UniProtKB - Q12879 (NMDE1_HUMAN)
Glutamate receptor ionotropic, NMDA 2A
GRIN2A
Functioni
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Metal bindingi | 44 | Zinc; via tele nitrogenBy similarity | 1 | |
Metal bindingi | 128 | Zinc; via tele nitrogenBy similarity | 1 | |
Metal bindingi | 266 | ZincBy similarity | 1 | |
Metal bindingi | 282 | ZincBy similarity | 1 | |
Binding sitei | 518 | GlutamateCombined sources3 Publications | 1 | |
Sitei | 614 | Functional determinant of NMDA receptorsBy similarity | 1 |
GO - Molecular functioni
- amyloid-beta binding Source: ARUK-UCL
- glutamate-gated calcium ion channel activity Source: UniProtKB
- glutamate receptor activity Source: GO_Central
- NMDA glutamate receptor activity Source: UniProtKB
- transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential Source: GO_Central
- zinc ion binding Source: UniProtKB
GO - Biological processi
- activation of cysteine-type endopeptidase activity Source: ARUK-UCL
- brain development Source: ARUK-UCL
- calcium ion transmembrane import into cytosol Source: UniProtKB
- chemical synaptic transmission Source: ProtInc
- directional locomotion Source: Ensembl
- dopamine metabolic process Source: Ensembl
- excitatory chemical synaptic transmission Source: ARUK-UCL
- excitatory postsynaptic potential Source: GO_Central
- glutamate receptor signaling pathway Source: ProtInc
- learning or memory Source: ProtInc
- long-term synaptic potentiation Source: GO_Central
- memory Source: Ensembl
- modulation of chemical synaptic transmission Source: GO_Central
- negative regulation of protein catabolic process Source: Ensembl
- neurogenesis Source: Ensembl
- positive regulation of apoptotic process Source: Ensembl
- protein localization to postsynaptic membrane Source: Ensembl
- regulation of NMDA receptor activity Source: Reactome
- regulation of synaptic plasticity Source: ARUK-UCL
- response to amphetamine Source: Ensembl
- response to ethanol Source: UniProtKB
- response to wounding Source: Ensembl
- sensory perception of pain Source: Ensembl
- serotonin metabolic process Source: Ensembl
- sleep Source: Ensembl
- startle response Source: Ensembl
- synaptic transmission, glutamatergic Source: GO_Central
- visual learning Source: Ensembl
Keywordsi
Molecular function | Ion channel, Ligand-gated ion channel, Receptor |
Biological process | Ion transport, Transport |
Ligand | Calcium, Magnesium, Metal-binding, Zinc |
Enzyme and pathway databases
Reactomei | R-HSA-438066 Unblocking of NMDA receptors, glutamate binding and activation R-HSA-6794361 Neurexins and neuroligins R-HSA-8849932 Synaptic adhesion-like molecules R-HSA-9022699 MECP2 regulates neuronal receptors and channels R-HSA-9609736 Assembly and cell surface presentation of NMDA receptors R-HSA-9617324 Negative regulation of NMDA receptor-mediated neuronal transmission R-HSA-9620244 Long-term potentiation |
SignaLinki | Q12879 |
SIGNORi | Q12879 |
Protein family/group databases
TCDBi | 1.A.10.1.20 the glutamate-gated ion channel (gic) family of neurotransmitter receptors |
Names & Taxonomyi
Protein namesi | Recommended name: Glutamate receptor ionotropic, NMDA 2AShort name: GluN2A Alternative name(s): Glutamate [NMDA] receptor subunit epsilon-1 N-methyl D-aspartate receptor subtype 2A Short name: NMDAR2A1 Publication Short name: NR2A Short name: hNR2A1 Publication |
Gene namesi | Name:GRIN2A Synonyms:NMDAR2A |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:4585 GRIN2A |
MIMi | 138253 gene |
neXtProti | NX_Q12879 |
Subcellular locationi
Plasma membrane
- Cell membrane 4 Publications; Multi-pass membrane protein Curated
- postsynaptic cell membrane By similarity; Multi-pass membrane protein Curated
Other locations
- dendritic spine By similarity
- synapse By similarity
- Cytoplasmic vesicle membrane By similarity
Note: Expression at the dendrite cell membrane and at synapses is regulated by SORCS2 and the retromer complex.By similarity
Endoplasmic reticulum
- endoplasmic reticulum Source: Ensembl
Plasma Membrane
- integral component of plasma membrane Source: UniProtKB
- integral component of postsynaptic density membrane Source: Ensembl
- NMDA selective glutamate receptor complex Source: UniProtKB
- plasma membrane Source: UniProtKB
- postsynaptic density membrane Source: GO_Central
- postsynaptic membrane Source: GO_Central
- presynaptic membrane Source: Ensembl
- synaptic membrane Source: ARUK-UCL
Other locations
- cell Source: GOC
- cell junction Source: UniProtKB-KW
- cell surface Source: ARUK-UCL
- cytoplasmic vesicle membrane Source: UniProtKB-SubCell
- dendritic spine Source: UniProtKB-SubCell
- glutamatergic synapse Source: Ensembl
- postsynaptic density Source: UniProtKB
- synaptic vesicle Source: Ensembl
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 23 – 555 | ExtracellularBy similarityAdd BLAST | 533 | |
Transmembranei | 556 – 576 | HelicalBy similarityAdd BLAST | 21 | |
Topological domaini | 577 – 600 | CytoplasmicBy similarityAdd BLAST | 24 | |
Intramembranei | 601 – 620 | Discontinuously helicalBy similarityAdd BLAST | 20 | |
Topological domaini | 621 – 625 | CytoplasmicBy similarity | 5 | |
Transmembranei | 626 – 645 | HelicalBy similarityAdd BLAST | 20 | |
Topological domaini | 646 – 816 | ExtracellularBy similarityAdd BLAST | 171 | |
Transmembranei | 817 – 837 | HelicalBy similarityAdd BLAST | 21 | |
Topological domaini | 838 – 1464 | CytoplasmicBy similarityAdd BLAST | 627 |
Keywords - Cellular componenti
Cell junction, Cell membrane, Cell projection, Cytoplasmic vesicle, Membrane, Postsynaptic cell membrane, SynapsePathology & Biotechi
Involvement in diseasei
Epilepsy, focal, with speech disorder and with or without mental retardation (FESD)12 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_070345 | 79 | P → R in FESD. 1 PublicationCorresponds to variant dbSNP:rs1250662891EnsemblClinVar. | 1 | |
Natural variantiVAR_070346 | 184 | I → S in FESD; unknown pathological significance. 1 Publication | 1 | |
Natural variantiVAR_070347 | 231 | C → Y in FESD; unknown pathological significance. 1 Publication | 1 | |
Natural variantiVAR_070348 | 243 | A → V in FESD; results in reduced high-affinity zinc mediated inhibition. 1 Publication | 1 | |
Natural variantiVAR_070349 | 290 | A → V in FESD. 1 PublicationCorresponds to variant dbSNP:rs199528312EnsemblClinVar. | 1 | |
Natural variantiVAR_070350 | 295 | G → S in FESD; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs568484876EnsemblClinVar. | 1 | |
Natural variantiVAR_070351 | 370 | R → W in FESD. 1 PublicationCorresponds to variant dbSNP:rs761168789Ensembl. | 1 | |
Natural variantiVAR_070352 | 436 | C → R in FESD; decreased protein abundance; loss of localization to the cell membrane; changed glutamate-gated calcium ion channel activity characterized by increased glutamate potency and decreased glycine potency. 2 PublicationsCorresponds to variant dbSNP:rs1555496111EnsemblClinVar. | 1 | |
Natural variantiVAR_070353 | 483 | G → R in FESD; decreased protein abundance; decreased localization to the cell membrane; changed glutamate-gated calcium ion channel activity characterized by decreased glutamate potency. 2 Publications | 1 | |
Natural variantiVAR_070354 | 504 | R → W in FESD; decreased protein abundance; decreased localization to the cell membrane; no significant effect on calcium ion transmembrane import into cytosol. 2 PublicationsCorresponds to variant dbSNP:rs1360906241Ensembl. | 1 | |
Natural variantiVAR_079933 | 506 | V → A in FESD; no effect on localization to the cell membrane; changed glutamate-gated calcium ion channel activity characterized by increased glutamate potency. 1 PublicationCorresponds to variant dbSNP:rs796052543EnsemblClinVar. | 1 | |
Natural variantiVAR_070355 | 518 | R → H in FESD; decreased protein abundance; decreased localization to the cell membrane; changed glutamate-gated calcium ion channel activity characterized by affected receptor kinetics. 2 PublicationsCorresponds to variant dbSNP:rs397518470EnsemblClinVar. | 1 | |
Natural variantiVAR_070356 | 531 | T → M in FESD; decreased protein abundance; decreased localization to the cell membrane; changed glutamate-gated calcium ion channel activity characterized by affected receptor kinetics. 2 PublicationsCorresponds to variant dbSNP:rs397518468EnsemblClinVar. | 1 | |
Natural variantiVAR_070357 | 547 | Missing in FESD. 1 Publication | 1 | |
Natural variantiVAR_070358 | 548 | A → T in FESD; no effect on localization to the cell membrane; loss of glutamate-gated calcium ion channel activity. 2 Publications | 1 | |
Natural variantiVAR_069382 | 552 | P → R in FESD; no effect on localization to the cell membrane; changed glutamate-gated calcium ion channel activity characterized by increased glutamate and glycine potency with delay in rise time and slower deactivation time course. 2 PublicationsCorresponds to variant dbSNP:rs397518450EnsemblClinVar. | 1 | |
Natural variantiVAR_065899 | 615 | N → K in FESD; the mutant receptor has decreased calcium permeability; shows a dominant-negative effect. 1 PublicationCorresponds to variant dbSNP:rs397518447EnsemblClinVar. | 1 | |
Natural variantiVAR_069383 | 649 | L → V in FESD. 1 PublicationCorresponds to variant dbSNP:rs397514557EnsemblClinVar. | 1 | |
Natural variantiVAR_070359 | 652 | F → V in FESD; affects receptor kinetics. 1 PublicationCorresponds to variant dbSNP:rs397518471EnsemblClinVar. | 1 | |
Natural variantiVAR_070360 | 669 | K → N in FESD; no effect on localization to the cell membrane; changed glutamate-gated calcium ion channel activity characterized by increased glutamate and glycine potency. 2 Publications | 1 | |
Natural variantiVAR_079935 | 685 | V → G in FESD; decreased protein abundance; decreased localization to the cell membrane; changed glutamate-gated calcium ion channel activity characterized by decreased glutamate potency. 1 PublicationCorresponds to variant dbSNP:rs796052548EnsemblClinVar. | 1 | |
Natural variantiVAR_070361 | 694 | I → T in FESD; decreased protein abundance; decreased localization to the cell membrane; changed glutamate-gated calcium ion channel activity characterized by decreased glutamate potency and decreased open probability. 2 Publications | 1 | |
Natural variantiVAR_070362 | 699 | P → S in FESD; no effect on localization to the cell membrane; changed glutamate-gated calcium ion channel activity characterized by increased glutamate potency and decreased open probability. 2 PublicationsCorresponds to variant dbSNP:rs1555491648EnsemblClinVar. | 1 | |
Natural variantiVAR_070363 | 705 | M → V in FESD; decreased localization to the cell membrane; changed glutamate-gated calcium ion channel activity characterized by decreased glutamate potency and decreased open probability. 2 Publications | 1 | |
Natural variantiVAR_070364 | 714 | E → K in FESD; decreased protein abundance; no effect on localization to the cell membrane; no significant effect on calcium ion transmembrane import into cytosol. 2 Publications | 1 | |
Natural variantiVAR_078110 | 716 | A → D in FESD; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1057519552EnsemblClinVar. | 1 | |
Natural variantiVAR_070365 | 716 | A → T in FESD; decreased protein abundance; decreased localization to the cell membrane; changed glutamate-gated calcium ion channel activity characterized by decreased glutamate potency. 2 PublicationsCorresponds to variant dbSNP:rs762659685EnsemblClinVar. | 1 | |
Natural variantiVAR_070366 | 727 | A → T in FESD; decreased protein abundance; decreased localization to the cell membrane; changed glutamate-gated calcium ion channel activity characterized by decreased glutamate potency and decreased open probability. 2 PublicationsCorresponds to variant dbSNP:rs1555488144EnsemblClinVar. | 1 | |
Natural variantiVAR_070367 | 731 | D → N in FESD; decreased protein abundance; decreased localization to the cell membrane; decreased glutamate-gated calcium ion channel activity characterized by drastically decreased glutamate agonist potency, decreased glycine agonist potency, reduced amplitude of current response, shortened synaptic-like response time course, decreased channel open probability and enhanced sensitivity to negative allosteric modulators. 3 PublicationsCorresponds to variant dbSNP:rs796052549EnsemblClinVar. | 1 | |
Natural variantiVAR_070368 | 734 | V → L in FESD; no effect on localization to the cell membrane; changed glutamate-gated calcium ion channel activity characterized by decreased glutamate potency. 2 Publications | 1 | |
Natural variantiVAR_070369 | 772 | K → E in FESD; decreased protein abundance; decreased localization to the cell membrane; changed glutamate-gated calcium ion channel activity characterized by decreased glutamate potency and decreased open probability. 2 Publications | 1 | |
Natural variantiVAR_072750 | 812 | L → 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 Publication | 1 | |
Natural variantiVAR_070370 | 814 | I → T in FESD; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs780654733EnsemblClinVar. | 1 | |
Natural variantiVAR_071626 | 817 | M → V in FESD; gain-of-function characterized by enhanced agonist potency, reduced sensitivity to endogenous negative inhibitors, prolonged synaptic-like response time course, increased single-channel mean open time and increased channel open probability. 2 PublicationsCorresponds to variant dbSNP:rs796052551EnsemblClinVar. | 1 | |
Natural variantiVAR_070371 | 904 | I → F in FESD. 1 PublicationCorresponds to variant dbSNP:rs1555482933EnsemblClinVar. | 1 | |
Natural variantiVAR_070372 | 933 | D → N in FESD; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs933322445Ensembl. | 1 | |
Natural variantiVAR_070373 | 976 | N → S in FESD. 1 PublicationCorresponds to variant dbSNP:rs886039239EnsemblClinVar. | 1 | |
Natural variantiVAR_070374 | 1251 | D → N in FESD. 1 Publication | 1 |
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 552 | P → A: Changed glutamate-gated calcium ion channel activity characterized by increased desensitization. 1 Publication | 1 | |
Mutagenesisi | 552 | P → G: Changed glutamate-gated calcium ion channel activity characterized by accelerated response activation time and increased desensitization. 1 Publication | 1 | |
Mutagenesisi | 552 | P → I: Changed glutamate-gated calcium ion channel activity characterized by increased desensitization. 1 Publication | 1 | |
Mutagenesisi | 552 | P → K: Changed glutamate-gated calcium ion channel activity characterized by increased glutamate and glycine potency with delay in rise time and slower deactivation time course. 1 Publication | 1 | |
Mutagenesisi | 552 | P → L: No effect on localization to the cell membrane. Changed glutamate-gated calcium ion channel activity characterized by increased desensitization. 1 Publication | 1 | |
Mutagenesisi | 552 | P → Q: No effect on localization to the cell membrane. Changed glutamate-gated calcium ion channel activity characterized by decreased response amplitude and changed desensitization without effect on response rise time or deactivation time course. 1 Publication | 1 |
Keywords - Diseasei
Disease mutation, EpilepsyOrganism-specific databases
DisGeNETi | 2903 |
GeneReviewsi | GRIN2A |
MalaCardsi | GRIN2A |
MIMi | 245570 phenotype |
OpenTargetsi | ENSG00000183454 |
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 syndrome |
PharmGKBi | PA28979 |
Miscellaneous databases
Pharosi | Q12879 |
Chemistry databases
ChEMBLi | CHEMBL1972 |
DrugBanki | DB00659 Acamprosate DB06151 Acetylcysteine DB00289 Atomoxetine DB11823 Esketamine DB00949 Felbamate DB13146 Fluciclovine (18F) DB00996 Gabapentin DB06741 Gavestinel DB00142 Glutamic Acid DB00145 Glycine DB00874 Guaifenesin DB01159 Halothane DB06738 Ketobemidone DB09409 Magnesium acetate tetrahydrate DB09481 Magnesium carbonate DB01043 Memantine DB00454 Meperidine DB04896 Milnacipran DB00312 Pentobarbital DB01174 Phenobarbital DB01708 Prasterone DB00418 Secobarbital DB01520 Tenocyclidine |
DrugCentrali | Q12879 |
GuidetoPHARMACOLOGYi | 456 |
Polymorphism and mutation databases
BioMutai | GRIN2A |
DMDMi | 14285603 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Signal peptidei | 1 – 22 | Sequence analysisAdd BLAST | 22 | |
ChainiPRO_0000011573 | 23 – 1464 | Glutamate receptor ionotropic, NMDA 2AAdd BLAST | 1442 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Glycosylationi | 75 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Disulfide bondi | 87 ↔ 320 | By similarity | ||
Glycosylationi | 340 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 380 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Disulfide bondi | 429 ↔ 455 | Combined sources3 Publications | ||
Disulfide bondi | 436 ↔ 456 | Combined sources3 Publications | ||
Glycosylationi | 443 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 444 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 541 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Disulfide bondi | 745 ↔ 800 | By similarity | ||
Modified residuei | 882 | PhosphoserineBy similarity | 1 | |
Modified residuei | 890 | PhosphoserineBy similarity | 1 | |
Modified residuei | 929 | PhosphoserineBy similarity | 1 | |
Modified residuei | 1025 | PhosphoserineBy similarity | 1 | |
Modified residuei | 1059 | PhosphoserineBy similarity | 1 | |
Modified residuei | 1062 | PhosphoserineBy similarity | 1 | |
Modified residuei | 1198 | PhosphoserineBy similarity | 1 | |
Modified residuei | 1291 | PhosphoserineBy similarity | 1 |
Keywords - PTMi
Disulfide bond, Glycoprotein, PhosphoproteinProteomic databases
jPOSTi | Q12879 |
MassIVEi | Q12879 |
PaxDbi | Q12879 |
PeptideAtlasi | Q12879 |
PRIDEi | Q12879 |
ProteomicsDBi | 58998 [Q12879-1] 61175 |
PTM databases
iPTMneti | Q12879 |
PhosphoSitePlusi | Q12879 |
Expressioni
Gene expression databases
Bgeei | ENSG00000183454 Expressed in 135 organ(s), highest expression level in primary visual cortex |
ExpressionAtlasi | Q12879 baseline and differential |
Genevisiblei | Q12879 HS |
Organism-specific databases
HPAi | CAB022725 |
Interactioni
Subunit structurei
Heterotetramer. Forms heterotetrameric channels composed of two zeta subunits (GRIN1), and two epsilon subunits (GRIN2A, GRIN2B, GRIN2C or GRIN2D) (in vitro) (PubMed:8768735, PubMed:26919761, PubMed:26875626, PubMed:28105280). Can also form heterotetrameric channels that contain at least one zeta subunit (GRIN1), at least one epsilon subunit, plus GRIN3A or GRIN3B. In vivo, the subunit composition may depend on the expression levels of the different subunits.
Found in a complex with GRIN1, GRIN3A and PPP2CB (By similarity).
Found in a complex with GRIN1 and GRIN3B (By similarity).
Interacts with AIP1 (By similarity).
Interacts with HIP1 and NETO1.
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).
Interacts with PDZ domains of PATJ and DLG4.
Interacts with LRFN2 (By similarity).
Interacts with RPH3A and DLG4; this ternary complex regulates NMDA receptor composition at postsynaptic membranes (By similarity).
Interacts with SORCS2 (By similarity).
Interacts with ARC; preventing ARC oligomerization (By similarity).
By similarity4 PublicationsBinary interactionsi
Protein-protein interaction databases
BioGridi | 109160, 49 interactors |
ComplexPortali | CPX-2202 NMDA receptor complex, GluN1-GluN2A CPX-294 NMDA receptor complex, GluN1-GluN2A-GluN2B |
CORUMi | Q12879 |
DIPi | DIP-40798N |
IntActi | Q12879, 6 interactors |
MINTi | Q12879 |
STRINGi | 9606.ENSP00000379818 |
Chemistry databases
BindingDBi | Q12879 |
Structurei
Secondary structure
3D structure databases
SMRi | Q12879 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | Q12879 |
Family & Domainsi
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 511 – 513 | Glutamate bindingCombined sources3 Publications | 3 | |
Regioni | 599 – 620 | Pore-formingBy similarityAdd BLAST | 22 | |
Regioni | 689 – 690 | Glutamate bindingBy similarity | 2 | |
Regioni | 730 – 731 | Glutamate bindingBy similarity | 2 |
Motif
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Motifi | 1462 – 1464 | PDZ-bindingCurated | 3 |
Domaini
Sequence similaritiesi
Keywords - Domaini
Signal, Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG1053 Eukaryota ENOG410XNUR LUCA |
GeneTreei | ENSGT00940000156222 |
HOGENOMi | HOG000113802 |
InParanoidi | Q12879 |
KOi | K05209 |
OMAi | WPRYNAH |
OrthoDBi | 188544at2759 |
PhylomeDBi | Q12879 |
TreeFami | TF314731 |
Family and domain databases
InterProi | View protein in InterPro IPR001828 ANF_lig-bd_rcpt IPR019594 Glu/Gly-bd IPR001508 Iono_rcpt_met IPR001320 Iontro_rcpt IPR018884 NMDAR2_C IPR028082 Peripla_BP_I |
Pfami | View protein in Pfam PF01094 ANF_receptor, 1 hit PF00060 Lig_chan, 1 hit PF10613 Lig_chan-Glu_bd, 1 hit PF10565 NMDAR2_C, 1 hit |
PRINTSi | PR00177 NMDARECEPTOR |
SMARTi | View protein in SMART SM00918 Lig_chan-Glu_bd, 1 hit SM00079 PBPe, 1 hit |
SUPFAMi | SSF53822 SSF53822, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
Computationally mapped potential isoform sequencesi
There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketF5GZ52 | F5GZ52_HUMAN | Glutamate receptor ionotropic, NMDA... | GRIN2A | 1,144 | Annotation score: | ||
A0A1B0GUT1 | A0A1B0GUT1_HUMAN | Glutamate receptor ionotropic, NMDA... | GRIN2A | 200 | Annotation score: | ||
A0A1B0GU35 | A0A1B0GU35_HUMAN | Glutamate receptor ionotropic, NMDA... | GRIN2A | 10 | Annotation score: | ||
A0A1B0GVW1 | A0A1B0GVW1_HUMAN | Glutamate receptor ionotropic, NMDA... | GRIN2A | 19 | Annotation score: |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_067725 | 57 | P → L Found in a cutaneous malignant melanoma sample; somatic mutation. 1 Publication | 1 | |
Natural variantiVAR_070345 | 79 | P → R in FESD. 1 PublicationCorresponds to variant dbSNP:rs1250662891EnsemblClinVar. | 1 | |
Natural variantiVAR_079929 | 143 | T → I Found in a patient with autism spectrum disorder; unknown pathological significance. 1 Publication | 1 | |
Natural variantiVAR_067726 | 183 | F → 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 dbSNP:rs587780353EnsemblClinVar. | 1 | |
Natural variantiVAR_070346 | 184 | I → S in FESD; unknown pathological significance. 1 Publication | 1 | |
Natural variantiVAR_079930 | 189 | T → N Found in a patient with schizophrenia; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1377082706Ensembl. | 1 | |
Natural variantiVAR_070347 | 231 | C → Y in FESD; unknown pathological significance. 1 Publication | 1 | |
Natural variantiVAR_070348 | 243 | A → V in FESD; results in reduced high-affinity zinc mediated inhibition. 1 Publication | 1 | |
Natural variantiVAR_067727 | 252 | D → N Found in a cutaneous malignant melanoma sample; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs868215122Ensembl. | 1 | |
Natural variantiVAR_010938 | 270 | K → E1 Publication | 1 | |
Natural variantiVAR_067728 | 278 | S → F Found in a cutaneous malignant melanoma sample; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs148531310Ensembl. | 1 | |
Natural variantiVAR_070349 | 290 | A → V in FESD. 1 PublicationCorresponds to variant dbSNP:rs199528312EnsemblClinVar. | 1 | |
Natural variantiVAR_070350 | 295 | G → S in FESD; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs568484876EnsemblClinVar. | 1 | |
Natural variantiVAR_079931 | 336 | P → S1 PublicationCorresponds to variant dbSNP:rs148511104EnsemblClinVar. | 1 | |
Natural variantiVAR_071624 | 349 | S → F Found in a cutaneous malignant melanoma sample. 1 Publication | 1 | |
Natural variantiVAR_070351 | 370 | R → W in FESD. 1 PublicationCorresponds to variant dbSNP:rs761168789Ensembl. | 1 | |
Natural variantiVAR_067729 | 371 | E → K Found in a cutaneous malignant melanoma sample; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs149344082Ensembl. | 1 | |
Natural variantiVAR_067730 | 373 | E → K Found in a cutaneous malignant melanoma sample; somatic mutation. 1 Publication | 1 | |
Natural variantiVAR_078109 | 380 | N → D Found in a patient with neonatal onset epileptic encephalopathy; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1057519551EnsemblClinVar. | 1 | |
Natural variantiVAR_070352 | 436 | C → R in FESD; decreased protein abundance; loss of localization to the cell membrane; changed glutamate-gated calcium ion channel activity characterized by increased glutamate potency and decreased glycine potency. 2 PublicationsCorresponds to variant dbSNP:rs1555496111EnsemblClinVar. | 1 | |
Natural variantiVAR_067731 | 449 | G → E Found in a cutaneous malignant melanoma sample; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs139033056Ensembl. | 1 | |
Natural variantiVAR_079932 | 452 | V → M No effect on localization to the cell membrane; changed glutamate-gated calcium ion channel activity characterized by increased glutamate potency. 2 PublicationsCorresponds to variant dbSNP:rs145956175EnsemblClinVar. | 1 | |
Natural variantiVAR_067732 | 459 | F → S Found in a cutaneous malignant melanoma sample; somatic mutation. 1 Publication | 1 | |
Natural variantiVAR_070353 | 483 | G → R in FESD; decreased protein abundance; decreased localization to the cell membrane; changed glutamate-gated calcium ion channel activity characterized by decreased glutamate potency. 2 Publications | 1 | |
Natural variantiVAR_070354 | 504 | R → W in FESD; decreased protein abundance; decreased localization to the cell membrane; no significant effect on calcium ion transmembrane import into cytosol. 2 PublicationsCorresponds to variant dbSNP:rs1360906241Ensembl. | 1 | |
Natural variantiVAR_079933 | 506 | V → A in FESD; no effect on localization to the cell membrane; changed glutamate-gated calcium ion channel activity characterized by increased glutamate potency. 1 PublicationCorresponds to variant dbSNP:rs796052543EnsemblClinVar. | 1 | |
Natural variantiVAR_070355 | 518 | R → H in FESD; decreased protein abundance; decreased localization to the cell membrane; changed glutamate-gated calcium ion channel activity characterized by affected receptor kinetics. 2 PublicationsCorresponds to variant dbSNP:rs397518470EnsemblClinVar. | 1 | |
Natural variantiVAR_070356 | 531 | T → M in FESD; decreased protein abundance; decreased localization to the cell membrane; changed glutamate-gated calcium ion channel activity characterized by affected receptor kinetics. 2 PublicationsCorresponds to variant dbSNP:rs397518468EnsemblClinVar. | 1 | |
Natural variantiVAR_070357 | 547 | Missing in FESD. 1 Publication | 1 | |
Natural variantiVAR_070358 | 548 | A → T in FESD; no effect on localization to the cell membrane; loss of glutamate-gated calcium ion channel activity. 2 Publications | 1 | |
Natural variantiVAR_069382 | 552 | P → R in FESD; no effect on localization to the cell membrane; changed glutamate-gated calcium ion channel activity characterized by increased glutamate and glycine potency with delay in rise time and slower deactivation time course. 2 PublicationsCorresponds to variant dbSNP:rs397518450EnsemblClinVar. | 1 | |
Natural variantiVAR_079934 | 576 | F → S1 Publication | 1 | |
Natural variantiVAR_067733 | 595 | H → R Found in a cutaneous malignant melanoma sample; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs551688681Ensembl. | 1 | |
Natural variantiVAR_067734 | 598 | S → F Found in a cutaneous malignant melanoma sample; somatic mutation. 1 Publication | 1 | |
Natural variantiVAR_065899 | 615 | N → K in FESD; the mutant receptor has decreased calcium permeability; shows a dominant-negative effect. 1 PublicationCorresponds to variant dbSNP:rs397518447EnsemblClinVar. | 1 | |
Natural variantiVAR_069383 | 649 | L → V in FESD. 1 PublicationCorresponds to variant dbSNP:rs397514557EnsemblClinVar. | 1 | |
Natural variantiVAR_070359 | 652 | F → V in FESD; affects receptor kinetics. 1 PublicationCorresponds to variant dbSNP:rs397518471EnsemblClinVar. | 1 | |
Natural variantiVAR_067735 | 653 | M → I Found in a cutaneous malignant melanoma sample; somatic mutation. 1 Publication | 1 | |
Natural variantiVAR_070360 | 669 | K → N in FESD; no effect on localization to the cell membrane; changed glutamate-gated calcium ion channel activity characterized by increased glutamate and glycine potency. 2 Publications | 1 | |
Natural variantiVAR_079935 | 685 | V → G in FESD; decreased protein abundance; decreased localization to the cell membrane; changed glutamate-gated calcium ion channel activity characterized by decreased glutamate potency. 1 PublicationCorresponds to variant dbSNP:rs796052548EnsemblClinVar. | 1 | |
Natural variantiVAR_070361 | 694 | I → T in FESD; decreased protein abundance; decreased localization to the cell membrane; changed glutamate-gated calcium ion channel activity characterized by decreased glutamate potency and decreased open probability. 2 Publications | 1 | |
Natural variantiVAR_070362 | 699 | P → S in FESD; no effect on localization to the cell membrane; changed glutamate-gated calcium ion channel activity characterized by increased glutamate potency and decreased open probability. 2 Publications |