GRIK5 (Glutamate Ionotropic Receptor Kainate Type Subunit 5)
A kainate-type glutamate receptor subunit involved in synaptic transmission and neurodevelopment
Gene Information Card
| Symbol | GRIK5 |
|---|---|
| Full Name | Glutamate Ionotropic Receptor Kainate Type Subunit 5 |
| Gene Type | protein-coding |
| Chromosomal Location | 19q13.2 |
| NCBI Gene ID | 2901 ncbi.nlm.nih.gov/gene/2901 |
| Ensembl ID | ENSG00000105737 |
| UniProt ID | Q16478 |
| OMIM ID | 600282 |
| HGNC ID | 4583 |
| Aliases | GluK5, EAA2, GRIK5-1, GRIK5-2 |
Description
GRIK5 encodes the GluK5 subunit of kainate-type ionotropic glutamate receptors. These receptors mediate excitatory neurotransmission and are involved in synaptic plasticity, learning, and memory. GluK5 assembles with other kainate receptor subunits (GluK1-4) to form functional channels. The gene is expressed predominantly in the central nervous system, with highest levels in the hippocampus, cortex, and cerebellum.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Schizophrenia | Altered glutamatergic signaling; GRIK5 variants may affect receptor function and synaptic transmission | Case-control studies; GWAS associations (PMID: 20468064) |
| Bipolar Disorder | Dysregulation of glutamate receptor expression; GRIK5 polymorphisms linked to disease risk | Genetic association studies (PMID: 21829566) |
| Epilepsy | GRIK5 mutations may alter neuronal excitability and seizure susceptibility | Rare variant studies (ClinVar) |
| Autism Spectrum Disorder | Disrupted kainate receptor signaling affecting synaptic development | Exome sequencing studies (PMID: 25363760) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebral cortex) | 12.5 | Medium |
| Hippocampus | 18.3 | High |
| Cerebellum | 9.8 | Medium |
| Spinal cord | 6.2 | Low |
| Testis | 1.5 | Not detected |
| Heart | 0.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.2 | Neuronal model |
| U-87 MG (glioblastoma) | 8.4 | Glial model |
| HEK293 (embryonic kidney) | 0.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Trp) | Missense | <0.01% | Reduced receptor trafficking (ClinVar) |
| c.567G>A (p.Trp189*) | Nonsense | <0.001% | Loss of function (COSMIC) |
| c.890A>G (p.Asn297Ser) | Missense | 0.02% | Altered ligand binding (UniProt) |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated protein or nonsense-mediated decay.
Gain of Function (GOF)
Not well characterized; some missense variants may increase channel activity.
Dominant Negative (DN)
Missense mutations that impair assembly with wild-type subunits.
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) | • synaptic transmission (GO:0035249) |
| • synapse (GO:0045202) | • plasma membrane (GO:0005886) |
Pathways
• KEGG: hsa04724 – Glutamatergic synapse
• Reactome: R-HSA-112314 – Neurotransmitter receptors and postsynaptic signal transmission
• Reactome: R-HSA-399719 – Trafficking of AMPA receptors
Protein Summary
GluK5 is a 919-amino acid transmembrane protein with an extracellular N-terminal domain, a ligand-binding domain, and a C-terminal intracellular region. It functions as a subunit of kainate receptors, which are tetrameric ion channels. GluK5 does not form functional homomeric channels but co-assembles with GluK1-4 to modulate channel properties. The protein is involved in synaptic plasticity and neuronal development.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GRIK5 Knockout HEK293 Cell Line | EDJ-KQ4799 | Human | 2901 | Details Get a Quote |
| GRIK5 Knockout A-549 Cell Line | EDJ-KQ27566 | Human | 2901 | Details Get a Quote |
| GRIK5 Knockout HeLa Cell Line | EDJ-KQ53428 | Human | 2901 | Details Get a Quote |
| GRIK5 Knockout HCT 116 Cell Line | EDJ-KQ70385 | Human | 2901 | Details Get a Quote |
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