T3DB: Glutamate receptor ionotropic, NMDA 2B

Name	Glutamate receptor ionotropic, NMDA 2B
Synonyms	GluN2B Glutamate [NMDA] receptor subunit epsilon-2 hNR3 N-methyl D-aspartate receptor subtype 2B N-methyl-D-aspartate receptor subunit 3 NMDAR2B NR2B NR3
Gene Name	GRIN2B
Organism	Human
Amino acid sequence	>lcl\|BSEQ0010288\|Glutamate receptor ionotropic, NMDA 2B MKPRAECCSPKFWLVLAVLAVSGSRARSQKSPPSIGIAVILVGTSDEVAIKDAHEKDDFH HLSVVPRVELVAMNETDPKSIITRICDLMSDRKIQGVVFADDTDQEAIAQILDFISAQTL TPILGIHGGSSMIMADKDESSMFFQFGPSIEQQASVMLNIMEEYDWYIFSIVTTYFPGYQ DFVNKIRSTIENSFVGWELEEVLLLDMSLDDGDSKIQNQLKKLQSPIILLYCTKEEATYI FEVANSVGLTGYGYTWIVPSLVAGDTDTVPAEFPTGLISVSYDEWDYGLPARVRDGIAII TTAASDMLSEHSFIPEPKSSCYNTHEKRIYQSNMLNRYLINVTFEGRNLSFSEDGYQMHP KLVIILLNKERKWERVGKWKDKSLQMKYYVWPRMCPETEEQEDDHLSIVTLEEAPFVIVE SVDPLSGTCMRNTVPCQKRIVTENKTDEEPGYIKKCCKGFCIDILKKISKSVKFTYDLYL VTNGKHGKKINGTWNGMIGEVVMKRAYMAVGSLTINEERSEVVDFSVPFIETGISVMVSR SNGTVSPSAFLEPFSADVWVMMFVMLLIVSAVAVFVFEYFSPVGYNRCLADGREPGGPSF TIGKAIWLLWGLVFNNSVPVQNPKGTTSKIMVSVWAFFAVIFLASYTANLAAFMIQEEYV DQVSGLSDKKFQRPNDFSPPFRFGTVPNGSTERNIRNNYAEMHAYMGKFNQRGVDDALLS LKTGKLDAFIYDAAVLNYMAGRDEGCKLVTIGSGKVFASTGYGIAIQKDSGWKRQVDLAI LQLFGDGEMEELEALWLTGICHNEKNEVMSSQLDIDNMAGVFYMLGAAMALSLITFICEH LFYWQFRHCFMGVCSGKPGMVFSISRGIYSCIHGVAIEERQSVMNSPTATMNNTHSNILR LLRTAKNMANLSGVNGSPQSALDFIRRESSVYDISEHRRSFTHSDCKSYNNPPCEENLFS DYISEVERTFGNLQLKDSNVYQDHYHHHHRPHSIGSASSIDGLYDCDNPPFTTQSRSISK KPLDIGLPSSKHSQLSDLYGKFSFKSDRYSGHDDLIRSDVSDISTHTVTYGNIEGNAAKR RKQQYKDSLKKRPASAKSRREFDEIELAYRRRPPRSPDHKRYFRDKEGLRDFYLDQFRTK ENSPHWEHVDLTDIYKERSDDFKRDSVSGGGPCTNRSHIKHGTGDKHGVVSGVPAPWEKN LTNVEWEDRSGGNFCRSCPSKLHNYSTTVTGQNSGRQACIRCEACKKAGNLYDISEDNSL QELDQPAAPVAVTSNASTTKYPQSPTNSKAQKKNRNKLRRQHSYDTFVDLQKEEAALAPR SVSLKDKGRFMDGSPYAHMFEMSAGESTFANNKSSVPTAGHHHHNNPGGGYMLSKSLYPD RVTQNPFIPTFGDDQCLLHGSKSYFFRQPTVAGASKARPDFRALVTNKPVVSALHGAVPA RFQKDICIGNQSNPCVPNNKNPRAFNGSSNGHVYEKLSSIESDV
Number of residues	1484
Molecular Weight	166365.885
Theoretical pI	6.92
GO Classification	Functions glycine binding extracellular-glutamate-gated ion channel activity zinc ion binding calcium channel activity NMDA glutamate receptor activity Processes learning long-term synaptic potentiation regulation of protein kinase A signaling memory in utero embryonic development sensory organ development response to ethanol axon guidance startle response epidermal growth factor receptor signaling pathway suckling behavior excitatory postsynaptic potential innate immune response ephrin receptor signaling pathway Fc-epsilon receptor signaling pathway transport behavioral response to pain activation of MAPKK activity glutamate receptor signaling pathway fibroblast growth factor receptor signaling pathway behavioral fear response insulin receptor signaling pathway MAPK cascade neurotrophin TRK receptor signaling pathway small GTPase mediated signal transduction detection of mechanical stimulus involved in sensory perception of pain Ras protein signal transduction synaptic transmission ionotropic glutamate receptor signaling pathway vascular endothelial growth factor receptor signaling pathway learning or memory Components synaptic vesicle neuronal postsynaptic density cell junction integral component of plasma membrane postsynaptic membrane plasma membrane NMDA selective glutamate receptor complex neuron projection cell surface
General Function	Zinc ion binding
Specific Function	NMDA receptor subtype of glutamate-gated ion channels with high calcium permeability and voltage-dependent sensitivity to magnesium. Mediated by glycine. In concert with DAPK1 at extrasynaptic sites, acts as a central mediator for stroke damage. Its phosphorylation at Ser-1303 by DAPK1 enhances synaptic NMDA receptor channel activity inducing injurious Ca2+ influx through them, resulting in an irreversible neuronal death (By similarity).
Pfam Domain Function	ANF_receptor (PF01094 ) Lig_chan (PF00060 ) Lig_chan-Glu_bd (PF10613 ) NMDAR2_C (PF10565 )
Transmembrane Regions	558-578 635-655 818-838
GenBank Protein ID	1899202
UniProtKB ID	Q13224
UniProtKB Entry Name	NMDE2_HUMAN
Cellular Location	Cell membrane
Gene sequence	>lcl\|BSEQ0010289\|Glutamate receptor ionotropic, NMDA 2B (GRIN2B) ATGAAGCCCAGAGCGGAGTGCTGTTCTCCCAAGTTCTGGTTGGTGTTGGCCGTCCTGGCC GTGTCAGGCAGCAGAGCTCGTTCTCAGAAGAGCCCCCCCAGCATTGGCATTGCTGTCATC CTCGTGGGCACTTCCGACGAGGTGGCCATCAAGGATGCCCACGAGAAAGATGATTTCCAC CATCTCTCCGTGGTACCCCGGGTGGAACTGGTAGCCATGAATGAGACCGACCCAAAGAGC ATCATCACCCGCATCTGTGATCTCATGTCTGACCGGAAGATCCAGGGGGTGGTGTTTGCT GATGACACAGACCAGGAAGCCATCGCCCAGATCCTCGATTTCATTTCAGCACAGACTCTC ACCCCCATCCTGGGCATCCACGGGGGCTCCTCTATGATAATGGCAGATAAGGATGAATCC TCCATGTTCTTCCAGTTTGGCCCATCAATTGAACAGCAAGCTTCCGTAATGCTCAACATC ATGGAAGAATATGACTGGTACATCTTTTCTATCGTCACCACCTATTTCCCTGGCTACCAG GACTTTGTAAACAAGATCCGCAGCACCATTGAGAATAGCTTTGTGGGCTGGGAGCTAGAG GAGGTCCTCCTACTGGACATGTCCCTGGACGATGGAGATTCTAAGATCCAGAATCAGCTC AAGAAACTTCAAAGCCCCATCATTCTTCTTTACTGTACCAAGGAAGAAGCCACCTACATC TTTGAAGTGGCCAACTCAGTAGGGCTGACTGGCTATGGCTACACGTGGATCGTGCCCAGT CTGGTGGCAGGGGATACAGACACAGTGCCTGCGGAGTTCCCCACTGGGCTCATCTCTGTA TCATATGATGAATGGGACTATGGCCTCCCCGCCAGAGTGAGAGATGGAATTGCCATAATC ACCACTGCTGCTTCTGACATGCTGTCTGAGCACAGCTTCATCCCTGAGCCCAAAAGCAGT TGTTACAACACCCACGAGAAGAGAATCTACCAGTCCAATATGCTAAATAGGTATCTGATC AATGTCACTTTTGAGGGGAGGAATTTGTCCTTCAGTGAAGATGGCTACCAGATGCACCCG AAACTGGTGATAATTCTTCTGAACAAGGAGAGGAAGTGGGAAAGGGTGGGGAAGTGGAAA GACAAGTCCCTGCAGATGAAGTACTATGTGTGGCCCCGAATGTGTCCAGAGACTGAAGAG CAGGAGGATGACCATCTGAGCATTGTGACCCTGGAGGAGGCACCATTTGTCATTGTGGAA AGTGTGGACCCTCTGAGTGGAACCTGCATGAGGAACACAGTCCCCTGCCAAAAACGCATA GTCACTGAGAATAAAACAGACGAGGAGCCGGGTTACATCAAAAAATGCTGCAAGGGGTTC TGTATTGACATCCTTAAGAAAATTTCTAAATCTGTGAAGTTCACCTATGACCTTTACCTG GTTACCAATGGCAAGCATGGGAAGAAAATCAATGGAACCTGGAATGGTATGATTGGAGAG GTGGTCATGAAGAGGGCCTACATGGCAGTGGGCTCACTCACCATCAATGAGGAACGATCG GAGGTGGTCGACTTCTCTGTGCCCTTCATAGAGACAGGCATCAGTGTCATGGTGTCACGC AGCAATGGGACTGTCTCACCTTCTGCCTTCTTAGAGCCATTCAGCGCTGACGTATGGGTG ATGATGTTTGTGATGCTGCTCATCGTCTCAGCCGTGGCTGTCTTTGTCTTTGAGTACTTC AGCCCTGTGGGTTATAACAGGTGCCTCGCTGATGGCAGAGAGCCTGGTGGACCCTCTTTC ACCATCGGCAAAGCTATTTGGTTGCTCTGGGGTCTGGTGTTTAACAACTCCGTACCTGTG CAGAACCCAAAGGGGACCACCTCCAAGATCATGGTGTCAGTGTGGGCCTTCTTTGCTGTC ATCTTCCTGGCCAGCTACACTGCCAACTTAGCTGCCTTCATGATCCAAGAGGAATATGTG GACCAGGTTTCTGGCCTGAGCGACAAAAAGTTCCAGAGACCTAATGACTTCTCACCCCCT TTCCGCTTTGGGACCGTGCCCAACGGCAGCACAGAGAGAAATATTCGCAATAACTATGCA GAAATGCATGCCTACATGGGAAAGTTCAACCAGAGGGGTGTAGATGATGCATTGCTCTCC CTGAAAACAGGGAAACTGGATGCCTTCATCTATGATGCAGCAGTGCTGAACTATATGGCA GGCAGAGATGAAGGCTGCAAGCTGGTGACCATTGGCAGTGGGAAGGTCTTTGCTTCCACT GGCTATGGCATTGCCATCCAAAAAGATTCTGGGTGGAAGCGCCAGGTGGACCTTGCTATC CTGCAGCTCTTTGGAGATGGGGAGATGGAAGAACTGGAAGCTCTCTGGCTCACTGGCATT TGTCACAATGAGAAGAATGAGGTCATGAGCAGCCAGCTGGACATTGACAACATGGCAGGG GTCTTCTACATGTTGGGGGCGGCCATGGCTCTCAGCCTCATCACCTTCATCTGCGAACAC CTTTTCTATTGGCAGTTCCGACATTGCTTTATGGGTGTCTGTTCTGGCAAGCCTGGCATG GTCTTCTCCATCAGCAGAGGTATCTACAGCTGCATCCATGGGGTGGCGATCGAGGAGCGC CAGTCTGTAATGAACTCCCCCACCGCAACCATGAACAACACACACTCCAACATCCTGCGC CTGCTGCGCACGGCCAAGAACATGGCTAACCTGTCTGGTGTGAATGGCTCACCGCAGAGC GCCCTGGACTTCATCCGACGGGAGTCATCCGTCTATGACATCTCAGAGCACCGCCGCAGC TTCACGCATTCTGACTGCAAATCCTACAACAACCCGCCCTGTGAGGAGAACCTCTTCAGT GACTACATCAGTGAGGTAGAGAGAACGTTCGGGAACCTGCAGCTGAAGGACAGCAACGTG TACCAAGATCACTACCACCATCACCACCGGCCCCATAGTATTGGCAGTGCCAGCTCCATC GATGGGCTCTACGACTGTGACAACCCACCCTTCACCACCCAGTCCAGGTCCATCAGCAAG AAGCCCCTGGACATCGGCCTCCCCTCCTCCAAGCACAGCCAGCTCAGTGACCTGTACGGC AAATTCTCCTTCAAGAGCGACCGCTACAGTGGCCACGACGACTTGATCCGCTCCGATGTC TCTGACATCTCAACCCACACCGTCACCTATGGGAACATCGAGGGCAATGCCGCCAAGAGG CGTAAGCAGCAATATAAGGACAGCCTGAAGAAGCGGCCTGCCTCGGCCAAGTCCCGCAGG GAGTTTGACGAGATCGAGCTGGCCTACCGTCGCCGACCGCCCCGCTCCCCTGACCACAAG CGCTACTTCAGGGACAAGGAAGGGCTACGGGACTTCTACCTGGACCAGTTCCGAACAAAG GAGAACTCACCCCACTGGGAGCACGTAGACCTGACCGACATCTACAAGGAGCGGAGTGAT GACTTTAAGCGCGACTCCGTCAGCGGAGGAGGGCCCTGTACCAACAGGTCTCACATCAAG CACGGGACGGGCGACAAACACGGCGTGGTCAGCGGGGTACCTGCACCTTGGGAGAAGAAC CTGACCAACGTGGAGTGGGAGGACCGGTCCGGGGGCAACTTCTGCCGCAGCTGTCCCTCC AAGCTGCACAACTACTCCACGACGGTGACGGGTCAGAACTCGGGCAGGCAGGCGTGCATC CGGTGTGAGGCTTGCAAGAAAGCAGGCAACCTGTATGACATCAGTGAGGACAACTCCCTG CAGGAACTGGACCAGCCGGCTGCCCCAGTGGCGGTGACGTCAAACGCCTCCACCACTAAG TACCCTCAGAGCCCGACTAATTCCAAGGCCCAGAAGAAGAACCGGAACAAACTGCGCCGG CAGCACTCCTACGACACCTTCGTGGACCTGCAGAAGGAAGAAGCCGCCCTGGCCCCGCGC AGCGTAAGCCTGAAAGACAAGGGCCGATTCATGGATGGGAGCCCCTACGCCCACATGTTT GAGATGTCAGCTGGCGAGAGCACCTTTGCCAACAACAAGTCCTCAGTGCCCACTGCCGGA CATCACCACCACAACAACCCCGGCGGCGGGTACATGCTCAGCAAGTCGCTCTACCCTGAC CGGGTCACGCAAAACCCTTTCATCCCCACTTTTGGGGACGACCAGTGCTTGCTCCATGGC AGCAAATCCTACTTCTTCAGGCAGCCCACGGTGGCGGGGGCGTCGAAAGCCAGGCCGGAC TTCCGGGCCCTTGTCACCAACAAGCCGGTGGTCTCGGCCCTTCATGGGGCCGTGCCAGCC CGTTTCCAGAAGGACATCTGTATAGGGAACCAGTCCAACCCCTGTGTGCCTAACAACAAA AACCCCAGGGCTTTCAATGGCTCCAGCAATGGGCATGTTTATGAGAAACTTTCTAGTATT GAGTCTGATGTCTGA
GenBank Gene ID	U90278
GeneCard ID	Not Available
GenAtlas ID	GRIN2B
HGNC ID	HGNC:4586
Chromosome Location	12
Locus	12p12
References	Adams SL, Foldes RL, Kamboj RK: Human N-methyl-D-aspartate receptor modulatory subunit hNR3: cloning and sequencing of the cDNA and primary structure of the protein. Biochim Biophys Acta. 1995 Jan 2;1260(1):105-8. 7999784 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 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 Mandich P, Schito AM, Bellone E, Antonacci R, Finelli P, Rocchi M, Ajmar F: Mapping of the human NMDAR2B receptor subunit gene (GRIN2B) to chromosome 12p12. Genomics. 1994 Jul 1;22(1):216-8. 7959773 Schito AM, Pizzuti A, Di Maria E, Schenone A, Ratti A, Defferrari R, Bellone E, Mancardi GL, Ajmar F, Mandich P: mRNA distribution in adult human brain of GRIN2B, a N-methyl-D-aspartate (NMDA) receptor subunit. Neurosci Lett. 1997 Dec 12;239(1):49-53. 9547169 Wu Y, Dowbenko D, Spencer S, Laura R, Lee J, Gu Q, Lasky LA: Interaction of the tumor suppressor PTEN/MMAC with a PDZ domain of MAGI3, a novel membrane-associated guanylate kinase. J Biol Chem. 2000 Jul 14;275(28):21477-85. 10748157 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 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 Lemke JR, Hendrickx R, Geider K, Laube B, Schwake M, Harvey RJ, James VM, Pepler A, Steiner I, Hortnagel K, Neidhardt J, Ruf S, Wolff M, Bartholdi D, Caraballo R, Platzer K, Suls A, De Jonghe P, Biskup S, Weckhuysen S: GRIN2B mutations in West syndrome and intellectual disability with focal epilepsy. Ann Neurol. 2014 Jan;75(1):147-54. doi: 10.1002/ana.24073. Epub 2014 Jan 2. 24272827