Potassium voltage-gated channel subfamily KQT member 2

UniProt O43526 Organism Homo sapiens Gene KCNQ2

Also known as: KCNQ2

Function

Pore-forming subunit of the voltage-gated potassium (Kv) M-channel which is responsible for the M-current, a key controller of neuronal excitability. M-channel is composed of pore-forming subunits KCNQ2 and KCNQ3 assembled as heterotetramers. The native M-current has a slowly activating and deactivating potassium conductance which plays a critical role in determining the subthreshold electrical excitability of neurons as well as the responsiveness to synaptic inputs. KCNQ2-KCNQ3 M-channel is selectively permeable in vitro to other cations besides potassium, in decreasing order of affinity K(+) > Rb(+) > Cs(+) > Na(+). M-channel association with SLC5A3/SMIT1 alters channel ion selectivity, increasing Na(+) and Cs(+) permeation relative to K(+). Suppressed by activation of the muscarinic acetylcholine receptor CHRM1.

Classification

Family (Pfam): PF00520 Ion_trans, PF16642 KCNQ2_u3, PF03520 KCNQ_channel, PF11956 KCNQC3-Ank-G_bd
InterPro: Ankyrin-G_BS, Ion_trans_dom, K_chnl_volt-dep_KCNQ, K_chnl_volt-dep_KCNQ2, K_chnl_volt-dep_KCNQ_C
Functional cluster: Ribosome-Biogenesis GTPases (Obg/Era/Der)

Experimental structures · PDB · 22

5J03 X-ray 2.00A
6FEG NMR
6FEH NMR
7CR0 EM 3.10A
7CR1 EM 3.40A
7CR2 EM 3.20A
7CR3 EM 3.60A
7CR4 EM 3.90A
7CR7 EM 3.70A
8IJK EM 3.40A
8IZY EM 2.50A
8J00 EM 3.00A
… and 10 more

A predicted model is available from AlphaFold.

Gene Ontology · 14

Disease associations

seizures, benign familial neonatal, 1 MONDO:0007365
developmental and epileptic encephalopathy, 7 MONDO:0013387

Drugs targeting this protein · 8

Neighborhood · nearest proteins

Nearest neighbours of Potassium voltage-gated channel subfamily KQT member 2: 3 by sequence/function similarity (left); 3 co-cited in the literature (right).

Related proteins · sequence + function similarity

Co-cited proteins · studied together in the literature

Potassium voltage-gated channel subfamily KQT member 3 16 shared papers
Potassium voltage-gated channel subfamily KQT member 3 2 shared papers
Potassium voltage-gated channel subfamily KQT member 2 2 shared papers
Sodium channel protein type 2 subunit alpha 7 shared papers
Kinesin-like protein KIF3C 1 shared papers
Thymosin beta-15A 1 shared papers
Sodium/myo-inositol cotransporter 1 shared papers
Paired mesoderm homeobox protein 2B 1 shared papers
Potassium voltage-gated channel subfamily E member 2 1 shared papers
Potassium voltage-gated channel subfamily KQT member 4 1 shared papers
Noelin 1 shared papers
Casein kinase I isoform gamma-1 1 shared papers

Literature · 42 cited papers

Ligand activation mechanisms of human KCNQ2 channel. Nat. Commun. · 2023
Molecular basis for ligand activation of the human KCNQ2 channel. Cell Res. · 2021
SMIT1 Modifies KCNQ Channel Function and Pharmacology by Physical Interaction with the Pore. Biophys. J. · 2017
Diagnostic targeted resequencing in 349 patients with drug-resistant pediatric epilepsies identifies causative mutations in 30 different genes. Hum. Mutat. · 2017
Structural insights into the M-channel proximal C-terminus/calmodulin complex. Biochemistry · 2016
Ubiquitin-specific Protease 36 (USP36) Controls Neuronal Precursor Cell-expressed Developmentally Down-regulated 4-2 (Nedd4-2) Actions over the Neurotrophin Receptor TrkA and Potassium Voltage-gated Channels 7.2/3 (Kv7.2/3). J. Biol. Chem. · 2016
Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis. J. Med. Genet. · 2016
Whole-exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome. Clin. Genet. · 2016
Familial neonatal seizures in 36 families: Clinical and genetic features correlate with outcome. Epilepsia · 2015
Diagnostic yield of genetic testing in epileptic encephalopathy in childhood. Epilepsia · 2015
Early-onset epileptic encephalopathy caused by gain-of-function mutations in the voltage sensor of Kv7.2 and Kv7.3 potassium channel subunits. J. Neurosci. · 2015
Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis. Hum. Mol. Genet. · 2014
… and 30 more in the literature graph

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