KvLQT3

KCNQ3
Identifiers
Aliases	KCNQ3, BFNC2, EBN2, KV7.3, potassium voltage-gated channel subfamily Q member 3
External IDs	OMIM: 602232; MGI: 1336181; HomoloGene: 20949; GeneCards: KCNQ3; OMA:KCNQ3 - orthologs
Gene location (Human) Chr. Chromosome 8 (human)[1] Band 8q24.22 Start 132,120,859 bp[1] End 132,481,095 bp[1]
Gene location (Mouse) Chr. Chromosome 15 (mouse)[2] Band 15 D1|15 29.16 cM Start 65,858,236 bp[2] End 66,158,491 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in ganglionic eminence lateral nuclear group of thalamus Brodmann area 23 pars compacta endothelial cell pons middle temporal gyrus postcentral gyrus pars reticulata entorhinal cortex Top expressed in medial geniculate nucleus lateral geniculate nucleus medial dorsal nucleus piriform cortex olfactory tubercle primary motor cortex globus pallidus cingulate gyrus ventromedial nucleus temporal lobe More reference expression data BioGPS More reference expression data
Gene ontology Molecular function voltage-gated ion channel activity ion channel activity voltage-gated potassium channel activity potassium channel activity calmodulin binding protein binding delayed rectifier potassium channel activity Cellular component membrane plasma membrane node of Ranvier cell surface axon initial segment integral component of membrane integral component of plasma membrane voltage-gated potassium channel complex Biological process membrane hyperpolarization regulation of ion transmembrane transport ion transport transmembrane transport chemical synaptic transmission potassium ion transport potassium ion transmembrane transport Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 3786 110862 Ensembl ENSG00000184156 ENSMUSG00000056258 UniProt O43525 Q8K3F6 RefSeq (mRNA) NM_001204824 NM_004519 NM_152923 RefSeq (protein) NP_001191753 NP_004510 NP_690887 Location (UCSC) Chr 8: 132.12 – 132.48 Mb Chr 15: 65.86 – 66.16 Mb PubMed search [3] [4]
Wikidata
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K_v7.3 (KvLQT3) is a potassium channel protein coded for by the gene KCNQ3.^[5]

It is associated with benign familial neonatal epilepsy.

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 one of two related proteins encoded by the KCNQ2 and KCNQ5 genes, 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 2 (BFNC2), also known as epilepsy, benign neonatal type 2 (EBN2).^[5]