Protein : KCNQ2


Connectivity	20
Notes	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.
Hugo ID	6296
Name	KCNQ2
Description	potassium voltage-gated channel, KQT-like subfamily, member 2
URN	urn:agi-llid:3785


GO Cellular Component	integral to membrane
	membrane
	voltage-gated potassium channel complex
	integral to plasma membrane
	membrane fraction


Cell Localization	Plasma membrane


State	potassium voltage-gated channel KQT-like protein 2 isoform c
	potassium voltage-gated channel KQT-like protein 2 isoform b
	potassium voltage-gated channel KQT-like protein 2 isoform a
	potassium voltage-gated channel KQT-like protein 2 isoform d
	potassium voltage-gated channel KQT-like protein 2 isoform e


State Description	Transcript Variant: This variant (3) contains a distinct 3' UTR and lacks two alternate in-frame exons compared to variant 1, resulting in a shorter isoform (c) compared to isoform a.
	Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1, resulting in a shorter isoform (b) compared to isoform a.
	Transcript Variant: This variant (1) encodes the longest isoform (a).
	Transcript Variant: This variant (4) lacks two alternate in-frame coding segments compared to variant 1, resulting in a shorter isoform (d) compared to isoform a. The 3' UTR of this variant has not been fully characterized.
	Transcript Variant: This variant (5) uses an alternate splice site in the coding region compared to variant 1, resulting in a frameshift. It encodes isoform e, which has a shorter and distinct C-terminus compared to isoform a.


MGI ID	1309503


GO Molecular Function	voltage-gated ion channel activity
	ion channel activity
	cation channel activity
	voltage-gated potassium channel activity
	potassium channel activity


Swiss-Prot Accession	O43526


Alias	Kcnq2
	potassium voltage-gated channel, KQT-like subfamily, member 2
	potassium voltage-gated channel KQT-like protein 2
	KQT2
	HNSPC
	potassium voltage-gated channel, subfamily Q, member 2
	ENB1
	KV7.2
	KCNA11
	KVEBN1
	neuroblastoma-specific potassium channel protein
	ENB I
	KVEBN I
	Neuroblastoma- specific potassium channel protein
	potassium voltage-gated channel KQT-like protein 2 isoform a
	potassium voltage-gated channel KQT-like protein 2 isoform b
	potassium voltage-gated channel KQT-like protein 2 isoform c
	potassium voltage-gated channel KQT-like protein 2 isoform d
	potassium voltage-gated channel KQT-like protein 2 isoform e
	potassium voltage-gated channel, KQT-like subfamily, member II
	potassium voltage-gated channel, subfamily Q, member II
	Voltage-gated potassium channel protein KQT-like 2
	Voltage-gated potassium channel protein KQT-like II
	EBN


Source	ResNet


RGD ID	621504