Homo sapiens Protein: KCNQ2 | |||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Summary | |||||||||||||||||||||||
InnateDB Protein | IDBP-86068.5 | ||||||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||||||
Gene Symbol | KCNQ2 | ||||||||||||||||||||||
Protein Name | potassium voltage-gated channel, KQT-like subfamily, member 2 | ||||||||||||||||||||||
Synonyms | BFNC; BFNS1; EBN; EBN1; EIEE7; ENB1; HNSPC; KCNA11; KV7.2; KVEBN1; | ||||||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||||||
Ensembl Protein | ENSP00000352035 | ||||||||||||||||||||||
InnateDB Gene | IDBG-86058 (KCNQ2) | ||||||||||||||||||||||
Protein Structure | |||||||||||||||||||||||
UniProt Annotation | |||||||||||||||||||||||
Function | 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. | ||||||||||||||||||||||
Subcellular Localization | Membrane; Multi-pass membrane protein. | ||||||||||||||||||||||
Disease Associations | Seizures, benign familial neonatal 1 (BFNS1) [MIM:121200]: A 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. {ECO:0000269PubMed:11175290, ECO:0000269PubMed:11572947, ECO:0000269PubMed:14534157, ECO:0000269PubMed:15249611, ECO:0000269PubMed:9425895}. Note=The disease is caused by mutations affecting the gene represented in this entry.Epileptic encephalopathy, early infantile, 7 (EIEE7) [MIM:613720]: An autosomal dominant seizure disorder characterized by infantile onset of refractory seizures with resultant delayed neurologic development and persistent neurologic abnormalities. {ECO:0000269PubMed:12742592, ECO:0000269PubMed:15249611}. Note=The disease is caused by mutations affecting the gene represented in this entry. | ||||||||||||||||||||||
Tissue Specificity | 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. {ECO:0000269PubMed:10781098}. | ||||||||||||||||||||||
Comments | |||||||||||||||||||||||
Interactions | |||||||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 5 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
|
||||||||||||||||||||||
Gene Ontology | |||||||||||||||||||||||
Molecular Function |
|
||||||||||||||||||||||
Biological Process |
|
||||||||||||||||||||||
Cellular Component |
|
||||||||||||||||||||||
Protein Structure and Domains | |||||||||||||||||||||||
PDB ID | |||||||||||||||||||||||
InterPro |
IPR003091
Potassium channel IPR003937 Potassium channel, voltage dependent, KCNQ IPR003947 Potassium channel, voltage dependent, KCNQ2 IPR005821 Ion transport domain IPR013099 Two pore domain potassium channel domain IPR013821 Potassium channel, voltage dependent, KCNQ, C-terminal IPR020969 Ankyrin-G binding site |
||||||||||||||||||||||
PFAM |
PF00520
PF07885 PF03520 PF11956 |
||||||||||||||||||||||
PRINTS |
PR00169
PR01459 PR01461 |
||||||||||||||||||||||
PIRSF | |||||||||||||||||||||||
SMART | |||||||||||||||||||||||
TIGRFAMs | |||||||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||||||
Modification | |||||||||||||||||||||||
Cross-References | |||||||||||||||||||||||
SwissProt | O43526 | ||||||||||||||||||||||
PhosphoSite | PhosphoSite-O43526 | ||||||||||||||||||||||
TrEMBL | |||||||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||||||
Entrez Gene | 3785 | ||||||||||||||||||||||
UniGene | Hs.740010 | ||||||||||||||||||||||
RefSeq | NP_742105 | ||||||||||||||||||||||
HUGO | HGNC:6296 | ||||||||||||||||||||||
OMIM | 602235 | ||||||||||||||||||||||
CCDS | CCDS13520 | ||||||||||||||||||||||
HPRD | 03757 | ||||||||||||||||||||||
IMGT | |||||||||||||||||||||||
EMBL | AF033348 AF074247 AF110020 AL121827 AL121829 AL353658 BC000699 D82346 Y15065 | ||||||||||||||||||||||
GenPept | AAB97315 AAC25921 AAD16988 AAH00699 BAA11557 CAA75348 CAH72958 CAH72959 CAI95054 CAI95740 CAI95744 | ||||||||||||||||||||||