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Q12879

- NMDE1_HUMAN

UniProt

Q12879 - NMDE1_HUMAN

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Protein
Glutamate receptor ionotropic, NMDA 2A
Gene
GRIN2A, NMDAR2A
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

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 – 1281Zinc By similarity
Metal bindingi283 – 2831Zinc By similarity
Binding sitei518 – 5181Glutamate By similarity
Sitei614 – 6141Functional determinant of NMDA receptors By similarity
Binding sitei731 – 7311Glutamate; via amide nitrogen By similarity

GO - Molecular functioni

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

GO - Biological processi

  1. directional locomotion Source: Ensembl
  2. dopamine metabolic process Source: Ensembl
  3. glutamate receptor signaling pathway Source: ProtInc
  4. ion transmembrane transport Source: RefGenome
  5. ionotropic glutamate receptor signaling pathway 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
Complete GO annotation...

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

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini23 – 555533Extracellular Reviewed prediction
Add
BLAST
Transmembranei556 – 57621Helical; Reviewed prediction
Add
BLAST
Topological domaini577 – 63357Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei634 – 65421Helical; Reviewed prediction
Add
BLAST
Topological domaini655 – 816162Extracellular Reviewed prediction
Add
BLAST
Transmembranei817 – 83721Helical; Reviewed prediction
Add
BLAST
Topological domaini838 – 1464627Cytoplasmic Reviewed prediction
Add
BLAST

GO - Cellular componenti

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

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.
Note: The disease is caused by mutations affecting the gene represented in this entry.5 Publications
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 – 2222 Reviewed prediction
Add
BLAST
Chaini23 – 14641442Glutamate receptor ionotropic, NMDA 2A
PRO_0000011573Add
BLAST

Amino acid modifications

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

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.

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.
IntActiQ12879. 3 interactions.
MINTiMINT-414776.
STRINGi9606.ENSP00000332549.

Structurei

Secondary structure

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.

Miscellaneous databases

EvolutionaryTraceiQ12879.

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni511 – 5133Glutamate binding By similarity
Regioni689 – 6902Glutamate binding By 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.
VSP_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]
ENST00000404927; ENSP00000385872; ENSG00000183454. [Q12879-2]
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...

Protein-protein interaction databases

BioGridi 109160. 17 interactions.
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 ]
ENST00000404927 ; ENSP00000385872 ; ENSG00000183454 . [Q12879-2 ]
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

« Hide 'large scale' publications
  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: September 3, 2014
This is version 151 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

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