GRIN2A
Glutamate Ionotropic Receptor NMDA Type Subunit 2A
Gene Information Card
| Symbol | GRIN2A |
|---|---|
| Full Name | Glutamate Ionotropic Receptor NMDA Type Subunit 2A |
| Gene Type | Protein coding |
| Chromosomal Location | 16p13.2 |
| NCBI Gene ID | 2903 ncbi.nlm.nih.gov/gene/2903 |
| Ensembl ID | ENSG00000183454 |
| UniProt ID | Q12879 |
| OMIM ID | 138253 |
| HGNC ID | 4589 |
| Aliases | GluN2A, NMDAR2A, NR2A |
Description
GRIN2A encodes the GluN2A subunit of the N-methyl-D-aspartate (NMDA) receptor, a glutamate-gated ion channel critical for excitatory neurotransmission, synaptic plasticity, learning, and memory. The receptor is a heterotetramer composed of two GluN1 and two GluN2 subunits; GluN2A is the predominant GluN2 subunit in the adult forebrain. Mutations in GRIN2A are associated with neurodevelopmental disorders including epilepsy, intellectual disability, and speech and language impairments.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Epilepsy, focal, with speech disorder and with or without intellectual disability | Loss-of-function or gain-of-function variants alter NMDA receptor activity, disrupting synaptic transmission | ClinVar, OMIM |
| Landau-Kleffner syndrome | Missense mutations reduce receptor function, leading to epileptic encephalopathy and language regression | ClinVar, OMIM |
| Intellectual disability, autosomal dominant | De novo missense mutations impair receptor trafficking or channel gating | ClinVar, OMIM |
| Schizophrenia | Common variants in GRIN2A may modulate NMDA receptor hypofunction, a key hypothesis in schizophrenia | NCBI Gene, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 29.8 | High |
| Cerebral cortex | 35.2 | High |
| Hippocampus | 32.1 | High |
| Cerebellum | 18.5 | Medium |
| Testis | 1.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 12.5 | Neuroblastoma cell line |
| SK-N-SH | 10.8 | Neuroblastoma cell line |
| HEK293 | 0.3 | Low expression |
| U-87 MG | 0.1 | Glioblastoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2440G>A (p.Gly814Arg) | Missense | Rare | Gain-of-function; increased channel open probability |
| c.1999C>T (p.Arg667Trp) | Missense | Rare | Loss-of-function; reduced surface expression |
| c.1645C>T (p.Arg549Cys) | Missense | Rare | Dominant-negative; impairs receptor trafficking |
| c.3571C>T (p.Arg1191*) | Nonsense | Very rare | Loss-of-function; premature truncation |
Mutation functional classification
Loss of Function (LOF)
Reduced channel conductance or surface expression; associated with epilepsy and intellectual disability.
Gain of Function (GOF)
Increased channel open probability or calcium influx; linked to neurodevelopmental disorders.
Dominant Negative (DN)
Mutant subunit disrupts assembly or function of wild-type receptors; severe phenotypes.
View complete mutation data：
Gene Ontology (GO)
| • NMDA glutamate receptor activity (GO:0004972) | • extracellular ligand-gated ion channel activity (GO:0005230) |
| • plasma membrane (GO:0005886) | • chemical synaptic transmission (GO:0007268) |
| • excitatory postsynaptic potential (GO:0060079) |
Pathways
• NMDA receptor activation (Reactome R-HSA-438066)
• Long-term potentiation (KEGG hsa04720)
• Glutamatergic synapse (KEGG hsa04724)
Protein Summary
The GluN2A protein (UniProt Q12879) is a 1464-amino acid subunit of the NMDA receptor. It contains an extracellular N-terminal domain, a ligand-binding domain for glutamate, four transmembrane domains (M1-M4), and an intracellular C-terminal tail involved in receptor trafficking and signaling. GluN2A confers high-conductance, fast-deactivation kinetics to NMDA receptors and is essential for synaptic plasticity. Post-translational modifications include phosphorylation by protein kinases (e.g., CaMKII, PKC) that modulate receptor function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GRIN2A Knockout HEK293 Cell Line | EDJ-KQ1220 | Human | 2903 | Details Get a Quote |
| GRIN2A Knockout HeLa Cell Line | EDJ-KQ53430 | Human | 2903 | Details Get a Quote |
| GRIN2A Knockout A-549 Cell Line | EDJ-KQ61906 | Human | 2903 | Details Get a Quote |
| GRIN2A Knockout HCT 116 Cell Line | EDJ-KQ70386 | Human | 2903 | Details Get a Quote |
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