GRIK2
Glutamate Ionotropic Receptor Kainate Type Subunit 2
Gene Information Card
| Symbol | GRIK2 |
|---|---|
| Full Name | Glutamate Ionotropic Receptor Kainate Type Subunit 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 6q16.3 |
| NCBI Gene ID | 2898 ncbi.nlm.nih.gov/gene/2898 |
| Ensembl ID | ENSG00000164418 |
| UniProt ID | Q13002 |
| OMIM ID | 138244 |
| HGNC ID | 4580 |
| Aliases | GLUR6, MRT6, EAA4, GLR6 |
Description
GRIK2 encodes the GluK2 (formerly GluR6) subunit of kainate-type ionotropic glutamate receptors. These receptors mediate excitatory neurotransmission and are involved in synaptic plasticity, neurodevelopment, and neuronal cell death. GRIK2 is expressed predominantly in the brain, with highest levels in the hippocampus, cerebellum, and cerebral cortex. Mutations in GRIK2 are associated with autosomal recessive intellectual disability and autism spectrum disorder.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Autosomal recessive intellectual disability 6 (MRT6) | Loss-of-function mutations impair kainate receptor function, disrupting synaptic transmission and plasticity. | OMIM #611092 |
| Autism spectrum disorder | Missense and splice-site variants alter receptor trafficking or channel properties, contributing to neurodevelopmental phenotypes. | ClinVar, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Cerebral cortex | 12.3 | Medium |
| Hippocampus | 15.8 | High |
| Cerebellum | 14.2 | High |
| Amygdala | 10.1 | Medium |
| Spinal cord | 6.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 8.4 | Neuroblastoma cell line |
| U-87 MG | 3.2 | Glioblastoma cell line |
| HEK293 | 1.1 | Low endogenous expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1969C>T (p.Arg657Ter) | Nonsense | Rare | Loss of function; truncation of C-terminal domain |
| c.865G>A (p.Gly289Arg) | Missense | Rare | Impaired receptor trafficking and reduced surface expression |
| c.IVS7+1G>A | Splice-site | Rare | Exon skipping; frameshift and premature termination |
Mutation functional classification
Loss of Function (LOF)
Nonsense and splice-site mutations lead to truncated or absent GluK2 protein, reducing kainate receptor activity.
Gain of Function (GOF)
Not reported for GRIK2.
Dominant Negative (DN)
Some missense variants may interfere with assembly of functional heteromeric receptors.
View complete mutation data：
Gene Ontology (GO)
| • ionotropic glutamate receptor activity (GO:0004972) | • extracellular ligand-gated ion channel activity (GO:0005230) |
| • glutamate receptor signaling pathway (GO:0007215) | • ion transmembrane transport (GO:0034220) |
| • synapse (GO:0045202) | • plasma membrane (GO:0005886) |
Pathways
• KEGG hsa04724 – Glutamatergic synapse
• Reactome R-HSA-112314 – Neurotransmitter receptors and postsynaptic signal transmission
Protein Summary
GluK2 is a 908-amino acid transmembrane protein that assembles into homomeric or heteromeric kainate receptors. Each subunit contains an extracellular N-terminal domain, a ligand-binding domain, three transmembrane helices (M1, M3, M4), and a re-entrant pore loop (M2). The C-terminal domain interacts with intracellular scaffolding proteins. GluK2-containing receptors mediate fast excitatory postsynaptic currents and modulate neurotransmitter release.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GRIK2 Knockout HEK293 Cell Line | EDJ-KQ4791 | Human | 2898 | Details Get a Quote |
| GRIK2 Knockout HeLa Cell Line | EDJ-KQ27556 | Human | 2898 | Details Get a Quote |
| GRIK2 Knockout A-549 Cell Line | EDJ-KQ61902 | Human | 2898 | Details Get a Quote |
| GRIK2 Knockout HCT 116 Cell Line | EDJ-KQ70382 | Human | 2898 | Details Get a Quote |
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