Glutamate [NMDA] receptor subunit epsilon-1 Recombinant Protein | GRIN2A recombinant protein

Recombinant Human Glutamate [NMDA] receptor subunit epsilon-1

Cat. Num. AAA1265091

• Gene Names: GRIN2A; LKS; EPND; FESD; NR2A; GluN2A; NMDAR2A
• Purity: Greater or equal to 85% purity as determined by SDS-PAGE.
• Synonyms: Glutamate [NMDA] receptor subunit epsilon-1; Recombinant Human Glutamate [NMDA] receptor subunit epsilon-1; N-methyl D-aspartate receptor subtype 2A; NMDAR2A; NR2A; hNR2A; GRIN2A recombinant protein

• Host: E Coli or Yeast or Baculovirus or Mammalian Cell
• Purity/Purification: Greater or equal to 85% purity as determined by SDS-PAGE.
• Form/Format: Lyophilized or liquid (Format to be determined during the manufacturing process)
• Sequence Positions: 501-550aa & 601-630aa & 701-750aa; Partial
• Sequence: VYQRAVMAVGSLTINEERSEVVDFSVPFVETGISVMVSRSNGTVSPSAFLIGKAIWLLWGLVFNNSVPVQNPKGTTSKIMMHQYMTKFNQKGVEDALVSLKTGKLDAFIYDAAVLNYKAGRDEGCKLVTI

• Preparation and Storage: Store at -20 degree C, for extended storage, conserve at -20 degree C or -80 degree C.

SDS-PAGE

Related Product Information for GRIN2A recombinant protein

NMDA receptor subtype of glutamate-gated ion channels possesses high calcium permeability and voltage-dependent sensitivity to magnesium. Activation requires binding of agonist to both types of subunits.

Product Categories/Family for GRIN2A recombinant protein

Transport

References

Human N-methyl-D-aspartate receptor modulatory subunit hNR2A cloning and sequencing of the cDNA and primary structure of the protein.Foldes R.L., Adams S.L., Fantaske R.P., Kamboj R.K.Biochim. Biophys. Acta 1223:155-159(1994) Cloning and functional characterization of human heteromeric N-methyl-D-aspartate receptors.Hess S.D., Daggett L.P., Crona J., Deal C., Lu C.-C., Urrutia A., Chavez-Noriega L., Ellis S.B., Johnson E.C., Velicelebi G.J. Pharmacol. Exp. Ther. 278:808-816(1996) The sequence and analysis of duplication-rich human chromosome 16.Martin J., Han C., Gordon L.A., Terry A., Prabhakar S., She X., Xie G., Hellsten U., Chan Y.M., Altherr M., Couronne O., Aerts A., Bajorek E., Black S., Blumer H., Branscomb E., Brown N.C., Bruno W.J., Buckingham J.M., Callen D.F., Campbell C.S., Campbell M.L., Campbell E.W., Caoile C., Challacombe J.F., Chasteen L.A., Chertkov O., Chi H.C., Christensen M., Clark L.M., Cohn J.D., Denys M., Detter J.C., Dickson M., Dimitrijevic-Bussod M., Escobar J., Fawcett J.J., Flowers D., Fotopulos D., Glavina T., Gomez M., Gonzales E., Goodstein D., Goodwin L.A., Grady D.L., Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Hildebrand C.E., Huang W., Israni S., Jett J., Jewett P.B., Kadner K., Kimball H., Kobayashi A., Krawczyk M.-C., Leyba T., Longmire J.L., Lopez F., Lou Y., Lowry S., Ludeman T., Manohar C.F., Mark G.A., McMurray K.L., Meincke L.J., Morgan J., Moyzis R.K., Mundt M.O., Munk A.C., Nandkeshwar R.D., Pitluck S., Pollard M., Predki P., Parson-Quintana B., Ramirez L., Rash S., Retterer J., Ricke D.O., Robinson D.L., Rodriguez A., Salamov A., Saunders E.H., Scott D., Shough T., Stallings R.L., Stalvey M., Sutherland R.D., Tapia R., Tesmer J.G., Thayer N., Thompson L.S., Tice H., Torney D.C., Tran-Gyamfi M., Tsai M., Ulanovsky L.E., Ustaszewska A., Vo N., White P.S., Williams A.L., Wills P.L., Wu J.-R., Wu K., Yang J., DeJong P., Bruce D., Doggett N.A., Deaven L., Schmutz J., Grimwood J., Richardson P., Rokhsar D.S., Eichler E.E., Gilna P., Lucas S.M., Myers R.M., Rubin E.M., Pennacchio L.A.Nature 432:988-994(2004) Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes.Endele S., Rosenberger G., Geider K., Popp B., Tamer C., Stefanova I., Milh M., Kortum F., Fritsch A., Pientka F.K., Hellenbroich Y., Kalscheuer V.M., Kohlhase J., Moog U., Rappold G., Rauch A., Ropers H.H., von Spiczak S., Tonnies H., Villeneuve N., Villard L., Zabel B., Zenker M., Laube B., Reis A., Wieczorek D., Van Maldergem L., Kutsche K.Nat. Genet. 42:1021-1026(2010) Exome sequencing identifies GRIN2A as frequently mutated in melanoma.Wei X., Walia V., Lin J.C., Teer J.K., Prickett T.D., Gartner J., Davis S., Stemke-Hale K., Davies M.A., Gershenwald J.E., Robinson W., Robinson S., Rosenberg S.A., Samuels Y.Nat. Genet. 43:442-446(2011) Diagnostic exome sequencing in persons with severe intellectual disability.de Ligt J., Willemsen M.H., van Bon B.W., Kleefstra T., Yntema H.G., Kroes T., Vulto-van Silfhout A.T., Koolen D.A., de Vries P., Gilissen C., del Rosario M., Hoischen A., Scheffer H., de Vries B.B., Brunner H.G., Veltman J.A., Vissers L.E.N. Engl. J. Med. 367:1921-1929(2012) GRIN2A mutations in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech and language dysfunction.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.Nat. Genet. 45:1061-1066(2013) Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes.Lemke J.R., Lal D., Reinthaler E.M., Steiner I., Nothnagel M., Alber M., Geider K., Laube B., Schwake M., Finsterwalder K., Franke A., Schilhabel M., Jahn J.A., Muhle H., Boor R., Van Paesschen W., Caraballo R., Fejerman N., Weckhuysen S., De Jonghe P., Larsen J., Moller R.S., Hjalgrim H., Addis L., Tang S., Hughes E., Pal D.K., Veri K., Vaher U., Talvik T., Dimova P., Guerrero Lopez R., Serratosa J.M., Linnankivi T., Lehesjoki A.E., Ruf S., Wolff M., Buerki S., Wohlrab G., Kroell J., Datta A.N., Fiedler B., Kurlemann G., Kluger G., Hahn A., Haberlandt D.E., Kutzer C., Sperner J., Becker F., Weber Y.G., Feucht M., Steinbock H., Neophythou B., Ronen G.M., Gruber-Sedlmayr U., Geldner J., Harvey R.J., Hoffmann P., Herms S., Altmuller J., Toliat M.R., Thiele H., Nurnberg P., Wilhelm C., Stephani U., Helbig I., Lerche H., Zimprich F., Neubauer B.A., Biskup S., von Spiczak S.Nat. Genet. 45:1067-1072(2013) GRIN2A mutations cause epilepsy-aphasia spectrum disorders.Carvill G.L., Regan B.M., Yendle S.C., O'Roak B.J., Lozovaya N., Bruneau N., Burnashev N., Khan A., Cook J., Geraghty E., Sadleir L.G., Turner S.J., Tsai M.H., Webster R., Ouvrier R., Damiano J.A., Berkovic S.F., Shendure J., Hildebrand M.S., Szepetowski P., Scheffer I.E., Mefford H.C.Nat. Genet. 45:1073-1076(2013) Evidence that GRIN2A mutations in melanoma correlate with decreased survival.D'mello S.A., Flanagan J.U., Green T.N., Leung E.Y., Askarian-Amiri M.E., Joseph W.R., McCrystal M.R., Isaacs R.J., Shaw J.H., Furneaux C.E., During M.J., Finlay G.J., Baguley B.C., Kalev-Zylinska M.L.Front. Oncol. 3:333-333(2014) Whole-exome sequencing in an individual with severe global developmental delay and intractable epilepsy identifies a novel, de novo GRIN2A mutation.FORGE Canada ConsortiumVenkateswaran S., Myers K.A., Smith A.C., Beaulieu C.L., Schwartzentruber J.A., Majewski J., Bulman D., Boycott K.M., Dyment D.A.Epilepsia 55:E75-E79(2014) Functional analysis of a de novo GRIN2A missense mutation associated with early-onset epileptic encephalopathy.Yuan H., Hansen K.B., Zhang J., Pierson T.M., Markello T.C., Fajardo K.V., Holloman C.M., Golas G., Adams D.R., Boerkoel C.F., Gahl W.A., Traynelis S.F.Nat. Commun. 5:3251-3251(2014)

NCBI and Uniprot Product Information

• NCBI GI #: 4504125
• NCBI GeneID: 2903
• NCBI Accession #: NP_000824.1
• NCBI GenBank Nucleotide #: NM_000833.4
• UniProt Accession #: Q12879; O00669; Q17RZ6
• Molecular Weight: 18.2 kDa
• NCBI Official Full Name: glutamate receptor ionotropic, NMDA 2A isoform 1
• NCBI Official Synonym Full Names: glutamate ionotropic receptor NMDA type subunit 2A
• NCBI Official Symbol: GRIN2A
• NCBI Official Synonym Symbols: LKS; EPND; FESD; NR2A; GluN2A; NMDAR2A
• NCBI Protein Information: glutamate receptor ionotropic, NMDA 2A
• UniProt Protein Name: Glutamate receptor ionotropic, NMDA 2A
• Protein Family: Glutamate receptor ionotropic
• UniProt Gene Name: GRIN2A
• UniProt Synonym Gene Names: NMDAR2A; GluN2A; NMDAR2A; NR2A; hNR2A
• UniProt Entry Name: NMDE1_HUMAN

NCBI Description

This gene encodes a member of the glutamate-gated ion channel protein family. The encoded protein is an N-methyl-D-aspartate (NMDA) receptor subunit. NMDA receptors are both ligand-gated and voltage-dependent, and are involved in long-term potentiation, an activity-dependent increase in the efficiency of synaptic transmission thought to underlie certain kinds of memory and learning. These receptors are permeable to calcium ions, and activation results in a calcium influx into post-synaptic cells, which results in the activation of several signaling cascades. Disruption of this gene is associated with focal epilepsy and speech disorder with or without mental retardation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]

Uniprot Description

NMDAR2A: a subunit of N-methyl-D-aspartate (NMDA) receptors, members of the glutamate receptor channel superfamily. Possesses high calcium permeability and voltage-dependent sensitivity to magnesium and is modulated by glycine. Plays a key role in synaptic plasticity, synaptogenesis, excitotoxicity, memory acquisition and learning. Mediates neuronal functions in glutamate neurotransmission.

Protein type: Membrane protein, integral; Membrane protein, multi-pass; Channel, ligand-gated

Chromosomal Location of Human Ortholog: 16p13.2

Cellular Component: cell junction; cell surface; endoplasmic reticulum; integral to plasma membrane; N-methyl-D-aspartate selective glutamate receptor complex; neuron projection; plasma membrane; postsynaptic membrane; presynaptic membrane; synaptic vesicle

Molecular Function: calcium channel activity; extracellular-glutamate-gated ion channel activity; N-methyl-D-aspartate selective glutamate receptor activity; protein binding; zinc ion binding

Biological Process: activation of MAPKK activity; axon guidance; directional locomotion; dopamine metabolic process; epidermal growth factor receptor signaling pathway; fibroblast growth factor receptor signaling pathway; glutamate signaling pathway; innate immune response; insulin receptor signaling pathway; ionotropic glutamate receptor signaling pathway; learning and/or memory; MAPKKK cascade; memory; negative regulation of protein catabolic process; nerve growth factor receptor signaling pathway; positive regulation of apoptosis; protein localization; Ras protein signal transduction; regulation of excitatory postsynaptic membrane potential; regulation of sensory perception of pain; response to amphetamine; response to drug; response to ethanol; response to wounding; sensory perception of pain; serotonin metabolic process; sleep; small GTPase mediated signal transduction; startle response; synaptic transmission; transport; vascular endothelial growth factor receptor signaling pathway; visual learning

Disease: Epilepsy, Focal, With Speech Disorder And With Or Without Mental Retardation