GRID2
Homo sapiens
Gene Name: glutamate receptor, ionotropic, delta 2
Aliases: MGC117022, MGC117023, MGC117024
Chromosome No: 4
Chromosome Band: 4q22.1-q22.2
Genetic Category: Rare Single Gene variant-Syndromic-Genetic association
Aliases: MGC117022, MGC117023, MGC117024
Chromosome No: 4
Chromosome Band: 4q22.1-q22.2
Genetic Category: Rare Single Gene variant-Syndromic-Genetic association
Summary Statistics:
ASD Reports: 11
Recent Reports: 2
Annotated variants: 25
Associated CNVs: 7
Evidence score: 2
ASD Reports: 11
Recent Reports: 2
Annotated variants: 25
Associated CNVs: 7
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
Rare mutations in the GRID2 gene have been identified with ASD (Schaaf et al., 2011). In particular, that study found two non-synonymous SNPs in GRID2 in 3 of 339 individuals with ASD.
Molecular Function
Human glutamate receptor delta-2 (GRID2) is a relatively new member of the family of ionotropic glutamate receptors which are the predominant excitatory neurotransmitter receptors in the mammalian brain. GRID2 is a predicted 1,007 amino acid protein that shares 97% identity with the mouse homolog which is expressed selectively in cerebellar Purkinje cells. GRID2 is strongly suggested to have a role in neuronal apoptotic death.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Oligogenic heterozygosity in individuals with high-functioning autism spectrum disorders.
ASD
Positive Association
Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with ...
ASD
Support
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
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
Support
Mutational Landscape of Autism Spectrum Disorder Brain Tissue
ASD
Support
Neurodevelopmental Syndrome with Intellectual Disability, Speech Impairment, and Quadrupedia Is Associated with Glutamate Receptor Delta 2 Gene Defect
DD, ID, epilepsy/seizures
Support
Identification of genetic causes of congenital neurodevelopmental disorders using genome wide molecular technologies.
ASD, DD
Support
Synaptic, transcriptional and chromatin genes disrupted in autism.
ASD
Recent Recommendation
Deletions in GRID2 lead to a recessive syndrome of cerebellar ataxia and tonic upgaze in humans.
DD, ID
Recent Recommendation
A homozygous deletion in GRID2 causes a human phenotype with cerebellar ataxia and atrophy.
DD
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
GEN283C001
intron_variant
rs6854329
c.244+85419G>C
7387 ASD cases and 8567 controls from Autism Center of Excellence Network (ACE), Autism Genetic Resource Exchange (AGRE), Autism Genome Project (AGP), Finnish Case-Control ASD Collection, NIMH Repository and Montreal/Boston (MonBos) Collection, Population-Based Autism Genetics and Environment Study (PAGES), Simons Simplex Collection (SSC), and Weiss Laboratory Autism Collection
Discovery
GEN283C002
intron_variant
rs6811974
c.245-47461T>C;c.245-21708T>C;c.281-21708T>C
7387 ASD cases and 8567 controls from Autism Center of Excellence Network (ACE), Autism Genetic Resource Exchange (AGRE), Autism Genome Project (AGP), Finnish Case-Control ASD Collection, NIMH Repository and Montreal/Boston (MonBos) Collection, Population-Based Autism Genetics and Environment Study (PAGES), Simons Simplex Collection (SSC), and Weiss Laboratory Autism Collection
Discovery
