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KCNQ2

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]
Protein class

Disease related genes, Human disease related genes, Plasma proteins, Potential drug targets, Transporters, Voltage-gated ion channels

Predicted location

Intracellular, Membrane (different isoforms)

Single cell type specificity

Cell type enhanced (Excitatory neurons, Oligodendrocyte precursor cells, Inhibitory neurons, Spermatogonia, Early spermatids, Horizontal cells)

Immune cell specificity

Not detected in immune cells

Cell line specificity

Cell line enhanced (AF22, AN3-CA, NTERA-2, SCLC-21H, SH-SY5Y)

Interaction

Heterotetramer with KCNQ3; form the heterotetrameric M potassium channel (PubMed:9836639, PubMed:27564677). Interacts with calmodulin; the interaction is calcium-independent, constitutive and participates in the proper assembly of a functional heterotetrameric M channel (PubMed:27564677). May associate with KCNE2 (PubMed:11034315). Interacts with IQCJ-SCHIP1 (By similarity).

Molecular function

Ion channel, Potassium channel, Voltage-gated channel

More Types Infomation

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For Research Use Only. Not For Clinical Use.

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