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NameGlutamate receptor ionotropic, NMDA 2A
Synonyms
  • GluN2A
  • Glutamate [NMDA] receptor subunit epsilon-1
  • hNR2A
  • N-methyl D-aspartate receptor subtype 2A
  • NMDAR2A
  • NR2A
Gene NameGRIN2A
OrganismHuman
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 residues1464
Molecular Weight165281.215
Theoretical pI7.11
GO Classification
Functions
  • NMDA glutamate receptor activity
  • zinc ion binding
  • glutamate binding
  • extracellular-glutamate-gated ion channel activity
  • voltage-gated cation channel activity
  • calcium channel activity
  • neurotransmitter binding
Processes
  • synaptic transmission
  • memory
  • cellular response to magnesium ion
  • ion transmembrane transport
  • cellular response to manganese ion
  • MAPK cascade
  • ionotropic glutamate receptor signaling pathway
  • rhythmic process
  • response to ethanol
  • cellular response to dsRNA
  • neurotrophin TRK receptor signaling pathway
  • learning or memory
  • response to methylmercury
  • cellular response to lipid
  • Ras protein signal transduction
  • long-term synaptic potentiation
  • vascular endothelial growth factor receptor signaling pathway
  • startle response
  • axon guidance
  • excitatory postsynaptic potential
  • response to wounding
  • directional locomotion
  • epidermal growth factor receptor signaling pathway
  • regulation of sensory perception of pain
  • sleep
  • negative regulation of protein catabolic process
  • innate immune response
  • visual learning
  • transport
  • dopamine metabolic process
  • response to carbohydrate
  • positive regulation of apoptotic process
  • response to other organism
  • response to amphetamine
  • action potential
  • protein localization
  • response to calcium ion
  • cerebral cortex development
  • Fc-epsilon receptor signaling pathway
  • sensory perception of pain
  • serotonin metabolic process
  • cellular response to amino acid stimulus
  • response to drug
  • response to cocaine
  • response to fungicide
  • protein tetramerization
  • cellular response to zinc ion
  • activation of MAPKK activity
  • glutamate receptor signaling pathway
  • spinal cord development
  • regulation of long-term neuronal synaptic plasticity
  • fibroblast growth factor receptor signaling pathway
  • synaptic transmission, glutamatergic
  • small GTPase mediated signal transduction
  • hippocampus development
  • insulin receptor signaling pathway
Components
  • NMDA selective glutamate receptor complex
  • cell surface
  • presynaptic membrane
  • synaptic vesicle
  • cell junction
  • terminal bouton
  • dendrite
  • integral component of plasma membrane
  • postsynaptic membrane
  • endoplasmic reticulum
  • plasma membrane
  • neuronal postsynaptic density
General FunctionZinc ion binding
Specific FunctionNMDA 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 Regions556-576 634-654 817-837
GenBank Protein ID558749
UniProtKB IDQ12879
UniProtKB Entry NameNMDE1_HUMAN
Cellular LocationCell 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
GenBank Gene IDU09002
GeneCard IDNot Available
GenAtlas IDGRIN2A
HGNC IDHGNC:4585
Chromosome Location16
Locus16p13.2
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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 24504326