glutamate ionotropic receptor NMDA type subunit 2B
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El GRIN2B gene provides instructions for making a protein called GluN2B. This protein is found in nerve cells (neurons) in the brain, primarily during development before birth. The GluN2B protein is one component (subunit) of a subset of specialized protein structures called NMDA receptors. There are several types of NMDA receptors, made up of different combinations of proteins.
Normal function
El GRIN2B gene provides instructions for making a protein called GluN2B. This protein is found in nerve cells (neurons) in the brain, primarily during development before birth. The GluN2B protein is one component (subunit) of a subset of specialized protein structures called NMDA receptors. There are several types of NMDA receptors, made up of different combinations of proteins.
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 activates (excites) neurons to send signals to each other. The cation flow also plays a role in the process by which the neurons mature to carry out specific functions (differentiation). NMDA receptors are involved in normal brain development, changes in the brain in response to experience (synaptic plasticity), learning, and memory.
Conditions referring to this gene or chromosome
Otros nombres
GluN2B
glutamate [NMDA] receptor subunit epsilon-2
glutamate receptor ionotropic, NMDA 2B precursor
glutamate receptor subunit epsilon-2
glutamate receptor, ionotropic, N-methyl D-aspartate 2B
hNR3
N-methyl D-aspartate receptor subtype 2B
NMDAR2B
NR2B
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Lecturas adicionales y referencias
- glutamate ionotropic receptor NMDA type subunit 2B; MedlinePlus, National Library of Medicine.
- Bell S, Maussion G, Jefri M, Peng H, Theroux JF, Silveira H, Soubannier V, Wu H, Hu P, Galat E, Torres-Platas SG, Boudreau-Pinsonneault C, O'Leary LA, Galat V, Turecki G, Durcan TM, Fon EA, Mechawar N, Ernst C. Disruption of GRIN2B Impairs Differentiation in Human Neurons. Stem Cell Reports. 2018 Jul 10;11(1):183-196. doi: 10.1016/j.stemcr.2018.05.018. Epub 2018 Jun 21.
- Fedele L, Newcombe J, Topf M, Gibb A, Harvey RJ, Smart TG. Disease-associated missense mutations in GluN2B subunit alter NMDA receptor ligand binding and ion channel properties. Nat Commun. 2018 Mar 6;9(1):957. doi: 10.1038/s41467-018-02927-4.
- Freunscht I, Popp B, Blank R, Endele S, Moog U, Petri H, Prott EC, Reis A, Rubo J, Zabel B, Zenker M, Hebebrand J, Wieczorek D. Behavioral phenotype in five individuals with de novo mutations within the GRIN2B gene. Behav Brain Funct. 2013 May 29;9:20. doi: 10.1186/1744-9081-9-20.
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- Swanger SA, Chen W, Wells G, Burger PB, Tankovic A, Bhattacharya S, Strong KL, Hu C, Kusumoto H, Zhang J, Adams DR, Millichap JJ, Petrovski S, Traynelis SF, Yuan H. Mechanistic Insight into NMDA Receptor Dysregulation by Rare Variants in the GluN2A and GluN2B Agonist Binding Domains. Am J Hum Genet. 2016 Dec 1;99(6):1261-1280. doi: 10.1016/j.ajhg.2016.10.002. Epub 2016 Nov 10.
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