Glutamate receptor ionotropic, NMDA 2A

Details

Name
Glutamate receptor ionotropic, NMDA 2A
Synonyms
  • GluN2A
  • Glutamate [NMDA] receptor subunit epsilon-1
  • hNR2A
  • N-methyl D-aspartate receptor subtype 2A
  • NMDAR2A
  • NR2A
Gene Name
GRIN2A
Organism
Humans
Amino acid sequence
>lcl|BSEQ0001516|Glutamate receptor ionotropic, NMDA 2A
MGRVGYWTLLVLPALLVWRGPAPSAAAEKGPPALNIAVMLGHSHDVTERELRTLWGPEQA
AGLPLDVNVVALLMNRTDPKSLITHVCDLMSGARIHGLVFGDDTDQEAVAQMLDFISSHT
FVPILGIHGGASMIMADKDPTSTFFQFGASIQQQATVMLKIMQDYDWHVFSLVTTIFPGY
REFISFVKTTVDNSFVGWDMQNVITLDTSFEDAKTQVQLKKIHSSVILLYCSKDEAVLIL
SEARSLGLTGYDFFWIVPSLVSGNTELIPKEFPSGLISVSYDDWDYSLEARVRDGIGILT
TAASSMLEKFSYIPEAKASCYGQMERPEVPMHTLHPFMVNVTWDGKDLSFTEEGYQVHPR
LVVIVLNKDREWEKVGKWENHTLSLRHAVWPRYKSFSDCEPDDNHLSIVTLEEAPFVIVE
DIDPLTETCVRNTVPCRKFVKINNSTNEGMNVKKCCKGFCIDILKKLSRTVKFTYDLYLV
TNGKHGKKVNNVWNGMIGEVVYQRAVMAVGSLTINEERSEVVDFSVPFVETGISVMVSRS
NGTVSPSAFLEPFSASVWVMMFVMLLIVSAIAVFVFEYFSPVGYNRNLAKGKAPHGPSFT
IGKAIWLLWGLVFNNSVPVQNPKGTTSKIMVSVWAFFAVIFLASYTANLAAFMIQEEFVD
QVTGLSDKKFQRPHDYSPPFRFGTVPNGSTERNIRNNYPYMHQYMTKFNQKGVEDALVSL
KTGKLDAFIYDAAVLNYKAGRDEGCKLVTIGSGYIFATTGYGIALQKGSPWKRQIDLALL
QFVGDGEMEELETLWLTGICHNEKNEVMSSQLDIDNMAGVFYMLAAAMALSLITFIWEHL
FYWKLRFCFTGVCSDRPGLLFSISRGIYSCIHGVHIEEKKKSPDFNLTGSQSNMLKLLRS
AKNISSMSNMNSSRMDSPKRAADFIQRGSLIMDMVSDKGNLMYSDNRSFQGKESIFGDNM
NELQTFVANRQKDNLNNYVFQGQHPLTLNESNPNTVEVAVSTESKANSRPRQLWKKSVDS
IRQDSLSQNPVSQRDEATAENRTHSLKSPRYLPEEMAHSDISETSNRATCHREPDNSKNH
KTKDNFKRSVASKYPKDCSEVERTYLKTKSSSPRDKIYTIDGEKEPGFHLDPPQFVENVT
LPENVDFPDPYQDPSENFRKGDSTLPMNRNPLHNEEGLSNNDQYKLYSKHFTLKDKGSPH
SETSERYRQNSTHCRSCLSNMPTYSGHFTMRSPFKCDACLRMGNLYDIDEDQMLQETGNP
ATGEQVYQQDWAQNNALQLQKNKLRISRQHSYDNIVDKPRELDLSRPSRSISLKDRERLL
EGNFYGSLFSVPSSKLSGKKSSLFPQGLEDSKRSKSLLPDHTSDNPFLHSHRDDQRLVIG
RCPSDPYKHSLPSQAVNDSYLRSSLRSTASYCSRDSRGHNDVYISEHVMPYAANKNNMYS
TPRVLNSCSNRRVYKKMPSIESDV
Number of residues
1464
Molecular Weight
165281.215
Theoretical pI
7.11
GO Classification
Functions
calcium channel activity / extracellular-glutamate-gated ion channel activity / glutamate binding / neurotransmitter binding / NMDA glutamate receptor activity / voltage-gated cation channel activity / zinc ion binding
Processes
action potential / activation of MAPKK activity / axon guidance / cellular response to amino acid stimulus / cellular response to dsRNA / cellular response to lipid / cellular response to magnesium ion / cellular response to manganese ion / cellular response to zinc ion / cerebral cortex development / directional locomotion / dopamine metabolic process / epidermal growth factor receptor signaling pathway / excitatory postsynaptic potential / Fc-epsilon receptor signaling pathway / fibroblast growth factor receptor signaling pathway / glutamate receptor signaling pathway / hippocampus development / innate immune response / insulin receptor signaling pathway / ion transmembrane transport / ionotropic glutamate receptor signaling pathway / learning or memory / long-term synaptic potentiation / MAPK cascade / memory / negative regulation of protein catabolic process / neurotrophin TRK receptor signaling pathway / positive regulation of apoptotic process / protein localization / protein tetramerization / Ras protein signal transduction / regulation of long-term neuronal synaptic plasticity / regulation of sensory perception of pain / response to amphetamine / response to calcium ion / response to carbohydrate / response to cocaine / response to drug / response to ethanol / response to fungicide / response to methylmercury / response to other organism / response to wounding / rhythmic process / sensory perception of pain / serotonin metabolic process / sleep / small GTPase mediated signal transduction / spinal cord development / startle response / synaptic transmission / synaptic transmission, glutamatergic / transport / vascular endothelial growth factor receptor signaling pathway / visual learning
Components
cell junction / cell surface / dendrite / endoplasmic reticulum / integral component of plasma membrane / neuronal postsynaptic density / NMDA selective glutamate receptor complex / plasma membrane / postsynaptic membrane / presynaptic membrane / synaptic vesicle / terminal bouton
General Function
Zinc ion binding
Specific Function
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.
Pfam Domain Function
Transmembrane Regions
556-576 634-654 817-837
Cellular Location
Cell membrane
Gene sequence
>lcl|BSEQ0016199|Glutamate receptor ionotropic, NMDA 2A (GRIN2A)
ATGGGCAGAGTGGGCTATTGGACCCTGCTGGTGCTGCCGGCCCTTCTGGTCTGGCGCGGT
CCGGCGCCGAGCGCGGCGGCGGAGAAGGGTCCCCCCGCGCTAAATATTGCGGTGATGCTG
GGTCACAGCCACGACGTGACAGAGCGCGAACTTCGAACACTGTGGGGCCCCGAGCAGGCG
GCGGGGCTGCCCCTGGACGTGAACGTGGTAGCTCTGCTGATGAACCGCACCGACCCCAAG
AGCCTCATCACGCACGTGTGCGACCTCATGTCCGGGGCACGCATCCACGGCCTCGTGTTT
GGGGACGACACGGACCAGGAGGCCGTAGCCCAGATGCTGGATTTTATCTCCTCCCACACC
TTCGTCCCCATCTTGGGCATTCATGGGGGCGCATCTATGATCATGGCTGACAAGGATCCG
ACGTCTACCTTCTTCCAGTTTGGAGCGTCCATCCAGCAGCAAGCCACGGTCATGCTGAAG
ATCATGCAGGATTATGACTGGCATGTCTTCTCCCTGGTGACCACTATCTTCCCTGGCTAC
AGGGAATTCATCAGCTTCGTCAAGACCACAGTGGACAACAGCTTTGTGGGCTGGGACATG
CAGAATGTGATCACACTGGACACTTCCTTTGAGGATGCAAAGACACAAGTCCAGCTGAAG
AAGATCCACTCTTCTGTCATCTTGCTCTACTGTTCCAAAGACGAGGCTGTTCTCATTCTG
AGTGAGGCCCGCTCCCTTGGCCTCACCGGGTATGATTTCTTCTGGATTGTCCCCAGCTTG
GTCTCTGGGAACACGGAGCTCATCCCAAAAGAGTTTCCATCGGGACTCATTTCTGTCTCC
TACGATGACTGGGACTACAGCCTGGAGGCGAGAGTGAGGGACGGCATTGGCATCCTAACC
ACCGCTGCATCTTCTATGCTGGAGAAGTTCTCCTACATCCCCGAGGCCAAGGCCAGCTGC
TACGGGCAGATGGAGAGGCCAGAGGTCCCGATGCACACCTTGCACCCATTTATGGTCAAT
GTTACATGGGATGGCAAAGACTTATCCTTCACTGAGGAAGGCTACCAGGTGCACCCCAGG
CTGGTGGTGATTGTGCTGAACAAAGACCGGGAATGGGAAAAGGTGGGCAAGTGGGAGAAC
CATACGCTGAGCCTGAGGCACGCCGTGTGGCCCAGGTACAAGTCCTTCTCCGACTGTGAG
CCGGATGACAACCATCTCAGCATCGTCACCCTGGAGGAGGCCCCATTCGTCATCGTGGAA
GACATAGACCCCCTGACCGAGACGTGTGTGAGGAACACCGTGCCATGTCGGAAGTTCGTC
AAAATCAACAATTCAACCAATGAGGGGATGAATGTGAAGAAATGCTGCAAGGGGTTCTGC
ATTGATATTCTGAAGAAGCTTTCCAGAACTGTGAAGTTTACTTACGACCTCTATCTGGTG
ACCAATGGGAAGCATGGCAAGAAAGTTAACAATGTGTGGAATGGAATGATCGGTGAAGTG
GTCTATCAACGGGCAGTCATGGCAGTTGGCTCGCTCACCATCAATGAGGAACGTTCTGAA
GTGGTGGACTTCTCTGTGCCCTTTGTGGAAACGGGAATCAGTGTCATGGTTTCAAGAAGT
AATGGCACCGTCTCACCTTCTGCTTTTCTAGAACCATTCAGCGCCTCTGTCTGGGTGATG
ATGTTTGTGATGCTGCTCATTGTTTCTGCCATAGCTGTTTTTGTCTTTGAATACTTCAGC
CCTGTTGGATACAACAGAAACTTAGCCAAAGGGAAAGCACCCCATGGGCCTTCTTTTACA
ATTGGAAAAGCTATATGGCTTCTTTGGGGCCTGGTGTTCAATAACTCCGTGCCTGTCCAG
AATCCTAAAGGGACCACCAGCAAGATCATGGTATCTGTATGGGCCTTCTTCGCTGTCATA
TTCCTGGCTAGCTACACAGCCAATCTGGCTGCCTTCATGATCCAAGAGGAATTTGTGGAC
CAAGTGACCGGCCTCAGTGACAAAAAGTTTCAGAGACCTCATGACTATTCCCCACCTTTT
CGATTTGGGACAGTGCCTAATGGAAGCACGGAGAGAAACATTCGGAATAACTATCCCTAC
ATGCATCAGTACATGACCAAATTTAATCAGAAAGGAGTAGAGGACGCCTTGGTCAGCCTG
AAAACGGGGAAGCTGGACGCTTTCATCTACGATGCCGCAGTCTTGAATTACAAGGCTGGG
AGGGATGAAGGCTGCAAGCTGGTGACCATCGGGAGTGGGTACATCTTTGCCACCACCGGT
TATGGAATTGCCCTTCAGAAAGGCTCTCCTTGGAAGAGGCAGATCGACCTGGCCTTGCTT
CAGTTTGTGGGTGATGGTGAGATGGAGGAGCTGGAGACCCTGTGGCTCACTGGGATCTGC
CACAACGAGAAGAACGAGGTGATGAGCAGCCAGCTGGACATTGACAACATGGCGGGCGTA
TTCTACATGCTGGCTGCCGCCATGGCCCTTAGCCTCATCACCTTCATCTGGGAGCACCTC
TTCTACTGGAAGCTGCGCTTCTGTTTCACGGGCGTGTGCTCCGACCGGCCTGGGTTGCTC
TTCTCCATCAGCAGGGGCATCTACAGCTGCATTCATGGAGTGCACATTGAAGAAAAGAAG
AAGTCTCCAGACTTCAATCTGACGGGATCCCAGAGCAACATGTTAAAACTCCTCCGGTCA
GCCAAAAACATTTCCAGCATGTCCAACATGAACTCCTCAAGAATGGACTCACCCAAAAGA
GCTGCTGACTTCATCCAAAGAGGTTCCCTCATCATGGACATGGTTTCAGATAAGGGGAAT
TTGATGTACTCAGACAACAGGTCCTTTCAGGGGAAAGAGAGCATTTTTGGAGACAACATG
AACGAACTCCAAACATTTGTGGCCAACCGGCAGAAGGATAACCTCAATAACTATGTATTC
CAGGGACAACATCCTCTTACTCTCAATGAGTCCAACCCTAACACGGTGGAGGTGGCCGTG
AGCACAGAATCCAAAGCGAACTCTAGACCCCGGCAGCTGTGGAAGAAATCCGTGGATTCC
ATACGCCAGGATTCACTATCCCAGAATCCAGTCTCCCAGAGGGATGAGGCAACAGCAGAG
AATAGGACCCACTCCCTAAAGAGCCCTAGGTATCTTCCAGAAGAGATGGCCCACTCTGAC
ATTTCAGAAACGTCAAATCGGGCCACGTGCCACAGGGAACCTGACAACAGTAAGAACCAC
AAAACCAAGGACAACTTTAAAAGGTCAGTGGCCTCCAAATACCCCAAGGACTGTAGTGAG
GTCGAGCGCACCTACCTGAAAACCAAATCAAGCTCCCCTAGAGACAAGATCTACACTATA
GATGGTGAGAAGGAGCCTGGTTTCCACTTAGATCCACCCCAGTTTGTTGAAAATGTGACC
CTGCCCGAGAACGTGGACTTCCCGGACCCCTACCAGGATCCCAGTGAAAACTTCCGCAAG
GGGGACTCCACGCTGCCAATGAACCGGAACCCCTTGCATAATGAAGAGGGGCTTTCCAAC
AACGACCAGTATAAACTCTACTCCAAGCACTTCACCTTGAAAGACAAGGGTTCCCCGCAC
AGTGAGACCAGCGAGCGATACCGGCAGAACTCCACGCACTGCAGAAGCTGCCTTTCCAAC
ATGCCCACCTATTCAGGCCACTTCACCATGAGGTCCCCCTTCAAGTGCGATGCCTGCCTG
CGGATGGGGAACCTCTATGACATCGATGAAGACCAGATGCTTCAGGAGACAGGTAACCCA
GCCACCGGGGAGCAGGTCTACCAGCAGGACTGGGCACAGAACAATGCCCTTCAATTACAA
AAGAACAAGCTAAGGATTAGCCGTCAGCATTCCTACGATAACATTGTCGACAAACCTAGG
GAGCTAGACCTTAGCAGGCCCTCCCGGAGCATAAGCCTCAAGGACAGGGAACGGCTTCTG
GAGGGAAATTTTTACGGCAGCCTGTTTAGTGTCCCCTCAAGCAAACTCTCGGGGAAAAAA
AGCTCCCTTTTCCCCCAAGGTCTGGAGGACAGCAAGAGGAGCAAGTCTCTCTTGCCAGAC
CACACCTCCGATAACCCTTTCCTCCACTCCCACAGGGATGACCAACGCTTGGTTATTGGG
AGATGCCCCTCGGACCCTTACAAACACTCGTTGCCATCCCAGGCGGTGAATGACAGCTAT
CTTCGGTCGTCCTTGAGGTCAACGGCATCGTACTGTTCCAGGGACAGTCGGGGCCACAAT
GATGTGTATATTTCGGAGCATGTTATGCCTTATGCTGCAAATAAGAATAATATGTACTCT
ACCCCCAGGGTTTTAAATTCCTGCAGCAATAGACGCGTGTACAAGAAAATGCCTAGTATC
GAATCTGATGTTTAA
Chromosome Location
16
Locus
16p13.2
External Identifiers
ResourceLink
UniProtKB IDQ12879
UniProtKB Entry NameNMDE1_HUMAN
GenBank Protein ID558749
GenBank Gene IDU09002
GenAtlas IDGRIN2A
HGNC IDHGNC:4585
General References
  1. Foldes RL, Adams SL, Fantaske RP, Kamboj RK: Human N-methyl-D-aspartate receptor modulatory subunit hNR2A: cloning and sequencing of the cDNA and primary structure of the protein. Biochim Biophys Acta. 1994 Aug 11;1223(1):155-9. [PubMed:8061049]
  2. Hess SD, Daggett LP, Crona J, Deal C, Lu CC, Urrutia A, Chavez-Noriega L, Ellis SB, Johnson EC, Velicelebi G: Cloning and functional characterization of human heteromeric N-methyl-D-aspartate receptors. J Pharmacol Exp Ther. 1996 Aug;278(2):808-16. [PubMed:8768735]
  3. Martin J, Han C, Gordon LA, Terry A, Prabhakar S, She X, Xie G, Hellsten U, Chan YM, Altherr M, Couronne O, Aerts A, Bajorek E, Black S, Blumer H, Branscomb E, Brown NC, Bruno WJ, Buckingham JM, Callen DF, Campbell CS, Campbell ML, Campbell EW, Caoile C, Challacombe JF, Chasteen LA, Chertkov O, Chi HC, Christensen M, Clark LM, Cohn JD, Denys M, Detter JC, Dickson M, Dimitrijevic-Bussod M, Escobar J, Fawcett JJ, Flowers D, Fotopulos D, Glavina T, Gomez M, Gonzales E, Goodstein D, Goodwin LA, Grady DL, Grigoriev I, Groza M, Hammon N, Hawkins T, Haydu L, Hildebrand CE, Huang W, Israni S, Jett J, Jewett PB, Kadner K, Kimball H, Kobayashi A, Krawczyk MC, Leyba T, Longmire JL, Lopez F, Lou Y, Lowry S, Ludeman T, Manohar CF, Mark GA, McMurray KL, Meincke LJ, Morgan J, Moyzis RK, Mundt MO, Munk AC, Nandkeshwar RD, Pitluck S, Pollard M, Predki P, Parson-Quintana B, Ramirez L, Rash S, Retterer J, Ricke DO, Robinson DL, Rodriguez A, Salamov A, Saunders EH, Scott D, Shough T, Stallings RL, Stalvey M, Sutherland RD, Tapia R, Tesmer JG, Thayer N, Thompson LS, Tice H, Torney DC, Tran-Gyamfi M, Tsai M, Ulanovsky LE, Ustaszewska A, Vo N, White PS, Williams AL, Wills PL, Wu JR, Wu K, Yang J, Dejong P, Bruce D, Doggett NA, Deaven L, Schmutz J, Grimwood J, Richardson P, Rokhsar DS, Eichler EE, Gilna P, Lucas SM, Myers RM, Rubin EM, Pennacchio LA: The sequence and analysis of duplication-rich human chromosome 16. Nature. 2004 Dec 23;432(7020):988-94. [PubMed:15616553]
  4. Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed:15489334]
  5. Endele S, Rosenberger G, Geider K, Popp B, Tamer C, Stefanova I, Milh M, Kortum F, Fritsch A, Pientka FK, Hellenbroich Y, Kalscheuer VM, Kohlhase J, Moog U, Rappold G, Rauch A, Ropers HH, von Spiczak S, Tonnies H, Villeneuve N, Villard L, Zabel B, Zenker M, Laube B, Reis A, Wieczorek D, Van Maldergem L, Kutsche K: Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes. Nat Genet. 2010 Nov;42(11):1021-6. doi: 10.1038/ng.677. Epub 2010 Oct 3. [PubMed:20890276]
  6. Wei X, Walia V, Lin JC, Teer JK, Prickett TD, Gartner J, Davis S, Stemke-Hale K, Davies MA, Gershenwald JE, Robinson W, Robinson S, Rosenberg SA, Samuels Y: Exome sequencing identifies GRIN2A as frequently mutated in melanoma. Nat Genet. 2011 May;43(5):442-6. doi: 10.1038/ng.810. Epub 2011 Apr 15. [PubMed:21499247]
  7. de Ligt J, Willemsen MH, van Bon BW, Kleefstra T, Yntema HG, Kroes T, Vulto-van Silfhout AT, Koolen DA, de Vries P, Gilissen C, del Rosario M, Hoischen A, Scheffer H, de Vries BB, Brunner HG, Veltman JA, Vissers LE: Diagnostic exome sequencing in persons with severe intellectual disability. N Engl J Med. 2012 Nov 15;367(20):1921-9. doi: 10.1056/NEJMoa1206524. Epub 2012 Oct 3. [PubMed:23033978]
  8. 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. [PubMed:23933820]
  9. 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. [PubMed:23933819]
  10. 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. [PubMed:23933818]
  11. D'mello SA, Flanagan JU, Green TN, Leung EY, Askarian-Amiri ME, Joseph WR, McCrystal MR, Isaacs RJ, Shaw JH, Furneaux CE, During MJ, Finlay GJ, Baguley BC, Kalev-Zylinska ML: Evidence That GRIN2A Mutations in Melanoma Correlate with Decreased Survival. Front Oncol. 2014 Jan 13;3:333. doi: 10.3389/fonc.2013.00333. eCollection 2014 Jan 13. [PubMed:24455489]
  12. Venkateswaran S, Myers KA, Smith AC, Beaulieu CL, Schwartzentruber JA, Majewski J, Bulman D, Boycott KM, Dyment DA: Whole-exome sequencing in an individual with severe global developmental delay and intractable epilepsy identifies a novel, de novo GRIN2A mutation. Epilepsia. 2014 Jul;55(7):e75-9. doi: 10.1111/epi.12663. Epub 2014 Jun 5. [PubMed:24903190]
  13. Yuan H, Hansen KB, Zhang J, Pierson TM, Markello TC, Fajardo KV, Holloman CM, Golas G, Adams DR, Boerkoel CF, Gahl WA, Traynelis SF: Functional analysis of a de novo GRIN2A missense mutation associated with early-onset epileptic encephalopathy. Nat Commun. 2014;5:3251. doi: 10.1038/ncomms4251. [PubMed:24504326]

Drug Relations

Drug Relations
DrugBank IDNameDrug groupPharmacological action?ActionsDetails
DB01043Memantineapproved, investigationalyesantagonistDetails
DB00949FelbamateapprovedyesantagonistDetails
DB00142Glutamic Acidapproved, nutraceuticalunknownDetails
DB00145Glycineapproved, nutraceutical, vet_approvedunknownantagonistDetails
DB01520Tenocyclidineexperimental, illicit, investigationalyesantagonistDetails
DB01159Halothaneapproved, vet_approvedunknownantagonistDetails
DB00454MeperidineapprovedunknownantagonistDetails
DB06151Acetylcysteineapproved, investigationalunknownactivatorDetails