GRM8: Glutamate Metabotropic Receptor 8
A comprehensive guide to GRM8 gene, its function, expression, and associated diseases.
Gene Information Card
| Symbol | GRM8 |
|---|---|
| Full Name | Glutamate Metabotropic Receptor 8 |
| Gene Type | Protein coding |
| Chromosomal Location | 7q31.33 |
| NCBI Gene ID | 2918 ncbi.nlm.nih.gov/gene/2918 |
| Ensembl ID | ENSG00000105819 |
| UniProt ID | O00222 |
| OMIM ID | 601116 |
| HGNC ID | 4600 |
| Aliases | GLUR8, GPRC1H, MGLUR8, mGlu8 |
Description
GRM8 encodes a member of the G protein-coupled receptor family, specifically group III metabotropic glutamate receptors. The receptor functions as a presynaptic autoreceptor, modulating neurotransmitter release by inhibiting adenylyl cyclase via Gi/Go proteins. It is involved in synaptic plasticity, learning, and memory.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Schizophrenia | Altered glutamatergic signaling; GRM8 variants may affect synaptic transmission | PMID: 19012866 |
| Bipolar Disorder | Association with GRM8 polymorphisms in linkage studies | PMID: 16936799 |
| Major Depressive Disorder | Dysregulation of glutamate signaling; GRM8 implicated in mood regulation | PMID: 20064346 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Cerebellum | 8.2 | Medium |
| Cerebral Cortex | 5.1 | Low |
| Hippocampus | 4.8 | Low |
| Testis | 3.5 | Low |
| Retina | 2.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 2.1 | Neuroblastoma cell line |
| U-87 MG | 1.5 | Glioblastoma cell line |
| HEK 293 | 0.8 | Low expression |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.233C>T (p.Thr78Ile) | Missense | <0.01% | Unknown functional impact |
| c.1054G>A (p.Val352Met) | Missense | <0.01% | Potential altered receptor activity |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported.
View complete mutation data:
Gene Ontology (GO)
| • G protein-coupled receptor activity | • glutamate receptor activity |
| • synaptic transmission | • glutamatergic |
| • adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway | • presynaptic membrane |
Pathways
• Glutamatergic synapse
• Neuroactive ligand-receptor interaction
• cAMP signaling pathway
Protein Summary
The GRM8 protein (mGluR8) is a 908-amino acid transmembrane receptor with a large extracellular N-terminal domain for glutamate binding, seven transmembrane helices, and an intracellular C-terminal tail. It couples to Gi/Go proteins to inhibit cAMP production and modulate presynaptic neurotransmitter release.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GRM8 Knockout HEK293 Cell Line | EDJ-KQ1720 | Human | 2918 | Details Get a Quote |
| GRM8 Knockout HeLa Cell Line | EDJ-KQ53442 | Human | 2918 | Details Get a Quote |
| GRM8 Knockout A-549 Cell Line | EDJ-KQ61916 | Human | 2918 | Details Get a Quote |
| GRM8 Knockout HCT 116 Cell Line | EDJ-KQ70396 | Human | 2918 | Details Get a Quote |
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