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Protein

Potassium voltage-gated channel subfamily KQT member 2

Gene

KCNQ2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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).6 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
  • 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

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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 20

Organism-specific databases

EuPathDBiHostDB:ENSG00000075043.17.
HGNCiHGNC:6296. KCNQ2.

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 Publication1
Natural variantiVAR_078659154Y → D in BFNS1; with infantile seizures. 1 Publication1
Natural variantiVAR_078660159G → E in BFNS1. 1 Publication1
Natural variantiVAR_078661159G → R in BFNS1. 1 Publication1
Natural variantiVAR_078662196A → V in BFNS1; with infantile seizures. 1 PublicationCorresponds to variant dbSNP:rs118192199Ensembl.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:rs74315391Ensembl.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:rs118192201Ensembl.1
Natural variantiVAR_078666213R → Q in BFNS1 and EIEE7. 2 PublicationsCorresponds to variant dbSNP:rs397514581Ensembl.1
Natural variantiVAR_078667213R → W in BFNS1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs118192203Ensembl.1
Natural variantiVAR_010929214R → W in BFNS1. 1 PublicationCorresponds to variant dbSNP:rs28939684Ensembl.1
Natural variantiVAR_078668217T → A in BFNS1; also in patients with infantile seizures. 1 Publication1
Natural variantiVAR_026989228H → Q in BFNS1. 1 PublicationCorresponds to variant dbSNP:rs118192204Ensembl.1
Natural variantiVAR_026990243L → F in BFNS1. 1 PublicationCorresponds to variant dbSNP:rs118192205Ensembl.1
Natural variantiVAR_010930284Y → C in BFNS1; 30%-60% reduction of wt current in heteromeric channels. 3 PublicationsCorresponds to variant dbSNP:rs28939683Ensembl.1
Natural variantiVAR_010931306A → T in BFNS1 and EIEE7; 20%-40% reduction of wt current in heteromeric channels. 4 PublicationsCorresponds to variant dbSNP:rs74315390Ensembl.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:rs118192216Ensembl.1
Natural variantiVAR_078671353R → G in BFNS1. 1 PublicationCorresponds to variant dbSNP:rs118192218Ensembl.1
Natural variantiVAR_078672358S → F in BFNS1. 1 Publication1
Natural variantiVAR_078673448 – 872Missing in BFNS1; with infantile seizures. 2 PublicationsAdd BLAST425
Natural variantiVAR_078674547R → W in BFNS1. 1 PublicationCorresponds to variant dbSNP:rs796052650Ensembl.1
Natural variantiVAR_026993554K → N in BFNS1 and EIEE7; decreases the voltage-dependence of the channel. 1 PublicationCorresponds to variant dbSNP:rs267607198Ensembl.1
Natural variantiVAR_078677578M → V in BFNS1. 1 Publication1
Natural variantiVAR_078678581 – 872Missing in BFNS1. 2 PublicationsAdd BLAST292
Natural variantiVAR_078679588R → S in BFNS1. 1 PublicationCorresponds to variant dbSNP:rs118192237Ensembl.1
Natural variantiVAR_078680637L → R in BFNS1. 1 PublicationCorresponds to variant dbSNP:rs118192240Ensembl.1
Epileptic encephalopathy, early infantile, 7 (EIEE7)7 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; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs796052623Ensembl.1
Natural variantiVAR_078665210R → C in EIEE7. 1 PublicationCorresponds to variant dbSNP:rs796052626Ensembl.1
Natural variantiVAR_078666213R → Q in BFNS1 and EIEE7. 2 PublicationsCorresponds to variant dbSNP:rs397514581Ensembl.1
Natural variantiVAR_078669234T → P in EIEE7. 1 Publication1
Natural variantiVAR_026991247S → W in EIEE7; reduces channel currents by more than 50% in homomeric channels. 1 PublicationCorresponds to variant dbSNP:rs74315392Ensembl.1
Natural variantiVAR_078207266D → E in EIEE7; patient also manifests dyskinesia. 1 Publication1
Natural variantiVAR_078208268L → F in EIEE7. 1 Publication1
Natural variantiVAR_078670276T → I in EIEE7. 1 Publication1
Natural variantiVAR_078209291R → S in EIEE7. 1 Publication1
Natural variantiVAR_078210294A → V in EIEE7. 1 Publication1
Natural variantiVAR_078211301G → S in EIEE7. 1 Publication1
Natural variantiVAR_010931306A → T in BFNS1 and EIEE7; 20%-40% reduction of wt current in heteromeric channels. 4 PublicationsCorresponds to variant dbSNP:rs74315390Ensembl.1
Natural variantiVAR_026993554K → N in BFNS1 and EIEE7; decreases the voltage-dependence of the channel. 1 PublicationCorresponds to variant dbSNP:rs267607198Ensembl.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:rs118192235Ensembl.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 seizures.
140927. Benign familial neonatal-infantile seizures.
1934. Early infantile 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

Keywords - PTMi

Phosphoprotein

Proteomic databases

PaxDbiO43526.
PeptideAtlasiO43526.
PRIDEiO43526.

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.
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

  • ankyrin binding Source: BHF-UCL
  • calmodulin binding Source: UniProtKB

Protein-protein interaction databases

BioGridi109986. 6 interactors.
CORUMiO43526.
IntActiO43526. 1 interactor.
MINTiMINT-8402812.
STRINGi9606.ENSP00000352035.

Chemistry databases

BindingDBiO43526.

Structurei

Secondary structure

1872
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi535 – 556Combined sources22

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5J03X-ray2.00A530-557[»]
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

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG1419. Eukaryota.
COG1226. LUCA.
GeneTreeiENSGT00550000074513.
HOVERGENiHBG059014.
InParanoidiO43526.
KOiK04927.
OMAiVTVPMYS.
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.
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

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 Publication1
Natural variantiVAR_078659154Y → D in BFNS1; with infantile seizures. 1 Publication1
Natural variantiVAR_078660159G → E in BFNS1. 1 Publication1
Natural variantiVAR_078661159G → R in BFNS1. 1 Publication1
Natural variantiVAR_078662196A → V in BFNS1; with infantile seizures. 1 PublicationCorresponds to variant dbSNP:rs118192199Ensembl.1
Natural variantiVAR_078663201R → C in EIEE7; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs796052623Ensembl.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:rs118192200Ensembl.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:rs74315391Ensembl.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:rs118192201Ensembl.1
Natural variantiVAR_078665210R → C in EIEE7. 1 PublicationCorresponds to variant dbSNP:rs796052626Ensembl.1
Natural variantiVAR_078666213R → Q in BFNS1 and EIEE7. 2 PublicationsCorresponds to variant dbSNP:rs397514581Ensembl.1
Natural variantiVAR_078667213R → W in BFNS1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs118192203Ensembl.1
Natural variantiVAR_010929214R → W in BFNS1. 1 PublicationCorresponds to variant dbSNP:rs28939684Ensembl.1
Natural variantiVAR_078668217T → A in BFNS1; also in patients with infantile seizures. 1 Publication1
Natural variantiVAR_026989228H → Q in BFNS1. 1 PublicationCorresponds to variant dbSNP:rs118192204Ensembl.1
Natural variantiVAR_078669234T → P in EIEE7. 1 Publication1
Natural variantiVAR_026990243L → F in BFNS1. 1 PublicationCorresponds to variant dbSNP:rs118192205Ensembl.1
Natural variantiVAR_026991247S → W in EIEE7; reduces channel currents by more than 50% in homomeric channels. 1 PublicationCorresponds to variant dbSNP:rs74315392Ensembl.1
Natural variantiVAR_078207266D → E in EIEE7; patient also manifests dyskinesia. 1 Publication1
Natural variantiVAR_078208268L → F in EIEE7. 1 Publication1
Natural variantiVAR_078670276T → I in EIEE7. 1 Publication1
Natural variantiVAR_010930284Y → C in BFNS1; 30%-60% reduction of wt current in heteromeric channels. 3 PublicationsCorresponds to variant dbSNP:rs28939683Ensembl.1
Natural variantiVAR_078209291R → S in EIEE7. 1 Publication1
Natural variantiVAR_078210294A → V in EIEE7. 1 Publication1
Natural variantiVAR_078211301G → S in EIEE7. 1 Publication1
Natural variantiVAR_010931306A → T in BFNS1 and EIEE7; 20%-40% reduction of wt current in heteromeric channels. 4 PublicationsCorresponds to variant dbSNP:rs74315390Ensembl.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:rs118192216Ensembl.1
Natural variantiVAR_078671353R → G in BFNS1. 1 PublicationCorresponds to variant dbSNP:rs118192218Ensembl.1
Natural variantiVAR_078672358S → F in BFNS1. 1 Publication1
Natural variantiVAR_078673448 – 872Missing in BFNS1; with infantile seizures. 2 PublicationsAdd BLAST425
Natural variantiVAR_078674547R → W in BFNS1. 1 PublicationCorresponds to variant dbSNP:rs796052650Ensembl.1
Natural variantiVAR_026993554K → N in BFNS1 and EIEE7; decreases the voltage-dependence of the channel. 1 PublicationCorresponds to variant dbSNP:rs267607198Ensembl.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 Publication1
Natural variantiVAR_078678581 – 872Missing in BFNS1. 2 PublicationsAdd BLAST292
Natural variantiVAR_078212581R → Q in EIEE7. 1 PublicationCorresponds to variant dbSNP:rs118192235Ensembl.1
Natural variantiVAR_078679588R → S in BFNS1. 1 PublicationCorresponds to variant dbSNP:rs118192237Ensembl.1
Natural variantiVAR_078680637L → R in BFNS1. 1 PublicationCorresponds to variant dbSNP:rs118192240Ensembl.1
Natural variantiVAR_078213777P → S Found in a patient with continuous spikes and waves during sleep; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs748400155Ensembl.1
Natural variantiVAR_010932780N → T1 PublicationCorresponds to variant dbSNP:rs1801475Ensembl.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.
AL353658, AL121827, AL121829 Genomic DNA. Translation: CAH72958.1.
AL353658, AL121827, AL121829 Genomic DNA. Translation: CAH72959.1.
AL121827, AL121829, AL353658 Genomic DNA. Translation: CAI95054.1.
AL121829, AL121827, AL353658 Genomic DNA. Translation: CAI95740.1.
AL121829, AL121827, AL353658 Genomic DNA. Translation: CAI95744.1.
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

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 22, 2017
This is version 189 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. Human chromosome 20
    Human chromosome 20: entries, gene names and cross-references to MIM
  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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families