GRIN3A
Glutamate Ionotropic Receptor NMDA Type Subunit 3A
Gene Information Card
| Symbol | GRIN3A |
|---|---|
| Full Name | Glutamate Ionotropic Receptor NMDA Type Subunit 3A |
| Gene Type | protein-coding |
| Chromosomal Location | 9q31.1 |
| NCBI Gene ID | 116443 ncbi.nlm.nih.gov/gene/116443 |
| Ensembl ID | ENSG00000198785 |
| UniProt ID | Q8TCU5 |
| OMIM ID | 606650 |
| HGNC ID | 19677 |
| Aliases | GluN3A, NMDAR-L, NR3A |
Description
GRIN3A encodes the GluN3A subunit of the N-methyl-D-aspartate (NMDA) receptor, an ionotropic glutamate receptor. GluN3A forms heteromeric channels with GluN1 and GluN2 subunits, modulating calcium permeability and receptor trafficking. It plays a critical role in synaptic development, plasticity, and excitatory neurotransmission. Altered expression is implicated in schizophrenia, intellectual disability, and other neuropsychiatric disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Schizophrenia | Reduced GRIN3A expression may disrupt NMDA receptor signaling, contributing to glutamatergic hypofunction | Association studies and postmortem brain analyses |
| Intellectual Disability | Loss-of-function variants impair synaptic maturation and plasticity | Rare variant studies in patient cohorts |
| Bipolar Disorder | Dysregulation of GluN3A alters synaptic connectivity | GWAS and expression profiling |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Cerebral Cortex | 15.2 | Medium |
| Hippocampus | 18.7 | Medium |
| Cerebellum | 8.3 | Low |
| Spinal Cord | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 10.5 | Neuroblastoma cell line |
| U-87 MG | 6.2 | Glioblastoma cell line |
| HEK293 | 2.1 | Low endogenous expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1681C>T (p.Arg561Trp) | Missense | <0.01% | Reduced receptor surface expression |
| c.2140G>A (p.Gly714Arg) | Missense | <0.01% | Impaired channel function |
| c.2452C>T (p.Arg818*) | Nonsense | <0.01% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and missense variants that reduce protein expression or channel activity
Gain of Function (GOF)
Not reported
Dominant Negative (DN)
Some missense variants may exert dominant-negative effects by disrupting heteromeric assembly
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) | • neurotransmitter receptor activity (GO:0030594) |
| • chemical synaptic transmission (GO:0007268) | • excitatory postsynaptic potential (GO:0060079) |
Pathways
• UniProt: Glutamatergic synapse
• Reactome: Neurotransmitter receptor binding and downstream transmission
• KEGG: hsa04724 – Glutamatergic synapse
Protein Summary
GluN3A is a 1,115-amino-acid transmembrane protein with an extracellular N-terminal domain, a ligand-binding domain, and four transmembrane helices (M1-M4). It forms NMDA receptor complexes that modulate calcium flux and synaptic signaling. Unlike GluN2 subunits, GluN3A reduces calcium permeability and promotes receptor internalization, influencing synaptic pruning during development.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GRIN3A Knockout HEK293 Cell Line | EDJ-KQ1814 | Human | 116443 | Details Get a Quote |
| GRIN3A Knockout HeLa Cell Line | EDJ-KQ57987 | Human | 116443 | Details Get a Quote |
| GRIN3A Knockout A-549 Cell Line | EDJ-KQ66473 | Human | 116443 | Details Get a Quote |
| GRIN3A Knockout HCT 116 Cell Line | EDJ-KQ74896 | Human | 116443 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
