KCNQ2

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
Inferred from physical interactionⁱ
- 16525039
calmodulin binding
Source: UniProtKB
Inferred from direct assayⁱ
- 27564677
voltage-gated potassium channel activity
Source: UniProtKB
Inferred from direct assayⁱ
- 9836639
- 27564677

View the complete GO annotation on QuickGO ...

GO - Biological processⁱ

chemical synaptic transmission
Source: ProtInc
Traceable author statementⁱ
- 9425895
nervous system development
Source: ProtInc
Traceable author statementⁱ
- 9425895
potassium ion transmembrane transport
Source: UniProtKB
Inferred from direct assayⁱ
- 9836639
- 27564677
regulation of ion transmembrane transport Source: UniProtKB-KW

View the complete GO annotation on QuickGO ...

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

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 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
Organismⁱ	Homo sapiens (Human)
Taxonomic identifierⁱ	9606 [NCBI]
Taxonomic lineageⁱ	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome 20

Organism-specific databases

EuPathDBⁱ	HostDB:ENSG00000075043.17
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:6296 KCNQ2
MIMⁱ	602235 gene
neXtProtⁱ	NX_O43526

Topology

Feature key	Position(s)	DescriptionActions	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, 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.

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.

Feature key	Position(s)	DescriptionActions	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_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:rs74315392EnsemblClinVar.	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:rs118192211EnsemblClinVar.	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:rs118192235EnsemblClinVar.	1

Mutagenesis

Feature key	Position(s)	DescriptionActions	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 retardation

Organism-specific databases

DisGeNET More...DisGeNETⁱ	3785
GeneReviewsⁱ	KCNQ2
MalaCards human disease database More...MalaCardsⁱ	KCNQ2
MIMⁱ	121200 phenotype 613720 phenotype
Open Targets More...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
Drug and drug target database More...DrugBankⁱ	DB00321 Amitriptyline DB00586 Diclofenac DB04953 Ezogabine DB06089 ICA-105665 DB00939 Meclofenamic acid
IUPHAR/BPS Guide to PHARMACOLOGY More...GuidetoPHARMACOLOGYⁱ	561

Polymorphism and mutation databases

BioMutaⁱ	KCNQ2

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	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

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

PaxDbⁱ	O43526
PeptideAtlas More...PeptideAtlasⁱ	O43526
PRIDEⁱ	O43526
ProteomicsDBⁱ	49031 49032 [O43526-2] 49033 [O43526-3] 49034 [O43526-4] 49035 [O43526-5] 49036 [O43526-6]

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

Human Protein Atlas More...HPAⁱ	HPA016642 HPA057112

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
Inferred from physical interactionⁱ
- 16525039
calmodulin binding
Source: UniProtKB
Inferred from direct assayⁱ
- 27564677

View the complete GO annotation on QuickGO ...

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 details

Feature key	Position(s)	DescriptionActions	Length
Beta strandⁱ	353 – 356	Combined sources	4
Helixⁱ	357 – 367	Combined sources	11
Beta strandⁱ	368 – 370	Combined sources	3
Helixⁱ	535 – 556	Combined sources	22

3D structure databases

Select the link destinations: Protein Data Bank Europe More...PDBeⁱ Protein Data Bank RCSB More...RCSB PDBⁱ Protein Data Bank Japan More...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	[»]
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 helix

Phylogenomic databases

eggNOGⁱ	KOG1419 Eukaryota COG1226 LUCA
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00550000074513
HOVERGENⁱ	HBG059014
InParanoidⁱ	O43526
KEGG Orthology (KO) More...KOⁱ	K04927
OMAⁱ	VTVPMYS
Database of Orthologous Groups More...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
Pfam protein domain database More...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

Sequences (6)ⁱ

Sequence statusⁱ: Complete.

This entry describes 6 isoformsⁱ produced by alternative splicing. Align Add to basket Added to basket

Note: Additional isoforms seem to exist.

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

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

« 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 PEPSPSQKVS LKDRVFSSPR GVAAKGKGSP QAQTVRRSPS 
       460        470        480        490        500
ADQSLEDSPS KVPKSWSFGD RSRARQAFRI KGAASRQNSE EASLPGEDIV 
       510        520        530        540        550
DDKSCPCEFV TEDLTPGLKV SIRAVCVMRF LVSKRKFKES LRPYDVMDVI 
       560        570        580        590        600
EQYSAGHLDM LSRIKSLQSR VDQIVGRGPA ITDKDRTKGP AEAELPEDPS 
       610        620        630        640        650
MMGRLGKVEK QVLSMEKKLD FLVNIYMQRM GIPPTETEAY FGAKEPEPAP 
       660        670        680        690        700
PYHSPEDSRE HVDRHGCIVK IVRSSSSTGQ KNFSAPPAAP PVQCPPSTSW 
       710        720        730        740        750
QPQSHPRQGH GTSPVGDHGS LVRIPPPPAH ERSLSAYGGG NRASMEFLRQ 
       760        770        780        790        800
EDTPGCRPPE GNLRDSDTSI SIPSVDHEEL ERSFSGFSIS QSKENLDALN 
       810        820        830        840        850
SCYAAVAPCA KVRPYIAEGE SDTDSDLCTP CGPPPRSATG EGPFGDVGWA 

GPRK

Show »

Length:854

Mass (Da):94,100

Checksum:ⁱCF3F5EC2E23E21FC

GO

Isoform 3 (identifier: O43526-3) [UniParc]FASTA Add to basket

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

« 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 MYRLIPPLNQ LELLRNLKSK SGLAFRKDPP 
       410        420        430        440        450
PEPSPSQKVS LKDRVFSSPR GVAAKGKGSP QAQTVRRSPS ADQSLEDSPS 
       460        470        480        490        500
KVPKSWSFGD RSRARQAFRI KGAASRQNSE EASLPGEDIV DDKSCPCEFV 
       510        520        530        540        550
TEDLTPGLKV SIRAVCVMRF LVSKRKFKES LRPYDVMDVI EQYSAGHLDM 
       560        570        580        590        600
LSRIKSLQSR VDQIVGRGPA ITDKDRTKGP AEAELPEDPS MMGRLGKVEK 
       610        620        630        640        650
QVLSMEKKLD FLVNIYMQRM GIPPTETEAY FGAKEPEPAP PYHSPEDSRE 
       660        670        680        690        700
HVDRHGCIVK IVRSSSSTGQ KNFSAPPAAP PVQCPPSTSW QPQSHPRQGH 
       710        720        730        740        750
GTSPVGDHGS LVRIPPPPAH ERSLSAYGGG NRASMEFLRQ EDTPGCRPPE 
       760        770        780        790        800
GNLRDSDTSI SIPSVDHEEL ERSFSGFSIS QSKENLDALN SCYAAVAPCA 
       810        820        830        840 
KVRPYIAEGE SDTDSDLCTP CGPPPRSATG EGPFGDVGWA GPRK

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]FASTA Add to basket

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

« 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 PEPSPSPRGV AAKGKGSPQA QTVRRSPSAD QSLEDSPSKV 
       460        470        480        490        500
PKSWSFGDRS RARQAFRIKG AASRQNSEAS LPGEDIVDDK SCPCEFVTED 
       510        520        530        540        550
LTPGLKVSIR AVCVMRFLVS KRKFKESLRP YDVMDVIEQY SAGHLDMLSR 
       560        570        580        590        600
IKSLQSRVDQ IVGRGPAITD KDRTKGPAEA ELPEDPSMMG RLGKVEKQVL 
       610        620        630        640        650
SMEKKLDFLV NIYMQRMGIP PTETEAYFGA KEPEPAPPYH SPEDSREHVD 
       660        670        680        690        700
RHGCIVKIVR SSSSTGQKNF SAPPAAPPVQ CPPSTSWQPQ SHPRQGHGTS 
       710        720        730        740        750
PVGDHGSLVR IPPPPAHERS LSAYGGGNRA SMEFLRQEDT PGCRPPEGNL 
       760        770        780        790        800
RDSDTSISIP SVDHEELERS FSGFSISQSK ENLDALNSCY AAVAPCAKVR 
       810        820        830        840 
PYIAEGESDT DSDLCTPCGP PPRSATGEGP FGDVGWAGPR K

Show »

Length:841

Mass (Da):92,596

Checksum:ⁱ065E37AF63726B10

GO

Isoform 5 (identifier: O43526-5) [UniParc]FASTA Add to basket

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

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        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
GVSFFALPAQ EQHRQKHFEK RRNPAAGLIQ SAWRFYATNL SRTDLHSTWQ 
       360        370        380        390        400
YYERTVTVPM YSSQTQTYGA SRLIPPLNQL ELLRNLKSKS GLAFRKDPPP 
       410        420        430        440        450
EPSPSQKVSL KDRVFSSPRG VAAKGKGSPQ AQTVRRSPSA DQSLEDSPSK 
       460        470        480        490        500
VPKSWSFGDR SRARQAFRIK GAASRQNSEE ASLPGEDIVD DKSCPCEFVT 
       510        520        530        540        550
EDLTPGLKVS IRAVCVMRFL VSKRKFKESL RPYDVMDVIE QYSAGHLDML 
       560        570        580        590        600
SRIKSLQSRV DQIVGRGPAI TDKDRTKGPA EAELPEDPSM MGRLGKVEKQ 
       610        620        630        640        650
VLSMEKKLDF LVNIYMQRMG IPPTETEAYF GAKEPEPAPP YHSPEDSREH 
       660        670        680        690        700
VDRHGCIVKI VRSSSSTGQK NFSAPPAAPP VQCPPSTSWQ PQSHPRQGHG 
       710        720        730        740        750
TSPVGDHGSL VRIPPPPAHE RSLSAYGGGN RASMEFLRQE DTPGCRPPEG 
       760        770        780        790        800
NLRDSDTSIS IPSVDHEELE RSFSGFSISQ SKENLDALNS CYAAVAPCAK 
       810        820        830        840 
VRPYIAEGES DTDSDLCTPC GPPPRSATGE GPFGDVGWAG PRK

Show »

Length:843

Mass (Da):93,057

Checksum:ⁱAF6F5146789F4167

GO

Isoform 6 (identifier: O43526-6) [UniParc]FASTA Add 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.

« 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 
LSRTDLHSTW QYYERTVTVP MYRYRRRAPA TKQLFHFLFS ICS

Show »

Length:393

Mass (Da):44,261

Checksum:ⁱ9415BC4FC2F84675

GO

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	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: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:rs397514581EnsemblClinVar.	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:rs1057516089Ensembl.	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:rs1057516091Ensembl.	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: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:rs28939683EnsemblClinVar.	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:rs118192211EnsemblClinVar.	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: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: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: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: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: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	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
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS13518.1 [O43526-3] CCDS13519.1 [O43526-2] CCDS13520.1 [O43526-1] CCDS13521.1 [O43526-6] CCDS46629.1 [O43526-4]
PIRⁱ	JC5275
NCBI Reference Sequences More...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
UCSC genome browser More...UCSCⁱ	uc002yey.2 human [O43526-1]

Keywords - Coding sequence diversityⁱ

Alternative splicing, Polymorphism

Similar proteinsⁱ

90% Identity
50% Identity

Protein	Similar proteins		Species	Score	Length
O43526	UPI00045DDD11		CHLSB		886
UPI000D0A5EAF		PANTR		886
UPI000809AB0D		Cebus capucinus imitator		884
UPI0007115D82		ALLMI		875
Potassium voltage-gated channel subfamily Q member 2		MONDO		874
+61
O43526-2	Potassium voltage-gated channel subfamily Q member 2		CHICK		925
UPI000529F39E		Macqueen's bustard		173
Potassium voltage-gated channel subfamily KQT member 2 (Fragment)		yellow-throated sandgrouse		64
Potassium voltage-gated channel subfamily KQT member 2 (Fragment)		TYTAL		61
Potassium voltage-gated channel subfamily KQT member 2 (Fragment)		FULGA		79
+216
O43526-3	Potassium voltage-gated channel subfamily Q member 2		CHICK		925
UPI000529F39E		Macqueen's bustard		173
Potassium voltage-gated channel subfamily KQT member 2 (Fragment)		yellow-throated sandgrouse		64
Potassium voltage-gated channel subfamily KQT member 2 (Fragment)		TYTAL		61
Potassium voltage-gated channel subfamily KQT member 2 (Fragment)		FULGA		79
+216
O43526-4	Potassium voltage-gated channel subfamily Q member 2		CHICK		925
UPI000529F39E		Macqueen's bustard		173
Potassium voltage-gated channel subfamily KQT member 2 (Fragment)		yellow-throated sandgrouse		64
Potassium voltage-gated channel subfamily KQT member 2 (Fragment)		TYTAL		61
Potassium voltage-gated channel subfamily KQT member 2 (Fragment)		FULGA		79
+216
O43526-5	Potassium voltage-gated channel subfamily Q member 2		CALJA		853
UPI00045E3959		Orycteropus afer afer		850
Potassium voltage-gated channel subfamily Q member 2		AOTNA		849
UPI0004421C18		LIPVE		846
UPI000BB7E6DB		DELLE		846
+64
O43526-6	cDNA FLJ60440, highly similar to Potassium voltage-gated channel subfamily KQT member 2		HUMAN		446
UPI000BB5033B		Enhydra lutris kenyoni		444
UPI0005FB73FD		Odocoileus virginianus texanus		436
UPI000A2B86B3		PIG		436
UPI000BB77E8C		DELLE		436
+14

Protein	Similar proteins		Species	Score	Length
O43526	UPI00045DDD11		CHLSB		886
UPI000D0A5EAF		PANTR		886
UPI000809AB0D		Cebus capucinus imitator		884
UPI0007115D82		ALLMI		875
Potassium voltage-gated channel subfamily Q member 2		MONDO		874
+435
O43526-2	Potassium voltage-gated channel subfamily Q member 2		CHICK		925
UPI000529F39E		Macqueen's bustard		173
Potassium voltage-gated channel subfamily KQT member 2 (Fragment)		yellow-throated sandgrouse		64
Potassium voltage-gated channel subfamily KQT member 2 (Fragment)		TYTAL		61
Potassium voltage-gated channel subfamily KQT member 2 (Fragment)		FULGA		79
+225
O43526-3	Potassium voltage-gated channel subfamily Q member 2		CHICK		925
UPI000529F39E		Macqueen's bustard		173
Potassium voltage-gated channel subfamily KQT member 2 (Fragment)		yellow-throated sandgrouse		64
Potassium voltage-gated channel subfamily KQT member 2 (Fragment)		TYTAL		61
Potassium voltage-gated channel subfamily KQT member 2 (Fragment)		FULGA		79
+225
O43526-4	Potassium voltage-gated channel subfamily Q member 2		CHICK		925
UPI000529F39E		Macqueen's bustard		173
Potassium voltage-gated channel subfamily KQT member 2 (Fragment)		yellow-throated sandgrouse		64
Potassium voltage-gated channel subfamily KQT member 2 (Fragment)		TYTAL		61
Potassium voltage-gated channel subfamily KQT member 2 (Fragment)		FULGA		79
+225
O43526-5	Potassium voltage-gated channel subfamily Q member 2		CALJA		853
UPI00045E3959		Orycteropus afer afer		850
Potassium voltage-gated channel subfamily Q member 2		AOTNA		849
UPI000BB9AC60		DELLE		846
UPI0004421C18		LIPVE		846
+256
O43526-6	cDNA FLJ60440, highly similar to Potassium voltage-gated channel subfamily KQT member 2		HUMAN		446
UPI000BB5033B		Enhydra lutris kenyoni		444
UPI0005FB73FD		Odocoileus virginianus texanus		436
UPI000BB77E8C		DELLE		436
UPI000A2B86B3		PIG		436
+36

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
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS13518.1 [O43526-3] CCDS13519.1 [O43526-2] CCDS13520.1 [O43526-1] CCDS13521.1 [O43526-6] CCDS46629.1 [O43526-4]
PIRⁱ	JC5275
NCBI Reference Sequences More...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

3D structure databases

Select the link destinations: Protein Data Bank Europe More...PDBeⁱ Protein Data Bank RCSB More...RCSB PDBⁱ Protein Data Bank Japan More...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	[»]
ProteinModelPortalⁱ	O43526
SMRⁱ	O43526
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Protein-protein interaction databases

BioGridⁱ	109986, 7 interactors
CORUMⁱ	O43526
IntActⁱ	O43526, 1 interactor
STRINGⁱ	9606.ENSP00000352035

Chemistry databases

BindingDBⁱ	O43526
ChEMBLⁱ	CHEMBL2476
Drug and drug target database More...DrugBankⁱ	DB00321 Amitriptyline DB00586 Diclofenac DB04953 Ezogabine DB06089 ICA-105665 DB00939 Meclofenamic acid
IUPHAR/BPS Guide to PHARMACOLOGY More...GuidetoPHARMACOLOGYⁱ	561

Protein family/group databases

TCDBⁱ	1.A.1.15.2 the voltage-gated ion channel (vic) superfamily

TCDBⁱ

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

PTM databases

iPTMnetⁱ	O43526
PhosphoSitePlusⁱ	O43526

Polymorphism and mutation databases

BioMutaⁱ	KCNQ2

BioMutaⁱ

KCNQ2

Proteomic databases

PaxDbⁱ	O43526
PeptideAtlas More...PeptideAtlasⁱ	O43526
PRIDEⁱ	O43526
ProteomicsDBⁱ	49031 49032 [O43526-2] 49033 [O43526-3] 49034 [O43526-4] 49035 [O43526-5] 49036 [O43526-6]

Protocols and materials databases

The DNASU plasmid repository More...DNASUⁱ	3785
Structural Biology Knowledgebase	Search...

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
UCSC genome browser More...UCSCⁱ	uc002yey.2 human [O43526-1]

Organism-specific databases

CTDⁱ	3785
DisGeNET More...DisGeNETⁱ	3785
EuPathDBⁱ	HostDB:ENSG00000075043.17
GeneCardsⁱ	KCNQ2
GeneReviewsⁱ	KCNQ2
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:6296 KCNQ2
Human Protein Atlas More...HPAⁱ	HPA016642 HPA057112
MalaCards human disease database More...MalaCardsⁱ	KCNQ2
MIMⁱ	121200 phenotype 602235 gene 613720 phenotype
neXtProtⁱ	NX_O43526
Open Targets More...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
GenAtlas: human gene database More...GenAtlasⁱ	Search...

Phylogenomic databases

eggNOGⁱ	KOG1419 Eukaryota COG1226 LUCA
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00550000074513
HOVERGENⁱ	HBG059014
InParanoidⁱ	O43526
KEGG Orthology (KO) More...KOⁱ	K04927
OMAⁱ	VTVPMYS
Database of Orthologous Groups More...OrthoDBⁱ	EOG091G02ZT
PhylomeDBⁱ	O43526
TreeFamⁱ	TF315186

Enzyme and pathway databases

Reactomeⁱ	R-HSA-1296072 Voltage gated Potassium channels R-HSA-445095 Interaction between L1 and Ankyrins
SIGNORⁱ	O43526

Miscellaneous databases

ChiTaRSⁱ	KCNQ2 human
GeneWikiⁱ	KvLQT2
GenomeRNAiⁱ	3785
Protein Ontology More...PROⁱ	PR:O43526
SOURCEⁱ	Search...

Gene expression databases

Bgeeⁱ	ENSG00000075043
CleanExⁱ	HS_KCNQ2
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
Pfam protein domain database More...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
ProtoNetⁱ	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:	June 20, 2018
	This is version 196 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, Complete proteome, Reference proteome

Documents

Human chromosome 20
Human chromosome 20: entries, gene names and cross-references to MIM
Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations
Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations
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

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UniProtKB - O43526 (KCNQ2_HUMAN)

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Potassium voltage-gated channel subfamily KQT member 2

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<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Miscellaneous

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Biological processi

Enzyme and pathway databases

Protein family/group databases

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

Organism-specific databases

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Plasma membrane

Plasma Membrane

Other locations

Topology

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Mutagenesis

Organism-specific databases

Chemistry databases

Polymorphism and mutation databases

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Amino acid modifications

Proteomic databases

PTM databases

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Organism-specific databases

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Protein-protein interaction databases

Chemistry databases

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

3D structure databases

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Region

Motif

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Phylogenomic databases

Family and domain databases

Experimental Info

Natural variant

Alternative sequence

Sequence databases

Genome annotation databases

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

3D structure databases

Protein-protein interaction databases

Chemistry databases

Protein family/group databases

PTM databases

Polymorphism and mutation databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Enzyme and pathway databases

Miscellaneous databases

Gene expression databases

Family and domain databases

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Documents

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Functionⁱ

GO - Molecular functionⁱ

GO - Biological processⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

Pathology & Biotechⁱ

PTM / Processingⁱ

Expressionⁱ

Interactionⁱ

GO - Molecular functionⁱ

Structureⁱ

Family & Domainsⁱ

Sequence similaritiesⁱ

Cross-referencesⁱ

Entry informationⁱ

Miscellaneousⁱ