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 ^[6] and autism. ^{[7] [8]}

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]

Interactions

KvLQT3 has been shown to interact with KCNQ5. ^[9]

References

1. GRCh38: Ensembl release 89: ENSG00000184156 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000056258 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. "Entrez Gene: KCNQ3 potassium voltage-gated channel, KQT-like subfamily, member 3".
6. Nardello R, Mangano GD, Miceli F, Fontana A, Piro E, Salpietro V (December 2020). "Benign familial infantile epilepsy associated with KCNQ3 mutation: a rare occurrence or an underestimated event?". Epileptic Disorders. 22 (6): 807–810. doi:10.1684/epd.2020.1221. PMID   33337327.
7. Sands TT, Miceli F, Lesca G, Beck AE, Sadleir LG, Arrington DK, et al. (August 2019). "Autism and developmental disability caused by KCNQ3 gain-of-function variants". Annals of Neurology. 86 (2): 181–192. doi:10.1002/ana.25522. hdl: 2078.1/224457 . PMID   31177578.
8. Arredondo K, Myers C, Hansen-Kiss E, Mathew MT, Jayaraman V, Siemon A, et al. (May 2022). "Phenotypic Spectrum in a Family Sharing a Heterozygous KCNQ3 Variant". Journal of Child Neurology. 37 (6): 517–523. doi:10.1177/08830738221089741. PMID   35384780.
9. Yus-Nájera E, Muñoz A, Salvador N, Jensen BS, Rasmussen HB, Defelipe J, et al. (2003). "Localization of KCNQ5 in the normal and epileptic human temporal neocortex and hippocampal formation". Neuroscience. 120 (2): 353–364. doi:10.1016/S0306-4522(03)00321-X. PMID   12890507. S2CID   38381189.

Further reading

• Gutman GA, Chandy KG, Grissmer S, Lazdunski M, McKinnon D, Pardo LA, et al. (December 2005). "International Union of Pharmacology. LIII. Nomenclature and molecular relationships of voltage-gated potassium channels". Pharmacological Reviews. 57 (4): 473–508. doi:10.1124/pr.57.4.10. PMID   16382104. S2CID   219195192.
• Ryan SG, Wiznitzer M, Hollman C, Torres MC, Szekeresova M, Schneider S (May 1991). "Benign familial neonatal convulsions: evidence for clinical and genetic heterogeneity". Annals of Neurology. 29 (5): 469–473. doi:10.1002/ana.410290504. PMID   1859177. S2CID   25424485.
• Lewis TB, Leach RJ, Ward K, O'Connell P, Ryan SG (September 1993). "Genetic heterogeneity in benign familial neonatal convulsions: identification of a new locus on chromosome 8q". American Journal of Human Genetics. 53 (3): 670–675. PMC   1682419 . PMID   8102508.
• Charlier C, Singh NA, Ryan SG, Lewis TB, Reus BE, Leach RJ, et al. (January 1998). "A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family". Nature Genetics. 18 (1): 53–55. doi:10.1038/ng0198-53. PMID   9425900. S2CID   10437379.
• Yang WP, Levesque PC, Little WA, Conder ML, Ramakrishnan P, Neubauer MG, et al. (July 1998). "Functional expression of two KvLQT1-related potassium channels responsible for an inherited idiopathic epilepsy". The Journal of Biological Chemistry. 273 (31): 19419–19423. doi: 10.1074/jbc.273.31.19419 . PMID   9677360.
• Wang HS, Pan Z, Shi W, Brown BS, Wymore RS, Cohen IS, et al. (December 1998). "KCNQ2 and KCNQ3 potassium channel subunits: molecular correlates of the M-channel". Science. 282 (5395): 1890–1893. Bibcode:1998Sci...282.1890W. doi:10.1126/science.282.5395.1890. PMID   9836639.
• Schroeder BC, Kubisch C, Stein V, Jentsch TJ (December 1998). "Moderate loss of function of cyclic-AMP-modulated KCNQ2/KCNQ3 K+ channels causes epilepsy". Nature. 396 (6712): 687–690. Bibcode:1998Natur.396..687S. doi:10.1038/25367. PMID   9872318. S2CID   4417442.
• Kubisch C, Schroeder BC, Friedrich T, Lütjohann B, El-Amraoui A, Marlin S, et al. (February 1999). "KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafness". Cell. 96 (3): 437–446. doi: 10.1016/S0092-8674(00)80556-5 . PMID   10025409.
• Selyanko AA, Hadley JK, Wood IC, Abogadie FC, Delmas P, Buckley NJ, et al. (September 1999). "Two types of K(+) channel subunit, Erg1 and KCNQ2/3, contribute to the M-like current in a mammalian neuronal cell". The Journal of Neuroscience. 19 (18): 7742–7756. doi:10.1523/JNEUROSCI.19-18-07742.1999. PMC   6782456 . PMID   10479678.
• Shapiro MS, Roche JP, Kaftan EJ, Cruzblanca H, Mackie K, Hille B (March 2000). "Reconstitution of muscarinic modulation of the KCNQ2/KCNQ3 K(+) channels that underlie the neuronal M current". The Journal of Neuroscience. 20 (5): 1710–1721. doi: 10.1523/JNEUROSCI.20-05-01710.2000 . PMC   6772928 . PMID   10684873.
• Rundfeldt C, Netzer R (March 2000). "The novel anticonvulsant retigabine activates M-currents in Chinese hamster ovary-cells tranfected with human KCNQ2/3 subunits". Neuroscience Letters. 282 (1–2): 73–76. doi:10.1016/S0304-3940(00)00866-1. PMID   10713399. S2CID   28431577.
• Selyanko AA, Hadley JK, Wood IC, Abogadie FC, Jentsch TJ, Brown DA (February 2000). "Inhibition of KCNQ1-4 potassium channels expressed in mammalian cells via M1 muscarinic acetylcholine receptors". The Journal of Physiology. 522 Pt 3 (Pt 3): 349–355. doi:10.1111/j.1469-7793.2000.t01-2-00349.x. PMC   2269765 . PMID   10713961.
• Cooper EC, Aldape KD, Abosch A, Barbaro NM, Berger MS, Peacock WS, et al. (April 2000). "Colocalization and coassembly of two human brain M-type potassium channel subunits that are mutated in epilepsy". Proceedings of the National Academy of Sciences of the United States of America. 97 (9): 4914–4919. Bibcode:2000PNAS...97.4914C. doi: 10.1073/pnas.090092797 . PMC   18332 . PMID   10781098.
• Schwake M, Pusch M, Kharkovets T, Jentsch TJ (May 2000). "Surface expression and single channel properties of KCNQ2/KCNQ3, M-type K+ channels involved in epilepsy". The Journal of Biological Chemistry. 275 (18): 13343–13348. doi: 10.1074/jbc.275.18.13343 . PMID   10788442.
• Hirose S, Zenri F, Akiyoshi H, Fukuma G, Iwata H, Inoue T, et al. (June 2000). "A novel mutation of KCNQ3 (c.925T-->C) in a Japanese family with benign familial neonatal convulsions". Annals of Neurology. 47 (6): 822–826. doi:10.1002/1531-8249(200006)47:6<822::AID-ANA19>3.0.CO;2-X. PMID   10852552. S2CID   11096248.
• Main MJ, Cryan JE, Dupere JR, Cox B, Clare JJ, Burbidge SA (August 2000). "Modulation of KCNQ2/3 potassium channels by the novel anticonvulsant retigabine". Molecular Pharmacology. 58 (2): 253–262. doi:10.1124/mol.58.2.253. PMID   10908292. S2CID   11112809.
• Wickenden AD, Yu W, Zou A, Jegla T, Wagoner PK (September 2000). "Retigabine, a novel anti-convulsant, enhances activation of KCNQ2/Q3 potassium channels". Molecular Pharmacology. 58 (3): 591–600. doi:10.1124/mol.58.3.591. PMID   10953053.
• Tinel N, Diochot S, Lauritzen I, Barhanin J, Lazdunski M, Borsotto M (September 2000). "M-type KCNQ2-KCNQ3 potassium channels are modulated by the KCNE2 subunit". FEBS Letters. 480 (2–3): 137–141. Bibcode:2000FEBSL.480..137T. doi: 10.1016/S0014-5793(00)01918-9 . PMID   11034315. S2CID   8386123.
• Wickenden AD, Zou A, Wagoner PK, Jegla T (January 2001). "Characterization of KCNQ5/Q3 potassium channels expressed in mammalian cells". British Journal of Pharmacology. 132 (2): 381–384. doi:10.1038/sj.bjp.0703861. PMC   1572592 . PMID   11159685.
• Yus-Najera E, Santana-Castro I, Villarroel A (August 2002). "The identification and characterization of a noncontinuous calmodulin-binding site in noninactivating voltage-dependent KCNQ potassium channels". The Journal of Biological Chemistry. 277 (32): 28545–28553. doi: 10.1074/jbc.M204130200 . PMID   12032157.

External links

• KCNQ3+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.