KCNQ2

Functionⁱ

Probably important in the regulation of neuronal excitability. 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. KCNQ2/KCNQ3 current is blocked by linopirdine and XE991, and activated by the anticonvulsant retigabine. Muscarinic agonist oxotremorine-M strongly suppress KCNQ2/KCNQ3 current in cells in which cloned KCNQ2/KCNQ3 channels were coexpressed with M1 muscarinic receptors.

GO - Molecular functionⁱ

ankyrin binding
Source: BHF-UCL
Inferred from physical interactionⁱ
- 16525039
delayed rectifier potassium channel activity Source: GO_Central
potassium channel activity
Source: ProtInc
Traceable author statementⁱ
- 9430594
voltage-gated potassium channel activity
Source: ProtInc
Traceable author statementⁱ
- 9677360

GO - Biological processⁱ

chemical synaptic transmission
Source: ProtInc
Traceable author statementⁱ
- 9425895
nervous system development
Source: ProtInc
Traceable author statementⁱ
- 9425895
potassium ion transport
Source: ProtInc
Traceable author statementⁱ
- 9677360

Complete GO annotation...

Enzyme and pathway databases

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

Reactomeⁱ

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

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 2 Alternative name(s): KQT-like 2 Neuroblastoma-specific potassium channel subunit alpha KvLQT2 Voltage-gated potassium channel subunit Kv7.2
Gene namesⁱ	Name:KCNQ2
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

HGNCⁱ	HGNC:6296. KCNQ2.

HGNCⁱ

HGNC:6296. KCNQ2.

Subcellular locationⁱ

Membrane; Multi-pass membrane protein

Topology

Feature key	Position(s)	Length	Description	Actions
Transmembraneⁱ	92 – 112	21	Helical; Name=Segment S1Sequence analysis	Add BLAST
Topological domainⁱ	113 – 122	10	ExtracellularSequence analysis
Transmembraneⁱ	123 – 143	21	Helical; Name=Segment S2Sequence analysis	Add BLAST
Topological domainⁱ	144 – 166	23	CytoplasmicSequence analysis	Add BLAST
Transmembraneⁱ	167 – 187	21	Helical; Name=Segment S3Sequence analysis	Add BLAST
Topological domainⁱ	188 – 195	8	ExtracellularSequence analysis
Transmembraneⁱ	196 – 218	23	Helical; Voltage-sensor; Name=Segment S4Sequence analysis	Add BLAST
Topological domainⁱ	219 – 231	13	CytoplasmicSequence analysis	Add BLAST
Transmembraneⁱ	232 – 252	21	Helical; Name=Segment S5Sequence analysis	Add BLAST
Topological domainⁱ	253 – 264	12	ExtracellularSequence analysis	Add BLAST
Intramembraneⁱ	265 – 285	21	Pore-forming; Name=Segment H5Sequence analysis	Add BLAST
Topological domainⁱ	286 – 291	6	ExtracellularSequence analysis
Transmembraneⁱ	292 – 312	21	Helical; Name=Segment S6Sequence analysis	Add BLAST
Topological domainⁱ	313 – 872	560	CytoplasmicSequence analysis	Add BLAST

GO - Cellular componentⁱ

axon initial segment
Source: BHF-UCL
Inferred from sequence or structural similarityⁱ
- 16525039
node of Ranvier
Source: BHF-UCL
Inferred from sequence or structural similarityⁱ
- 16525039
plasma membrane
Source: BHF-UCL
Inferred from sequence or structural similarityⁱ
- 16525039
voltage-gated potassium channel complex
Source: ProtInc
Traceable author statementⁱ
- 9677360

Complete GO annotation...

Keywords - Cellular componentⁱ

Membrane

Pathology & Biotechⁱ

Involvement in diseaseⁱ

Seizures, benign familial neonatal 1 (BFNS1)5 Publications
Manual assertion based on experiment inⁱ
Ref.2
"A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns."
Singh N.A., Charlier C., Stauffer D., DuPont B.R., Leach R.J., Melis R., Ronen G.M., Bjerre I., Quattlebaum T., Murphy J.V., McHarg M.L., Gagnon D., Rosales T.O., Peiffer A., Anderson V.E., Leppert M.
Nat. Genet. 18:25-29(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANTS BFNS1 CYS-284 AND THR-306.
Ref.23
"Benign familial neonatal convulsions (BFNC) resulting from mutation of the KCNQ2 voltage sensor."
Miraglia del Giudice E., Coppola G., Scuccimarra G., Cirillo G., Bellini G., Pascotto A.
Eur. J. Hum. Genet. 8:994-997(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT BFNS1 TRP-214.
Ref.24
"Myokymia and neonatal epilepsy caused by a mutation in the voltage sensor of the KCNQ2 K+ channel."
Dedek K., Kunath B., Kananura C., Reuner U., Jentsch T.J., Steinlein O.K.
Proc. Natl. Acad. Sci. U.S.A. 98:12272-12277(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT BFNS1 TRP-207, CHARACTERIZATION OF VARIANT BFNS1 TRP-207.
Ref.25
"KCNQ2 and KCNQ3 potassium channel genes in benign familial neonatal convulsions: expansion of the functional and mutation spectrum."
The BFNC physician consortium
Singh N.A., Westenskow P., Charlier C., Pappas C., Leslie J., Dillon J., Anderson V.E., Sanguinetti M.C., Leppert M.F.
Brain 126:2726-2737(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS BFNS1 VAL-208; GLN-228; PHE-243; CYS-284; THR-306 AND GLN-333, CHARACTERIZATION OF VARIANTS BFNS1 VAL-208 AND GLN-333.
Ref.27
"A novel mutation in KCNQ2 associated with BFNC, drug resistant epilepsy, and mental retardation."
Borgatti R., Zucca C., Cavallini A., Ferrario M., Panzeri C., Castaldo P., Soldovieri M.V., Baschirotto C., Bresolin N., Dalla Bernardina B., Taglialatela M., Bassi M.T.
Neurology 63:57-65(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT BFNS1 ASN-554, VARIANT EIEE7 ASN-554, CHARACTERIZATION OF VARIANT BFNS1 ASN-554.

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.

Feature key	Position(s)	Length	Description	Feature identifier
Natural variantⁱ	207 – 207	1	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 Publication Manual assertion based on experiment inⁱ Ref.24 "Myokymia and neonatal epilepsy caused by a mutation in the voltage sensor of the KCNQ2 K+ channel." Dedek K., Kunath B., Kananura C., Reuner U., Jentsch T.J., Steinlein O.K. Proc. Natl. Acad. Sci. U.S.A. 98:12272-12277(2001) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT BFNS1 TRP-207, CHARACTERIZATION OF VARIANT BFNS1 TRP-207. Corresponds to variant rs74315391 [ dbSNP \| Ensembl ].	VAR_026987
Natural variantⁱ	208 – 208	1	M → V in BFNS1; minor effect on maximal current but clearly exhibits a faster rate of deactivation. 1 Publication Manual assertion based on experiment inⁱ Ref.25 "KCNQ2 and KCNQ3 potassium channel genes in benign familial neonatal convulsions: expansion of the functional and mutation spectrum." The BFNC physician consortium Singh N.A., Westenskow P., Charlier C., Pappas C., Leslie J., Dillon J., Anderson V.E., Sanguinetti M.C., Leppert M.F. Brain 126:2726-2737(2003) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS BFNS1 VAL-208; GLN-228; PHE-243; CYS-284; THR-306 AND GLN-333, CHARACTERIZATION OF VARIANTS BFNS1 VAL-208 AND GLN-333. Corresponds to variant rs118192201 [ dbSNP \| Ensembl ].	VAR_026988
Natural variantⁱ	214 – 214	1	R → W in BFNS1. 1 Publication Manual assertion based on experiment inⁱ Ref.23 "Benign familial neonatal convulsions (BFNC) resulting from mutation of the KCNQ2 voltage sensor." Miraglia del Giudice E., Coppola G., Scuccimarra G., Cirillo G., Bellini G., Pascotto A. Eur. J. Hum. Genet. 8:994-997(2000) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT BFNS1 TRP-214. Corresponds to variant rs28939684 [ dbSNP \| Ensembl ].	VAR_010929
Natural variantⁱ	228 – 228	1	H → Q in BFNS1. 1 Publication Manual assertion based on experiment inⁱ Ref.25 "KCNQ2 and KCNQ3 potassium channel genes in benign familial neonatal convulsions: expansion of the functional and mutation spectrum." The BFNC physician consortium Singh N.A., Westenskow P., Charlier C., Pappas C., Leslie J., Dillon J., Anderson V.E., Sanguinetti M.C., Leppert M.F. Brain 126:2726-2737(2003) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS BFNS1 VAL-208; GLN-228; PHE-243; CYS-284; THR-306 AND GLN-333, CHARACTERIZATION OF VARIANTS BFNS1 VAL-208 AND GLN-333. Corresponds to variant rs118192204 [ dbSNP \| Ensembl ].	VAR_026989
Natural variantⁱ	243 – 243	1	L → F in BFNS1. 1 Publication Manual assertion based on experiment inⁱ Ref.25 "KCNQ2 and KCNQ3 potassium channel genes in benign familial neonatal convulsions: expansion of the functional and mutation spectrum." The BFNC physician consortium Singh N.A., Westenskow P., Charlier C., Pappas C., Leslie J., Dillon J., Anderson V.E., Sanguinetti M.C., Leppert M.F. Brain 126:2726-2737(2003) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS BFNS1 VAL-208; GLN-228; PHE-243; CYS-284; THR-306 AND GLN-333, CHARACTERIZATION OF VARIANTS BFNS1 VAL-208 AND GLN-333. Corresponds to variant rs118192205 [ dbSNP \| Ensembl ].	VAR_026990
Natural variantⁱ	284 – 284	1	Y → C in BFNS1; 30%-60% reduction of wt current in heteromeric channels. 3 Publications Manual assertion based on experiment inⁱ Ref.2 "A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns." Singh N.A., Charlier C., Stauffer D., DuPont B.R., Leach R.J., Melis R., Ronen G.M., Bjerre I., Quattlebaum T., Murphy J.V., McHarg M.L., Gagnon D., Rosales T.O., Peiffer A., Anderson V.E., Leppert M. Nat. Genet. 18:25-29(1998) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANTS BFNS1 CYS-284 AND THR-306. Ref.10 "Moderate loss of function of cyclic-AMP-modulated KCNQ2/KCNQ3 K+ channels causes epilepsy." Schroeder B.C., Kubisch C., Stein V., Jentsch T.J. Nature 396:687-690(1998) [PubMed] [Europe PMC] [Abstract] Cited for: MUTAGENESIS OF SER-52 AND GLY-279, PHOSPHORYLATION AT SER-52, CHARACTERIZATION OF VARIANTS CYS-284 AND THR-306. Ref.25 "KCNQ2 and KCNQ3 potassium channel genes in benign familial neonatal convulsions: expansion of the functional and mutation spectrum." The BFNC physician consortium Singh N.A., Westenskow P., Charlier C., Pappas C., Leslie J., Dillon J., Anderson V.E., Sanguinetti M.C., Leppert M.F. Brain 126:2726-2737(2003) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS BFNS1 VAL-208; GLN-228; PHE-243; CYS-284; THR-306 AND GLN-333, CHARACTERIZATION OF VARIANTS BFNS1 VAL-208 AND GLN-333. Corresponds to variant rs28939683 [ dbSNP \| Ensembl ].	VAR_010930
Natural variantⁱ	306 – 306	1	A → T in BFNS1; 20%-40% reduction of wt current in heteromeric channels. 3 Publications Manual assertion based on experiment inⁱ Ref.2 "A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns." Singh N.A., Charlier C., Stauffer D., DuPont B.R., Leach R.J., Melis R., Ronen G.M., Bjerre I., Quattlebaum T., Murphy J.V., McHarg M.L., Gagnon D., Rosales T.O., Peiffer A., Anderson V.E., Leppert M. Nat. Genet. 18:25-29(1998) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANTS BFNS1 CYS-284 AND THR-306. Ref.10 "Moderate loss of function of cyclic-AMP-modulated KCNQ2/KCNQ3 K+ channels causes epilepsy." Schroeder B.C., Kubisch C., Stein V., Jentsch T.J. Nature 396:687-690(1998) [PubMed] [Europe PMC] [Abstract] Cited for: MUTAGENESIS OF SER-52 AND GLY-279, PHOSPHORYLATION AT SER-52, CHARACTERIZATION OF VARIANTS CYS-284 AND THR-306. Ref.25 "KCNQ2 and KCNQ3 potassium channel genes in benign familial neonatal convulsions: expansion of the functional and mutation spectrum." The BFNC physician consortium Singh N.A., Westenskow P., Charlier C., Pappas C., Leslie J., Dillon J., Anderson V.E., Sanguinetti M.C., Leppert M.F. Brain 126:2726-2737(2003) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS BFNS1 VAL-208; GLN-228; PHE-243; CYS-284; THR-306 AND GLN-333, CHARACTERIZATION OF VARIANTS BFNS1 VAL-208 AND GLN-333. Corresponds to variant rs74315390 [ dbSNP \| Ensembl ].	VAR_010931
Natural variantⁱ	333 – 333	1	R → Q in BFNS1; moderate effect; less than 50% reduction in current compared with wt heteromeric channels. 1 Publication Manual assertion based on experiment inⁱ Ref.25 "KCNQ2 and KCNQ3 potassium channel genes in benign familial neonatal convulsions: expansion of the functional and mutation spectrum." The BFNC physician consortium Singh N.A., Westenskow P., Charlier C., Pappas C., Leslie J., Dillon J., Anderson V.E., Sanguinetti M.C., Leppert M.F. Brain 126:2726-2737(2003) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS BFNS1 VAL-208; GLN-228; PHE-243; CYS-284; THR-306 AND GLN-333, CHARACTERIZATION OF VARIANTS BFNS1 VAL-208 AND GLN-333. Corresponds to variant rs118192216 [ dbSNP \| Ensembl ].	VAR_026992
Natural variantⁱ	554 – 554	1	K → N in BFNS1 and EIEE7; decreases the voltage-dependence of the channel. 1 Publication Manual assertion based on experiment inⁱ Ref.27 "A novel mutation in KCNQ2 associated with BFNC, drug resistant epilepsy, and mental retardation." Borgatti R., Zucca C., Cavallini A., Ferrario M., Panzeri C., Castaldo P., Soldovieri M.V., Baschirotto C., Bresolin N., Dalla Bernardina B., Taglialatela M., Bassi M.T. Neurology 63:57-65(2004) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT BFNS1 ASN-554, VARIANT EIEE7 ASN-554, CHARACTERIZATION OF VARIANT BFNS1 ASN-554. Corresponds to variant rs267607198 [ dbSNP \| Ensembl ].	VAR_026993

Epileptic encephalopathy, early infantile, 7 (EIEE7)2 Publications
Manual assertion based on experiment inⁱ
Ref.26
"Neonatal convulsions and epileptic encephalopathy in an Italian family with a missense mutation in the fifth transmembrane region of KCNQ2."
Dedek K., Fusco L., Teloy N., Steinlein O.K.
Epilepsy Res. 54:21-27(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT EIEE7 TRP-247, CHARACTERIZATION OF VARIANT EIEE7 TRP-247.
Ref.27
"A novel mutation in KCNQ2 associated with BFNC, drug resistant epilepsy, and mental retardation."
Borgatti R., Zucca C., Cavallini A., Ferrario M., Panzeri C., Castaldo P., Soldovieri M.V., Baschirotto C., Bresolin N., Dalla Bernardina B., Taglialatela M., Bassi M.T.
Neurology 63:57-65(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT BFNS1 ASN-554, VARIANT EIEE7 ASN-554, CHARACTERIZATION OF VARIANT BFNS1 ASN-554.

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)	Length	Description	Graphical view	Feature identifier	Actions
Natural variantⁱ	247 – 247	1	S → W in EIEE7; reduces channel currents by more than 50% in homomeric channels. 1 Publication Manual assertion based on experiment inⁱ Ref.26 "Neonatal convulsions and epileptic encephalopathy in an Italian family with a missense mutation in the fifth transmembrane region of KCNQ2." Dedek K., Fusco L., Teloy N., Steinlein O.K. Epilepsy Res. 54:21-27(2003) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT EIEE7 TRP-247, CHARACTERIZATION OF VARIANT EIEE7 TRP-247. Corresponds to variant rs74315392 [ dbSNP \| Ensembl ].		VAR_026991
Natural variantⁱ	554 – 554	1	K → N in BFNS1 and EIEE7; decreases the voltage-dependence of the channel. 1 Publication Manual assertion based on experiment inⁱ Ref.27 "A novel mutation in KCNQ2 associated with BFNC, drug resistant epilepsy, and mental retardation." Borgatti R., Zucca C., Cavallini A., Ferrario M., Panzeri C., Castaldo P., Soldovieri M.V., Baschirotto C., Bresolin N., Dalla Bernardina B., Taglialatela M., Bassi M.T. Neurology 63:57-65(2004) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT BFNS1 ASN-554, VARIANT EIEE7 ASN-554, CHARACTERIZATION OF VARIANT BFNS1 ASN-554. Corresponds to variant rs267607198 [ dbSNP \| Ensembl ].		VAR_026993

Mutagenesis

Feature key	Position(s)	Length	Description
Mutagenesisⁱ	52 – 52	1	S → E: 40% increase in potassium current amplitude. Ratio of 1:1. 1 Publication Manual assertion based on experiment inⁱ Ref.10 "Moderate loss of function of cyclic-AMP-modulated KCNQ2/KCNQ3 K+ channels causes epilepsy." Schroeder B.C., Kubisch C., Stein V., Jentsch T.J. Nature 396:687-690(1998) [PubMed] [Europe PMC] [Abstract] Cited for: MUTAGENESIS OF SER-52 AND GLY-279, PHOSPHORYLATION AT SER-52, CHARACTERIZATION OF VARIANTS CYS-284 AND THR-306.
Mutagenesisⁱ	52 – 52	1	S → Q: Decrease of PKA stimulation. Ratio of 1:1. 1 Publication Manual assertion based on experiment inⁱ Ref.10 "Moderate loss of function of cyclic-AMP-modulated KCNQ2/KCNQ3 K+ channels causes epilepsy." Schroeder B.C., Kubisch C., Stein V., Jentsch T.J. Nature 396:687-690(1998) [PubMed] [Europe PMC] [Abstract] Cited for: MUTAGENESIS OF SER-52 AND GLY-279, PHOSPHORYLATION AT SER-52, CHARACTERIZATION OF VARIANTS CYS-284 AND THR-306.
Mutagenesisⁱ	217 – 217	1	T → A: No effect on current or expression. 1 Publication Manual assertion based on experiment inⁱ Ref.21 "Identification by mass spectrometry and functional characterization of two phosphorylation sites of KCNQ2/KCNQ3 channels." Surti T.S., Huang L., Jan Y.N., Jan L.Y., Cooper E.C. Proc. Natl. Acad. Sci. U.S.A. 102:17828-17833(2005) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION AT THR-217, MUTAGENESIS OF THR-217.
Mutagenesisⁱ	217 – 217	1	T → D: Abolishes currents without reducing channel protein expression. 1 Publication Manual assertion based on experiment inⁱ Ref.21 "Identification by mass spectrometry and functional characterization of two phosphorylation sites of KCNQ2/KCNQ3 channels." Surti T.S., Huang L., Jan Y.N., Jan L.Y., Cooper E.C. Proc. Natl. Acad. Sci. U.S.A. 102:17828-17833(2005) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION AT THR-217, MUTAGENESIS OF THR-217.
Mutagenesisⁱ	279 – 279	1	G → S: More than 50% reduction of wt heteromeric current. Ratio of 1:1 and 1:1:2. 1 Publication Manual assertion based on experiment inⁱ Ref.10 "Moderate loss of function of cyclic-AMP-modulated KCNQ2/KCNQ3 K+ channels causes epilepsy." Schroeder B.C., Kubisch C., Stein V., Jentsch T.J. Nature 396:687-690(1998) [PubMed] [Europe PMC] [Abstract] Cited for: MUTAGENESIS OF SER-52 AND GLY-279, PHOSPHORYLATION AT SER-52, CHARACTERIZATION OF VARIANTS CYS-284 AND THR-306.

Keywords - Diseaseⁱ

Disease mutation, Epilepsy, Mental retardation

Organism-specific databases

MalaCardsⁱ	KCNQ2.
MIMⁱ	121200. phenotype. 613720. phenotype.
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

ChEMBLⁱ	CHEMBL2221348.
DrugBankⁱ	DB00321. Amitriptyline. DB00586. Diclofenac. DB04953. Ezogabine. DB00939. Meclofenamic acid.
GuidetoPHARMACOLOGYⁱ	561.

Polymorphism and mutation databases

BioMutaⁱ	KCNQ2.

BioMutaⁱ

KCNQ2.

PTM / Processingⁱ

Molecule processing

Feature key	Position(s)	Length	Description	Graphical view	Feature identifier	Actions
Chainⁱ	1 – 872	872	Potassium voltage-gated channel subfamily KQT member 2		PRO_0000054030	Add BLAST

Amino acid modifications

Feature key	Position(s)	Length	Description
Modified residueⁱ	52 – 52	1	Phosphoserine; by PKA1 Publication Manual assertion based on experiment inⁱ Ref.10 "Moderate loss of function of cyclic-AMP-modulated KCNQ2/KCNQ3 K+ channels causes epilepsy." Schroeder B.C., Kubisch C., Stein V., Jentsch T.J. Nature 396:687-690(1998) [PubMed] [Europe PMC] [Abstract] Cited for: MUTAGENESIS OF SER-52 AND GLY-279, PHOSPHORYLATION AT SER-52, CHARACTERIZATION OF VARIANTS CYS-284 AND THR-306.
Modified residueⁱ	217 – 217	1	Phosphothreonine1 Publication Manual assertion based on experiment inⁱ Ref.21 "Identification by mass spectrometry and functional characterization of two phosphorylation sites of KCNQ2/KCNQ3 channels." Surti T.S., Huang L., Jan Y.N., Jan L.Y., Cooper E.C. Proc. Natl. Acad. Sci. U.S.A. 102:17828-17833(2005) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION AT THR-217, MUTAGENESIS OF THR-217.
Modified residueⁱ	466 – 466	1	PhosphoserineBy similarity Manual assertion inferred from sequence similarity toⁱ UniProtKB:Q9Z351 (KCNQ2_MOUSE)
Modified residueⁱ	468 – 468	1	PhosphoserineBy similarity Manual assertion inferred from sequence similarity toⁱ UniProtKB:Q9Z351 (KCNQ2_MOUSE)
Modified residueⁱ	472 – 472	1	PhosphoserineBy similarity Manual assertion inferred from sequence similarity toⁱ UniProtKB:Q9Z351 (KCNQ2_MOUSE)
Modified residueⁱ	476 – 476	1	PhosphoserineBy similarity Manual assertion inferred from sequence similarity toⁱ UniProtKB:Q9Z351 (KCNQ2_MOUSE)
Modified residueⁱ	478 – 478	1	PhosphoserineBy similarity Manual assertion inferred from sequence similarity toⁱ UniProtKB:Q9Z351 (KCNQ2_MOUSE)
Modified residueⁱ	507 – 507	1	PhosphoserineBy similarity Manual assertion inferred from sequence similarity toⁱ UniProtKB:O88943 (KCNQ2_RAT)
Modified residueⁱ	672 – 672	1	PhosphoserineBy similarity Manual assertion inferred from sequence similarity toⁱ UniProtKB:O88943 (KCNQ2_RAT)
Modified residueⁱ	801 – 801	1	PhosphoserineBy similarity Manual assertion inferred from sequence similarity toⁱ UniProtKB:O88943 (KCNQ2_RAT)
Modified residueⁱ	803 – 803	1	PhosphoserineBy similarity Manual assertion inferred from sequence similarity toⁱ UniProtKB:O88943 (KCNQ2_RAT)

Post-translational modificationⁱ

In Xenopus oocytes 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

PaxDbⁱ	O43526.
PeptideAtlasⁱ	O43526.
PRIDEⁱ	O43526.

PTM databases

iPTMnetⁱ	O43526.
PhosphoSiteⁱ	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

Heteromultimer with KCNQ3. May associate with KCNE2.

GO - Molecular functionⁱ

ankyrin binding
Source: BHF-UCL
Inferred from physical interactionⁱ
- 16525039

Protein-protein interaction databases

BioGridⁱ	109986. 6 interactions.
IntActⁱ	O43526. 1 interaction.
MINTⁱ	MINT-8402812.
STRINGⁱ	9606.ENSP00000352035.

Chemistry

BindingDBⁱ

O43526.

Structureⁱ

3D structure databases

ProteinModelPortalⁱ	O43526.
SMRⁱ	O43526. Positions 65-316.
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Family & Domainsⁱ

Motif

Feature key	Position(s)	Length	Description	Graphical view	Feature identifier	Actions
Motifⁱ	277 – 282	6	Selectivity filterBy similarity

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.
GeneTreeⁱ	ENSGT00550000074513.
HOVERGENⁱ	HBG059014.
InParanoidⁱ	O43526.
KOⁱ	K04927.
OMAⁱ	PRQGHGT.
OrthoDBⁱ	EOG091G02ZT.
PhylomeDBⁱ	O43526.
TreeFamⁱ	TF315186.

Family and domain databases

InterProⁱ	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. [Graphical view]
PANTHERⁱ	PTHR11537. PTHR11537. 4 hits.
Pfamⁱ	PF00520. Ion_trans. 1 hit. PF03520. KCNQ_channel. 1 hit. PF11956. KCNQC3-Ank-G_bd. 1 hit. [Graphical view]
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.

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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
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.

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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
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.

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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
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.

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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
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

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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.

« 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
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.

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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
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)	Length	Description	Graphical view	Feature identifier	Actions
Sequence conflictⁱ	699 – 699	1	K → E in AAD16988 (PubMed:9836639).Curated
Sequence conflictⁱ	854 – 854	1	R → C in AAD16988 (PubMed:9836639).Curated

Natural variant

Feature key	Position(s)	Length	Description	Feature identifier
Natural variantⁱ	207 – 207	1	R → Q Found in a patient with isolated myokymia; leads to a shift of voltage-dependent activation. 1 Publication Manual assertion based on experiment inⁱ Ref.28 "Peripheral nerve hyperexcitability due to dominant-negative KCNQ2 mutations." Wuttke T.V., Jurkat-Rott K., Paulus W., Garncarek M., Lehmann-Horn F., Lerche H. Neurology 69:2045-2053(2007) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT GLN-207, CHARACTERIZATION OF VARIANT GLN-207. Corresponds to variant rs118192200 [ dbSNP \| Ensembl ].	VAR_043819
Natural variantⁱ	207 – 207	1	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 Publication Manual assertion based on experiment inⁱ Ref.24 "Myokymia and neonatal epilepsy caused by a mutation in the voltage sensor of the KCNQ2 K+ channel." Dedek K., Kunath B., Kananura C., Reuner U., Jentsch T.J., Steinlein O.K. Proc. Natl. Acad. Sci. U.S.A. 98:12272-12277(2001) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT BFNS1 TRP-207, CHARACTERIZATION OF VARIANT BFNS1 TRP-207. Corresponds to variant rs74315391 [ dbSNP \| Ensembl ].	VAR_026987
Natural variantⁱ	208 – 208	1	M → V in BFNS1; minor effect on maximal current but clearly exhibits a faster rate of deactivation. 1 Publication Manual assertion based on experiment inⁱ Ref.25 "KCNQ2 and KCNQ3 potassium channel genes in benign familial neonatal convulsions: expansion of the functional and mutation spectrum." The BFNC physician consortium Singh N.A., Westenskow P., Charlier C., Pappas C., Leslie J., Dillon J., Anderson V.E., Sanguinetti M.C., Leppert M.F. Brain 126:2726-2737(2003) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS BFNS1 VAL-208; GLN-228; PHE-243; CYS-284; THR-306 AND GLN-333, CHARACTERIZATION OF VARIANTS BFNS1 VAL-208 AND GLN-333. Corresponds to variant rs118192201 [ dbSNP \| Ensembl ].	VAR_026988
Natural variantⁱ	214 – 214	1	R → W in BFNS1. 1 Publication Manual assertion based on experiment inⁱ Ref.23 "Benign familial neonatal convulsions (BFNC) resulting from mutation of the KCNQ2 voltage sensor." Miraglia del Giudice E., Coppola G., Scuccimarra G., Cirillo G., Bellini G., Pascotto A. Eur. J. Hum. Genet. 8:994-997(2000) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT BFNS1 TRP-214. Corresponds to variant rs28939684 [ dbSNP \| Ensembl ].	VAR_010929
Natural variantⁱ	228 – 228	1	H → Q in BFNS1. 1 Publication Manual assertion based on experiment inⁱ Ref.25 "KCNQ2 and KCNQ3 potassium channel genes in benign familial neonatal convulsions: expansion of the functional and mutation spectrum." The BFNC physician consortium Singh N.A., Westenskow P., Charlier C., Pappas C., Leslie J., Dillon J., Anderson V.E., Sanguinetti M.C., Leppert M.F. Brain 126:2726-2737(2003) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS BFNS1 VAL-208; GLN-228; PHE-243; CYS-284; THR-306 AND GLN-333, CHARACTERIZATION OF VARIANTS BFNS1 VAL-208 AND GLN-333. Corresponds to variant rs118192204 [ dbSNP \| Ensembl ].	VAR_026989
Natural variantⁱ	243 – 243	1	L → F in BFNS1. 1 Publication Manual assertion based on experiment inⁱ Ref.25 "KCNQ2 and KCNQ3 potassium channel genes in benign familial neonatal convulsions: expansion of the functional and mutation spectrum." The BFNC physician consortium Singh N.A., Westenskow P., Charlier C., Pappas C., Leslie J., Dillon J., Anderson V.E., Sanguinetti M.C., Leppert M.F. Brain 126:2726-2737(2003) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS BFNS1 VAL-208; GLN-228; PHE-243; CYS-284; THR-306 AND GLN-333, CHARACTERIZATION OF VARIANTS BFNS1 VAL-208 AND GLN-333. Corresponds to variant rs118192205 [ dbSNP \| Ensembl ].	VAR_026990
Natural variantⁱ	247 – 247	1	S → W in EIEE7; reduces channel currents by more than 50% in homomeric channels. 1 Publication Manual assertion based on experiment inⁱ Ref.26 "Neonatal convulsions and epileptic encephalopathy in an Italian family with a missense mutation in the fifth transmembrane region of KCNQ2." Dedek K., Fusco L., Teloy N., Steinlein O.K. Epilepsy Res. 54:21-27(2003) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT EIEE7 TRP-247, CHARACTERIZATION OF VARIANT EIEE7 TRP-247. Corresponds to variant rs74315392 [ dbSNP \| Ensembl ].	VAR_026991
Natural variantⁱ	284 – 284	1	Y → C in BFNS1; 30%-60% reduction of wt current in heteromeric channels. 3 Publications Manual assertion based on experiment inⁱ Ref.2 "A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns." Singh N.A., Charlier C., Stauffer D., DuPont B.R., Leach R.J., Melis R., Ronen G.M., Bjerre I., Quattlebaum T., Murphy J.V., McHarg M.L., Gagnon D., Rosales T.O., Peiffer A., Anderson V.E., Leppert M. Nat. Genet. 18:25-29(1998) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANTS BFNS1 CYS-284 AND THR-306. Ref.10 "Moderate loss of function of cyclic-AMP-modulated KCNQ2/KCNQ3 K+ channels causes epilepsy." Schroeder B.C., Kubisch C., Stein V., Jentsch T.J. Nature 396:687-690(1998) [PubMed] [Europe PMC] [Abstract] Cited for: MUTAGENESIS OF SER-52 AND GLY-279, PHOSPHORYLATION AT SER-52, CHARACTERIZATION OF VARIANTS CYS-284 AND THR-306. Ref.25 "KCNQ2 and KCNQ3 potassium channel genes in benign familial neonatal convulsions: expansion of the functional and mutation spectrum." The BFNC physician consortium Singh N.A., Westenskow P., Charlier C., Pappas C., Leslie J., Dillon J., Anderson V.E., Sanguinetti M.C., Leppert M.F. Brain 126:2726-2737(2003) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS BFNS1 VAL-208; GLN-228; PHE-243; CYS-284; THR-306 AND GLN-333, CHARACTERIZATION OF VARIANTS BFNS1 VAL-208 AND GLN-333. Corresponds to variant rs28939683 [ dbSNP \| Ensembl ].	VAR_010930
Natural variantⁱ	306 – 306	1	A → T in BFNS1; 20%-40% reduction of wt current in heteromeric channels. 3 Publications Manual assertion based on experiment inⁱ Ref.2 "A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns." Singh N.A., Charlier C., Stauffer D., DuPont B.R., Leach R.J., Melis R., Ronen G.M., Bjerre I., Quattlebaum T., Murphy J.V., McHarg M.L., Gagnon D., Rosales T.O., Peiffer A., Anderson V.E., Leppert M. Nat. Genet. 18:25-29(1998) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANTS BFNS1 CYS-284 AND THR-306. Ref.10 "Moderate loss of function of cyclic-AMP-modulated KCNQ2/KCNQ3 K+ channels causes epilepsy." Schroeder B.C., Kubisch C., Stein V., Jentsch T.J. Nature 396:687-690(1998) [PubMed] [Europe PMC] [Abstract] Cited for: MUTAGENESIS OF SER-52 AND GLY-279, PHOSPHORYLATION AT SER-52, CHARACTERIZATION OF VARIANTS CYS-284 AND THR-306. Ref.25 "KCNQ2 and KCNQ3 potassium channel genes in benign familial neonatal convulsions: expansion of the functional and mutation spectrum." The BFNC physician consortium Singh N.A., Westenskow P., Charlier C., Pappas C., Leslie J., Dillon J., Anderson V.E., Sanguinetti M.C., Leppert M.F. Brain 126:2726-2737(2003) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS BFNS1 VAL-208; GLN-228; PHE-243; CYS-284; THR-306 AND GLN-333, CHARACTERIZATION OF VARIANTS BFNS1 VAL-208 AND GLN-333. Corresponds to variant rs74315390 [ dbSNP \| Ensembl ].	VAR_010931
Natural variantⁱ	333 – 333	1	R → Q in BFNS1; moderate effect; less than 50% reduction in current compared with wt heteromeric channels. 1 Publication Manual assertion based on experiment inⁱ Ref.25 "KCNQ2 and KCNQ3 potassium channel genes in benign familial neonatal convulsions: expansion of the functional and mutation spectrum." The BFNC physician consortium Singh N.A., Westenskow P., Charlier C., Pappas C., Leslie J., Dillon J., Anderson V.E., Sanguinetti M.C., Leppert M.F. Brain 126:2726-2737(2003) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS BFNS1 VAL-208; GLN-228; PHE-243; CYS-284; THR-306 AND GLN-333, CHARACTERIZATION OF VARIANTS BFNS1 VAL-208 AND GLN-333. Corresponds to variant rs118192216 [ dbSNP \| Ensembl ].	VAR_026992
Natural variantⁱ	554 – 554	1	K → N in BFNS1 and EIEE7; decreases the voltage-dependence of the channel. 1 Publication Manual assertion based on experiment inⁱ Ref.27 "A novel mutation in KCNQ2 associated with BFNC, drug resistant epilepsy, and mental retardation." Borgatti R., Zucca C., Cavallini A., Ferrario M., Panzeri C., Castaldo P., Soldovieri M.V., Baschirotto C., Bresolin N., Dalla Bernardina B., Taglialatela M., Bassi M.T. Neurology 63:57-65(2004) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT BFNS1 ASN-554, VARIANT EIEE7 ASN-554, CHARACTERIZATION OF VARIANT BFNS1 ASN-554. Corresponds to variant rs267607198 [ dbSNP \| Ensembl ].	VAR_026993
Natural variantⁱ	780 – 780	1	N → T.1 Publication Manual assertion based on experiment inⁱ Ref.22 "Structural and mutational analysis of KCNQ2, the major gene locus for benign familial neonatal convulsions." Biervert C., Steinlein O.K. Hum. Genet. 104:234-240(1999) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT THR-780. Corresponds to variant rs1801475 [ dbSNP \| Ensembl ].	VAR_010932

Alternative sequence

Feature key	Position(s)	Length	Description	Feature identifier	Actions
Alternative sequenceⁱ	310 – 320	11	Missing in isoform 5. 1 Publication Manual assertion based on opinion inⁱ Ref.5 "The KCNQ2 potassium channel: splice variants, functional and developmental expression. Brain localization and comparison with KCNQ3." Tinel N., Lauritzen I., Chouabe C., Lazdunski M., Borsotto M. FEBS Lett. 438:171-176(1998) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2 AND 5).	VSP_000984	Add BLAST
Alternative sequenceⁱ	373 – 393	21	SSQTQ…NQLEL → RYRRRAPATKQLFHFLFSIC S in isoform 6. 2 Publications Manual assertion based on opinion inⁱ Ref.1 "Identification and cloning of neuroblastoma-specific and nerve tissue-specific genes through compiled expression profiles." Yokoyama M., Nishi Y., Yoshii J., Okubo K., Matsubara K. DNA Res. 3:311-320(1996) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 6). Ref.9 "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 6).	VSP_000986	Add BLAST
Alternative sequenceⁱ	373 – 382	10	Missing in isoform 3. 1 Publication Manual assertion based on opinion inⁱ Ref.3 "A potassium channel mutation in neonatal human epilepsy." Biervert C., Schroeder B.C., Kubisch C., Berkovic S.F., Propping P., Jentsch T.J., Steinlein O.K. Science 279:403-406(1998) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 2 AND 3).	VSP_000985
Alternative sequenceⁱ	394 – 872	479	Missing in isoform 6. 2 Publications Manual assertion based on opinion inⁱ Ref.1 "Identification and cloning of neuroblastoma-specific and nerve tissue-specific genes through compiled expression profiles." Yokoyama M., Nishi Y., Yoshii J., Okubo K., Matsubara K. DNA Res. 3:311-320(1996) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 6). Ref.9 "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 6).	VSP_000987	Add BLAST
Alternative sequenceⁱ	417 – 446	30	Missing in isoform 4. 1 Publication Manual assertion based on opinion inⁱ Ref.4 "KCNQ2 and KCNQ3 potassium channel subunits: molecular correlates of the M-channel." Wang H.-S., Pan Z., Shi W., Brown B.S., Wymore R.S., Cohen I.S., Dixon J.E., McKinnon D. Science 282:1890-1893(1998) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 4).	VSP_000989	Add BLAST
Alternative sequenceⁱ	417 – 434	18	Missing in isoform 2, isoform 3 and isoform 5. 3 Publications Manual assertion based on opinion inⁱ Ref.3 "A potassium channel mutation in neonatal human epilepsy." Biervert C., Schroeder B.C., Kubisch C., Berkovic S.F., Propping P., Jentsch T.J., Steinlein O.K. Science 279:403-406(1998) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 2 AND 3). Ref.5 "The KCNQ2 potassium channel: splice variants, functional and developmental expression. Brain localization and comparison with KCNQ3." Tinel N., Lauritzen I., Chouabe C., Lazdunski M., Borsotto M. FEBS Lett. 438:171-176(1998) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2 AND 5). Ref.7 "Differential expression of KCNQ2 splice variants: implications to M current function during neuronal development." Smith J.S., Iannotti C.A., Dargis P.G., Christian E.P., Aiyar J. J. Neurosci. 21:1096-1103(2001) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).	VSP_000988	Add BLAST
Alternative sequenceⁱ	509 – 509	1	Missing in isoform 4. 1 Publication Manual assertion based on opinion inⁱ Ref.4 "KCNQ2 and KCNQ3 potassium channel subunits: molecular correlates of the M-channel." Wang H.-S., Pan Z., Shi W., Brown B.S., Wymore R.S., Cohen I.S., Dixon J.E., McKinnon D. Science 282:1890-1893(1998) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 4).	VSP_000990

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, Polymorphism

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. 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.

3D structure databases

ProteinModelPortalⁱ	O43526.
SMRⁱ	O43526. Positions 65-316.
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Protein-protein interaction databases

BioGridⁱ	109986. 6 interactions.
IntActⁱ	O43526. 1 interaction.
MINTⁱ	MINT-8402812.
STRINGⁱ	9606.ENSP00000352035.

Chemistry

BindingDBⁱ	O43526.
ChEMBLⁱ	CHEMBL2221348.
DrugBankⁱ	DB00321. Amitriptyline. DB00586. Diclofenac. DB04953. Ezogabine. DB00939. Meclofenamic acid.
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.
PhosphoSiteⁱ	O43526.

Polymorphism and mutation databases

BioMutaⁱ	KCNQ2.

BioMutaⁱ

KCNQ2.

Proteomic databases

PaxDbⁱ	O43526.
PeptideAtlasⁱ	O43526.
PRIDEⁱ	O43526.

Protocols and materials databases

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.
UCSCⁱ	uc002yey.2. human. [O43526-1]

Organism-specific databases

CTDⁱ	3785.
GeneCardsⁱ	KCNQ2.
GeneReviewsⁱ	KCNQ2.
HGNCⁱ	HGNC:6296. KCNQ2.
HPAⁱ	HPA016642. HPA057112.
MalaCardsⁱ	KCNQ2.
MIMⁱ	121200. phenotype. 602235. gene. 613720. phenotype.
neXtProtⁱ	NX_O43526.
Orphanetⁱ	306. Benign familial infantile epilepsy. 1949. Benign familial neonatal seizures. 140927. Benign familial neonatal-infantile seizures. 1934. Early infantile epileptic encephalopathy.
PharmGKBⁱ	PA30074.
GenAtlasⁱ	Search...

Phylogenomic databases

eggNOGⁱ	KOG1419. Eukaryota. COG1226. LUCA.
GeneTreeⁱ	ENSGT00550000074513.
HOVERGENⁱ	HBG059014.
InParanoidⁱ	O43526.
KOⁱ	K04927.
OMAⁱ	PRQGHGT.
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.

Reactomeⁱ

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

Miscellaneous databases

ChiTaRSⁱ	KCNQ2. human.
GeneWikiⁱ	KvLQT2.
GenomeRNAiⁱ	3785.
PROⁱ	O43526.
SOURCEⁱ	Search...

Gene expression databases

Bgeeⁱ	ENSG00000075043.
CleanExⁱ	HS_KCNQ2.
ExpressionAtlasⁱ	O43526. baseline and differential.
Genevisibleⁱ	O43526. HS.

Family and domain databases

InterProⁱ	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. [Graphical view]
PANTHERⁱ	PTHR11537. PTHR11537. 4 hits.
Pfamⁱ	PF00520. Ion_trans. 1 hit. PF03520. KCNQ_channel. 1 hit. PF11956. KCNQC3-Ank-G_bd. 1 hit. [Graphical view]
PRINTSⁱ	PR00169. KCHANNEL. PR01461. KCNQ2CHANNEL. PR01459. KCNQCHANNEL.
ProtoNetⁱ	Search...

Entry informationⁱ

Entry nameⁱ

KCNQ2_HUMAN

Accessionⁱ

Primary (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:	September 7, 2016
This is version 177 of the entry and version 2 of the sequence. [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

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.

Mutagenesis experiments were carried out in Xenopus oocytes by coexpression of either KCNQ2(mut) and KCNQ3 at the ratio of 1:1, or of KCNQ2(mut), KCNQ2(wt) and KCNQ3 at the ratio of 1:1:2, to mimic the situation in a heterozygous patient with BFNC1 disease.

Keywords - Technical termⁱ

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
SIMILARITY comments
Index of protein domains and families

Similar proteinsⁱ

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:

100%	UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%	UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%	UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.

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UniProtKB - O43526 (KCNQ2_HUMAN)

UniProt

O43526 - KCNQ2_HUMAN

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Potassium voltage-gated channel subfamily KQT member 2

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<p>Provides any useful information about the protein, mostly biological knowledge.</p><p><a href='../manual/function_section' target='_top'>More...</a></p>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><p><a href='../manual/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><p><a href='../manual/gene_ontology' target='_top'>More...</a></p>GO - Biological processi

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Protein family/group databases

<p>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><p><a href='../manual/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

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

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<p>Displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including length and molecular weight.</p><p><a href='../manual/sequences_section' target='_top'>More...</a></p>Sequences (6)i

Experimental Info

Natural variant

Alternative sequence

Sequence databases

Genome annotation databases

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

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Chemistry

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Expressionⁱ

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GO - Molecular functionⁱ

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Sequences (6)ⁱ

Cross-referencesⁱ

Entry informationⁱ

Miscellaneousⁱ