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.

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 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
Displaying Records 1 To 4 Of 4 Records
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