GRM8
Homo sapiens
Gene Name: glutamate receptor, metabotropic 8
Aliases: GLUR8, mGlu8, GPRC1H, MGLUR8, FLJ41058, MGC126724
Chromosome No: 7
Chromosome Band: 7q31.33
Genetic Category: Genetic Association--Rare single gene variant-Functional
Aliases: GLUR8, mGlu8, GPRC1H, MGLUR8, FLJ41058, MGC126724
Chromosome No: 7
Chromosome Band: 7q31.33
Genetic Category: Genetic Association--Rare single gene variant-Functional
Summary Statistics:
ASD Reports: 11
Recent Reports: 1
Annotated variants: 14
Associated CNVs: 7
Evidence score: 2
ASD Reports: 11
Recent Reports: 1
Annotated variants: 14
Associated CNVs: 7
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
Genetic association has been found between the GRM8 gene and autism in an AGRE cohort (Serajee et al., 2003). However, no genetic association was found between GRM8 and autism in a Chinese Han population cohort.
Molecular Function
The encoded protein has glutamate, GABA-B-like receptor activity.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
The metabotropic glutamate receptor 8 gene at 7q31: partial duplication and possible association with autism.
ASD
Positive Association
Genome-wide copy number variation study associates metabotropic glutamate receptor gene networks with attention deficit hyperactivity disorder.
ADHD
Negative Association
The association analysis of RELN and GRM8 genes with autistic spectrum disorder in Chinese Han population.
ASD
Support
Loss-of-Function Models of the Metabotropic Glutamate Receptor Genes Grm8a and Grm8b Display Distinct Behavioral Phenotypes in Zebrafish Larvae ( Danio rerio)
Support
Mutational Landscape of Autism Spectrum Disorder Brain Tissue
ASD
Support
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
ASD
Support
Exome sequencing of ion channel genes reveals complex profiles confounding personal risk assessment in epilepsy.
Epilepsy
Highly Cited
Cloning and expression of rat metabotropic glutamate receptor 8 reveals a distinct pharmacological profile.
Recent Recommendation
Metabotropic glutamate receptor 8-expressing nerve terminals target subsets of GABAergic neurons in the hippocampus.
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
Common
Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
GEN113C002
3_prime_UTR_variant
rs712723
c.*29T>C;c.*84T>C
C>T
AGRE
Discovery
GEN113C004
copy_number_loss
Discovery: 1013 European ADHD cases from CHOP, 4105 healthy European controls; Replication: 2493 cases, 9222 controls
Discovery & Replication
