GRIN2A Gene

HGNC Family	Ion channels, Glutamate receptors
Name	glutamate receptor, ionotropic, N-methyl D-aspartate 2A
Description	This gene encodes a member of the glutamate-gated ion channel protein family. The encoded protein is an N-methyl-D-aspartate (NMDA) receptor subunit. NMDA receptors are both ligand-gated and voltage-dependent, and are involved in long-term potentiation, an activity-dependent increase in the efficiency of synaptic transmission thought to underlie certain kinds of memory and learning. These receptors are permeable to calcium ions, and activation results in a calcium influx into post-synaptic cells, which results in the activation of several signaling cascades. Disruption of this gene is associated with focal epilepsy and speech disorder with or without cognitive disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n GRIN2A encodes the NR2A subunit of N‐methyl‐D‐aspartate (NMDA) receptors, which are central to excitatory synaptic transmission and plasticity. Heteromeric NMDA receptors assembled from NR1 and NR2A subunits display distinct gating properties and voltage‐dependent magnesium blockade that underlie their high calcium permeability and precise regulation of neuronal excitability."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": " In the developing and mature brain, the incorporation of NR2A influences synaptic maturation and the balancing of excitatory currents, with altered receptor function contributing to neurodevelopmental disorders. In particular, mutations and disruptions in GRIN2A have been associated with a spectrum of neurological phenotypes, including mental retardation, epilepsy, and epilepsy–aphasia syndromes, likely through changes in channel kinetics such as loss of magnesium block and decreased calcium permeability"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "2"}]}, {"type": "t", "text": "and."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "3"}]}, {"type": "t", "text": " Moreover, aberrant expression of GRIN2A has been documented in non‐neuronal contexts: for example, upregulation of GRIN2A occurs in ALK‐positive lung adenocarcinomas, and recurrent GRIN2A mutations are prevalent in melanoma samples, implicating dysregulated glutamate signaling in oncogenic processes"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "4"}]}, {"type": "t", "text": "and."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "5"}]}, {"type": "t", "text": "\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "H Monyer, R Sprengel, R Schoepfer, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Heteromeric NMDA receptors: molecular and functional distinction of subtypes."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Science (1992)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1126/science.256.5060.1217"}], "href": "https://doi.org/10.1126/science.256.5060.1217"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "1350383"}], "href": "https://pubmed.ncbi.nlm.nih.gov/1350383"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Sabine Endele, Georg Rosenberger, Kirsten Geider, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Genet (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/ng.677"}], "href": "https://doi.org/10.1038/ng.677"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20890276"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20890276"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Gemma L Carvill, Brigid M Regan, Simone C Yendle, et al. "}, {"type": "b", "children": [{"type": "t", "text": "GRIN2A mutations cause epilepsy-aphasia spectrum disorders."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Genet (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/ng.2727"}], "href": "https://doi.org/10.1038/ng.2727"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23933818"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23933818"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Hirokazu Okayama, Takashi Kohno, Yuko Ishii, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Identification of genes upregulated in ALK-positive and EGFR/KRAS/ALK-negative lung adenocarcinomas."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cancer Res (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1158/0008-5472.CAN-11-1403"}], "href": "https://doi.org/10.1158/0008-5472.CAN-11-1403"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22080568"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22080568"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Xiaomu Wei, Vijay Walia, Jimmy C Lin, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Exome sequencing identifies GRIN2A as frequently mutated in melanoma."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Genet (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/ng.810"}], "href": "https://doi.org/10.1038/ng.810"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21499247"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21499247"}]}]}]}
Synonyms	NMDAR2A, GLUN2A, NR2A, EPND, LKS, FESD
Proteins	NMDE1_HUMAN
NCBI Gene ID	2903
API
Download Associations
Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

GRIN2A has 7,327 functional associations with biological entities spanning 9 categories (molecular profile, organism, functional term, phrase or reference, disease, phenotype or trait, chemical, structural feature, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 126 datasets.

Click the + buttons to view associations for GRIN2A from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

GRIN2A Gene

Functional Associations

Please acknowledge the Harmonizome in your publications by citing the following reference(s):

	Dataset	Summary
	Achilles Cell Line Gene Essentiality Profiles	cell lines with fitness changed by GRIN2A gene knockdown relative to other cell lines from the Achilles Cell Line Gene Essentiality Profiles dataset.
	Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of GRIN2A gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles	tissues with high or low expression of GRIN2A gene relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray	tissue samples with high or low expression of GRIN2A gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq	tissue samples with high or low expression of GRIN2A gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq dataset.
	Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of GRIN2A gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.
	Biocarta Pathways	pathways involving GRIN2A protein from the Biocarta Pathways dataset.
	BioGPS Cell Line Gene Expression Profiles	cell lines with high or low expression of GRIN2A gene relative to other cell lines from the BioGPS Cell Line Gene Expression Profiles dataset.
	BioGPS Human Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of GRIN2A gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset.
	BioGPS Mouse Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of GRIN2A gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of GRIN2A gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset.
	CCLE Cell Line Gene Expression Profiles	cell lines with high or low expression of GRIN2A gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CCLE Cell Line Gene Mutation Profiles	cell lines with GRIN2A gene mutations from the CCLE Cell Line Gene Mutation Profiles dataset.
	ChEA Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of GRIN2A gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of GRIN2A gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset.
	ChEA Transcription Factor Targets 2022	transcription factors binding the promoter of GRIN2A gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	ClinVar Gene-Phenotype Associations	phenotypes associated with GRIN2A gene from the curated ClinVar Gene-Phenotype Associations dataset.
	CMAP Signatures of Differentially Expressed Genes for Small Molecules	small molecule perturbations changing expression of GRIN2A gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing GRIN2A protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing GRIN2A protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with GRIN2A protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025	cellular components co-occuring with GRIN2A protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
	CORUM Protein Complexes	protein complexs containing GRIN2A protein from the CORUM Protein Complexes dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with GRIN2A gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Chemical Interactions	chemicals interacting with GRIN2A gene/protein from the curated CTD Gene-Chemical Interactions dataset.
	CTD Gene-Disease Associations	diseases associated with GRIN2A gene/protein from the curated CTD Gene-Disease Associations dataset.
	dbGAP Gene-Trait Associations	traits associated with GRIN2A gene in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset.
	DepMap CRISPR Gene Dependency	cell lines with fitness changed by GRIN2A gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores	diseases involving GRIN2A gene from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores 2025	diseases involving GRIN2A gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores	diseases associated with GRIN2A gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores 2025	diseases associated with GRIN2A gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores	diseases co-occuring with GRIN2A gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	diseases co-occuring with GRIN2A gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
	DisGeNET Gene-Disease Associations	diseases associated with GRIN2A gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with GRIN2A gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset.
	DrugBank Drug Targets	interacting drugs for GRIN2A protein from the curated DrugBank Drug Targets dataset.
	ENCODE Histone Modification Site Profiles	histone modification site profiles with high histone modification abundance at GRIN2A gene from the ENCODE Histone Modification Site Profiles dataset.
	ENCODE Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of GRIN2A gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of GRIN2A gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset.