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Protein

Glutamate receptor ionotropic, NMDA 2A

Gene

GRIN2A

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: 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)DescriptionActionsGraphical viewLength
Metal bindingi128ZincBy similarity1
Metal bindingi283ZincBy similarity1
Binding sitei518GlutamateBy similarity1
Sitei614Functional determinant of NMDA receptorsBy similarity1
Binding sitei731Glutamate; via amide nitrogenBy similarity1

GO - Molecular functioni

GO - Biological processi

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

BioCyciZFISH:G66-32350-MONOMER.
ReactomeiR-HSA-438066. Unblocking of NMDA receptor, glutamate binding and activation.
R-HSA-442729. CREB phosphorylation through the activation of CaMKII.
R-HSA-442982. Ras activation uopn Ca2+ infux through NMDA receptor.
R-HSA-5673001. RAF/MAP kinase cascade.
R-HSA-6794361. Interactions of neurexins and neuroligins at synapses.
R-HSA-8849932. SALM protein interactions at the synapses.
SignaLinkiQ12879.
SIGNORiQ12879.

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
Proteomesi
  • UP000005640 Componenti: Chromosome 16

Organism-specific databases

HGNCiHGNC:4585. GRIN2A.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini23 – 555ExtracellularSequence analysisAdd BLAST533
Transmembranei556 – 576HelicalSequence analysisAdd BLAST21
Topological domaini577 – 633CytoplasmicSequence analysisAdd BLAST57
Transmembranei634 – 654HelicalSequence analysisAdd BLAST21
Topological domaini655 – 816ExtracellularSequence analysisAdd BLAST162
Transmembranei817 – 837HelicalSequence analysisAdd BLAST21
Topological domaini838 – 1464CytoplasmicSequence analysisAdd BLAST627

GO - Cellular componenti

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)7 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:245570
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07034579P → R in FESD. 1 Publication1
Natural variantiVAR_070346184I → S in FESD; unknown pathological significance. 1 Publication1
Natural variantiVAR_070347231C → Y in FESD; unknown pathological significance. 1 Publication1
Natural variantiVAR_070348243A → V in FESD; results in reduced high-affinity zinc mediated inhibition. 1 Publication1
Natural variantiVAR_070349290A → V in FESD. 1 PublicationCorresponds to variant rs199528312dbSNPEnsembl.1
Natural variantiVAR_070350295G → S in FESD; unknown pathological significance. 1 PublicationCorresponds to variant rs568484876dbSNPEnsembl.1
Natural variantiVAR_070351370R → W in FESD. 1 PublicationCorresponds to variant rs761168789dbSNPEnsembl.1
Natural variantiVAR_070352436C → R in FESD. 1 Publication1
Natural variantiVAR_070353483G → R in FESD; unknown pathological significance. 1 Publication1
Natural variantiVAR_070354504R → W in FESD. 1 Publication1
Natural variantiVAR_070355518R → H in FESD; affects receptor kinetics. 1 PublicationCorresponds to variant rs397518470dbSNPEnsembl.1
Natural variantiVAR_070356531T → M in FESD; affects receptor kinetics. 1 PublicationCorresponds to variant rs397518468dbSNPEnsembl.1
Natural variantiVAR_070357547Missing in FESD. 1 Publication1
Natural variantiVAR_070358548A → T in FESD. 1 Publication1
Natural variantiVAR_069382552P → R in FESD. 1 PublicationCorresponds to variant rs397518450dbSNPEnsembl.1
Natural variantiVAR_065899615N → K in FESD; the mutant receptor has decreased calcium permeability; shows a dominant-negative effect. 1 PublicationCorresponds to variant rs397518447dbSNPEnsembl.1
Natural variantiVAR_069383649L → V in FESD. 1 PublicationCorresponds to variant rs397514557dbSNPEnsembl.1
Natural variantiVAR_070359652F → V in FESD; affects receptor kinetics. 1 PublicationCorresponds to variant rs397518471dbSNPEnsembl.1
Natural variantiVAR_070360669K → N in FESD. 1 Publication1
Natural variantiVAR_070361694I → T in FESD. 1 Publication1
Natural variantiVAR_070362699P → S in FESD. 1 Publication1
Natural variantiVAR_070363705M → V in FESD; unknown pathological significance. 1 Publication1
Natural variantiVAR_070364714E → K in FESD. 1 Publication1
Natural variantiVAR_070365716A → T in FESD. 1 PublicationCorresponds to variant rs762659685dbSNPEnsembl.1
Natural variantiVAR_070366727A → T in FESD. 1 Publication1
Natural variantiVAR_070367731D → N in FESD. 1 PublicationCorresponds to variant rs796052549dbSNPEnsembl.1
Natural variantiVAR_070368734V → L in FESD; unknown pathological significance. 1 Publication1
Natural variantiVAR_070369772K → E in FESD. 1 Publication1
Natural variantiVAR_072750812L → M in FESD; increase in receptor response to agonists; decrease in the actions of endogenous negative modulators; increase in channel open probability; prolonged deactivation time course. 1 Publication1
Natural variantiVAR_070370814I → T in FESD; unknown pathological significance. 1 PublicationCorresponds to variant rs780654733dbSNPEnsembl.1
Natural variantiVAR_071626817M → V in FESD. 1 PublicationCorresponds to variant rs796052551dbSNPEnsembl.1
Natural variantiVAR_070371904I → F in FESD. 1 Publication1
Natural variantiVAR_070372933D → N in FESD; unknown pathological significance. 1 Publication1
Natural variantiVAR_070373976N → S in FESD. 1 Publication1
Natural variantiVAR_0703741251D → N in FESD. 1 Publication1

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.

Keywords - Diseasei

Disease mutation, Epilepsy

Organism-specific databases

DisGeNETi2903.
MalaCardsiGRIN2A.
MIMi245570. phenotype.
OpenTargetsiENSG00000183454.
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.

Chemistry databases

ChEMBLiCHEMBL1972.
DrugBankiDB00659. Acamprosate.
DB06151. Acetylcysteine.
DB00289. Atomoxetine.
DB00949. Felbamate.
DB00996. Gabapentin.
DB00145. Glycine.
DB01159. Halothane.
DB06738. Ketobemidone.
DB01043. Memantine.
DB04896. Milnacipran.
DB00312. Pentobarbital.
DB00454. Pethidine.
DB01174. Phenobarbital.
DB00418. Secobarbital.
GuidetoPHARMACOLOGYi456.

Polymorphism and mutation databases

BioMutaiGRIN2A.
DMDMi14285603.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 22Sequence analysisAdd BLAST22
ChainiPRO_000001157323 – 1464Glutamate receptor ionotropic, NMDA 2AAdd BLAST1442

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi75N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi87 ↔ 320By similarity
Glycosylationi340N-linked (GlcNAc...)Sequence analysis1
Glycosylationi380N-linked (GlcNAc...)Sequence analysis1
Glycosylationi443N-linked (GlcNAc...)Sequence analysis1
Glycosylationi444N-linked (GlcNAc...)Sequence analysis1
Glycosylationi541N-linked (GlcNAc...)Sequence analysis1
Modified residuei882PhosphoserineBy similarity1
Modified residuei890PhosphoserineBy similarity1
Modified residuei929PhosphoserineBy similarity1
Modified residuei1025PhosphoserineBy similarity1
Modified residuei1059PhosphoserineBy similarity1
Modified residuei1062PhosphoserineBy similarity1
Modified residuei1198PhosphoserineBy similarity1
Modified residuei1291PhosphoserineBy similarity1

Keywords - PTMi

Disulfide bond, Glycoprotein, Phosphoprotein

Proteomic databases

EPDiQ12879.
PaxDbiQ12879.
PeptideAtlasiQ12879.
PRIDEiQ12879.

PTM databases

iPTMnetiQ12879.
PhosphoSitePlusiQ12879.

Expressioni

Gene expression databases

BgeeiENSG00000183454.
CleanExiHS_GRIN2A.
ExpressionAtlasiQ12879. baseline and differential.
GenevisibleiQ12879. HS.

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, PATJ 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. 16 interactors.
DIPiDIP-40798N.
IntActiQ12879. 4 interactors.
MINTiMINT-414776.
STRINGi9606.ENSP00000332549.

Chemistry databases

BindingDBiQ12879.

Structurei

Secondary structure

11464
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi405 – 410Combined sources6
Turni414 – 416Combined sources3
Beta strandi417 – 421Combined sources5
Turni424 – 426Combined sources3
Beta strandi434 – 442Combined sources9
Beta strandi449 – 458Combined sources10
Helixi459 – 471Combined sources13
Beta strandi474 – 479Combined sources6
Beta strandi482 – 485Combined sources4
Beta strandi487 – 489Combined sources3
Beta strandi492 – 494Combined sources3
Helixi495 – 501Combined sources7
Beta strandi506 – 508Combined sources3
Helixi516 – 519Combined sources4
Beta strandi522 – 524Combined sources3
Beta strandi528 – 538Combined sources11
Helixi668 – 671Combined sources4
Helixi673 – 675Combined sources3
Beta strandi676 – 678Combined sources3
Beta strandi686 – 688Combined sources3
Helixi689 – 697Combined sources9
Helixi699 – 705Combined sources7
Helixi706 – 708Combined sources3
Helixi713 – 721Combined sources9
Beta strandi726 – 731Combined sources6
Helixi732 – 740Combined sources9
Helixi743 – 745Combined sources3
Beta strandi747 – 750Combined sources4
Turni751 – 753Combined sources3
Beta strandi756 – 761Combined sources6
Beta strandi764 – 766Combined sources3
Helixi772 – 784Combined sources13
Helixi787 – 795Combined sources9
Beta strandi1461 – 1464Combined sources4

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3NFLX-ray1.91E/F/G/H1449-1464[»]
5H8FX-ray1.81A401-539[»]
A661-802[»]
5H8HX-ray2.23A401-539[»]
A661-802[»]
5H8NX-ray2.50A401-539[»]
A661-802[»]
5H8QX-ray1.90A401-539[»]
A661-802[»]
5I2KX-ray2.86A401-539[»]
A661-802[»]
5I2NX-ray2.12A401-539[»]
A661-802[»]
5KCJX-ray2.09A401-539[»]
A661-802[»]
5KDTX-ray2.44A401-539[»]
A661-802[»]
ProteinModelPortaliQ12879.
SMRiQ12879.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ12879.

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni511 – 513Glutamate bindingBy similarity3
Regioni689 – 690Glutamate bindingBy similarity2

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi1462 – 1464PDZ-binding3

Sequence similaritiesi

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG1053. Eukaryota.
ENOG410XNUR. LUCA.
GeneTreeiENSGT00760000119186.
HOGENOMiHOG000113802.
HOVERGENiHBG052635.
InParanoidiQ12879.
KOiK05209.
OMAiWEYPLET.
OrthoDBiEOG091G09KH.
PhylomeDBiQ12879.
TreeFamiTF314731.

Family and domain databases

InterProiIPR001828. ANF_lig-bd_rcpt.
IPR019594. Glu/Gly-bd.
IPR001508. Iono_rcpt_met.
IPR001320. Iontro_rcpt.
IPR018884. NMDAR2_C.
IPR028082. Peripla_BP_I.
[Graphical view]
PfamiPF01094. ANF_receptor. 1 hit.
PF00060. Lig_chan. 1 hit.
PF10613. Lig_chan-Glu_bd. 1 hit.
PF10565. NMDAR2_C. 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. AlignAdd to basket

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

        10         20         30         40         50
MGRVGYWTLL VLPALLVWRG PAPSAAAEKG PPALNIAVML GHSHDVTERE
60 70 80 90 100
LRTLWGPEQA AGLPLDVNVV ALLMNRTDPK SLITHVCDLM SGARIHGLVF
110 120 130 140 150
GDDTDQEAVA QMLDFISSHT FVPILGIHGG ASMIMADKDP TSTFFQFGAS
160 170 180 190 200
IQQQATVMLK IMQDYDWHVF SLVTTIFPGY REFISFVKTT VDNSFVGWDM
210 220 230 240 250
QNVITLDTSF EDAKTQVQLK KIHSSVILLY CSKDEAVLIL SEARSLGLTG
260 270 280 290 300
YDFFWIVPSL VSGNTELIPK EFPSGLISVS YDDWDYSLEA RVRDGIGILT
310 320 330 340 350
TAASSMLEKF SYIPEAKASC YGQMERPEVP MHTLHPFMVN VTWDGKDLSF
360 370 380 390 400
TEEGYQVHPR LVVIVLNKDR EWEKVGKWEN HTLSLRHAVW PRYKSFSDCE
410 420 430 440 450
PDDNHLSIVT LEEAPFVIVE DIDPLTETCV RNTVPCRKFV KINNSTNEGM
460 470 480 490 500
NVKKCCKGFC IDILKKLSRT VKFTYDLYLV TNGKHGKKVN NVWNGMIGEV
510 520 530 540 550
VYQRAVMAVG SLTINEERSE VVDFSVPFVE TGISVMVSRS NGTVSPSAFL
560 570 580 590 600
EPFSASVWVM MFVMLLIVSA IAVFVFEYFS PVGYNRNLAK GKAPHGPSFT
610 620 630 640 650
IGKAIWLLWG LVFNNSVPVQ NPKGTTSKIM VSVWAFFAVI FLASYTANLA
660 670 680 690 700
AFMIQEEFVD QVTGLSDKKF QRPHDYSPPF RFGTVPNGST ERNIRNNYPY
710 720 730 740 750
MHQYMTKFNQ KGVEDALVSL KTGKLDAFIY DAAVLNYKAG RDEGCKLVTI
760 770 780 790 800
GSGYIFATTG YGIALQKGSP WKRQIDLALL QFVGDGEMEE LETLWLTGIC
810 820 830 840 850
HNEKNEVMSS QLDIDNMAGV FYMLAAAMAL SLITFIWEHL FYWKLRFCFT
860 870 880 890 900
GVCSDRPGLL FSISRGIYSC IHGVHIEEKK KSPDFNLTGS QSNMLKLLRS
910 920 930 940 950
AKNISSMSNM NSSRMDSPKR AADFIQRGSL IMDMVSDKGN LMYSDNRSFQ
960 970 980 990 1000
GKESIFGDNM NELQTFVANR QKDNLNNYVF QGQHPLTLNE SNPNTVEVAV
1010 1020 1030 1040 1050
STESKANSRP RQLWKKSVDS IRQDSLSQNP VSQRDEATAE NRTHSLKSPR
1060 1070 1080 1090 1100
YLPEEMAHSD ISETSNRATC HREPDNSKNH KTKDNFKRSV ASKYPKDCSE
1110 1120 1130 1140 1150
VERTYLKTKS SSPRDKIYTI DGEKEPGFHL DPPQFVENVT LPENVDFPDP
1160 1170 1180 1190 1200
YQDPSENFRK GDSTLPMNRN PLHNEEGLSN NDQYKLYSKH FTLKDKGSPH
1210 1220 1230 1240 1250
SETSERYRQN STHCRSCLSN MPTYSGHFTM RSPFKCDACL RMGNLYDIDE
1260 1270 1280 1290 1300
DQMLQETGNP ATGEQVYQQD WAQNNALQLQ KNKLRISRQH SYDNIVDKPR
1310 1320 1330 1340 1350
ELDLSRPSRS ISLKDRERLL EGNFYGSLFS VPSSKLSGKK SSLFPQGLED
1360 1370 1380 1390 1400
SKRSKSLLPD HTSDNPFLHS HRDDQRLVIG RCPSDPYKHS LPSQAVNDSY
1410 1420 1430 1440 1450
LRSSLRSTAS YCSRDSRGHN DVYISEHVMP YAANKNNMYS TPRVLNSCSN
1460
RRVYKKMPSI ESDV
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)DescriptionActionsGraphical viewLength
Natural variantiVAR_06772557P → L Found in a cutaneous malignant melanoma sample; somatic mutation. 1 Publication1
Natural variantiVAR_07034579P → R in FESD. 1 Publication1
Natural variantiVAR_067726183F → I Found in a cutaneous malignant melanoma sample; somatic mutation; also found in a patient with benign epilepsy with centrotemporal spike. 2 PublicationsCorresponds to variant rs587780353dbSNPEnsembl.1
Natural variantiVAR_070346184I → S in FESD; unknown pathological significance. 1 Publication1
Natural variantiVAR_070347231C → Y in FESD; unknown pathological significance. 1 Publication1
Natural variantiVAR_070348243A → V in FESD; results in reduced high-affinity zinc mediated inhibition. 1 Publication1
Natural variantiVAR_067727252D → N Found in a cutaneous malignant melanoma sample; somatic mutation. 1 Publication1
Natural variantiVAR_010938270K → E.1 Publication1
Natural variantiVAR_067728278S → F Found in a cutaneous malignant melanoma sample; somatic mutation. 1 PublicationCorresponds to variant rs148531310dbSNPEnsembl.1
Natural variantiVAR_070349290A → V in FESD. 1 PublicationCorresponds to variant rs199528312dbSNPEnsembl.1
Natural variantiVAR_070350295G → S in FESD; unknown pathological significance. 1 PublicationCorresponds to variant rs568484876dbSNPEnsembl.1
Natural variantiVAR_071624349S → F Found in a cutaneous malignant melanoma sample. 1 Publication1
Natural variantiVAR_070351370R → W in FESD. 1 PublicationCorresponds to variant rs761168789dbSNPEnsembl.1
Natural variantiVAR_067729371E → K Found in a cutaneous malignant melanoma sample; somatic mutation. 1 PublicationCorresponds to variant rs149344082dbSNPEnsembl.1
Natural variantiVAR_067730373E → K Found in a cutaneous malignant melanoma sample; somatic mutation. 1 Publication1
Natural variantiVAR_070352436C → R in FESD. 1 Publication1
Natural variantiVAR_067731449G → E Found in a cutaneous malignant melanoma sample; somatic mutation. 1 PublicationCorresponds to variant rs139033056dbSNPEnsembl.1
Natural variantiVAR_067732459F → S Found in a cutaneous malignant melanoma sample; somatic mutation. 1 Publication1
Natural variantiVAR_070353483G → R in FESD; unknown pathological significance. 1 Publication1
Natural variantiVAR_070354504R → W in FESD. 1 Publication1
Natural variantiVAR_070355518R → H in FESD; affects receptor kinetics. 1 PublicationCorresponds to variant rs397518470dbSNPEnsembl.1
Natural variantiVAR_070356531T → M in FESD; affects receptor kinetics. 1 PublicationCorresponds to variant rs397518468dbSNPEnsembl.1
Natural variantiVAR_070357547Missing in FESD. 1 Publication1
Natural variantiVAR_070358548A → T in FESD. 1 Publication1
Natural variantiVAR_069382552P → R in FESD. 1 PublicationCorresponds to variant rs397518450dbSNPEnsembl.1
Natural variantiVAR_067733595H → R Found in a cutaneous malignant melanoma sample; somatic mutation. 1 PublicationCorresponds to variant rs551688681dbSNPEnsembl.1
Natural variantiVAR_067734598S → F Found in a cutaneous malignant melanoma sample; somatic mutation. 1 Publication1
Natural variantiVAR_065899615N → K in FESD; the mutant receptor has decreased calcium permeability; shows a dominant-negative effect. 1 PublicationCorresponds to variant rs397518447dbSNPEnsembl.1
Natural variantiVAR_069383649L → V in FESD. 1 PublicationCorresponds to variant rs397514557dbSNPEnsembl.1
Natural variantiVAR_070359652F → V in FESD; affects receptor kinetics. 1 PublicationCorresponds to variant rs397518471dbSNPEnsembl.1
Natural variantiVAR_067735653M → I Found in a cutaneous malignant melanoma sample; somatic mutation. 1 Publication1
Natural variantiVAR_070360669K → N in FESD. 1 Publication1
Natural variantiVAR_070361694I → T in FESD. 1 Publication1
Natural variantiVAR_070362699P → S in FESD. 1 Publication1
Natural variantiVAR_070363705M → V in FESD; unknown pathological significance. 1 Publication1
Natural variantiVAR_067736712G → E Found in a cutaneous malignant melanoma sample; somatic mutation. 1 PublicationCorresponds to variant rs143031592dbSNPEnsembl.1
Natural variantiVAR_070364714E → K in FESD. 1 Publication1
Natural variantiVAR_070365716A → T in FESD. 1 PublicationCorresponds to variant rs762659685dbSNPEnsembl.1
Natural variantiVAR_070366727A → T in FESD. 1 Publication1
Natural variantiVAR_070367731D → N in FESD. 1 PublicationCorresponds to variant rs796052549dbSNPEnsembl.1
Natural variantiVAR_070368734V → L in FESD; unknown pathological significance. 1 Publication1
Natural variantiVAR_067737740G → W Found in a cutaneous malignant melanoma sample; somatic mutation. 1 Publication1
Natural variantiVAR_071625762G → A Found in a cutaneous malignant melanoma sample. 1 Publication1
Natural variantiVAR_070369772K → E in FESD. 1 Publication1
Natural variantiVAR_072750812L → M in FESD; increase in receptor response to agonists; decrease in the actions of endogenous negative modulators; increase in channel open probability; prolonged deactivation time course. 1 Publication1
Natural variantiVAR_070370814I → T in FESD; unknown pathological significance. 1 PublicationCorresponds to variant rs780654733dbSNPEnsembl.1
Natural variantiVAR_071626817M → V in FESD. 1 PublicationCorresponds to variant rs796052551dbSNPEnsembl.1
Natural variantiVAR_067738889G → E Found in a cutaneous malignant melanoma sample; somatic mutation. 2 Publications1
Natural variantiVAR_070371904I → F in FESD. 1 Publication1
Natural variantiVAR_067739920R → K Found in a cutaneous malignant melanoma sample; somatic mutation. 1 Publication1
Natural variantiVAR_067740929S → F Found in a cutaneous malignant melanoma sample; somatic mutation. 1 PublicationCorresponds to variant rs767268773dbSNPEnsembl.1
Natural variantiVAR_070372933D → N in FESD; unknown pathological significance. 1 Publication1
Natural variantiVAR_067741962E → K Found in a cutaneous malignant melanoma sample; somatic mutation. 1 Publication1
Natural variantiVAR_070373976N → S in FESD. 1 Publication1
Natural variantiVAR_0677421073E → K Found in a cutaneous malignant melanoma sample; somatic mutation. 1 Publication1
Natural variantiVAR_0677431074P → L Found in a cutaneous malignant melanoma sample; somatic mutation. 1 Publication1
Natural variantiVAR_0716271132P → L Found in a cutaneous malignant melanoma sample. 1 Publication1
Natural variantiVAR_0716281133P → S Found in a cutaneous malignant melanoma sample. 1 Publication1
Natural variantiVAR_0677441153D → N Found in a cutaneous malignant melanoma sample; somatic mutation. 1 PublicationCorresponds to variant rs267604687dbSNPEnsembl.1
Natural variantiVAR_0677451175E → K Found in a cutaneous malignant melanoma sample; somatic mutation. 1 Publication1
Natural variantiVAR_0703741251D → N in FESD. 1 Publication1
Natural variantiVAR_0677461276A → 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 PublicationsCorresponds to variant rs145063086dbSNPEnsembl.1
Natural variantiVAR_0677471285R → K Found in a cutaneous malignant melanoma sample; somatic mutation. 1 PublicationCorresponds to variant rs367543132dbSNPEnsembl.1
Natural variantiVAR_0677481318R → W Found in a cutaneous malignant melanoma sample; somatic mutation. 1 PublicationCorresponds to variant rs774419037dbSNPEnsembl.1
Natural variantiVAR_0677491366P → L Found in a cutaneous malignant melanoma sample; somatic mutation. 1 Publication1
Natural variantiVAR_0677501421D → N Found in a cutaneous malignant melanoma sample; somatic mutation. 1 Publication1
Natural variantiVAR_0677511425S → L Found in a cutaneous malignant melanoma sample; somatic mutation. 1 Publication1
Natural variantiVAR_0677521426E → K Found in a cutaneous malignant melanoma sample; somatic mutation. 1 PublicationCorresponds to variant rs138415164dbSNPEnsembl.1
Natural variantiVAR_0677531462S → C Found in a cutaneous malignant melanoma sample; somatic mutation. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0443001259 – 1464NPATG…IESDV → MTNAWLLGDAPRTLTNTRCH PRR in isoform 2. 1 PublicationAdd BLAST206

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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]
XP_011520763.1. XM_011522461.2. [Q12879-2]
UniGeneiHs.411472.

Genome annotation databases

EnsembliENST00000330684; ENSP00000332549; ENSG00000183454. [Q12879-1]
ENST00000396573; ENSP00000379818; ENSG00000183454. [Q12879-1]
ENST00000562109; ENSP00000454998; ENSG00000183454. [Q12879-2]
GeneIDi2903.
KEGGihsa:2903.
UCSCiuc002czr.5. human. [Q12879-1]

Keywords - Coding sequence diversityi

Alternative splicing, Chromosomal rearrangement, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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]
XP_011520763.1. XM_011522461.2. [Q12879-2]
UniGeneiHs.411472.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3NFLX-ray1.91E/F/G/H1449-1464[»]
5H8FX-ray1.81A401-539[»]
A661-802[»]
5H8HX-ray2.23A401-539[»]
A661-802[»]
5H8NX-ray2.50A401-539[»]
A661-802[»]
5H8QX-ray1.90A401-539[»]
A661-802[»]
5I2KX-ray2.86A401-539[»]
A661-802[»]
5I2NX-ray2.12A401-539[»]
A661-802[»]
5KCJX-ray2.09A401-539[»]
A661-802[»]
5KDTX-ray2.44A401-539[»]
A661-802[»]
ProteinModelPortaliQ12879.
SMRiQ12879.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi109160. 16 interactors.
DIPiDIP-40798N.
IntActiQ12879. 4 interactors.
MINTiMINT-414776.
STRINGi9606.ENSP00000332549.

Chemistry databases

BindingDBiQ12879.
ChEMBLiCHEMBL1972.
DrugBankiDB00659. Acamprosate.
DB06151. Acetylcysteine.
DB00289. Atomoxetine.
DB00949. Felbamate.
DB00996. Gabapentin.
DB00145. Glycine.
DB01159. Halothane.
DB06738. Ketobemidone.
DB01043. Memantine.
DB04896. Milnacipran.
DB00312. Pentobarbital.
DB00454. Pethidine.
DB01174. Phenobarbital.
DB00418. Secobarbital.
GuidetoPHARMACOLOGYi456.

PTM databases

iPTMnetiQ12879.
PhosphoSitePlusiQ12879.

Polymorphism and mutation databases

BioMutaiGRIN2A.
DMDMi14285603.

Proteomic databases

EPDiQ12879.
PaxDbiQ12879.
PeptideAtlasiQ12879.
PRIDEiQ12879.

Protocols and materials databases

DNASUi2903.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000330684; ENSP00000332549; ENSG00000183454. [Q12879-1]
ENST00000396573; ENSP00000379818; ENSG00000183454. [Q12879-1]
ENST00000562109; ENSP00000454998; ENSG00000183454. [Q12879-2]
GeneIDi2903.
KEGGihsa:2903.
UCSCiuc002czr.5. human. [Q12879-1]

Organism-specific databases

CTDi2903.
DisGeNETi2903.
GeneCardsiGRIN2A.
HGNCiHGNC:4585. GRIN2A.
HPAiCAB022725.
MalaCardsiGRIN2A.
MIMi138253. gene.
245570. phenotype.
neXtProtiNX_Q12879.
OpenTargetsiENSG00000183454.
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.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1053. Eukaryota.
ENOG410XNUR. LUCA.
GeneTreeiENSGT00760000119186.
HOGENOMiHOG000113802.
HOVERGENiHBG052635.
InParanoidiQ12879.
KOiK05209.
OMAiWEYPLET.
OrthoDBiEOG091G09KH.
PhylomeDBiQ12879.
TreeFamiTF314731.

Enzyme and pathway databases

BioCyciZFISH:G66-32350-MONOMER.
ReactomeiR-HSA-438066. Unblocking of NMDA receptor, glutamate binding and activation.
R-HSA-442729. CREB phosphorylation through the activation of CaMKII.
R-HSA-442982. Ras activation uopn Ca2+ infux through NMDA receptor.
R-HSA-5673001. RAF/MAP kinase cascade.
R-HSA-6794361. Interactions of neurexins and neuroligins at synapses.
R-HSA-8849932. SALM protein interactions at the synapses.
SignaLinkiQ12879.
SIGNORiQ12879.

Miscellaneous databases

ChiTaRSiGRIN2A. human.
EvolutionaryTraceiQ12879.
GeneWikiiGRIN2A.
GenomeRNAii2903.
PROiQ12879.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000183454.
CleanExiHS_GRIN2A.
ExpressionAtlasiQ12879. baseline and differential.
GenevisibleiQ12879. HS.

Family and domain databases

InterProiIPR001828. ANF_lig-bd_rcpt.
IPR019594. Glu/Gly-bd.
IPR001508. Iono_rcpt_met.
IPR001320. Iontro_rcpt.
IPR018884. NMDAR2_C.
IPR028082. Peripla_BP_I.
[Graphical view]
PfamiPF01094. ANF_receptor. 1 hit.
PF00060. Lig_chan. 1 hit.
PF10613. Lig_chan-Glu_bd. 1 hit.
PF10565. NMDAR2_C. 1 hit.
[Graphical view]
PRINTSiPR00177. NMDARECEPTOR.
SMARTiSM00918. Lig_chan-Glu_bd. 1 hit.
SM00079. PBPe. 1 hit.
[Graphical view]
SUPFAMiSSF53822. SSF53822. 1 hit.
ProtoNetiSearch...

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: November 2, 2016
This is version 174 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.