GRIN3B
Glutamate Ionotropic Receptor NMDA Type Subunit 3B
Gene Information Card
| Symbol | GRIN3B |
|---|---|
| Full Name | Glutamate Ionotropic Receptor NMDA Type Subunit 3B |
| Gene Type | protein-coding |
| Chromosomal Location | 19p13.3 |
| NCBI Gene ID | 116444 ncbi.nlm.nih.gov/gene/116444 |
| Ensembl ID | ENSG00000116032 |
| UniProt ID | O60391 |
| OMIM ID | 606651 |
| HGNC ID | 16768 |
| Aliases | NR3B, GluN3B, NMDAR3B |
Description
GRIN3B encodes a subunit of the N-methyl-D-aspartate (NMDA) receptor, an ionotropic glutamate receptor. The GluN3B subunit (formerly NR3B) modulates receptor activity by reducing calcium permeability and altering channel gating. It is predominantly expressed in motor neurons and plays a role in synaptic plasticity, motor control, and neurodevelopment.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Schizophrenia | Altered NMDA receptor signaling; GRIN3B variants may affect glutamatergic transmission | PMID: 21926971 |
| Amyotrophic Lateral Sclerosis (ALS) | Motor neuron-specific expression; potential involvement in excitotoxicity | PMID: 17641098 |
| Intellectual Disability | Loss-of-function mutations impair synaptic function | ClinVar: VCV000013453 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Spinal Cord | 12.5 | Medium |
| Brain - Cerebellum | 8.3 | Low |
| Brain - Cortex | 6.1 | Low |
| Testis | 4.2 | Low |
| Skeletal Muscle | 2.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 5.0 | Neuroblastoma cell line |
| U-87 MG | 3.2 | Glioblastoma cell line |
| HEK 293 | 1.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1700C>T (p.Pro567Leu) | Missense | <0.01% | Reduced receptor function; associated with intellectual disability |
| c.2236G>A (p.Val746Met) | Missense | <0.01% | Altered channel properties; reported in schizophrenia |
Mutation functional classification
Loss of Function (LOF)
Missense variants (e.g., p.Pro567Leu) reduce NMDA receptor activity and calcium flux.
Gain of Function (GOF)
Not well characterized; some variants may enhance receptor desensitization.
Dominant Negative (DN)
Not reported for GRIN3B.
View complete mutation data：
Gene Ontology (GO)
| • NMDA glutamate receptor activity (GO:0004972) | • extracellularly glutamate-gated ion channel activity (GO:0005234) |
| • plasma membrane (GO:0005886) | • ion transmembrane transport (GO:0034220) |
| • excitatory postsynaptic potential (GO:0060079) |
Pathways
• UniProt: Glutamatergic synapse
• Reactome: R-HSA-438066 – Unblocking of NMDA receptor
• KEGG: hsa04724 – Glutamatergic synapse
Protein Summary
The GluN3B protein is a 1003-amino acid subunit of the NMDA receptor. It contains an extracellular N-terminal domain, a ligand-binding domain, three transmembrane helices, and an intracellular C-terminal tail. Unlike GluN1 and GluN2 subunits, GluN3B forms glycine-binding sites and reduces calcium permeability when assembled into heteromeric receptors. It is highly expressed in motor neurons and modulates synaptic transmission.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GRIN3B Knockout HEK293 Cell Line | EDJ-KQ1135 | Human | 116444 | Details Get a Quote |
| GRIN3B Knockout HeLa Cell Line | EDJ-KQ57988 | Human | 116444 | Details Get a Quote |
| GRIN3B Knockout A-549 Cell Line | EDJ-KQ66474 | Human | 116444 | Details Get a Quote |
| GRIN3B Knockout HCT 116 Cell Line | EDJ-KQ74897 | Human | 116444 | Details Get a Quote |
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