glutamate ionotropic receptor NMDA type subunit 2A
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The GRIN2A gene provides instructions for making a protein called GluN2A (formerly known as NR2A). This protein is found in nerve cells (neurons) in the brain and spinal cord, including regions of the brain involved in speech and language.
Normal function
The GRIN2A gene provides instructions for making a protein called GluN2A (formerly known as NR2A). This protein is found in nerve cells (neurons) in the brain and spinal cord, including regions of the brain involved in speech and language.
The GluN2A protein is one component (subunit) of a subset of NMDA receptors. There are several types of NMDA receptors, made up of different combinations of protein components. NMDA receptors are glutamate-gated ion channels; when brain chemicals called glutamate and glycine attach to the receptor, a channel opens, allowing positively charged particles (cations) to flow through. The flow of cations generates currents that activate (excite) neurons to send signals in the brain. NMDA receptors are involved in normal brain development, changes in the brain in response to experience (synaptic plasticity), learning, and memory. They also appear to play a role during deep (slow-wave) sleep.
The GluN2A subunit of NMDA receptors determines where in the brain the receptor is located and how it functions. It also provides the site to which glutamate binds.
Conditions referring to this gene or chromosome
Other names
EPND
GluN2A
glutamate receptor ionotropic, NMDA 2A isoform 1 precursor
glutamate receptor ionotropic, NMDA 2A isoform 2 precursor
glutamate receptor, ionotropic, N-methyl D-aspartate 2A
LKS
N-methyl D-aspartate receptor subtype 2A
N-methyl-D-aspartate receptor channel, subunit epsilon-1
N-methyl-D-aspartate receptor subunit 2A
NMDAR2A
NR2A
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Leitura adicional e referências
- glutamate ionotropic receptor NMDA type subunit 2A; MedlinePlus, National Library of Medicine.
- Burnashev N, Szepetowski P. NMDA receptor subunit mutations in neurodevelopmental disorders. Curr Opin Pharmacol. 2015 Feb;20:73-82. doi: 10.1016/j.coph.2014.11.008. Epub 2014 Dec 11.
- Carvill GL, Regan BM, Yendle SC, O'Roak BJ, Lozovaya N, Bruneau N, Burnashev N, Khan A, Cook J, Geraghty E, Sadleir LG, Turner SJ, Tsai MH, Webster R, Ouvrier R, Damiano JA, Berkovic SF, Shendure J, Hildebrand MS, Szepetowski P, Scheffer IE, Mefford HC. GRIN2A mutations cause epilepsy-aphasia spectrum disorders. Nat Genet. 2013 Sep;45(9):1073-6. doi: 10.1038/ng.2727. Epub 2013 Aug 11.
- Lemke JR, Lal D, Reinthaler EM, Steiner I, Nothnagel M, Alber M, Geider K, Laube B, Schwake M, Finsterwalder K, Franke A, Schilhabel M, Jahn JA, Muhle H, Boor R, Van Paesschen W, Caraballo R, Fejerman N, Weckhuysen S, De Jonghe P, Larsen J, Moller RS, Hjalgrim H, Addis L, Tang S, Hughes E, Pal DK, Veri K, Vaher U, Talvik T, Dimova P, Guerrero Lopez R, Serratosa JM, Linnankivi T, Lehesjoki AE, Ruf S, Wolff M, Buerki S, Wohlrab G, Kroell J, Datta AN, Fiedler B, Kurlemann G, Kluger G, Hahn A, Haberlandt DE, Kutzer C, Sperner J, Becker F, Weber YG, Feucht M, Steinbock H, Neophythou B, Ronen GM, Gruber-Sedlmayr U, Geldner J, Harvey RJ, Hoffmann P, Herms S, Altmuller J, Toliat MR, Thiele H, Nurnberg P, Wilhelm C, Stephani U, Helbig I, Lerche H, Zimprich F, Neubauer BA, Biskup S, von Spiczak S. Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes. Nat Genet. 2013 Sep;45(9):1067-72. doi: 10.1038/ng.2728. Epub 2013 Aug 11.
- Lesca G, Rudolf G, Bruneau N, Lozovaya N, Labalme A, Boutry-Kryza N, Salmi M, Tsintsadze T, Addis L, Motte J, Wright S, Tsintsadze V, Michel A, Doummar D, Lascelles K, Strug L, Waters P, de Bellescize J, Vrielynck P, de Saint Martin A, Ville D, Ryvlin P, Arzimanoglou A, Hirsch E, Vincent A, Pal D, Burnashev N, Sanlaville D, Szepetowski P. GRIN2A mutations in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech and language dysfunction. Nat Genet. 2013 Sep;45(9):1061-6. doi: 10.1038/ng.2726. Epub 2013 Aug 11.
- Paoletti P. Molecular basis of NMDA receptor functional diversity. Eur J Neurosci. 2011 Apr;33(8):1351-65. doi: 10.1111/j.1460-9568.2011.07628.x. Epub 2011 Mar 14.
- Reutlinger C, Helbig I, Gawelczyk B, Subero JI, Tonnies H, Muhle H, Finsterwalder K, Vermeer S, Pfundt R, Sperner J, Stefanova I, Gillessen-Kaesbach G, von Spiczak S, van Baalen A, Boor R, Siebert R, Stephani U, Caliebe A. Deletions in 16p13 including GRIN2A in patients with intellectual disability, various dysmorphic features, and seizure disorders of the rolandic region. Epilepsia. 2010 Sep;51(9):1870-3. doi: 10.1111/j.1528-1167.2010.02555.x.
- Turner SJ, Mayes AK, Verhoeven A, Mandelstam SA, Morgan AT, Scheffer IE. GRIN2A: an aptly named gene for speech dysfunction. Neurology. 2015 Feb 10;84(6):586-93. doi: 10.1212/WNL.0000000000001228. Epub 2015 Jan 16.
- Wyllie DJ, Livesey MR, Hardingham GE. Influence of GluN2 subunit identity on NMDA receptor function. Neuropharmacology. 2013 Nov;74:4-17. doi: 10.1016/j.neuropharm.2013.01.016. Epub 2013 Jan 31.
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