KCNQ2

Official Full Name

potassium voltage-gated channel subfamily Q member 2

Organism

Homo sapiens

Gene ID

3785

Background

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]

Synonyms

EBN; BFNC; DEE7; EBN1; ENB1; HNSPC; KV7.2; KCNA11

Cat.No.	Product Name	Price
CSC-DC008000	Panoply™ Human KCNQ2 Knockdown Stable Cell Line	Inquiry
CSC-SC008000	Panoply™ Human KCNQ2 Over-expressing Stable Cell Line	Inquiry

Cat.No.	Product Name	Price
AD08457Z	Human KCNQ2 adenoviral particles	Inquiry
LV16044L	human KCNQ2 (NM_172106) lentivirus particles	Inquiry
LV16045L	human KCNQ2 (NM_172109) lentivirus particles	Inquiry
LV16046L	human KCNQ2 (NM_172107) lentivirus particles	Inquiry
LV16047L	human KCNQ2 (NM_172108) lentivirus particles	Inquiry
LV16048L	human KCNQ2 (NM_004518) lentivirus particles	Inquiry

Cat.No.	Product Name	Price
SHH323655	shRNA set against Human KCNQ2 (NM_004518.4)	Inquiry
SHH323659	shRNA set against Mouse KCNQ2 (NM_010611.2)	Inquiry
SHH323663	shRNA set against Rat KCNQ2 (NM_133322.1)	Inquiry
SHL192091	shRNA set against Mouse Kcnq2(NM_010611.2)	Inquiry
SHL192126	shRNA set against Human KCNQ2(NM_172107.2)	Inquiry
SHL192144	shRNA set against Mouse Kcnq2(NM_001006674.1)	Inquiry
SHL192162	shRNA set against Mouse Kcnq2(NM_001006677.1)	Inquiry
SHL192212	shRNA set against Mouse Kcnq2(NM_001003825.2)	Inquiry
SHL192230	shRNA set against Rat Kcnq2(NM_133322.1)	Inquiry
SHL192248	shRNA set against Mouse Kcnq2(NM_001006668.1)	Inquiry
SHL192266	shRNA set against Mouse Kcnq2(NM_001006680.1)	Inquiry
SHL192312	shRNA set against Mouse Kcnq2(NM_001006675.1)	Inquiry
SHL198982	shRNA set against Mouse Kcnq2(NM_001006678.1)	Inquiry

Cat.No.	Product Name	Price
CDFG016947	Mouse Kcnq2 cDNA Clone(NM_001006668.1)	Inquiry
CDFG016949	Mouse Kcnq2 cDNA Clone(NM_001006674.1)	Inquiry
CDFG016950	Mouse Kcnq2 cDNA Clone(NM_001006677.1)	Inquiry
CDFG016951	Mouse Kcnq2 cDNA Clone(NM_001006676.1)	Inquiry
CDFG016952	Mouse Kcnq2 cDNA Clone(NM_001006678.1)	Inquiry
CDFG016953	Mouse Kcnq2 cDNA Clone(NM_001006679.1)	Inquiry
CDFG016955	Mouse Kcnq2 cDNA Clone(NM_001006680.1)	Inquiry
CDFL006476	Mouse Kcnq2 cDNA Clone(NM_010611.2)	Inquiry
CDFR013995	Rat Kcnq2 cDNA Clone(NM_133322.1)	Inquiry
MiUTR1H-05164	KCNQ2 miRNA 3'UTR clone	Inquiry
MiUTR1H-05165	KCNQ2 miRNA 3'UTR clone	Inquiry
MiUTR1H-05166	KCNQ2 miRNA 3'UTR clone	Inquiry
MiUTR1M-06261	KCNQ2 miRNA 3'UTR clone	Inquiry
MiUTR1M-06262	KCNQ2 miRNA 3'UTR clone	Inquiry
MiUTR1M-06263	KCNQ2 miRNA 3'UTR clone	Inquiry
MiUTR1M-06264	KCNQ2 miRNA 3'UTR clone	Inquiry
MiUTR1M-06265	KCNQ2 miRNA 3'UTR clone	Inquiry
MiUTR1M-06266	KCNQ2 miRNA 3'UTR clone	Inquiry
MiUTR1M-06267	KCNQ2 miRNA 3'UTR clone	Inquiry
MiUTR1M-06268	KCNQ2 miRNA 3'UTR clone	Inquiry
MiUTR1M-06269	KCNQ2 miRNA 3'UTR clone	Inquiry
MiUTR1R-02844	KCNQ2 miRNA 3'UTR clone	Inquiry
CDFG016948	Mouse Kcnq2 cDNA Clone(NM_001006675.1)	Inquiry
MiUTR3H-04802	KCNQ2 miRNA 3'UTR clone	Inquiry
MiUTR3H-04805	KCNQ2 miRNA 3'UTR clone	Inquiry
CDFG016781	Mouse Kcnq2 cDNA Clone(NM_001003825.2)	Inquiry
CDFG010419	Human KCNQ2 cDNA Clone(NM_172109.1)	Inquiry
CDFG010417	Human KCNQ2 cDNA Clone(NM_172107.2)	Inquiry
CDFG010416	Human KCNQ2 cDNA Clone(NM_172106.1)	Inquiry
CDCL123311	Mouse Kcnq2 ORF clone (NM_001006676.1)	Inquiry
CDFG016946	Mouse Kcnq2 cDNA Clone(NM_001006669.1)	Inquiry
CDCL123301	Human Kcnq2 ORF clone (NM_001003825.2)	Inquiry
CDCL123303	Human Kcnq2 ORF clone (NM_001006668.1)	Inquiry
CDCL123305	Human Kcnq2 ORF clone (NM_001006669.1)	Inquiry
CDCL123307	Mouse Kcnq2 ORF clone (NM_001006674.1)	Inquiry
CDCL123309	Mouse Kcnq2 ORF clone (NM_001006675.1)	Inquiry
CDCL123313	Human Kcnq2 ORF clone (NM_001006677.1)	Inquiry
CDCL123315	Human Kcnq2 ORF clone (NM_001006678.1)	Inquiry
CDCL218492	Mouse Kcnq2 ORF Clone(NM_001006680.1)	Inquiry
CDCL218472	Mouse Kcnq2 ORF Clone(NM_001003824.1)	Inquiry
CDCR249315	Mouse Kcnq2 ORF Clone(NM_010611.2)	Inquiry
CDCR288254	Human KCNQ2 ORF Clone(NM_004518.4)	Inquiry
CDCR321380	Human KCNQ2 ORF Clone(NM_172106.1)	Inquiry
CDCR321384	Human KCNQ2 ORF Clone(NM_172108.3)	Inquiry
CDCR321386	Human KCNQ2 ORF Clone(NM_172109.1)	Inquiry
CDCR380699	Rat Kcnq2 ORF Clone(NM_133322.1)	Inquiry
CDCS411825	Human KCNQ2 ORF Clone (BC000699)	Inquiry
CDCL123317	Human Kcnq2 ORF clone (NM_001006679.1)	Inquiry
CDCL123299	Mouse KCNQ2 ORF clone (NM_172107.2)	Inquiry

Cat.No.	Product Name	Price
CC-734	KCNQ2 Easy KO Kit	Inquiry

Detailed Information

Recent Research

KCNQ encodes for the voltage-dependent potassium (K⁺) channels. KCNQ channels play a critical role in maintaining neuronal excitability and have emerged as a potential target for the treatment and prevention of epilepsy and other related disorders, including neuropathic pain and tinnitus.

KCNQ channels are composed of five subunits (KCNQ1-5): KCNQ2-5 are confined to the nervous system including inner ear and brainstem whereas KCNQ1 is limited to the heart and peripheral epithelial and smooth muscle cells. KCNQ2 and KCNQ3 channels were activated at the subthreshold potential generation of action potential. Thus, they allow the excitation of single action potential but effectively inhibit the repeated excitation of action potential. Originally named ‘‘M- channels’’, their inhibition by muscarinic agonists profoundly increases action potential firing. In vivo, overexpression of KCNQ2 dominant negative subunit in transgenic mice significantly reduced M current, resulting in increased excitability and seizures. This dominant-negative subunit hybridizes with the KCNQ3 subunit to eliminate all functions of KCNQ2/3. Moreover, pathological reduction in KCNQ2/3 channel activity is involved in different classes of seizures, anxiety, migraine, attention deficient-hyperactivity disorder, neuropathic pain, schizophrenia, mania and bipolar disease.

In neuronal cells, KCNQ2 heterotetramerizes to give rise to the M current (I_M), two key players for the regulation of neuronal excitability. Recently, KCNQ2 mutations had only been reported in benign familial neonatal epilepsy (BFNE) and peripheral nerve hyperexcitability or myokymia. Patients with BFNE may experience severe local movement spasms in the first few days of life, normal or subnormal interictal EEG activity and usually normal cognitive development. The epilepsy usually stops before the end of the 3rd month. In BFNE, KCNQ2 mutations are transmitted from affected individual to affected individual following a classical autosomal dominant inheritance mode. More recently, mutations in the KCNQ2 gene were also described in a very severe epileptic phenotype called early infantile epileptic encephalopathy (EIEE) subtype. Contrary to what is observed in BFNE, the patients present a severe phenotype with most often a suppression burst EEG pattern and frequent polymorphic seizures. In most cases, the evolution is poor with severe neurological impairment accompanied by severe intellectual deficiency. Furthermore, a proportion of patients die within the first years of life. Mutations causing EIEE had occurred de novo in most cases.

In addition, KCNQ2 channel and voltage-gated sodium channels (VGSCs) are enriched in the axon initial segment (AIS) where they bind to ankyrin-G and coregulate membrane potential in central nervous system neurons. It has been shown that fibroblast growth factor 14 (FGF14), described as a VGSC regulator affects KCNQ function and localization. FGF14 knockdown leads to a reduction of KCNQ2 in the AIS and a reduction in whole-cell KCNQ currents. FGF14 positively regulates KCNQ2 channel in a simplified expression system. FGF14 interacts with KCNQ2 at a site distinct from the FGF14–VGSC interaction surface, thus enabling the bridging of Na_V1.6 and KCNQ2.

References:

Kalappa B I, et al. Potent KCNQ2/3-Specific Channel Activator Suppresses In Vivo Epileptic Activity and Prevents the Development of Tinnitus. Journal of Neuroscience, 2015, 35(23):8829-8842.
Soh H, et al. Conditional Deletions of Epilepsy-Associated KCNQ2 and KCNQ3 Channels from Cerebral Cortex Cause Differential Effects on Neuronal Excitability. Journal of Neuroscience, 2014, 34(15):5311-5321.
Milh M, et al. Variable clinical expression in patients with mosaicism for KCNQ2 mutations. American Journal of Medical Genetics Part A, 2015, 167(10):2314-2318.

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