glutamate ionotropic receptor NMDA type subunit 2B
Dernière mise à jour 18 Aug 2020
Respecte les directives éditoriales
- TéléchargerTélécharger
- Partager
- Language
- Discussion
- Version audio
- Ajouter aux sources préférées sur Google
La 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
La 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
Other names
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
Related patient information and medicines
Patient information leaflet
Mastocytose et troubles des mastocytes
A mast cell is a type of white blood cell. There are several forms of mastocytosis. I... These include: Physical triggers - for example, heat, cold, rubbing, sunlight, tiredness, lots of exercise, a high temperature (fever). Emotional triggers - for example, stress. Some foods - for example, cheese, spices, shellfish, food preservatives,.
Patient information leaflet
Maladie du motoneurone
Motor neurone disease (MND) is a neurological condition causes a progressive weakness and wasting of many of the muscles in the body. This leaflet is mainly about amyotrophic lateral sclerosis (ALS), which is the most common type of motor neurone disease. It can slow down the disease ... Riluzole works by its effect on glutamate - a chemical which.
Patient information leaflet
Cancer du sein
Blood vessels, lymph channels and nerves (like all other areas of the body). Types of breast cancer Carcinoma in situ Some people are diagnosed when the cancerous cells are still totally within a duct or lobule. These are called carcinoma in situ (or non-invasive breast cancer), as no cancer cells have grown out from their original site. Ductal.
Patient information leaflet
Tumeurs cérébrales
This leaflet aims to give a brief overview of the various types of brain tumours. The treatment and survival rates vary greatly, depending on factors such as the type of tumour and the location in the brain. Understanding the brain The main parts of the brain include: The cerebrum. This is divided into the right side (right hemisphere) which.
Patient information leaflet
Cancer de la bouche
Mouth cancer can affect any part of the mouth, including the tongue et lips. The most common symptoms are having a sore or ulcer for more than three weeks. You should see your dentist or doctor if you have any symptoms in your mouth that are unusual. The outlook (prognosis) for people with mouth cancer is good if it is diagnosed early. What is.
Patient information leaflet
Groupes sanguins et types
ABO et rhesus are both types de antigènes found on the surface of red blood cells. There are lots of other types but these are the most important. The main reasons to know your blood group are if you need to have a blood transfusion or if you are pregnant. What is a blood group. Red blood cells (erythrocytes) have certain proteins on their.
Lectures complémentaires et références
- 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.
- Hu C, Chen W, Myers SJ, Yuan H, Traynelis SF. Human GRIN2B variants in neurodevelopmental disorders. J Pharmacol Sci. 2016 Oct;132(2):115-121. doi: 10.1016/j.jphs.2016.10.002. Epub 2016 Oct 19.
- Platzer K, Yuan H, Schutz H, Winschel A, Chen W, Hu C, Kusumoto H, Heyne HO, Helbig KL, Tang S, Willing MC, Tinkle BT, Adams DJ, Depienne C, Keren B, Mignot C, Frengen E, Stromme P, Biskup S, Docker D, Strom TM, Mefford HC, Myers CT, Muir AM, LaCroix A, Sadleir L, Scheffer IE, Brilstra E, van Haelst MM, van der Smagt JJ, Bok LA, Moller RS, Jensen UB, Millichap JJ, Berg AT, Goldberg EM, De Bie I, Fox S, Major P, Jones JR, Zackai EH, Abou Jamra R, Rolfs A, Leventer RJ, Lawson JA, Roscioli T, Jansen FE, Ranza E, Korff CM, Lehesjoki AE, Courage C, Linnankivi T, Smith DR, Stanley C, Mintz M, McKnight D, Decker A, Tan WH, Tarnopolsky MA, Brady LI, Wolff M, Dondit L, Pedro HF, Parisotto SE, Jones KL, Patel AD, Franz DN, Vanzo R, Marco E, Ranells JD, Di Donato N, Dobyns WB, Laube B, Traynelis SF, Lemke JR. GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects. J Med Genet. 2017 Jul;54(7):460-470. doi: 10.1136/jmedgenet-2016-104509. Epub 2017 Apr 4.
- 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.
Participez à la conversation
Partagez vos pensées ou expériences avec les autres dans notre communautés de patients.
Demandez, partagez, connectez-vous.
Parcourez les discussions, posez des questions et partagez vos expériences sur des centaines de sujets de santé.
Inscrivez-vous à la newsletter Patient
Votre dose hebdomadaire de conseils de santé clairs et fiables - rédigés pour vous aider à vous sentir informé, confiant et maître de la situation.
En vous abonnant, vous acceptez notre Politique de confidentialité. Vous pouvez vous désabonner à tout moment. Nous ne vendons jamais vos données.