KvLQT2

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
Gene location (Human) Chr. Chromosome 20 (human) Band 20q13.33 Start 63,400,208 bp End 63,472,677 bp
Gene location (Mouse) Chr. Chromosome 2 (mouse) Band 2 H4|2 103.57 cM Start 180,717,372 bp End 180,777,093 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in ganglionic eminence amygdala nucleus accumbens dorsolateral prefrontal cortex superior frontal gyrus caudate nucleus Brodmann area 9 cingulate gyrus hippocampus proper middle temporal gyrus Top expressed in Region I of hippocampus proper entorhinal cortex subiculum dentate gyrus nucleus accumbens facial motor nucleus superior frontal gyrus olfactory tubercle primary motor cortex hippocampus proper 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
Wikidata
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K_v7.2 (KvLQT2) is a voltage- and lipid-gated potassium channel protein coded for by the gene KCNQ2.

It is associated with benign familial neonatal epilepsy.

Function

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.

Ligands

ICA-069673

Compound #40 (Amato 2011)

• 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, and KCNQ1) and no activity on GABA_A gated channels at 10 μM. A range of related benzamides exhibited activity, of which compound number 40 is shown here.
• ML252: channel inhibitor, IC₅₀ = 70nM.
• Phosphatidylinositol 4,5-bisphosphate (PIP₂)

Further reading

External links

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

This article incorporates text from the United States National Library of Medicine, which is in the public domain.