O43526-3]
49034 [O43526-4]
49035 [O43526-5]
49036 [O43526-6]

PTM databases

iPTMnetiO43526
PhosphoSitePlusiO43526

Expressioni

Tissue specificityi

In adult and fetal brain. Highly expressed in areas containing neuronal cell bodies, low in spinal chord and corpus callosum. Isoform 2 is preferentially expressed in differentiated neurons. Isoform 6 is prominent in fetal brain, undifferentiated neuroblastoma cells and brain tumors.1 Publication

Gene expression databases

BgeeiENSG00000075043 Expressed in 112 organ(s), highest expression level in right hemisphere of cerebellum
CleanExiHS_KCNQ2
ExpressionAtlasiO43526 baseline and differential
GenevisibleiO43526 HS

Organism-specific databases

HPAiHPA016642
HPA057112

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 to 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 Publications

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridi109986, 7 interactors
CORUMiO43526
IntActiO43526, 1 interactor
STRINGi9606.ENSP00000352035

Chemistry databases

BindingDBiO43526

Structurei

Secondary structure

1872
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliO43526
SMRiO43526
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni317 – 539Mediates interaction with calmodulin1 PublicationAdd BLAST223

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi277 – 282Selectivity filterBy similarity6

Domaini

The segment S4 is probably the voltage-sensor and is characterized by a series of positively charged amino acids at every third position.By similarity

Sequence similaritiesi

Belongs to the potassium channel family. KQT (TC 1.A.1.15) subfamily. Kv7.2/KCNQ2 sub-subfamily. [View classification]Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG1419 Eukaryota
COG1226 LUCA
GeneTreeiENSGT00550000074513
HOVERGENiHBG059014
InParanoidiO43526
KOiK04927
OMAiMGQKNFS
OrthoDBiEOG091G02ZT
PhylomeDBiO43526
TreeFamiTF315186

Family and domain databases

InterProiView 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
PANTHERiPTHR11537 PTHR11537, 1 hit
PTHR11537:SF6 PTHR11537:SF6, 1 hit
PfamiView protein in Pfam
PF00520 Ion_trans, 1 hit
PF03520 KCNQ_channel, 1 hit
PF11956 KCNQC3-Ank-G_bd, 1 hit
PRINTSiPR00169 KCHANNEL
PR01461 KCNQ2CHANNEL
PR01459 KCNQCHANNEL

Sequences (6+)i

Sequence statusi: Complete.

This entry describes 6 isoformsi produced by alternative splicing. AlignAdd to basket
Note: Additional isoforms seem to exist.

This entry has 6 described isoforms and 20 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: O43526-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        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
Length:872
Mass (Da):95,848
Last modified:June 1, 2001 - v2
Checksum:i22E8A0880A27B58C
GO
Isoform 2 (identifier: O43526-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     417-434: Missing.

Show »
Length:854
Mass (Da):94,100
Checksum:iCF3F5EC2E23E21FC
GO
Isoform 3 (identifier: O43526-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     373-382: Missing.
     417-434: Missing.

Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
Show »
Length:844
Mass (Da):93,089
Checksum:i5228E1B8C3D8C17F
GO
Isoform 4 (identifier: O43526-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     417-446: Missing.
     509-509: Missing.

Show »
Length:841
Mass (Da):92,596
Checksum:i065E37AF63726B10
GO
Isoform 5 (identifier: O43526-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     310-320: Missing.
     417-434: Missing.

Show »
Length:843
Mass (Da):93,057
Checksum:iAF6F5146789F4167
GO
Isoform 6 (identifier: O43526-6) [UniParc]FASTAAdd to basket
Also known as: HNSPC

The sequence of this isoform differs from the canonical sequence as follows:
     373-393: SSQTQTYGASRLIPPLNQLEL → RYRRRAPATKQLFHFLFSICS
     394-872: Missing.

Show »
Length:393
Mass (Da):44,261
Checksum:i9415BC4FC2F84675
GO

Computationally mapped potential isoform sequencesi

There are 20 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A1B0GW14A0A1B0GW14_HUMAN
Potassium voltage-gated channel sub...
KCNQ2
671Annotation score:
A0A0G2JR54A0A0G2JR54_HUMAN
Potassium voltage-gated channel sub...
KCNQ2
410Annotation score:
A0A0G2JQG6A0A0G2JQG6_HUMAN
Potassium voltage-gated channel sub...
KCNQ2
370Annotation score:
A0A0G2JR60A0A0G2JR60_HUMAN
Potassium voltage-gated channel sub...
KCNQ2
295Annotation score:
A0A0G2JRU6A0A0G2JRU6_HUMAN
Potassium voltage-gated channel sub...
KCNQ2
392Annotation score:
A0A0G2JQC9A0A0G2JQC9_HUMAN
Potassium voltage-gated channel sub...
KCNQ2
380Annotation score:
A0A0G2JRN9A0A0G2JRN9_HUMAN
Potassium voltage-gated channel sub...
KCNQ2
382Annotation score:
Q4VXP6Q4VXP6_HUMAN
Potassium voltage-gated channel sub...
KCNQ2
766Annotation score:
A0A0D9SG49A0A0D9SG49_HUMAN
Potassium voltage-gated channel sub...
KCNQ2
730Annotation score:
A0A0G2JH35A0A0G2JH35_HUMAN
Potassium voltage-gated channel sub...
KCNQ2
728Annotation score:
There are more potential isoformsShow all

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti699K → E in AAD16988 (PubMed:9836639).Curated1
Sequence conflicti854R → C in AAD16988 (PubMed:9836639).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_078658114T → A in BFNS1. 1 PublicationCorresponds to variant dbSNP:rs1057516076Ensembl.1
Natural variantiVAR_078659154Y → D in BFNS1; with infantile seizures. 1 PublicationCorresponds to variant dbSNP:rs1057516078Ensembl.1
Natural variantiVAR_078660159G → E in BFNS1. 1 PublicationCorresponds to variant dbSNP:rs1057516081Ensembl.1
Natural variantiVAR_078661159G → R in BFNS1. 1 PublicationCorresponds to variant dbSNP:rs1057516080Ensembl.1
Natural variantiVAR_078662196A → V in BFNS1; with infantile seizures. 1 PublicationCorresponds to variant dbSNP:rs118192199EnsemblClinVar.1
Natural variantiVAR_078663201R → 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_078664204 – 872Missing in BFNS1. 1 PublicationAdd BLAST669
Natural variantiVAR_043819207R → 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_026987207R → 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_026988208M → 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_078665210R → C in EIEE7. 1 PublicationCorresponds to variant dbSNP:rs796052626EnsemblClinVar.1
Natural variantiVAR_078666213R → Q in BFNS1 and EIEE7. 2 PublicationsCorresponds to variant dbSNP:rs397514581EnsemblClinVar.1
Natural variantiVAR_078667213R → W in BFNS1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs118192203EnsemblClinVar.1
Natural variantiVAR_010929214R → W in BFNS1. 1 PublicationCorresponds to variant dbSNP:rs28939684EnsemblClinVar.1
Natural variantiVAR_078668217T → A in BFNS1; also in patients with infantile seizures. 1 PublicationCorresponds to variant dbSNP:rs1057516089Ensembl.1
Natural variantiVAR_026989228H → Q in BFNS1. 1 PublicationCorresponds to variant dbSNP:rs118192204EnsemblClinVar.1
Natural variantiVAR_078669234T → P in EIEE7. 1 PublicationCorresponds to variant dbSNP:rs1057516091Ensembl.1
Natural variantiVAR_026990243L → F in BFNS1. 1 PublicationCorresponds to variant dbSNP:rs118192205EnsemblClinVar.1
Natural variantiVAR_026991247S → W in EIEE7; reduces channel currents by more than 50% in homomeric channels. 1 PublicationCorresponds to variant dbSNP:rs74315392EnsemblClinVar.1
Natural variantiVAR_078207266D → E in EIEE7; patient also manifests dyskinesia. 1 PublicationCorresponds to variant dbSNP:rs1057519536Ensembl.1
Natural variantiVAR_078208268L → F in EIEE7. 1 PublicationCorresponds to variant dbSNP:rs1057516094Ensembl.1
Natural variantiVAR_078670276T → I in EIEE7. 1 PublicationCorresponds to variant dbSNP:rs1057516095Ensembl.1
Natural variantiVAR_010930284Y → C in BFNS1; 30%-60% reduction of wt current in heteromeric channels. 3 PublicationsCorresponds to variant dbSNP:rs28939683EnsemblClinVar.1
Natural variantiVAR_078209291R → S in EIEE7. 1 PublicationCorresponds to variant dbSNP:rs1057519535Ensembl.1
Natural variantiVAR_078210294A → V in EIEE7. 1 PublicationCorresponds to variant dbSNP:rs118192211EnsemblClinVar.1
Natural variantiVAR_078211301G → S in EIEE7. 1 PublicationCorresponds to variant dbSNP:rs1057516099Ensembl.1
Natural variantiVAR_010931306A → T in BFNS1 and EIEE7; 20%-40% reduction of wt current in heteromeric channels. 4 PublicationsCorresponds to variant dbSNP:rs74315390EnsemblClinVar.1
Natural variantiVAR_026992333R → 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_078671353R → G in BFNS1. 1 PublicationCorresponds to variant dbSNP:rs118192218EnsemblClinVar.1
Natural variantiVAR_078672358S → F in BFNS1. 1 PublicationCorresponds to variant dbSNP:rs1057516110Ensembl.1
Natural variantiVAR_078673448 – 872Missing in BFNS1; with infantile seizures. 2 PublicationsAdd BLAST425
Natural variantiVAR_078674547R → W in BFNS1. 1 PublicationCorresponds to variant dbSNP:rs796052650EnsemblClinVar.1
Natural variantiVAR_026993554K → N in BFNS1 and EIEE7; decreases the voltage-dependence of the channel. 1 PublicationCorresponds to variant dbSNP:rs267607198EnsemblClinVar.1
Natural variantiVAR_078675561P → S in EIEE7. 1 Publication1
Natural variantiVAR_078676578 – 579ML → IM in EIEE7. 1 PublicationCorresponds to variant dbSNP:rs796052665Ensembl.2
Natural variantiVAR_078677578M → V in BFNS1. 1 PublicationCorresponds to variant dbSNP:rs1057516123Ensembl.1
Natural variantiVAR_078678581 – 872Missing in BFNS1. 2 PublicationsAdd BLAST292
Natural variantiVAR_078212581R → Q in EIEE7. 1 PublicationCorresponds to variant dbSNP:rs118192235EnsemblClinVar.1
Natural variantiVAR_078679588R → S in BFNS1. 1 PublicationCorresponds to variant dbSNP:rs118192237EnsemblClinVar.1
Natural variantiVAR_078680637L → R in BFNS1. 1 PublicationCorresponds to variant dbSNP:rs118192240EnsemblClinVar.1
Natural variantiVAR_078213777P → S Found in a patient with continuous spikes and waves during sleep; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs748400155EnsemblClinVar.1
Natural variantiVAR_010932780N → T1 PublicationCorresponds to variant dbSNP:rs1801475EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_000984310 – 320Missing in isoform 5. 1 PublicationAdd BLAST11
Alternative sequenceiVSP_000986373 – 393SSQTQ…NQLEL → RYRRRAPATKQLFHFLFSIC S in isoform 6. 2 PublicationsAdd BLAST21
Alternative sequenceiVSP_000985373 – 382Missing in isoform 3. 1 Publication10
Alternative sequenceiVSP_000987394 – 872Missing in isoform 6. 2 PublicationsAdd BLAST479
Alternative sequenceiVSP_000989417 – 446Missing in isoform 4. 1 PublicationAdd BLAST30
Alternative sequenceiVSP_000988417 – 434Missing in isoform 2, isoform 3 and isoform 5. 3 PublicationsAdd BLAST18
Alternative sequenceiVSP_000990509Missing in isoform 4. 1 Publication1

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
CCDSiCCDS13518.1 [O43526-3]
CCDS13519.1 [O43526-2]
CCDS13520.1 [O43526-1]
CCDS13521.1 [O43526-6]
CCDS46629.1 [O43526-4]
PIRiJC5275
RefSeqiNP_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]
UniGeneiHs.161851
Hs.652468

Genome annotation databases

EnsembliENST00000344425; ENSP00000345523; ENSG00000075043 [O43526-6]
ENST00000344462; ENSP00000339611; ENSG00000075043 [O43526-4]
ENST00000359125; ENSP00000352035; ENSG00000075043 [O43526-1]
ENST00000360480; ENSP00000353668; ENSG00000075043 [O43526-3]
ENST00000626839; ENSP00000486706; ENSG00000075043 [O43526-2]
GeneIDi3785
KEGGihsa:3785
UCSCiuc002yey.2 human [O43526-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar 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
CCDSiCCDS13518.1 [O43526-3]
CCDS13519.1 [O43526-2]
CCDS13520.1 [O43526-1]
CCDS13521.1 [O43526-6]
CCDS46629.1 [O43526-4]
PIRiJC5275
RefSeqiNP_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]
UniGeneiHs.161851
Hs.652468

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5J03X-ray2.00A530-557[»]
6FEGNMR-A326-372[»]
6FEHNMR-A326-372[»]
ProteinModelPortaliO43526
SMRiO43526
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi109986, 7 interactors
CORUMiO43526
IntActiO43526, 1 interactor
STRINGi9606.ENSP00000352035

Chemistry databases

BindingDBiO43526
ChEMBLiCHEMBL2476
DrugBankiDB00321 Amitriptyline
DB00586 Diclofenac
DB04953 Ezogabine
DB06089 ICA-105665
DB00939 Meclofenamic acid
GuidetoPHARMACOLOGYi561

Protein family/group databases

TCDBi1.A.1.15.2 the voltage-gated ion channel (vic) superfamily

PTM databases

iPTMnetiO43526
PhosphoSitePlusiO43526

Polymorphism and mutation databases

BioMutaiKCNQ2

Proteomic databases

PaxDbiO43526
PeptideAtlasiO43526
PRIDEiO43526
ProteomicsDBi49031
49032 [O43526-2]
49033 [O43526-3]
49034 [O43526-4]
49035 [O43526-5]
49036 [O43526-6]

Protocols and materials databases

DNASUi3785
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000344425; ENSP00000345523; ENSG00000075043 [O43526-6]
ENST00000344462; ENSP00000339611; ENSG00000075043 [O43526-4]
ENST00000359125; ENSP00000352035; ENSG00000075043 [O43526-1]
ENST00000360480; ENSP00000353668; ENSG00000075043 [O43526-3]
ENST00000626839; ENSP00000486706; ENSG00000075043 [O43526-2]
GeneIDi3785
KEGGihsa:3785
UCSCiuc002yey.2 human [O43526-1]

Organism-specific databases

CTDi3785
DisGeNETi3785
EuPathDBiHostDB:ENSG00000075043.17
GeneCardsiKCNQ2
GeneReviewsiKCNQ2
HGNCiHGNC:6296 KCNQ2
HPAiHPA016642
HPA057112
MalaCardsiKCNQ2
MIMi121200 phenotype
602235 gene
613720 phenotype
neXtProtiNX_O43526
OpenTargetsiENSG00000075043
Orphaneti306 Benign familial infantile epilepsy
1949 Benign familial neonatal epilepsy
140927 Benign familial neonatal-infantile seizures
439218 KCNQ2-related epileptic encephalopathy
PharmGKBiPA30074
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1419 Eukaryota
COG1226 LUCA
GeneTreeiENSGT00550000074513
HOVERGENiHBG059014
InParanoidiO43526
KOiK04927
OMAiMGQKNFS
OrthoDBiEOG091G02ZT
PhylomeDBiO43526
TreeFamiTF315186

Enzyme and pathway databases

ReactomeiR-HSA-1296072 Voltage gated Potassium channels
R-HSA-445095 Interaction between L1 and Ankyrins
SIGNORiO43526

Miscellaneous databases

ChiTaRSiKCNQ2 human
GeneWikiiKvLQT2
GenomeRNAii3785
PROiPR:O43526
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000075043 Expressed in 112 organ(s), highest expression level in right hemisphere of cerebellum
CleanExiHS_KCNQ2
ExpressionAtlasiO43526 baseline and differential
GenevisibleiO43526 HS

Family and domain databases

InterProiView 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
PANTHERiPTHR11537 PTHR11537, 1 hit
PTHR11537:SF6 PTHR11537:SF6, 1 hit
PfamiView protein in Pfam
PF00520 Ion_trans, 1 hit
PF03520 KCNQ_channel, 1 hit
PF11956 KCNQC3-Ank-G_bd, 1 hit
PRINTSiPR00169 KCHANNEL
PR01461 KCNQ2CHANNEL
PR01459 KCNQCHANNEL
ProtoNetiSearch...

Entry informationi

Entry nameiKCNQ2_HUMAN
AccessioniPrimary (citable) accession number: O43526
Secondary accession number(s): O43796
, O75580, O95845, Q4VXP4, Q4VXR6, Q5VYT8, Q96J59, Q99454
Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 1, 2001
Last sequence update: June 1, 2001
Last modified: November 7, 2018
This is version 198 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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, Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human chromosome 20
    Human chromosome 20: entries, gene names and cross-references to MIM
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
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Main funding by: National Institutes of Health

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