Features Interactions Isoform Disease Linear motifs Fingerprint Network All partners

KCNQ2_HUMAN

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, PubMed, PubMed, PubMed, PubMed). 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). [View more on UniProt]

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Position Amino acid Mutation Disease Overlap with binding region
214 Arg Trp Seizures,benignfamilialneonatal1(BFNS1) -
284 Tyr Cys Seizures,benignfamilialneonatal1(BFNS1) -
306 Ala Thr Developmentalandepilepticencephalopathy7(DEE7) -
306 Ala Thr Seizures,benignfamilialneonatal1(BFNS1) -
207 Arg Trp Seizures,benignfamilialneonatal1(BFNS1) -
208 Met Val Seizures,benignfamilialneonatal1(BFNS1) -
228 His Gln Seizures,benignfamilialneonatal1(BFNS1) -
243 Leu Phe Seizures,benignfamilialneonatal1(BFNS1) -
247 Ser Trp Developmentalandepilepticencephalopathy7(DEE7) -
333 Arg Gln Seizures,benignfamilialneonatal1(BFNS1) -
554 Lys Asn Developmentalandepilepticencephalopathy7(DEE7) -
554 Lys Asn Seizures,benignfamilialneonatal1(BFNS1) -
266 Asp Glu Developmentalandepilepticencephalopathy7(DEE7) -
268 Leu Phe Developmentalandepilepticencephalopathy7(DEE7) -
291 Arg Ser Developmentalandepilepticencephalopathy7(DEE7) -
294 Ala Val Developmentalandepilepticencephalopathy7(DEE7) -
301 Gly Ser Developmentalandepilepticencephalopathy7(DEE7) -
581 Arg Gln Developmentalandepilepticencephalopathy7(DEE7) -
114 Thr Ala Seizures,benignfamilialneonatal1(BFNS1) -
154 Tyr Asp Seizures,benignfamilialneonatal1(BFNS1) -
159 Gly Glu Seizures,benignfamilialneonatal1(BFNS1) -
159 Gly Arg Seizures,benignfamilialneonatal1(BFNS1) -
196 Ala Val Seizures,benignfamilialneonatal1(BFNS1) -
201 Arg Cys Developmentalandepilepticencephalopathy7(DEE7) -
210 Arg Cys Developmentalandepilepticencephalopathy7(DEE7) -
213 Arg Gln Developmentalandepilepticencephalopathy7(DEE7) -
213 Arg Gln Seizures,benignfamilialneonatal1(BFNS1) -
217 Thr Ala Seizures,benignfamilialneonatal1(BFNS1) -
234 Thr Pro Developmentalandepilepticencephalopathy7(DEE7) -
276 Thr Ile Developmentalandepilepticencephalopathy7(DEE7) -
353 Arg Gly Seizures,benignfamilialneonatal1(BFNS1) -
358 Ser Phe Seizures,benignfamilialneonatal1(BFNS1) -
547 Arg Trp Seizures,benignfamilialneonatal1(BFNS1) -
561 Pro Ser Developmentalandepilepticencephalopathy7(DEE7) -
578 Met Val Seizures,benignfamilialneonatal1(BFNS1) -
588 Arg Ser Seizures,benignfamilialneonatal1(BFNS1) -
637 Leu Arg Seizures,benignfamilialneonatal1(BFNS1) -

No annotated instance was found. To search for linear motifs, use the ELM prediction server.

Molecular function

Term Name % Distance from the top of the tree Annotated in KCNQ2_HUMAN
GO:0008324 cation transmembrane transporter activity 43.7500 4 yes
GO:0022890 inorganic cation transmembrane transporter activity 43.7500 4 yes
GO:0005216 ion channel activity 40.6250 4 yes
GO:0005261 cation channel activity 40.6250 5 yes
GO:0015267 channel activity 40.6250 4 yes
GO:0022836 gated channel activity 40.6250 5 yes
GO:0046873 metal ion transmembrane transporter activity 40.6250 5 yes
GO:0005244 voltage-gated ion channel activity 34.3750 4 yes
GO:0022832 voltage-gated channel activity 34.3750 6 yes
GO:0005249 voltage-gated potassium channel activity 28.1250 6 yes
GO:0005267 potassium channel activity 28.1250 6 yes
GO:0015079 potassium ion transmembrane transporter activity 28.1250 6 yes
GO:0022843 voltage-gated cation channel activity 28.1250 5 yes
GO:0003779 actin binding 21.8750 4 no
GO:0046872 metal ion binding 21.8750 4 no
GO:0005251 delayed rectifier potassium channel activity 15.6250 7 yes
GO:0030506 ankyrin binding 12.5000 4 yes

Biological process

Term Name % Distance from top the of the tree Annotated in KCNQ2_HUMAN
GO:0051049 regulation of transport 75.0000 4 yes
GO:0043269 regulation of ion transport 68.7500 5 yes
GO:0034762 regulation of transmembrane transport 59.3750 4 yes
GO:0034765 regulation of ion transmembrane transport 59.3750 5 yes
GO:0006811 ion transport 46.8750 4 yes
GO:0048522 positive regulation of cellular process 46.8750 4 no
GO:0006812 cation transport 43.7500 5 yes
GO:0030001 metal ion transport 43.7500 6 yes
GO:0008104 protein localization 43.7500 4 no
GO:0098655 cation transmembrane transport 37.5000 4 yes
GO:0098660 inorganic ion transmembrane transport 37.5000 4 yes
GO:0098662 inorganic cation transmembrane transport 37.5000 5 yes
GO:0010959 regulation of metal ion transport 37.5000 6 no
GO:0048523 negative regulation of cellular process 37.5000 4 no
GO:0060255 regulation of macromolecule metabolic process 34.3750 4 no
GO:0001508 action potential 34.3750 4 no
GO:0022607 cellular component assembly 34.3750 4 no
GO:0051050 positive regulation of transport 34.3750 4 no
GO:1904062 regulation of cation transmembrane transport 34.3750 6 no
GO:0009893 positive regulation of metabolic process 31.2500 4 no
GO:0010604 positive regulation of macromolecule metabolic process 31.2500 5 no
GO:0043270 positive regulation of ion transport 31.2500 5 no
GO:0006813 potassium ion transport 28.1250 7 yes
GO:0071805 potassium ion transmembrane transport 28.1250 6 yes
GO:0022898 regulation of transmembrane transporter activity 28.1250 4 no
GO:0032412 regulation of ion transmembrane transporter activity 28.1250 5 no
GO:0034330 cell junction organization 28.1250 4 no
GO:0044057 regulation of system process 28.1250 4 no
GO:0051128 regulation of cellular component organization 28.1250 4 no
GO:0010646 regulation of cell communication 25.0000 4 no
GO:0034764 positive regulation of transmembrane transport 25.0000 5 no
GO:0034767 positive regulation of ion transmembrane transport 25.0000 6 no
GO:1904064 positive regulation of cation transmembrane transport 25.0000 7 no
GO:0010038 response to metal ion 25.0000 4 no
GO:0030030 cell projection organization 25.0000 4 no
GO:0051051 negative regulation of transport 25.0000 4 no
GO:0016192 vesicle-mediated transport 21.8750 4 no
GO:0051171 regulation of nitrogen compound metabolic process 21.8750 4 no
GO:0080090 regulation of primary metabolic process 21.8750 4 no
GO:0006937 regulation of muscle contraction 21.8750 6 no
GO:0008016 regulation of heart contraction 21.8750 6 no
GO:0032411 positive regulation of transporter activity 21.8750 4 no
GO:0032414 positive regulation of ion transmembrane transporter activity 21.8750 5 no
GO:0043266 regulation of potassium ion transport 21.8750 7 no
GO:0061024 membrane organization 21.8750 4 no
GO:0072657 protein localization to membrane 21.8750 4 no
GO:0090257 regulation of muscle system process 21.8750 5 no
GO:1901379 regulation of potassium ion transmembrane transport 21.8750 7 no
GO:1903522 regulation of blood circulation 21.8750 5 no
GO:2001257 regulation of cation channel activity 21.8750 6 no
GO:2001259 positive regulation of cation channel activity 21.8750 6 no
GO:0032410 negative regulation of transporter activity 21.8750 4 no
GO:0032413 negative regulation of ion transmembrane transporter activity 21.8750 5 no
GO:0034763 negative regulation of transmembrane transport 21.8750 5 no
GO:0034766 negative regulation of ion transmembrane transport 21.8750 6 no
GO:0043271 negative regulation of ion transport 21.8750 5 no
GO:1904063 negative regulation of cation transmembrane transport 21.8750 7 no
GO:0006996 organelle organization 21.8750 4 no
GO:0007268 chemical synaptic transmission 12.5000 6 yes
GO:0007399 nervous system development 12.5000 4 yes
GO:0098916 anterograde trans-synaptic signaling 12.5000 5 yes
GO:0099537 trans-synaptic signaling 12.5000 4 yes

Disease

Term Name % Distance from top the of the tree Annotated in KCNQ2_HUMAN
DOID:331 central nervous system disease 21.8750 3 yes
DOID:114 heart disease 18.7500 3 no
DOID:0050701 electroclinical syndrome 15.6250 6 yes
DOID:0112202 developmental and epileptic encephalopathy 15.6250 7 yes
DOID:1826 epilepsy 15.6250 5 yes
DOID:936 brain disease 15.6250 4 yes
DOID:0050700 cardiomyopathy 12.5000 4 no
DOID:0060036 intrinsic cardiomyopathy 12.5000 5 no
DOID:2843 long QT syndrome 9.3750 6 no
DOID:10273 heart conduction disease 9.3750 4 no
DOID:0050702 neonatal period electroclinical syndrome 6.2500 7 yes
DOID:0080462 developmental and epileptic encephalopathy 7 6.2500 8 yes
DOID:14264 benign neonatal seizures 6.2500 8 yes
DOID:0050155 sensory system disease 6.2500 3 no
DOID:0050563 nonsyndromic deafness 6.2500 5 no
DOID:0050564 autosomal dominant nonsyndromic deafness 6.2500 6 no
DOID:2742 auditory system disease 6.2500 4 no
DOID:0050951 hereditary ataxia 6.2500 5 no
DOID:1289 neurodegenerative disease 6.2500 4 no
DOID:0050703 infancy electroclinical syndrome 6.2500 7 no
DOID:0060169 benign familial infantile epilepsy 6.2500 8 no
Uniprot ID Details Highest evidence Localizing into PSD HPA (protein expression in neurons)
CALM2_HUMAN [view entry] [view interactions] Low throughput yes yes
CALM3_HUMAN [view entry] [view interactions] Low throughput yes yes
CALM1_HUMAN [view entry] [view interactions] Low throughput yes yes
ANXA6_HUMAN [view entry] [view interactions] Low throughput yes yes
KCNQ3_HUMAN [view interactions] Low throughput no no
KCNQ1_HUMAN [view interactions] Low throughput no yes
NEDD4_HUMAN [view entry] [view interactions] Low throughput yes yes
UBC_HUMAN [view entry] [view interactions] Low throughput yes yes
KCNQ2_HUMAN [view entry] [view interactions] Low throughput yes yes
GRN_HUMAN [view interactions] High throughput no no
ACTG_HUMAN [view entry] [view interactions] High throughput yes yes
ARI2_HUMAN [view interactions] High throughput no no
GOLM1_HUMAN [view interactions] High throughput no yes
TRI25_HUMAN [view interactions] High throughput no yes
SC6A4_HUMAN [view entry] [view interactions] High throughput yes no
OTUD4_HUMAN [view interactions] High throughput no yes
AMGO1_HUMAN [view interactions] High throughput no yes
AT2A3_HUMAN [view interactions] High throughput no yes
CNTP1_HUMAN [view entry] [view interactions] High throughput yes yes
CNTP2_HUMAN [view entry] [view interactions] High throughput yes yes
KCNA1_HUMAN [view entry] [view interactions] High throughput yes yes
KCNB1_HUMAN [view entry] [view interactions] High throughput yes yes
KCND3_HUMAN [view entry] [view interactions] High throughput yes yes
KCIP2_HUMAN [view interactions] High throughput no no
KCNS1_HUMAN [view interactions] High throughput no no
KCNS2_HUMAN [view interactions] High throughput no no
KCNV1_HUMAN [view interactions] High throughput no no
PDIA1_HUMAN [view interactions] High throughput no yes
MYH14_HUMAN [view entry] [view interactions] High throughput yes no
ACTN2_HUMAN [view entry] [view interactions] High throughput yes yes
SPTN2_HUMAN [view entry] [view interactions] High throughput yes yes
MYO6_HUMAN [view entry] [view interactions] High throughput yes no
HECW2_HUMAN [view entry] [view interactions] High throughput yes no
KCJ18_HUMAN [view interactions] Computational no no
NFASC_HUMAN [view entry] [view interactions] Computational yes yes
KCNJ4_HUMAN [view entry] [view interactions] Computational yes no
KCNQ4_HUMAN [view interactions] Computational no yes
KCAB2_HUMAN [view entry] [view interactions] Computational yes yes
KCNJ2_HUMAN [view entry] [view interactions] Computational yes yes
ANK3_HUMAN [view entry] [view interactions] Computational yes yes
KCAB1_HUMAN [view interactions] Computational no no
SCN8A_HUMAN [view entry] [view interactions] Computational yes no
KCJ14_HUMAN [view interactions] Computational no no
SCN1A_HUMAN [view interactions] Computational no no
SCN1B_HUMAN [view interactions] Computational no no
KCNH2_HUMAN [view interactions] Computational no no
NRCAM_HUMAN [view entry] [view interactions] Computational yes no
KCNH5_HUMAN [view interactions] Computational no no
ANK2_HUMAN [view entry] [view interactions] Computational yes yes
KCNQ5_HUMAN [view interactions] Computational no yes
KCJ12_HUMAN [view interactions] Computational no no
SCN2A_HUMAN [view entry] [view interactions] Computational yes yes
KCNH1_HUMAN [view entry] [view interactions] Computational yes yes
ACHA4_HUMAN [view entry] [view interactions] Computational yes no
KCNE1_HUMAN [view interactions] Computational no no
SPTN4_HUMAN [view entry] [view interactions] Computational yes no