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Q12879 (NMDE1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 150. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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 names
Name:GRIN2A
Synonyms:NMDAR2A
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1464 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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.

Subunit structure

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.

Subcellular location

Cell membrane; Multi-pass membrane protein. Cell junctionsynapsepostsynaptic cell membrane; Multi-pass membrane protein.

Involvement in disease

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. Ref.5 Ref.7 Ref.8 Ref.9 Ref.10

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 (Ref.6).

Sequence similarities

Belongs to the glutamate-gated ion channel (TC 1.A.10.1) family. NR2A/GRIN2A subfamily. [View classification]

Ontologies

Keywords
   Biological processIon transport
Transport
   Cellular componentCell junction
Cell membrane
Membrane
Postsynaptic cell membrane
Synapse
   Coding sequence diversityAlternative splicing
Chromosomal rearrangement
Polymorphism
   DiseaseDisease mutation
Epilepsy
   DomainSignal
Transmembrane
Transmembrane helix
   LigandCalcium
Magnesium
Metal-binding
Zinc
   Molecular functionIon channel
Ligand-gated ion channel
Receptor
   PTMDisulfide bond
Glycoprotein
   Technical term3D-structure
Complete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processdirectional locomotion

Inferred from electronic annotation. Source: Ensembl

dopamine metabolic process

Inferred from electronic annotation. Source: Ensembl

glutamate receptor signaling pathway

Traceable author statement Ref.2. Source: ProtInc

ion transmembrane transport

Inferred from Biological aspect of Ancestor. Source: RefGenome

ionotropic glutamate receptor signaling pathway

Inferred from Biological aspect of Ancestor. Source: RefGenome

learning or memory

Traceable author statement PubMed 7816096. Source: ProtInc

memory

Inferred from electronic annotation. Source: Ensembl

negative regulation of protein catabolic process

Inferred from electronic annotation. Source: Ensembl

neurogenesis

Inferred from electronic annotation. Source: Ensembl

positive regulation of apoptotic process

Inferred from electronic annotation. Source: Ensembl

protein localization

Inferred from electronic annotation. Source: Ensembl

regulation of excitatory postsynaptic membrane potential

Inferred from electronic annotation. Source: Ensembl

regulation of sensory perception of pain

Inferred from electronic annotation. Source: Ensembl

regulation of synaptic plasticity

Inferred from electronic annotation. Source: Ensembl

response to amphetamine

Inferred from electronic annotation. Source: Ensembl

response to drug

Inferred from electronic annotation. Source: Ensembl

response to ethanol

Inferred from direct assay PubMed 18445116. Source: UniProtKB

response to wounding

Inferred from electronic annotation. Source: Ensembl

sensory perception of pain

Inferred from electronic annotation. Source: Ensembl

serotonin metabolic process

Inferred from electronic annotation. Source: Ensembl

sleep

Inferred from electronic annotation. Source: Ensembl

startle response

Inferred from electronic annotation. Source: Ensembl

synaptic transmission

Traceable author statement. Source: Reactome

synaptic transmission, glutamatergic

Inferred from Biological aspect of Ancestor. Source: RefGenome

transport

Traceable author statement Ref.2. Source: ProtInc

visual learning

Inferred from electronic annotation. Source: Ensembl

   Cellular_componentN-methyl-D-aspartate selective glutamate receptor complex

Inferred from direct assay PubMed 10480938. Source: UniProtKB

cell junction

Inferred from electronic annotation. Source: UniProtKB-KW

cell surface

Inferred from sequence or structural similarity. Source: BHF-UCL

dendrite

Inferred from Biological aspect of Ancestor. Source: RefGenome

endoplasmic reticulum

Inferred from electronic annotation. Source: Ensembl

integral component of plasma membrane

Traceable author statement Ref.2. Source: ProtInc

neuronal postsynaptic density

Inferred from electronic annotation. Source: Ensembl

plasma membrane

Traceable author statement. Source: Reactome

postsynaptic membrane

Inferred from Biological aspect of Ancestor. Source: RefGenome

presynaptic membrane

Inferred from electronic annotation. Source: Ensembl

synaptic vesicle

Inferred from electronic annotation. Source: Ensembl

   Molecular_functionN-methyl-D-aspartate selective glutamate receptor activity

Inferred from Biological aspect of Ancestor. Source: RefGenome

calcium channel activity

Inferred from electronic annotation. Source: Ensembl

extracellular-glutamate-gated ion channel activity

Inferred from Biological aspect of Ancestor. Source: RefGenome

protein binding

Inferred from physical interaction PubMed 17997397. Source: UniProtKB

zinc ion binding

Inferred from sequence or structural similarity. Source: UniProtKB

Complete GO annotation...

Binary interactions

With

Entry

#Exp.

IntAct

Notes

Dlg3Q629365EBI-7249937,EBI-349596From a different organism.
DLG4P783523EBI-7249937,EBI-80389
Dlg4P310162EBI-7249937,EBI-375655From a different organism.

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q12879-1)

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.
Isoform 2 (identifier: Q12879-2)

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 2222 Potential
Chain23 – 14641442Glutamate receptor ionotropic, NMDA 2A
PRO_0000011573

Regions

Topological domain23 – 555533Extracellular Potential
Transmembrane556 – 57621Helical; Potential
Topological domain577 – 63357Cytoplasmic Potential
Transmembrane634 – 65421Helical; Potential
Topological domain655 – 816162Extracellular Potential
Transmembrane817 – 83721Helical; Potential
Topological domain838 – 1464627Cytoplasmic Potential
Region511 – 5133Glutamate binding By similarity
Region689 – 6902Glutamate binding By similarity
Motif1462 – 14643PDZ-binding

Sites

Metal binding1281Zinc By similarity
Metal binding2831Zinc By similarity
Binding site5181Glutamate By similarity
Binding site7311Glutamate; via amide nitrogen By similarity
Site6141Functional determinant of NMDA receptors By similarity

Amino acid modifications

Glycosylation751N-linked (GlcNAc...) Potential
Glycosylation3401N-linked (GlcNAc...) Potential
Glycosylation3801N-linked (GlcNAc...) Potential
Glycosylation4431N-linked (GlcNAc...) Potential
Glycosylation4441N-linked (GlcNAc...) Potential
Glycosylation5411N-linked (GlcNAc...) Potential
Disulfide bond87 ↔ 320 By similarity

Natural variations

Alternative sequence1259 – 1464206NPATG…IESDV → MTNAWLLGDAPRTLTNTRCH PRR in isoform 2.
VSP_044300
Natural variant571P → L Found in a cutaneous malignant melanoma sample; somatic mutation. Ref.6
VAR_067725
Natural variant791P → R in FESD. Ref.9
VAR_070345
Natural variant1831F → I Found in a cutaneous malignant melanoma sample; somatic mutation; also found in a patient with benign epilepsy with centrotemporal spike. Ref.6 Ref.9
VAR_067726
Natural variant1841I → S in FESD; unknown pathological significance. Ref.8
VAR_070346
Natural variant2311C → Y in FESD; unknown pathological significance. Ref.9
VAR_070347
Natural variant2431A → V in FESD; results in reduced high-affinity zinc mediated inhibition. Ref.9
VAR_070348
Natural variant2521D → N Found in a cutaneous malignant melanoma sample; somatic mutation. Ref.6
VAR_067727
Natural variant2701K → E. Ref.1
VAR_010938
Natural variant2781S → F Found in a cutaneous malignant melanoma sample; somatic mutation. Ref.6
VAR_067728
Natural variant2901A → V in FESD. Ref.9
VAR_070349
Natural variant2951G → S in FESD; unknown pathological significance. Ref.8
VAR_070350
Natural variant3701R → W in FESD. Ref.9
VAR_070351
Natural variant3711E → K Found in a cutaneous malignant melanoma sample; somatic mutation. Ref.6
VAR_067729
Natural variant3731E → K Found in a cutaneous malignant melanoma sample; somatic mutation. Ref.6
VAR_067730
Natural variant4361C → R in FESD. Ref.9
VAR_070352
Natural variant4491G → E Found in a cutaneous malignant melanoma sample; somatic mutation. Ref.6
VAR_067731
Natural variant4591F → S Found in a cutaneous malignant melanoma sample; somatic mutation. Ref.6
VAR_067732
Natural variant4831G → R in FESD; unknown pathological significance. Ref.8
VAR_070353
Natural variant5041R → W in FESD. Ref.8
VAR_070354
Natural variant5181R → H in FESD; affects receptor kinetics. Ref.8
VAR_070355
Natural variant5311T → M in FESD; affects receptor kinetics. Ref.10
VAR_070356
Natural variant5471Missing in FESD. Ref.9
VAR_070357
Natural variant5481A → T in FESD. Ref.8
VAR_070358
Natural variant5521P → R in FESD. Ref.7
VAR_069382
Natural variant5951H → R Found in a cutaneous malignant melanoma sample; somatic mutation. Ref.6
VAR_067733
Natural variant5981S → F Found in a cutaneous malignant melanoma sample; somatic mutation. Ref.6
VAR_067734
Natural variant6151N → K in FESD; the mutant receptor has decreased calcium permeability; shows a dominant-negative effect. Ref.5
VAR_065899
Natural variant6491L → V in FESD. Ref.7
VAR_069383
Natural variant6521F → V in FESD; affects receptor kinetics. Ref.8
VAR_070359
Natural variant6531M → I Found in a cutaneous malignant melanoma sample; somatic mutation. Ref.6
VAR_067735
Natural variant6691K → N in FESD. Ref.8
VAR_070360
Natural variant6941I → T in FESD. Ref.8
VAR_070361
Natural variant6991P → S in FESD. Ref.9
VAR_070362
Natural variant7051M → V in FESD; unknown pathological significance. Ref.9
VAR_070363
Natural variant7121G → E Found in a cutaneous malignant melanoma sample; somatic mutation. Ref.6
VAR_067736
Natural variant7141E → K in FESD. Ref.9
VAR_070364
Natural variant7161A → T in FESD. Ref.8
VAR_070365
Natural variant7271A → T in FESD. Ref.9
VAR_070366
Natural variant7311D → N in FESD. Ref.8
VAR_070367
Natural variant7341V → L in FESD; unknown pathological significance. Ref.9
VAR_070368
Natural variant7401G → W Found in a cutaneous malignant melanoma sample; somatic mutation. Ref.6
VAR_067737
Natural variant7721K → E in FESD. Ref.9
VAR_070369
Natural variant8141I → T in FESD; unknown pathological significance. Ref.9
VAR_070370
Natural variant8891G → E Found in a cutaneous malignant melanoma sample; somatic mutation. Ref.6
VAR_067738
Natural variant9041I → F in FESD. Ref.9
VAR_070371
Natural variant9201R → K Found in a cutaneous malignant melanoma sample; somatic mutation. Ref.6
VAR_067739
Natural variant9291S → F Found in a cutaneous malignant melanoma sample; somatic mutation. Ref.6
VAR_067740
Natural variant9331D → N in FESD; unknown pathological significance. Ref.8
VAR_070372
Natural variant9621E → K Found in a cutaneous malignant melanoma sample; somatic mutation. Ref.6
VAR_067741
Natural variant9761N → S in FESD. Ref.9
VAR_070373
Natural variant10731E → K Found in a cutaneous malignant melanoma sample; somatic mutation. Ref.6
VAR_067742
Natural variant10741P → L Found in a cutaneous malignant melanoma sample; somatic mutation. Ref.6
VAR_067743
Natural variant11531D → N Found in a cutaneous malignant melanoma sample; somatic mutation. Ref.6
VAR_067744
Natural variant11751E → K Found in a cutaneous malignant melanoma sample; somatic mutation. Ref.6
VAR_067745
Natural variant12511D → N in FESD. Ref.8
VAR_070374
Natural variant12761A → G Found in a cutaneous malignant melanoma sample; somatic mutation; also found in a patient with continuous spike-wave discharges during slow-wave sleep. Ref.6 Ref.8
Corresponds to variant rs145063086 [ dbSNP | Ensembl ].
VAR_067746
Natural variant12851R → K Found in a cutaneous malignant melanoma sample; somatic mutation. Ref.6
VAR_067747
Natural variant13181R → W Found in a cutaneous malignant melanoma sample; somatic mutation. Ref.6
VAR_067748
Natural variant13661P → L Found in a cutaneous malignant melanoma sample; somatic mutation. Ref.6
VAR_067749
Natural variant14211D → N Found in a cutaneous malignant melanoma sample; somatic mutation. Ref.6
VAR_067750
Natural variant14251S → L Found in a cutaneous malignant melanoma sample; somatic mutation. Ref.6
VAR_067751
Natural variant14261E → K Found in a cutaneous malignant melanoma sample; somatic mutation. Ref.6
VAR_067752
Natural variant14621S → C Found in a cutaneous malignant melanoma sample; somatic mutation. Ref.6
VAR_067753

Secondary structure

.. 1464
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified November 1, 1996. Version 1.
Checksum: AF5EDD599EC0B1E3

FASTA1,464165,283
        10         20         30         40         50         60 
MGRVGYWTLL VLPALLVWRG PAPSAAAEKG PPALNIAVML GHSHDVTERE LRTLWGPEQA 

        70         80         90        100        110        120 
AGLPLDVNVV ALLMNRTDPK SLITHVCDLM SGARIHGLVF GDDTDQEAVA QMLDFISSHT 

       130        140        150        160        170        180 
FVPILGIHGG ASMIMADKDP TSTFFQFGAS IQQQATVMLK IMQDYDWHVF SLVTTIFPGY 

       190        200        210        220        230        240 
REFISFVKTT VDNSFVGWDM QNVITLDTSF EDAKTQVQLK KIHSSVILLY CSKDEAVLIL 

       250        260        270        280        290        300 
SEARSLGLTG YDFFWIVPSL VSGNTELIPK EFPSGLISVS YDDWDYSLEA RVRDGIGILT 

       310        320        330        340        350        360 
TAASSMLEKF SYIPEAKASC YGQMERPEVP MHTLHPFMVN VTWDGKDLSF TEEGYQVHPR 

       370        380        390        400        410        420 
LVVIVLNKDR EWEKVGKWEN HTLSLRHAVW PRYKSFSDCE PDDNHLSIVT LEEAPFVIVE 

       430        440        450        460        470        480 
DIDPLTETCV RNTVPCRKFV KINNSTNEGM NVKKCCKGFC IDILKKLSRT VKFTYDLYLV 

       490        500        510        520        530        540 
TNGKHGKKVN NVWNGMIGEV VYQRAVMAVG SLTINEERSE VVDFSVPFVE TGISVMVSRS 

       550        560        570        580        590        600 
NGTVSPSAFL EPFSASVWVM MFVMLLIVSA IAVFVFEYFS PVGYNRNLAK GKAPHGPSFT 

       610        620        630        640        650        660 
IGKAIWLLWG LVFNNSVPVQ NPKGTTSKIM VSVWAFFAVI FLASYTANLA AFMIQEEFVD 

       670        680        690        700        710        720 
QVTGLSDKKF QRPHDYSPPF RFGTVPNGST ERNIRNNYPY MHQYMTKFNQ KGVEDALVSL 

       730        740        750        760        770        780 
KTGKLDAFIY DAAVLNYKAG RDEGCKLVTI GSGYIFATTG YGIALQKGSP WKRQIDLALL 

       790        800        810        820        830        840 
QFVGDGEMEE LETLWLTGIC HNEKNEVMSS QLDIDNMAGV FYMLAAAMAL SLITFIWEHL 

       850        860        870        880        890        900 
FYWKLRFCFT GVCSDRPGLL FSISRGIYSC IHGVHIEEKK KSPDFNLTGS QSNMLKLLRS 

       910        920        930        940        950        960 
AKNISSMSNM NSSRMDSPKR AADFIQRGSL IMDMVSDKGN LMYSDNRSFQ GKESIFGDNM 

       970        980        990       1000       1010       1020 
NELQTFVANR QKDNLNNYVF QGQHPLTLNE SNPNTVEVAV STESKANSRP RQLWKKSVDS 

      1030       1040       1050       1060       1070       1080 
IRQDSLSQNP VSQRDEATAE NRTHSLKSPR YLPEEMAHSD ISETSNRATC HREPDNSKNH 

      1090       1100       1110       1120       1130       1140 
KTKDNFKRSV ASKYPKDCSE VERTYLKTKS SSPRDKIYTI DGEKEPGFHL DPPQFVENVT 

      1150       1160       1170       1180       1190       1200 
LPENVDFPDP YQDPSENFRK GDSTLPMNRN PLHNEEGLSN NDQYKLYSKH FTLKDKGSPH 

      1210       1220       1230       1240       1250       1260 
SETSERYRQN STHCRSCLSN MPTYSGHFTM RSPFKCDACL RMGNLYDIDE DQMLQETGNP 

      1270       1280       1290       1300       1310       1320 
ATGEQVYQQD WAQNNALQLQ KNKLRISRQH SYDNIVDKPR ELDLSRPSRS ISLKDRERLL 

      1330       1340       1350       1360       1370       1380 
EGNFYGSLFS VPSSKLSGKK SSLFPQGLED SKRSKSLLPD HTSDNPFLHS HRDDQRLVIG 

      1390       1400       1410       1420       1430       1440 
RCPSDPYKHS LPSQAVNDSY LRSSLRSTAS YCSRDSRGHN DVYISEHVMP YAANKNNMYS 

      1450       1460 
TPRVLNSCSN RRVYKKMPSI ESDV 

« Hide

Isoform 2 [UniParc].

Checksum: 7454CF24F5BE8373
Show »

FASTA1,281144,431

References

« Hide 'large scale' references
[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. expand/collapse author list , 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]"Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes."
Endele S., Rosenberger G., Geider K., Popp B., Tamer C., Stefanova I., Milh M., Kortum F., Fritsch A., Pientka F.K., Hellenbroich Y., Kalscheuer V.M., Kohlhase J., Moog U., Rappold G., Rauch A., Ropers H.H., von Spiczak S. expand/collapse author list , Tonnies H., Villeneuve N., Villard L., Zabel B., Zenker M., Laube B., Reis A., Wieczorek D., Van Maldergem L., Kutsche K.
Nat. Genet. 42:1021-1026(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: CHROMOSOMAL TRANSLOCATION, VARIANT FESD LYS-615, CHARACTERIZATION OF VARIANT FESD LYS-615.
[6]"Exome sequencing identifies GRIN2A as frequently mutated in melanoma."
Wei X., Walia V., Lin J.C., Teer J.K., Prickett T.D., Gartner J., Davis S., Stemke-Hale K., Davies M.A., Gershenwald J.E., Robinson W., Robinson S., Rosenberg S.A., Samuels Y.
Nat. Genet. 43:442-446(2011) [PubMed] [Europe PMC] [Abstract]
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]"Diagnostic exome sequencing in persons with severe intellectual disability."
de Ligt J., Willemsen M.H., van Bon B.W., Kleefstra T., Yntema H.G., Kroes T., Vulto-van Silfhout A.T., Koolen D.A., de Vries P., Gilissen C., del Rosario M., Hoischen A., Scheffer H., de Vries B.B., Brunner H.G., Veltman J.A., Vissers L.E.
N. Engl. J. Med. 367:1921-1929(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS FESD ARG-552 AND VAL-649.
[8]"GRIN2A mutations in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech and language dysfunction."
Lesca G., Rudolf G., Bruneau N., Lozovaya N., Labalme A., Boutry-Kryza N., Salmi M., Tsintsadze T., Addis L., Motte J., Wright S., Tsintsadze V., Michel A., Doummar D., Lascelles K., Strug L., Waters P., de Bellescize J. expand/collapse author list , Vrielynck P., de Saint Martin A., Ville D., Ryvlin P., Arzimanoglou A., Hirsch E., Vincent A., Pal D., Burnashev N., Sanlaville D., Szepetowski P.
Nat. Genet. 45:1061-1066(2013) [PubMed] [Europe PMC] [Abstract]
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. expand/collapse author list , 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]"GRIN2A mutations cause epilepsy-aphasia spectrum disorders."
Carvill G.L., Regan B.M., Yendle S.C., O'Roak B.J., Lozovaya N., Bruneau N., Burnashev N., Khan A., Cook J., Geraghty E., Sadleir L.G., Turner S.J., Tsai M.H., Webster R., Ouvrier R., Damiano J.A., Berkovic S.F., Shendure J. expand/collapse author list , Hildebrand M.S., Szepetowski P., Scheffer I.E., Mefford H.C.
Nat. Genet. 45:1073-1076(2013) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT FESD MET-531, CHARACTERIZATION OF VARIANT FESD MET-531.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS10539.1. [Q12879-1]
CCDS45407.1. [Q12879-2]
PIRS47555.
RefSeqNP_000824.1. NM_000833.4. [Q12879-1]
NP_001127879.1. NM_001134407.2. [Q12879-1]
NP_001127880.1. NM_001134408.2. [Q12879-2]
UniGeneHs.411472.

3D structure databases

PDBe
RCSB-PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
3NFLX-ray1.91E/F/G/H1449-1464[»]
ProteinModelPortalQ12879.
SMRQ12879. Positions 31-392, 404-841.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid109160. 17 interactions.
IntActQ12879. 3 interactions.
MINTMINT-414776.
STRING9606.ENSP00000332549.

Chemistry

BindingDBQ12879.
ChEMBLCHEMBL1972.
DrugBankDB00949. Felbamate.
DB00145. Glycine.
DB00142. L-Glutamic Acid.
DB00836. Loperamide.
DB01043. Memantine.
GuidetoPHARMACOLOGY456.

PTM databases

PhosphoSiteQ12879.

Polymorphism databases

DMDM14285603.

Proteomic databases

PaxDbQ12879.
PRIDEQ12879.

Protocols and materials databases

DNASU2903.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000330684; ENSP00000332549; ENSG00000183454. [Q12879-1]
ENST00000396573; ENSP00000379818; ENSG00000183454. [Q12879-1]
ENST00000396575; ENSP00000379820; ENSG00000183454. [Q12879-1]
ENST00000404927; ENSP00000385872; ENSG00000183454. [Q12879-2]
ENST00000562109; ENSP00000454998; ENSG00000183454. [Q12879-2]
GeneID2903.
KEGGhsa:2903.
UCSCuc002czo.4. human. [Q12879-1]
uc002czr.4. human. [Q12879-2]

Organism-specific databases

CTD2903.
GeneCardsGC16M009762.
HGNCHGNC:4585. GRIN2A.
HPACAB022725.
MIM138253. gene.
245570. phenotype.
neXtProtNX_Q12879.
Orphanet725. 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.
PharmGKBPA28979.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG282132.
HOVERGENHBG052635.
InParanoidQ12879.
KOK05209.
OMADYDWHVF.
OrthoDBEOG72ZCD1.
PhylomeDBQ12879.
TreeFamTF314731.

Enzyme and pathway databases

ReactomeREACT_13685. Neuronal System.
SignaLinkQ12879.

Gene expression databases

ArrayExpressQ12879.
BgeeQ12879.
CleanExHS_GRIN2A.
GenevestigatorQ12879.

Family and domain databases

InterProIPR001828. 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]
PfamPF01094. ANF_receptor. 1 hit.
PF00060. Lig_chan. 1 hit.
PF10565. NMDAR2_C. 1 hit.
PF00497. SBP_bac_3. 1 hit.
[Graphical view]
PRINTSPR00177. NMDARECEPTOR.
SMARTSM00918. Lig_chan-Glu_bd. 1 hit.
SM00079. PBPe. 1 hit.
[Graphical view]
SUPFAMSSF53822. SSF53822. 1 hit.
ProtoNetSearch...

Other

EvolutionaryTraceQ12879.
GeneWikiGRIN2A.
GenomeRNAi2903.
NextBio11495.
PROQ12879.
SOURCESearch...

Entry information

Entry nameNMDE1_HUMAN
AccessionPrimary (citable) accession number: Q12879
Secondary accession number(s): O00669, Q17RZ6
Entry history
Integrated into UniProtKB/Swiss-Prot: June 1, 2001
Last sequence update: November 1, 1996
Last modified: July 9, 2014
This is version 150 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 16

Human chromosome 16: entries, gene names and cross-references to MIM