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KvLQT2

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From Wikipedia, the free encyclopedia

Protein-coding gene in humans

KCNQ2

Identifiers

Aliases

KCNQ2, BFNC, BFNS1, EBN, EBN1, EIEE7, ENB1, HNSPC, KCNA11, KV7.2, KVEBN1, potassium voltage-gated channel subfamily Q member 2, DEE7

External IDs

OMIM:602235;MGI:1309503;HomoloGene:26174;GeneCards:KCNQ2;OMA:KCNQ2 - orthologs

Gene location (Human)

Chr.	Chromosome 20 (human)^[1]

Band	20q13.33	Start	63,400,208bp^[1]
Band	20q13.33	End	63,472,677bp^[1]

Gene location (Mouse)

Chr.	Chromosome 2 (mouse)^[2]

Band	2 H4\|2 103.57 cM	Start	180,717,372bp^[2]
Band	2 H4\|2 103.57 cM	End	180,777,093bp^[2]

RNA expression pattern

Bgee

Human

Mouse (ortholog)

Top expressed in

right hemisphere of cerebellum

right frontal lobe

right testis

ganglionic eminence

amygdala

left testis

nucleus accumbens

dorsolateral prefrontal cortex

superior frontal gyrus

caudate nucleus

Top expressed in

Region I of hippocampus proper

CA3 field

perirhinal cortex

entorhinal cortex

subiculum

dentate gyrus

primary visual cortex

nucleus accumbens

facial motor nucleus

superior frontal gyrus

More reference expression data

BioGPS


More reference expression data

Gene ontology
Molecular function	ankyrin binding ion channel activity voltage-gated ion channel activity voltage-gated potassium channel activity potassium channel activity calmodulin binding protein binding delayed rectifier potassium channel activity
Cellular component	axon initial segment node of Ranvier membrane integral component of membrane integral component of plasma membrane voltage-gated potassium channel complex plasma membrane
Biological process	regulation of ion transmembrane transport ion transport transmembrane transport nervous system development chemical synaptic transmission potassium ion transport potassium ion transmembrane transport
Sources:Amigo /QuickGO

Orthologs

Species

Human

Mouse

Entrez


3785


16536

Ensembl


ENSG00000075043 ENSG00000281151


ENSMUSG00000016346

UniProt


O43526


Q9Z351

RefSeq (mRNA)

NM_004518 NM_172106 NM_172107 NM_172108 NM_172109
NM_001382235

NM_001003824 NM_001003825 NM_001006668 NM_001006669 NM_001006674
NM_001006675 NM_001006676 NM_001006677 NM_001006678 NM_001006679 NM_001006680 NM_010611 NM_001302888

RefSeq (protein)

NP_004509 NP_742104 NP_742105 NP_742106 NP_742107
NP_001369164

NP_001003824 NP_001003825 NP_001006669 NP_001006670 NP_001006675
NP_001289817 NP_034741

Location (UCSC)

Chr 20: 63.4 – 63.47 Mb

Chr 2: 180.72 – 180.78 Mb

PubMed search

^[3]

^[4]

Wikidata

View/Edit Human

View/Edit Mouse

K_v7.2 (KvLQT2) is a voltage- andlipid-gated potassium channel protein coded for by thegene KCNQ2.

Mutations in the KCNQ2 gene are dominant autosomally inherited causes ofbenign familial neonatal epilepsy.^[5]

Function

[edit]

The M channel is a slowly activating and deactivatingpotassium 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 byretigabine, 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 differentisoforms have been found for this gene.^[6]

Ligands

[edit]

ICA-069673: channel opener at KCNQ2/Q3, 20-fold selective over KCNQ3/Q5, no measurable activity against a panel of cardiac ion channels (hERG,Nav1.5, L type channels, andKCNQ1) and no activity onGABA_A gated channels at 10 μM. A range of related benzamides exhibited activity, of which compound number 40 is shown here.^[7]
ML252: channel inhibitor, IC₅₀ = 70nM.^[8]
Phosphatidylinositol 4,5-bisphosphate (PIP₂)

References

[edit]

^^a ^b ^cENSG00000281151 GRCh38: Ensembl release 89: ENSG00000075043, ENSG00000281151 –Ensembl, May 2017
^^a ^b ^cGRCm38: Ensembl release 89: ENSMUSG00000016346 –Ensembl, May 2017
^"Human PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
^Miceli F, Soldovieri MV, Weckhuysen S, Cooper E, Taglialatela M (1993)."KCNQ2-Related Disorders". In Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A (eds.).GeneReviews. University of Washington, Seattle.PMID 20437616. Retrieved8 September 2024 – via National Library of Medicine.
^"Entrez Gene: KCNQ2 potassium voltage-gated channel, KQT-like subfamily, member 2".
^Amato G (2011)."N -Pyridyl and Pyrimidine Benzamides as KCNQ2/Q3 Potassium Channel Openers for the Treatment of Epilepsy".ACS Medicinal Chemistry Letters.2 (6):481–484.doi:10.1021/ml200053x.PMC 4018159.PMID 24900334.
^Cheung YY, Yu H, Xu K, Zou B, Wu M, McManus OB, et al. (August 2012)."Discovery of a series of 2-phenyl-N-(2-(pyrrolidin-1-yl)phenyl)acetamides as novel molecular switches that modulate modes of K(v)7.2 (KCNQ2) channel pharmacology: identification of (S)-2-phenyl-N-(2-(pyrrolidin-1-yl)phenyl)butanamide (ML252) as a potent, brain penetrant K(v)7.2 channel inhibitor".Journal of Medicinal Chemistry.55 (15):6975–9.doi:10.1021/jm300700v.PMC 3530927.PMID 22793372.

External links

[edit]

KCNQ2+Potassium+Channel at the U.S. National Library of MedicineMedical Subject Headings (MeSH)

This article incorporates text from theUnited States National Library of Medicine, which is in thepublic domain.

Membrane transport protein:ion channels (TC 1A)

Ca²⁺:Calcium channel

Ligand-gated	Inositol trisphosphate receptor 1 2 3 Ryanodine receptor 1 2 3
Voltage-gated	L-type/Ca_vα 1.1 1.2 1.3 1.4 N-type/Ca_vα2.2 P-type/Ca_vα 2.1 Q-type/Ca_vα2.1 R-type/Ca_vα2.3 T-type/Ca_vα 3.1 3.2 3.3 α₂δ-subunits 1 2 β-subunits β1 β2 β3 β4 γ-subunits γ1 γ2 γ3 γ4 Cation channels of sperm 1 2 3 4 Two-pore channel 1 2

Na⁺:Sodium channel

Constitutively active	Epithelial sodium channel α β γ δ
Proton-gated	Amiloride-sensitive cation channel 1 2 3 4
Voltage-gated	Na_vα 1.1 1.2 1.3 1.4 1.5 1.6 1.7 1.8 1.9 7A Na_vβ 1 2 3 4

K⁺:Potassium channel

Calcium-activated	BK channel α1 β1 β2 β3 β4 SK channel SK1 SK2 SK3 IK channel IK1 K_Ca 1.1 2.1 2.2 2.3 3.1 4.1 4.2 5.1
Inward-rectifier	K_ATP K_ir 1.1 2.1 2.2 2.3 2.4 2.6 GIRK/K_ir 3.1 3.2 3.3 3.4 K_ir 4.1 4.2 5.1 6.1 6.2 7.1
Tandem pore domain	K2P 1 2 3 4 5 6 7 9 10 12 13 15 16 17 18
Voltage-gated	K_vα1-6 1.1 1.2 1.3 1.4 1.5 1.6 1.7 1.8 2.1 2.2 3.1 3.2 3.3 3.4 4.1 4.2 4.3 5.1 6.1 6.2 6.3 6.4 K_vα7-12 7.1 7.2 7.3 7.4 7.5 8.1 8.2 9.1 9.2 9.3 10.1 10.2 11.1/hERG 11.2 11.3 12.1 12.2 12.3 K_vβ 1 2 3 KCNIP 1 2 3 4 minK/ISK minK/ISK-like MiRP 1 2 3 Shaker (gene)

Miscellaneous

Cl⁻:Chloride channel	Calcium-activated chloride channels Anoctamin ANO1 Bestrophin 1 2 Chloride Channel Accessory 1 2 3 4 CFTR CLCN 1 2 3 4 5 6 7 KA KB CLIC 1 2 3 4 5 6 L1 CLNS 1A 1B
H⁺:Proton channel	HVCN1
M⁺:CNG cation channel	α 1 2 3 4 β 1 2 3 HCN FC 1 2 3 4
M⁺:TRP cation channel	TRPA (1) TRPC 1 2 3 4 4AP 5 6 7 TRPM 1 2 3 4 5 6 7 8 TRPML 1 2 3 TRPN TRPP 1 2 TRPV 1 2 3 4 5 6
H₂O (+solutes):Porin	Aquaporin 0 1 2 3 4 5 6 7 8 9 Voltage-dependent anion channel 1 2 3 General bacterial porin family
Cytoplasm:Gap junction	Connexin A GJA1 GJA3 GJA4 GJA5 GJA8 GJA9 GJA10 B GJB1 GJB2 GJB3 GJB4 GJB5 GJB6 GJB7 C GJC1 GJC2 GJC3 D GJD2 GJD3 GJD4 Innexin