UniProtKB - O43526 (KCNQ2_HUMAN)
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Protein
Potassium voltage-gated channel subfamily KQT member 2
Gene
KCNQ2
Organism
Homo sapiens (Human)
Status
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
- 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
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
EuPathDBi | HostDB:ENSG00000075043.17. |
HGNCi | HGNC:6296. KCNQ2. |
MIMi | 602235. gene. |
neXtProti | NX_O43526. |
Subcellular locationi
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
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:121200Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_078658 | 114 | T → A in BFNS1. 1 PublicationCorresponds to variant dbSNP:rs1057516076Ensembl. | 1 | |
Natural variantiVAR_078659 | 154 | Y → D in BFNS1; with infantile seizures. 1 PublicationCorresponds to variant dbSNP:rs1057516078Ensembl. | 1 | |
Natural variantiVAR_078660 | 159 | G → E in BFNS1. 1 PublicationCorresponds to variant dbSNP:rs1057516081Ensembl. | 1 | |
Natural variantiVAR_078661 | 159 | G → R in BFNS1. 1 PublicationCorresponds to variant dbSNP:rs1057516080Ensembl. | 1 | |
Natural variantiVAR_078662 | 196 | A → V in BFNS1; with infantile seizures. 1 PublicationCorresponds to variant dbSNP:rs118192199Ensembl. | 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:rs74315391Ensembl. | 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:rs118192201Ensembl. | 1 | |
Natural variantiVAR_078667 | 213 | R → W in BFNS1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs118192203Ensembl. | 1 | |
Natural variantiVAR_010929 | 214 | R → W in BFNS1. 1 PublicationCorresponds to variant dbSNP:rs28939684Ensembl. | 1 | |
Natural variantiVAR_078668 | 217 | T → A in BFNS1; also in patients with infantile seizures. 1 PublicationCorresponds to variant dbSNP:rs1057516089Ensembl. | 1 | |
Natural variantiVAR_026989 | 228 | H → Q in BFNS1. 1 PublicationCorresponds to variant dbSNP:rs118192204Ensembl. | 1 | |
Natural variantiVAR_026990 | 243 | L → F in BFNS1. 1 PublicationCorresponds to variant dbSNP:rs118192205Ensembl. | 1 | |
Natural variantiVAR_010930 | 284 | Y → C in BFNS1; 30%-60% reduction of wt current in heteromeric channels. 3 PublicationsCorresponds to variant dbSNP:rs28939683Ensembl. | 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:rs118192216Ensembl. | 1 | |
Natural variantiVAR_078671 | 353 | R → G in BFNS1. 1 PublicationCorresponds to variant dbSNP:rs118192218Ensembl. | 1 | |
Natural variantiVAR_078672 | 358 | S → F in BFNS1. 1 PublicationCorresponds to variant dbSNP:rs1057516110Ensembl. | 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:rs796052650Ensembl. | 1 | |
Natural variantiVAR_078677 | 578 | M → V in BFNS1. 1 PublicationCorresponds to variant dbSNP:rs1057516123Ensembl. | 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:rs118192237Ensembl. | 1 | |
Natural variantiVAR_078680 | 637 | L → 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:613720Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_078663 | 201 | R → C in EIEE7; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs796052623Ensembl. | 1 | |
Natural variantiVAR_078665 | 210 | R → C in EIEE7. 1 PublicationCorresponds to variant dbSNP:rs796052626Ensembl. | 1 | |
Natural variantiVAR_078669 | 234 | T → P in EIEE7. 1 PublicationCorresponds to variant dbSNP:rs1057516091Ensembl. | 1 | |
Natural variantiVAR_026991 | 247 | S → W in EIEE7; reduces channel currents by more than 50% in homomeric channels. 1 PublicationCorresponds to variant dbSNP:rs74315392Ensembl. | 1 | |
Natural variantiVAR_078207 | 266 | D → E in EIEE7; patient also manifests dyskinesia. 1 PublicationCorresponds to variant dbSNP:rs1057519536Ensembl. | 1 | |
Natural variantiVAR_078208 | 268 | L → F in EIEE7. 1 PublicationCorresponds to variant dbSNP:rs1057516094Ensembl. | 1 | |
Natural variantiVAR_078670 | 276 | T → I in EIEE7. 1 PublicationCorresponds to variant dbSNP:rs1057516095Ensembl. | 1 | |
Natural variantiVAR_078209 | 291 | R → S in EIEE7. 1 PublicationCorresponds to variant dbSNP:rs1057519535Ensembl. | 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:rs1057516099Ensembl. | 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:rs118192235Ensembl. | 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 mutation, 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 seizures. 140927. Benign familial neonatal-infantile seizures. 1934. Early infantile epileptic encephalopathy. |
PharmGKBi | PA30074. |
Chemistry databases
ChEMBLi | CHEMBL2476. |
DrugBanki | DB00321. Amitriptyline. DB00586. Diclofenac. DB04953. Ezogabine. DB06089. ICA-105665. DB00939. Meclofenamic acid. |
GuidetoPHARMACOLOGYi | 561. |
Polymorphism and mutation 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
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
PhosphoproteinProteomic databases
PaxDbi | O43526. |
PeptideAtlasi | O43526. |
PRIDEi | O43526. |
PTM databases
iPTMneti | O43526. |
PhosphoSitePlusi | O43526. |
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
Bgeei | ENSG00000075043. |
CleanExi | HS_KCNQ2. |
ExpressionAtlasi | O43526. baseline and differential. |
Genevisiblei | O43526. HS. |
Organism-specific databases
HPAi | HPA016642. 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
BioGridi | 109986. 7 interactors. |
CORUMi | O43526. |
IntActi | O43526. 1 interactor. |
STRINGi | 9606.ENSP00000352035. |
Chemistry databases
BindingDBi | O43526. |
Structurei
Secondary structure
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more detailsFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Helixi | 535 – 556 | Combined sources | 22 |
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 | [»] | |
ProteinModelPortali | O43526. | |||||
SMRi | O43526. | |||||
ModBasei | Search... | |||||
MobiDBi | 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
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 helixPhylogenomic databases
eggNOGi | KOG1419. Eukaryota. COG1226. LUCA. |
GeneTreei | ENSGT00550000074513. |
HOVERGENi | HBG059014. |
InParanoidi | O43526. |
KOi | K04927. |
OMAi | VTVPMYS. |
OrthoDBi | EOG091G02ZT. |
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 | PR00169. KCHANNEL. PR01461. KCNQ2CHANNEL. PR01459. KCNQCHANNEL. |
s (6)i Sequence
Sequence statusi: Complete.
This entry describes 6 produced by isoformsialternative 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.
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
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 »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:rs1057516076Ensembl. | 1 | |
Natural variantiVAR_078659 | 154 | Y → D in BFNS1; with infantile seizures. 1 PublicationCorresponds to variant dbSNP:rs1057516078Ensembl. | 1 | |
Natural variantiVAR_078660 | 159 | G → E in BFNS1. 1 PublicationCorresponds to variant dbSNP:rs1057516081Ensembl. | 1 | |
Natural variantiVAR_078661 | 159 | G → R in BFNS1. 1 PublicationCorresponds to variant dbSNP:rs1057516080Ensembl. | 1 | |
Natural variantiVAR_078662 | 196 | A → V in BFNS1; with infantile seizures. 1 PublicationCorresponds to variant dbSNP:rs118192199Ensembl. | 1 | |
Natural variantiVAR_078663 | 201 | R → C in EIEE7; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs796052623Ensembl. | 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:rs118192200Ensembl. | 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:rs74315391Ensembl. | 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:rs118192201Ensembl. | 1 | |
Natural variantiVAR_078665 | 210 | R → C in EIEE7. 1 PublicationCorresponds to variant dbSNP:rs796052626Ensembl. | 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:rs118192203Ensembl. | 1 | |
Natural variantiVAR_010929 | 214 | R → W in BFNS1. 1 PublicationCorresponds to variant dbSNP:rs28939684Ensembl. | 1 | |
Natural variantiVAR_078668 | 217 | T → A in BFNS1; also in patients with infantile seizures. 1 PublicationCorresponds to variant dbSNP:rs1057516089Ensembl. | 1 | |
Natural variantiVAR_026989 | 228 | H → Q in BFNS1. 1 PublicationCorresponds to variant dbSNP:rs118192204Ensembl. | 1 | |
Natural variantiVAR_078669 | 234 | T → P in EIEE7. 1 PublicationCorresponds to variant dbSNP:rs1057516091Ensembl. | 1 | |
Natural variantiVAR_026990 | 243 | L → F in BFNS1. 1 PublicationCorresponds to variant dbSNP:rs118192205Ensembl. | 1 | |
Natural variantiVAR_026991 | 247 | S → W in EIEE7; reduces channel currents by more than 50% in homomeric channels. 1 PublicationCorresponds to variant dbSNP:rs74315392Ensembl. | 1 | |
Natural variantiVAR_078207 | 266 | D → E in EIEE7; patient also manifests dyskinesia. 1 PublicationCorresponds to variant dbSNP:rs1057519536Ensembl. | 1 | |
Natural variantiVAR_078208 | 268 | L → F in EIEE7. 1 PublicationCorresponds to variant dbSNP:rs1057516094Ensembl. | 1 | |
Natural variantiVAR_078670 | 276 | T → I in EIEE7. 1 PublicationCorresponds to variant dbSNP:rs1057516095Ensembl. | 1 | |
Natural variantiVAR_010930 | 284 | Y → C in BFNS1; 30%-60% reduction of wt current in heteromeric channels. 3 PublicationsCorresponds to variant dbSNP:rs28939683Ensembl. | 1 | |
Natural variantiVAR_078209 | 291 | R → S in EIEE7. 1 PublicationCorresponds to variant dbSNP:rs1057519535Ensembl. | 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:rs1057516099Ensembl. | 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:rs74315390Ensembl. | 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:rs118192216Ensembl. | 1 | |
Natural variantiVAR_078671 | 353 | R → G in BFNS1. 1 PublicationCorresponds to variant dbSNP:rs118192218Ensembl. | 1 | |
Natural variantiVAR_078672 | 358 | S → F in BFNS1. 1 PublicationCorresponds to variant dbSNP:rs1057516110Ensembl. | 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:rs796052650Ensembl. | 1 | |
Natural variantiVAR_026993 | 554 | K → N in BFNS1 and EIEE7; decreases the voltage-dependence of the channel. 1 PublicationCorresponds to variant dbSNP:rs267607198Ensembl. | 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:rs1057516123Ensembl. | 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:rs118192235Ensembl. | 1 | |
Natural variantiVAR_078679 | 588 | R → S in BFNS1. 1 PublicationCorresponds to variant dbSNP:rs118192237Ensembl. | 1 | |
Natural variantiVAR_078680 | 637 | L → R in BFNS1. 1 PublicationCorresponds to variant dbSNP:rs118192240Ensembl. | 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:rs748400155Ensembl. | 1 | |
Natural variantiVAR_010932 | 780 | N → T1 PublicationCorresponds to variant dbSNP:rs1801475Ensembl. | 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. 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. |
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] |
UniGenei | Hs.161851. Hs.652468. |
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 splicing, PolymorphismSimilar proteinsi
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: | March 28, 2018 | |
This is version 193 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. |