Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Basket 0
(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Q12879

- NMDE1_HUMAN

UniProt

Q12879 - NMDE1_HUMAN

Protein

Glutamate receptor ionotropic, NMDA 2A

Gene

GRIN2A

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
    • BLAST
    • Align
    • Format
    • Add to basket
    • History
      Entry version 152 (01 Oct 2014)
      Sequence version 1 (01 Nov 1996)
      Previous versions | rss
    • Help video
    • Feedback
    • Comment

    Functioni

    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.

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Metal bindingi128 – 1281ZincBy similarity
    Metal bindingi283 – 2831ZincBy similarity
    Binding sitei518 – 5181GlutamateBy similarity
    Sitei614 – 6141Functional determinant of NMDA receptorsBy similarity
    Binding sitei731 – 7311Glutamate; via amide nitrogenBy similarity

    GO - Molecular functioni

    1. calcium channel activity Source: Ensembl
    2. extracellular-glutamate-gated ion channel activity Source: RefGenome
    3. N-methyl-D-aspartate selective glutamate receptor activity Source: RefGenome
    4. protein binding Source: UniProtKB
    5. zinc ion binding Source: UniProtKB

    GO - Biological processi

    1. directional locomotion Source: Ensembl
    2. dopamine metabolic process Source: Ensembl
    3. glutamate receptor signaling pathway Source: ProtInc
    4. ionotropic glutamate receptor signaling pathway Source: RefGenome
    5. ion transmembrane transport Source: RefGenome
    6. learning or memory Source: ProtInc
    7. memory Source: Ensembl
    8. negative regulation of protein catabolic process Source: Ensembl
    9. neurogenesis Source: Ensembl
    10. positive regulation of apoptotic process Source: Ensembl
    11. protein localization Source: Ensembl
    12. regulation of excitatory postsynaptic membrane potential Source: Ensembl
    13. regulation of sensory perception of pain Source: Ensembl
    14. regulation of synaptic plasticity Source: Ensembl
    15. response to amphetamine Source: Ensembl
    16. response to drug Source: Ensembl
    17. response to ethanol Source: UniProtKB
    18. response to wounding Source: Ensembl
    19. sensory perception of pain Source: Ensembl
    20. serotonin metabolic process Source: Ensembl
    21. sleep Source: Ensembl
    22. startle response Source: Ensembl
    23. synaptic transmission Source: Reactome
    24. synaptic transmission, glutamatergic Source: RefGenome
    25. transport Source: ProtInc
    26. visual learning Source: Ensembl

    Keywords - Molecular functioni

    Ion channel, Ligand-gated ion channel, Receptor

    Keywords - Biological processi

    Ion transport, Transport

    Keywords - Ligandi

    Calcium, Magnesium, Metal-binding, Zinc

    Enzyme and pathway databases

    ReactomeiREACT_20546. Ras activation uopn Ca2+ infux through NMDA receptor.
    REACT_20594. Unblocking of NMDA receptor, glutamate binding and activation.
    REACT_20642. CREB phosphorylation through the activation of CaMKII.
    SignaLinkiQ12879.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Glutamate receptor ionotropic, NMDA 2A
    Short name:
    GluN2A
    Alternative name(s):
    Glutamate [NMDA] receptor subunit epsilon-1
    N-methyl D-aspartate receptor subtype 2A
    Short name:
    NMDAR2A
    Short name:
    NR2A
    Short name:
    hNR2A
    Gene namesi
    Name:GRIN2A
    Synonyms:NMDAR2A
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 16

    Organism-specific databases

    HGNCiHGNC:4585. GRIN2A.

    Subcellular locationi

    GO - Cellular componenti

    1. cell junction Source: UniProtKB-KW
    2. cell surface Source: BHF-UCL
    3. dendrite Source: RefGenome
    4. endoplasmic reticulum Source: Ensembl
    5. integral component of plasma membrane Source: ProtInc
    6. neuronal postsynaptic density Source: Ensembl
    7. N-methyl-D-aspartate selective glutamate receptor complex Source: UniProtKB
    8. plasma membrane Source: Reactome
    9. postsynaptic membrane Source: RefGenome
    10. presynaptic membrane Source: Ensembl
    11. synaptic vesicle Source: Ensembl

    Keywords - Cellular componenti

    Cell junction, Cell membrane, Membrane, Postsynaptic cell membrane, Synapse

    Pathology & Biotechi

    Involvement in diseasei

    Epilepsy, focal, with speech disorder and with or without mental retardation (FESD) [MIM:245570]: A highly variable neurologic disorder with features ranging from severe early-onset seizures associated with delayed psychomotor development, persistent speech difficulties, and mental retardation to a more benign entity characterized by childhood onset of mild or asymptomatic seizures associated with transient speech difficulties followed by remission of seizures in adolescence and normal psychomotor development. The disorder encompasses several clinical entities, including Landau-Kleffner syndrome, epileptic encephalopathy with continuous spike and wave during slow-wave sleep, autosomal dominant rolandic epilepsy, mental retardation and speech dyspraxia, and benign epilepsy with centrotemporal spikes.5 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti79 – 791P → R in FESD. 1 Publication
    VAR_070345
    Natural varianti184 – 1841I → S in FESD; unknown pathological significance. 1 Publication
    VAR_070346
    Natural varianti231 – 2311C → Y in FESD; unknown pathological significance. 1 Publication
    VAR_070347
    Natural varianti243 – 2431A → V in FESD; results in reduced high-affinity zinc mediated inhibition. 1 Publication
    VAR_070348
    Natural varianti290 – 2901A → V in FESD. 1 Publication
    VAR_070349
    Natural varianti295 – 2951G → S in FESD; unknown pathological significance. 1 Publication
    VAR_070350
    Natural varianti370 – 3701R → W in FESD. 1 Publication
    VAR_070351
    Natural varianti436 – 4361C → R in FESD. 1 Publication
    VAR_070352
    Natural varianti483 – 4831G → R in FESD; unknown pathological significance. 1 Publication
    VAR_070353
    Natural varianti504 – 5041R → W in FESD. 1 Publication
    VAR_070354
    Natural varianti518 – 5181R → H in FESD; affects receptor kinetics. 1 Publication
    VAR_070355
    Natural varianti531 – 5311T → M in FESD; affects receptor kinetics. 1 Publication
    VAR_070356
    Natural varianti547 – 5471Missing in FESD. 1 Publication
    VAR_070357
    Natural varianti548 – 5481A → T in FESD. 1 Publication
    VAR_070358
    Natural varianti552 – 5521P → R in FESD. 1 Publication
    VAR_069382
    Natural varianti615 – 6151N → K in FESD; the mutant receptor has decreased calcium permeability; shows a dominant-negative effect. 1 Publication
    VAR_065899
    Natural varianti649 – 6491L → V in FESD. 1 Publication
    VAR_069383
    Natural varianti652 – 6521F → V in FESD; affects receptor kinetics. 1 Publication
    VAR_070359
    Natural varianti669 – 6691K → N in FESD. 1 Publication
    VAR_070360
    Natural varianti694 – 6941I → T in FESD. 1 Publication
    VAR_070361
    Natural varianti699 – 6991P → S in FESD. 1 Publication
    VAR_070362
    Natural varianti705 – 7051M → V in FESD; unknown pathological significance. 1 Publication
    VAR_070363
    Natural varianti714 – 7141E → K in FESD. 1 Publication
    VAR_070364
    Natural varianti716 – 7161A → T in FESD. 1 Publication
    VAR_070365
    Natural varianti727 – 7271A → T in FESD. 1 Publication
    VAR_070366
    Natural varianti731 – 7311D → N in FESD. 1 Publication
    VAR_070367
    Natural varianti734 – 7341V → L in FESD; unknown pathological significance. 1 Publication
    VAR_070368
    Natural varianti772 – 7721K → E in FESD. 1 Publication
    VAR_070369
    Natural varianti814 – 8141I → T in FESD; unknown pathological significance. 1 Publication
    VAR_070370
    Natural varianti904 – 9041I → F in FESD. 1 Publication
    VAR_070371
    Natural varianti933 – 9331D → N in FESD; unknown pathological significance. 1 Publication
    VAR_070372
    Natural varianti976 – 9761N → S in FESD. 1 Publication
    VAR_070373
    Natural varianti1251 – 12511D → N in FESD. 1 Publication
    VAR_070374
    A chromosomal aberration involving GRIN2A has been found in a family with epilepsy and neurodevelopmental defects. Translocation t(16;17)(p13.2;q11.2).
    GRIN2A somatic mutations have been frequently found in cutaneous malignant melanoma, suggesting that the glutamate signaling pathway may play a role in the pathogenesis of melanoma.1 Publication

    Keywords - Diseasei

    Disease mutation, Epilepsy

    Organism-specific databases

    MIMi245570. phenotype.
    Orphaneti725. Continuous spikes and waves during sleep.
    289266. Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation.
    98818. Landau-Kleffner syndrome.
    1945. Rolandic epilepsy.
    163721. Rolandic epilepsy - speech dyspraxia.
    PharmGKBiPA28979.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 2222Sequence AnalysisAdd
    BLAST
    Chaini23 – 14641442Glutamate receptor ionotropic, NMDA 2APRO_0000011573Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi75 – 751N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi87 ↔ 320By similarity
    Glycosylationi340 – 3401N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi380 – 3801N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi443 – 4431N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi444 – 4441N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi541 – 5411N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Disulfide bond, Glycoprotein

    Proteomic databases

    PaxDbiQ12879.
    PRIDEiQ12879.

    PTM databases

    PhosphoSiteiQ12879.

    Expressioni

    Gene expression databases

    ArrayExpressiQ12879.
    BgeeiQ12879.
    CleanExiHS_GRIN2A.
    GenevestigatoriQ12879.

    Organism-specific databases

    HPAiCAB022725.

    Interactioni

    Subunit structurei

    Forms heteromeric channel of a zeta subunit (GRIN1), a epsilon subunit (GRIN2A, GRIN2B, GRIN2C or GRIN2D) and a third subunit (GRIN3A or GRIN3B). Found in a complex with GRIN1 and GRIN3B. Found in a complex with GRIN1, GRIN3A and PPP2CB. Interacts with PDZ domains of AIP1, INADL and DLG4. Interacts with HIP1 and NETO1 By similarity. Interacts with LRFN2. Interacts with SNX27 (via PDZ domain); the interaction is required for recycling to the plasma membrane when endocytosed and prevent degradation in lysosomes By similarity.By similarity

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    Dlg3Q629365EBI-7249937,EBI-349596From a different organism.
    DLG4P783523EBI-7249937,EBI-80389
    Dlg4P310162EBI-7249937,EBI-375655From a different organism.

    Protein-protein interaction databases

    BioGridi109160. 17 interactions.
    DIPiDIP-40798N.
    IntActiQ12879. 3 interactions.
    MINTiMINT-414776.
    STRINGi9606.ENSP00000332549.

    Structurei

    Secondary structure

    1
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Beta strandi1461 – 14644

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    3NFLX-ray1.91E/F/G/H1449-1464[»]
    ProteinModelPortaliQ12879.
    SMRiQ12879. Positions 31-392, 404-841.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiQ12879.

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini23 – 555533ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini577 – 63357CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini655 – 816162ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini838 – 1464627CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei556 – 57621HelicalSequence AnalysisAdd
    BLAST
    Transmembranei634 – 65421HelicalSequence AnalysisAdd
    BLAST
    Transmembranei817 – 83721HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni511 – 5133Glutamate bindingBy similarity
    Regioni689 – 6902Glutamate bindingBy similarity

    Motif

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Motifi1462 – 14643PDZ-binding

    Sequence similaritiesi

    Keywords - Domaini

    Signal, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG282132.
    HOVERGENiHBG052635.
    InParanoidiQ12879.
    KOiK05209.
    OMAiDYDWHVF.
    OrthoDBiEOG72ZCD1.
    PhylomeDBiQ12879.
    TreeFamiTF314731.

    Family and domain databases

    InterProiIPR001828. ANF_lig-bd_rcpt.
    IPR019594. Glu_rcpt_Glu/Gly-bd.
    IPR001320. Iontro_glu_rcpt.
    IPR001508. NMDA_rcpt.
    IPR018884. NMDAR2_C.
    IPR028082. Peripla_BP_I.
    IPR001638. SBP_bac_3.
    [Graphical view]
    PfamiPF01094. ANF_receptor. 1 hit.
    PF00060. Lig_chan. 1 hit.
    PF10565. NMDAR2_C. 1 hit.
    PF00497. SBP_bac_3. 1 hit.
    [Graphical view]
    PRINTSiPR00177. NMDARECEPTOR.
    SMARTiSM00918. Lig_chan-Glu_bd. 1 hit.
    SM00079. PBPe. 1 hit.
    [Graphical view]
    SUPFAMiSSF53822. SSF53822. 1 hit.

    Sequences (2)i

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q12879-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MGRVGYWTLL VLPALLVWRG PAPSAAAEKG PPALNIAVML GHSHDVTERE     50
    LRTLWGPEQA AGLPLDVNVV ALLMNRTDPK SLITHVCDLM SGARIHGLVF 100
    GDDTDQEAVA QMLDFISSHT FVPILGIHGG ASMIMADKDP TSTFFQFGAS 150
    IQQQATVMLK IMQDYDWHVF SLVTTIFPGY REFISFVKTT VDNSFVGWDM 200
    QNVITLDTSF EDAKTQVQLK KIHSSVILLY CSKDEAVLIL SEARSLGLTG 250
    YDFFWIVPSL VSGNTELIPK EFPSGLISVS YDDWDYSLEA RVRDGIGILT 300
    TAASSMLEKF SYIPEAKASC YGQMERPEVP MHTLHPFMVN VTWDGKDLSF 350
    TEEGYQVHPR LVVIVLNKDR EWEKVGKWEN HTLSLRHAVW PRYKSFSDCE 400
    PDDNHLSIVT LEEAPFVIVE DIDPLTETCV RNTVPCRKFV KINNSTNEGM 450
    NVKKCCKGFC IDILKKLSRT VKFTYDLYLV TNGKHGKKVN NVWNGMIGEV 500
    VYQRAVMAVG SLTINEERSE VVDFSVPFVE TGISVMVSRS NGTVSPSAFL 550
    EPFSASVWVM MFVMLLIVSA IAVFVFEYFS PVGYNRNLAK GKAPHGPSFT 600
    IGKAIWLLWG LVFNNSVPVQ NPKGTTSKIM VSVWAFFAVI FLASYTANLA 650
    AFMIQEEFVD QVTGLSDKKF QRPHDYSPPF RFGTVPNGST ERNIRNNYPY 700
    MHQYMTKFNQ KGVEDALVSL KTGKLDAFIY DAAVLNYKAG RDEGCKLVTI 750
    GSGYIFATTG YGIALQKGSP WKRQIDLALL QFVGDGEMEE LETLWLTGIC 800
    HNEKNEVMSS QLDIDNMAGV FYMLAAAMAL SLITFIWEHL FYWKLRFCFT 850
    GVCSDRPGLL FSISRGIYSC IHGVHIEEKK KSPDFNLTGS QSNMLKLLRS 900
    AKNISSMSNM NSSRMDSPKR AADFIQRGSL IMDMVSDKGN LMYSDNRSFQ 950
    GKESIFGDNM NELQTFVANR QKDNLNNYVF QGQHPLTLNE SNPNTVEVAV 1000
    STESKANSRP RQLWKKSVDS IRQDSLSQNP VSQRDEATAE NRTHSLKSPR 1050
    YLPEEMAHSD ISETSNRATC HREPDNSKNH KTKDNFKRSV ASKYPKDCSE 1100
    VERTYLKTKS SSPRDKIYTI DGEKEPGFHL DPPQFVENVT LPENVDFPDP 1150
    YQDPSENFRK GDSTLPMNRN PLHNEEGLSN NDQYKLYSKH FTLKDKGSPH 1200
    SETSERYRQN STHCRSCLSN MPTYSGHFTM RSPFKCDACL RMGNLYDIDE 1250
    DQMLQETGNP ATGEQVYQQD WAQNNALQLQ KNKLRISRQH SYDNIVDKPR 1300
    ELDLSRPSRS ISLKDRERLL EGNFYGSLFS VPSSKLSGKK SSLFPQGLED 1350
    SKRSKSLLPD HTSDNPFLHS HRDDQRLVIG RCPSDPYKHS LPSQAVNDSY 1400
    LRSSLRSTAS YCSRDSRGHN DVYISEHVMP YAANKNNMYS TPRVLNSCSN 1450
    RRVYKKMPSI ESDV 1464
    Length:1,464
    Mass (Da):165,283
    Last modified:November 1, 1996 - v1
    Checksum:iAF5EDD599EC0B1E3
    GO
    Isoform 2 (identifier: Q12879-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1259-1464: NPATGEQVYQ...KKMPSIESDV → MTNAWLLGDAPRTLTNTRCHPRR

    Show »
    Length:1,281
    Mass (Da):144,431
    Checksum:i7454CF24F5BE8373
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti57 – 571P → L Found in a cutaneous malignant melanoma sample; somatic mutation. 1 Publication
    VAR_067725
    Natural varianti79 – 791P → R in FESD. 1 Publication
    VAR_070345
    Natural varianti183 – 1831F → I Found in a cutaneous malignant melanoma sample; somatic mutation; also found in a patient with benign epilepsy with centrotemporal spike. 2 Publications
    VAR_067726
    Natural varianti184 – 1841I → S in FESD; unknown pathological significance. 1 Publication
    VAR_070346
    Natural varianti231 – 2311C → Y in FESD; unknown pathological significance. 1 Publication
    VAR_070347
    Natural varianti243 – 2431A → V in FESD; results in reduced high-affinity zinc mediated inhibition. 1 Publication
    VAR_070348
    Natural varianti252 – 2521D → N Found in a cutaneous malignant melanoma sample; somatic mutation. 1 Publication
    VAR_067727
    Natural varianti270 – 2701K → E.1 Publication
    VAR_010938
    Natural varianti278 – 2781S → F Found in a cutaneous malignant melanoma sample; somatic mutation. 1 Publication
    VAR_067728
    Natural varianti290 – 2901A → V in FESD. 1 Publication
    VAR_070349
    Natural varianti295 – 2951G → S in FESD; unknown pathological significance. 1 Publication
    VAR_070350
    Natural varianti370 – 3701R → W in FESD. 1 Publication
    VAR_070351
    Natural varianti371 – 3711E → K Found in a cutaneous malignant melanoma sample; somatic mutation. 1 Publication
    VAR_067729
    Natural varianti373 – 3731E → K Found in a cutaneous malignant melanoma sample; somatic mutation. 1 Publication
    VAR_067730
    Natural varianti436 – 4361C → R in FESD. 1 Publication
    VAR_070352
    Natural varianti449 – 4491G → E Found in a cutaneous malignant melanoma sample; somatic mutation. 1 Publication
    VAR_067731
    Natural varianti459 – 4591F → S Found in a cutaneous malignant melanoma sample; somatic mutation. 1 Publication
    VAR_067732
    Natural varianti483 – 4831G → R in FESD; unknown pathological significance. 1 Publication
    VAR_070353
    Natural varianti504 – 5041R → W in FESD. 1 Publication
    VAR_070354
    Natural varianti518 – 5181R → H in FESD; affects receptor kinetics. 1 Publication
    VAR_070355
    Natural varianti531 – 5311T → M in FESD; affects receptor kinetics. 1 Publication
    VAR_070356
    Natural varianti547 – 5471Missing in FESD. 1 Publication
    VAR_070357
    Natural varianti548 – 5481A → T in FESD. 1 Publication
    VAR_070358
    Natural varianti552 – 5521P → R in FESD. 1 Publication
    VAR_069382
    Natural varianti595 – 5951H → R Found in a cutaneous malignant melanoma sample; somatic mutation. 1 Publication
    VAR_067733
    Natural varianti598 – 5981S → F Found in a cutaneous malignant melanoma sample; somatic mutation. 1 Publication
    VAR_067734
    Natural varianti615 – 6151N → K in FESD; the mutant receptor has decreased calcium permeability; shows a dominant-negative effect. 1 Publication
    VAR_065899
    Natural varianti649 – 6491L → V in FESD. 1 Publication
    VAR_069383
    Natural varianti652 – 6521F → V in FESD; affects receptor kinetics. 1 Publication
    VAR_070359
    Natural varianti653 – 6531M → I Found in a cutaneous malignant melanoma sample; somatic mutation. 1 Publication
    VAR_067735
    Natural varianti669 – 6691K → N in FESD. 1 Publication
    VAR_070360
    Natural varianti694 – 6941I → T in FESD. 1 Publication
    VAR_070361
    Natural varianti699 – 6991P → S in FESD. 1 Publication
    VAR_070362
    Natural varianti705 – 7051M → V in FESD; unknown pathological significance. 1 Publication
    VAR_070363
    Natural varianti712 – 7121G → E Found in a cutaneous malignant melanoma sample; somatic mutation. 1 Publication
    VAR_067736
    Natural varianti714 – 7141E → K in FESD. 1 Publication
    VAR_070364
    Natural varianti716 – 7161A → T in FESD. 1 Publication
    VAR_070365
    Natural varianti727 – 7271A → T in FESD. 1 Publication
    VAR_070366
    Natural varianti731 – 7311D → N in FESD. 1 Publication
    VAR_070367
    Natural varianti734 – 7341V → L in FESD; unknown pathological significance. 1 Publication
    VAR_070368
    Natural varianti740 – 7401G → W Found in a cutaneous malignant melanoma sample; somatic mutation. 1 Publication
    VAR_067737
    Natural varianti772 – 7721K → E in FESD. 1 Publication
    VAR_070369
    Natural varianti814 – 8141I → T in FESD; unknown pathological significance. 1 Publication
    VAR_070370
    Natural varianti889 – 8891G → E Found in a cutaneous malignant melanoma sample; somatic mutation. 1 Publication
    VAR_067738
    Natural varianti904 – 9041I → F in FESD. 1 Publication
    VAR_070371
    Natural varianti920 – 9201R → K Found in a cutaneous malignant melanoma sample; somatic mutation. 1 Publication
    VAR_067739
    Natural varianti929 – 9291S → F Found in a cutaneous malignant melanoma sample; somatic mutation. 1 Publication
    VAR_067740
    Natural varianti933 – 9331D → N in FESD; unknown pathological significance. 1 Publication
    VAR_070372
    Natural varianti962 – 9621E → K Found in a cutaneous malignant melanoma sample; somatic mutation. 1 Publication
    VAR_067741
    Natural varianti976 – 9761N → S in FESD. 1 Publication
    VAR_070373
    Natural varianti1073 – 10731E → K Found in a cutaneous malignant melanoma sample; somatic mutation. 1 Publication
    VAR_067742
    Natural varianti1074 – 10741P → L Found in a cutaneous malignant melanoma sample; somatic mutation. 1 Publication
    VAR_067743
    Natural varianti1153 – 11531D → N Found in a cutaneous malignant melanoma sample; somatic mutation. 1 Publication
    VAR_067744
    Natural varianti1175 – 11751E → K Found in a cutaneous malignant melanoma sample; somatic mutation. 1 Publication
    VAR_067745
    Natural varianti1251 – 12511D → N in FESD. 1 Publication
    VAR_070374
    Natural varianti1276 – 12761A → G Found in a cutaneous malignant melanoma sample; somatic mutation; also found in a patient with continuous spike-wave discharges during slow-wave sleep. 2 Publications
    Corresponds to variant rs145063086 [ dbSNP | Ensembl ].
    VAR_067746
    Natural varianti1285 – 12851R → K Found in a cutaneous malignant melanoma sample; somatic mutation. 1 Publication
    VAR_067747
    Natural varianti1318 – 13181R → W Found in a cutaneous malignant melanoma sample; somatic mutation. 1 Publication
    VAR_067748
    Natural varianti1366 – 13661P → L Found in a cutaneous malignant melanoma sample; somatic mutation. 1 Publication
    VAR_067749
    Natural varianti1421 – 14211D → N Found in a cutaneous malignant melanoma sample; somatic mutation. 1 Publication
    VAR_067750
    Natural varianti1425 – 14251S → L Found in a cutaneous malignant melanoma sample; somatic mutation. 1 Publication
    VAR_067751
    Natural varianti1426 – 14261E → K Found in a cutaneous malignant melanoma sample; somatic mutation. 1 Publication
    VAR_067752
    Natural varianti1462 – 14621S → C Found in a cutaneous malignant melanoma sample; somatic mutation. 1 Publication
    VAR_067753

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1259 – 1464206NPATG…IESDV → MTNAWLLGDAPRTLTNTRCH PRR in isoform 2. 1 PublicationVSP_044300Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U09002 mRNA. Translation: AAB60343.1.
    U90277 mRNA. Translation: AAB49992.1.
    AC006531 Genomic DNA. No translation available.
    AC007218 Genomic DNA. No translation available.
    AC022168 Genomic DNA. No translation available.
    AC026423 Genomic DNA. No translation available.
    AC133565 Genomic DNA. No translation available.
    BC117131 mRNA. Translation: AAI17132.1.
    BC143273 mRNA. Translation: AAI43274.1.
    CCDSiCCDS10539.1. [Q12879-1]
    CCDS45407.1. [Q12879-2]
    PIRiS47555.
    RefSeqiNP_000824.1. NM_000833.4. [Q12879-1]
    NP_001127879.1. NM_001134407.2. [Q12879-1]
    NP_001127880.1. NM_001134408.2. [Q12879-2]
    UniGeneiHs.411472.

    Genome annotation databases

    EnsembliENST00000330684; ENSP00000332549; ENSG00000183454. [Q12879-1]
    ENST00000396573; ENSP00000379818; ENSG00000183454. [Q12879-1]
    ENST00000396575; ENSP00000379820; ENSG00000183454. [Q12879-1]
    ENST00000562109; ENSP00000454998; ENSG00000183454. [Q12879-2]
    GeneIDi2903.
    KEGGihsa:2903.
    UCSCiuc002czo.4. human. [Q12879-1]
    uc002czr.4. human. [Q12879-2]

    Polymorphism databases

    DMDMi14285603.

    Keywords - Coding sequence diversityi

    Alternative splicing, Chromosomal rearrangement, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U09002 mRNA. Translation: AAB60343.1 .
    U90277 mRNA. Translation: AAB49992.1 .
    AC006531 Genomic DNA. No translation available.
    AC007218 Genomic DNA. No translation available.
    AC022168 Genomic DNA. No translation available.
    AC026423 Genomic DNA. No translation available.
    AC133565 Genomic DNA. No translation available.
    BC117131 mRNA. Translation: AAI17132.1 .
    BC143273 mRNA. Translation: AAI43274.1 .
    CCDSi CCDS10539.1. [Q12879-1 ]
    CCDS45407.1. [Q12879-2 ]
    PIRi S47555.
    RefSeqi NP_000824.1. NM_000833.4. [Q12879-1 ]
    NP_001127879.1. NM_001134407.2. [Q12879-1 ]
    NP_001127880.1. NM_001134408.2. [Q12879-2 ]
    UniGenei Hs.411472.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    3NFL X-ray 1.91 E/F/G/H 1449-1464 [» ]
    ProteinModelPortali Q12879.
    SMRi Q12879. Positions 31-392, 404-841.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 109160. 17 interactions.
    DIPi DIP-40798N.
    IntActi Q12879. 3 interactions.
    MINTi MINT-414776.
    STRINGi 9606.ENSP00000332549.

    Chemistry

    BindingDBi Q12879.
    ChEMBLi CHEMBL1972.
    DrugBanki DB00949. Felbamate.
    DB00145. Glycine.
    DB00142. L-Glutamic Acid.
    DB00836. Loperamide.
    DB01043. Memantine.
    GuidetoPHARMACOLOGYi 456.

    PTM databases

    PhosphoSitei Q12879.

    Polymorphism databases

    DMDMi 14285603.

    Proteomic databases

    PaxDbi Q12879.
    PRIDEi Q12879.

    Protocols and materials databases

    DNASUi 2903.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000330684 ; ENSP00000332549 ; ENSG00000183454 . [Q12879-1 ]
    ENST00000396573 ; ENSP00000379818 ; ENSG00000183454 . [Q12879-1 ]
    ENST00000396575 ; ENSP00000379820 ; ENSG00000183454 . [Q12879-1 ]
    ENST00000562109 ; ENSP00000454998 ; ENSG00000183454 . [Q12879-2 ]
    GeneIDi 2903.
    KEGGi hsa:2903.
    UCSCi uc002czo.4. human. [Q12879-1 ]
    uc002czr.4. human. [Q12879-2 ]

    Organism-specific databases

    CTDi 2903.
    GeneCardsi GC16M009762.
    HGNCi HGNC:4585. GRIN2A.
    HPAi CAB022725.
    MIMi 138253. gene.
    245570. phenotype.
    neXtProti NX_Q12879.
    Orphaneti 725. Continuous spikes and waves during sleep.
    289266. Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation.
    98818. Landau-Kleffner syndrome.
    1945. Rolandic epilepsy.
    163721. Rolandic epilepsy - speech dyspraxia.
    PharmGKBi PA28979.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG282132.
    HOVERGENi HBG052635.
    InParanoidi Q12879.
    KOi K05209.
    OMAi DYDWHVF.
    OrthoDBi EOG72ZCD1.
    PhylomeDBi Q12879.
    TreeFami TF314731.

    Enzyme and pathway databases

    Reactomei REACT_20546. Ras activation uopn Ca2+ infux through NMDA receptor.
    REACT_20594. Unblocking of NMDA receptor, glutamate binding and activation.
    REACT_20642. CREB phosphorylation through the activation of CaMKII.
    SignaLinki Q12879.

    Miscellaneous databases

    EvolutionaryTracei Q12879.
    GeneWikii GRIN2A.
    GenomeRNAii 2903.
    NextBioi 11495.
    PROi Q12879.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q12879.
    Bgeei Q12879.
    CleanExi HS_GRIN2A.
    Genevestigatori Q12879.

    Family and domain databases

    InterProi IPR001828. ANF_lig-bd_rcpt.
    IPR019594. Glu_rcpt_Glu/Gly-bd.
    IPR001320. Iontro_glu_rcpt.
    IPR001508. NMDA_rcpt.
    IPR018884. NMDAR2_C.
    IPR028082. Peripla_BP_I.
    IPR001638. SBP_bac_3.
    [Graphical view ]
    Pfami PF01094. ANF_receptor. 1 hit.
    PF00060. Lig_chan. 1 hit.
    PF10565. NMDAR2_C. 1 hit.
    PF00497. SBP_bac_3. 1 hit.
    [Graphical view ]
    PRINTSi PR00177. NMDARECEPTOR.
    SMARTi SM00918. Lig_chan-Glu_bd. 1 hit.
    SM00079. PBPe. 1 hit.
    [Graphical view ]
    SUPFAMi SSF53822. SSF53822. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. "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) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT GLU-270.
    2. "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) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
      Tissue: Cerebellum.
    3. "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) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
      Tissue: Brain.
    5. Cited for: CHROMOSOMAL TRANSLOCATION, VARIANT FESD LYS-615, CHARACTERIZATION OF VARIANT FESD LYS-615.
    6. Cited for: PROBABLE INVOLVEMENT IN MELANOMA, VARIANTS LEU-57; ILE-183; ASN-252; PHE-278; LYS-371; LYS-373; GLU-449; SER-459; ARG-595; PHE-598; ILE-653; GLU-712; TRP-740; GLU-889; LYS-920; PHE-929; LYS-962; LYS-1073; LEU-1074; ASN-1153; LYS-1175; GLY-1276; LYS-1285; TRP-1318; LEU-1366; ASN-1421; LEU-1425; LYS-1426 AND CYS-1462.
    7. Cited for: VARIANTS FESD ARG-552 AND VAL-649.
    8. Cited for: VARIANTS FESD SER-184; SER-295; ARG-483; TRP-504; HIS-518; THR-548; VAL-652; ASN-669; THR-694; THR-716; ASN-731; ASN-933 AND ASN-1251, VARIANT GLY-1276, CHARACTERIZATION OF VARIANTS FESD HIS-518 AND VAL-652.
    9. "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) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS FESD ARG-79; TYR-231; VAL-243; VAL-290; TRP-370; ARG-436; SER-547 DEL; SER-699; VAL-705; LYS-714; THR-727; LEU-734; GLU-772; THR-814; PHE-904 AND SER-976, VARIANT ILE-183, CHARACTERIZATION OF VARIANT FESD VAL-243.
    10. Cited for: VARIANT FESD MET-531, CHARACTERIZATION OF VARIANT FESD MET-531.

    Entry informationi

    Entry nameiNMDE1_HUMAN
    AccessioniPrimary (citable) accession number: Q12879
    Secondary accession number(s): O00669, Q17RZ6
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: June 1, 2001
    Last sequence update: November 1, 1996
    Last modified: October 1, 2014
    This is version 152 of the entry and version 1 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    3D-structure, Complete proteome, Reference proteome

    Documents

    1. Human chromosome 16
      Human chromosome 16: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3