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 |
|---|---|---|---|---|---|
| potassium voltage-gated channel subfamily Q member 2 | MIM:602235 | Ensembl:ENSG00000075043 | HGNC:HGNC:6296 | PA30074 | 20q13.33 |
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 |
| MF | IPI | GO:0030506 | ankyrin binding |
| BP | TAS | GO:0007268 | chemical synaptic transmission |
| BP | TAS | GO:0007399 | nervous system development |
| BP | IEA | GO:0034765 | regulation of ion transmembrane transport |
| BP | IBA | GO:0071805 | potassium ion transmembrane transport |
| BP | IDA | GO:0071805 | potassium ion transmembrane transport |
| CC | ISS | GO:0005886 | plasma membrane |
| CC | TAS | GO:0005886 | plasma membrane |
| CC | IDA | GO:0005887 | integral component of plasma membrane |
| CC | IBA | GO:0008076 | voltage-gated potassium channel complex |
| CC | IDA | GO:0008076 | voltage-gated potassium channel complex |
| CC | IBA | GO:0016021 | integral component of membrane |
| CC | ISS | GO:0033268 | node of Ranvier |
| CC | IBA | GO:0043194 | axon initial segment |
| CC | ISS | GO:0043194 | axon initial segment |
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 |
| reactome | R-HSA-445095 | Interaction between L1 and Ankyrins |
| biocarta | raccpathway | ion channels and their functional role in vascular endothelium |
| pharmgkb | PA152241951 | Celecoxib Pathway, Pharmacodynamics |
| kegg | hsa04725 | Cholinergic synapse - Homo sapiens (human) |
| wikipathways | WP4148 | Splicing factor NOVA regulated synaptic proteins |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in KCNQ2
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