GRIN2B
Glutamate Ionotropic Receptor NMDA Type Subunit 2B
Gene Information Card
| Symbol | GRIN2B |
|---|---|
| Full Name | Glutamate Ionotropic Receptor NMDA Type Subunit 2B |
| Gene Type | Protein coding |
| Chromosomal Location | 12p13.1 |
| NCBI Gene ID | 2904 ncbi.nlm.nih.gov/gene/2904 |
| Ensembl ID | ENSG00000273079 |
| UniProt ID | Q13224 |
| OMIM ID | 138252 |
| HGNC ID | 4586 |
| Aliases | NR2B, GluN2B, NMDAR2B |
Description
GRIN2B encodes the GluN2B subunit of the N-methyl-D-aspartate (NMDA) receptor, an ionotropic glutamate receptor critical for synaptic plasticity, learning, and memory. The receptor is a heterotetramer composed of two GluN1 and two GluN2 subunits; GluN2B is predominantly expressed in forebrain regions during development and adulthood. Mutations in GRIN2B are associated with neurodevelopmental disorders including intellectual disability, autism spectrum disorder, and epilepsy.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Intellectual disability, autosomal dominant 6 (MRD6) | Loss-of-function or dominant-negative variants impair NMDA receptor function, disrupting synaptic transmission and plasticity. | ClinVar, OMIM |
| Epileptic encephalopathy, early infantile, 27 (EIEE27) | Gain-of-function mutations increase channel open probability, leading to excitotoxicity and seizure susceptibility. | ClinVar, OMIM |
| Autism spectrum disorder (ASD) | Rare missense variants alter receptor trafficking or gating, contributing to synaptic imbalance. | ClinVar, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Cerebral cortex | 32.5 | High |
| Hippocampus | 28.1 | High |
| Cerebellum | 12.3 | Medium |
| Testis | 1.2 | Low |
| Liver | 0.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 15.4 | Neuroblastoma cell line |
| SK-N-SH | 12.8 | Neuroblastoma cell line |
| HEK293 | 0.3 | Low endogenous expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2444G>A (p.Arg815His) | Missense | <0.01% | Gain-of-function; increased channel open probability (ClinVar) |
| c.1638C>A (p.Asn546Lys) | Missense | <0.01% | Loss-of-function; reduced surface expression (ClinVar) |
| c.1A>G (p.Met1?) | Start loss | <0.01% | Loss-of-function; no protein production (ClinVar) |
Mutation functional classification
Loss of Function (LOF)
Reduced receptor activity due to impaired trafficking, decreased open probability, or abolished expression.
Gain of Function (GOF)
Increased channel open probability or prolonged opening, leading to excitotoxicity.
Dominant Negative (DN)
Mutant subunits co-assemble with wild-type subunits, impairing overall receptor function.
View complete mutation data：
Gene Ontology (GO)
| • NMDA glutamate receptor activity (GO:0004972) | • Extracellular ligand-gated ion channel activity (GO:0005230) |
| • Chemical synaptic transmission (GO:0007268) | • Plasma membrane (GO:0005886) |
| • Regulation of synaptic plasticity (GO:0048167) |
Pathways
• NMDA receptor activation (Reactome R-HSA-438066)
• Long-term potentiation (KEGG hsa04720)
• Neuroactive ligand-receptor interaction (KEGG hsa04080)
Protein Summary
The GluN2B protein (UniProt Q13224) is a 1484-amino acid transmembrane subunit of the NMDA receptor. It contains an extracellular N-terminal domain, a ligand-binding domain for glutamate, three transmembrane helices, and an intracellular C-terminal tail involved in receptor trafficking and signaling. GluN2B is essential for normal brain development and cognitive function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GRIN2B Knockout HEK293 Cell Line | EDJ-KQ668 | Human | 2904 | Details Get a Quote |
| GRIN2B Knockout A-549 Cell Line | EDJ-KQ20549 | Human | 2904 | Details Get a Quote |
| GRIN2B Knockout HCT 116 Cell Line | EDJ-KQ20550 | Human | 2904 | Details Get a Quote |
| GRIN2B Knockout HeLa Cell Line | EDJ-KQ53431 | Human | 2904 | Details Get a Quote |
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