GRIN2A

Protein-coding gene in the species Homo sapiens From Wikipedia, the free encyclopedia

Glutamate Receptor Ionotropic, [NMDA] subunit epsilon-1 is a protein that in humans is encoded by the GRIN2A gene.[5] With 1464 amino acids, the canonical GluN2A subunit isoform is large. GluN2A-short isoforms specific to primates can be produced by alternative splicing and contain 1281 amino acids.[6][7]

PDBOrtholog search: PDBe RCSB
AliasesGRIN2A, EPND, FESD, GluN2A, LKS, NMDAR2A, NR2A, glutamate ionotropic receptor NMDA type subunit 2A
Quick facts Available structures, PDB ...
GRIN2A
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesGRIN2A, EPND, FESD, GluN2A, LKS, NMDAR2A, NR2A, glutamate ionotropic receptor NMDA type subunit 2A
External IDsOMIM: 138253; MGI: 95820; HomoloGene: 645; GeneCards: GRIN2A; OMA:GRIN2A - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_000833
NM_001134407
NM_001134408

NM_008170

RefSeq (protein)

NP_000824
NP_001127879
NP_001127880

NP_032196

Location (UCSC)Chr 16: 9.75 – 10.18 MbChr 16: 9.39 – 9.81 Mb
PubMed search[3][4]
Wikidata
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Function

N-methyl-D-aspartate (NMDA) receptors are a class of ionotropic glutamate receptors. NMDA channel has been shown to be involved in long-term potentiation, an activity-dependent increase in the efficiency of synaptic transmission thought to underlie certain kinds of memory and learning. NMDA receptor channels are heteromers composed of the key receptor subunit NMDAR1 (GRIN1) and 1 or more of the 4 NMDAR2 subunits: NMDAR2A (GRIN2A), NMDAR2B (GRIN2B), NMDAR2C (GRIN2C), and NMDAR2D (GRIN2D).[8]

Clinical significance

Variants of the gene are associated with the protective effect of coffee on Parkinson's disease.[9][10]

Mutations in GRIN2A are associated to refractory epilepsy.[11]

Whole exome/genome sequencing has led to the discovery of an association between mutations in GRIN2A and a wide variety of neurological diseases, including epilepsy, intellectual disability, autism spectrum disorders, developmental delay, and schizophrenia.[12][13][14][15]

Interactions

See also

References

Further reading

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