KCNQ2
Summary: The M channel is a slowly activating and deactivating potassium channel that plays a critical role in the regulation of neuronal excitability. The M channel is formed by the association of the protein encoded by this gene and a related protein encoded by the KCNQ3 gene, both integral membrane proteins. M channel currents are inhibited by M1 muscarinic acetylcholine receptors and activated by retigabine, a novel anti-convulsant drug. Defects in this gene are a cause of benign familial neonatal convulsions type 1 (BFNC), also known as epilepsy, benign neonatal type 1 (EBN1). At least five transcript variants encoding five different isoforms have been found for this gene. [provided by RefSeq, Jul 2008].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
OMIM IDMIM:602235 Ensembl IDEnsembl:ENSG00000075043 HGNC IDHGNC:HGNC:6296 PHARMGKB IDPA30074 Map Location20q13.33 | |||||
GO terms in KCNQ2
Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | IBA | GO:0005249 | voltage-gated potassium channel activity |
| MF | IDA | GO:0005249 | voltage-gated potassium channel activity |
| MF | IBA | GO:0005251 | delayed rectifier potassium channel activity |
| MF | IPI | GO:0005515 | protein binding |
| MF | IBA | GO:0005516 | calmodulin binding |
| MF | IDA | GO:0005516 | calmodulin binding |
Gene expression in normal tissue: KCNQ2
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in KCNQ2
Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-112316 | Neuronal System |
| reactome | R-HSA-1266738 | Developmental Biology |
| reactome | R-HSA-1296071 | Potassium Channels |
| reactome | R-HSA-1296072 | Voltage gated Potassium channels |
| reactome | R-HSA-373760 | L1CAM interactions |
| reactome | R-HSA-422475 | Axon guidance |
Gene-Drug: Aster Plot
Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD353 | PD0325901 | 1 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in KCNQ2
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
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