GRIA2 Chromosome 4
Glutamate ionotropic receptor AMPA type subunit 2
Upload your DNA to see your personal genotypes for variants in GRIA2.
What This Gene Does
Glutamate receptors are the predominant excitatory neurotransmitter receptors in the mammalian brain and are activated in a variety of normal neurophysiologic processes. This gene product belongs to a family of glutamate receptors that are sensitive to alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate (AMPA), and function as ligand-activated cation channels. These channels are assembled from 4 related subunits, GRIA1-4. The subunit encoded by this gene (GRIA2) is subject to RNA editing (CAG->CGG; Q->R) within the second transmembrane domain, which is thought to render the channel impermeable to Ca(2+). Human and animal studies suggest that pre-mRNA editing is essential for brain function, and defective GRIA2 RNA editing at the Q/R site may be relevant to amyotrophic lateral sclerosis (ALS) etiology. Alternative splicing, resulting in transcript variants encoding different isoforms, (including the flip and flop isoforms that vary in their signal transduction properties), has been noted for this gene. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Glutamate ionotropic receptor AMPA type subunits
Locus Type
gene with protein product
Location
4q32.1
Ensembl
ENSG00000120251
Associated Conditions (3)
Neurodevelopmental disorder with language impairment and behavioral abnormalities
Neurodevelopmental delay
Inborn genetic diseases
Key Variants
RS1553956958
Conflicting classifications of pathogenicity
Neurodevelopmental disorder with language impairment and behavioral abnormalities, Neurodevelopmental disorder with language impairment and behavioral abnormalities
Health Risk
RS143505003
Likely pathogenic
Neurodevelopmental disorder with language impairment and behavioral abnormalities, Neurodevelopmental disorder with language impairment and behavioral abnormalities
Health Risk
RS1579377564
Likely pathogenic
Neurodevelopmental disorder with language impairment and behavioral abnormalities, Neurodevelopmental disorder with language impairment and behavioral abnormalities
Health Risk
RS1735116193
Likely pathogenic
Neurodevelopmental disorder with language impairment and behavioral abnormalities, Neurodevelopmental disorder with language impairment and behavioral abnormalities
Health Risk
RS1735294501
Likely pathogenic
Neurodevelopmental disorder with language impairment and behavioral abnormalities, Neurodevelopmental disorder with language impairment and behavioral abnormalities
Health Risk
RS1735303754
Likely pathogenic
Neurodevelopmental disorder with language impairment and behavioral abnormalities, Neurodevelopmental disorder with language impairment and behavioral abnormalities
Health Risk
RS1736569883
Likely pathogenic
Neurodevelopmental disorder with language impairment and behavioral abnormalities, Neurodevelopmental disorder with language impairment and behavioral abnormalities
Health Risk
RS2126940142
Likely pathogenic
Neurodevelopmental disorder with language impairment and behavioral abnormalities, Neurodevelopmental disorder with language impairment and behavioral abnormalities
Health Risk
RS2126940512
Likely pathogenic
Neurodevelopmental disorder with language impairment and behavioral abnormalities, Neurodevelopmental disorder with language impairment and behavioral abnormalities
Health Risk
RS2126951773
Likely pathogenic
Neurodevelopmental disorder with language impairment and behavioral abnormalities, Neurodevelopmental disorder with language impairment and behavioral abnormalities
Health Risk
RS2126951829
Likely pathogenic
Neurodevelopmental disorder with language impairment and behavioral abnormalities, Neurodevelopmental disorder with language impairment and behavioral abnormalities
Health Risk
RS2127000716
Likely pathogenic
Neurodevelopmental delay, Neurodevelopmental delay
Health Risk
All Variants (32)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1553956958 | Health Risk | Conflicting classifications of pathogenicity | Neurodevelopmental disorder with language impairment and behavioral abnormalities, Neurodevelopmental disorder with language impairment and behavioral abnormalities |
| RS143505003 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with language impairment and behavioral abnormalities, Neurodevelopmental disorder with language impairment and behavioral abnormalities |
| RS1579377564 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with language impairment and behavioral abnormalities, Neurodevelopmental disorder with language impairment and behavioral abnormalities |
| RS1735116193 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with language impairment and behavioral abnormalities, Neurodevelopmental disorder with language impairment and behavioral abnormalities |
| RS1735294501 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with language impairment and behavioral abnormalities, Neurodevelopmental disorder with language impairment and behavioral abnormalities |
| RS1735303754 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with language impairment and behavioral abnormalities, Neurodevelopmental disorder with language impairment and behavioral abnormalities |
| RS1736569883 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with language impairment and behavioral abnormalities, Neurodevelopmental disorder with language impairment and behavioral abnormalities |
| RS2126940142 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with language impairment and behavioral abnormalities, Neurodevelopmental disorder with language impairment and behavioral abnormalities |
| RS2126940512 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with language impairment and behavioral abnormalities, Neurodevelopmental disorder with language impairment and behavioral abnormalities |
| RS2126951773 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with language impairment and behavioral abnormalities, Neurodevelopmental disorder with language impairment and behavioral abnormalities |
| RS2126951829 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with language impairment and behavioral abnormalities, Neurodevelopmental disorder with language impairment and behavioral abnormalities |
| RS2127000716 | Health Risk | Likely pathogenic | Neurodevelopmental delay, Neurodevelopmental delay |
| RS2127000861 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with language impairment and behavioral abnormalities, Neurodevelopmental disorder with language impairment and behavioral abnormalities |
| RS2127004544 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with language impairment and behavioral abnormalities, Inborn genetic diseases, Neurodevelopmental disorder with language impairment and behavioral abnormalities |
| RS2127004559 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with language impairment and behavioral abnormalities, Neurodevelopmental disorder with language impairment and behavioral abnormalities |
| RS2530690874 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with language impairment and behavioral abnormalities, Neurodevelopmental disorder with language impairment and behavioral abnormalities |
| RS2530754438 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with language impairment and behavioral abnormalities, Neurodevelopmental disorder with language impairment and behavioral abnormalities |
| RS2530775606 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with language impairment and behavioral abnormalities, Neurodevelopmental disorder with language impairment and behavioral abnormalities |
| RS2530775670 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with language impairment and behavioral abnormalities, Neurodevelopmental disorder with language impairment and behavioral abnormalities |
| RS2530775821 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with language impairment and behavioral abnormalities, Neurodevelopmental disorder with language impairment and behavioral abnormalities |
| RS2530853195 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with language impairment and behavioral abnormalities, Neurodevelopmental disorder with language impairment and behavioral abnormalities |
| RS538981621 | Health Risk | Likely pathogenic | Neurodevelopmental delay, Neurodevelopmental delay |
| RS761753966 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with language impairment and behavioral abnormalities, Neurodevelopmental disorder with language impairment and behavioral abnormalities |
| RS1579377586 | Health Risk | Pathogenic | Neurodevelopmental disorder with language impairment and behavioral abnormalities, Neurodevelopmental disorder with language impairment and behavioral abnormalities |
| RS1734386587 | Health Risk | Pathogenic | Neurodevelopmental disorder with language impairment and behavioral abnormalities, Neurodevelopmental disorder with language impairment and behavioral abnormalities |
| RS2126866545 | Health Risk | Pathogenic | Neurodevelopmental disorder with language impairment and behavioral abnormalities, Neurodevelopmental disorder with language impairment and behavioral abnormalities |
| RS2126885680 | Health Risk | Pathogenic | Neurodevelopmental disorder with language impairment and behavioral abnormalities, Neurodevelopmental disorder with language impairment and behavioral abnormalities |
| RS2126951757 | Health Risk | Pathogenic | Neurodevelopmental disorder with language impairment and behavioral abnormalities, Neurodevelopmental disorder with language impairment and behavioral abnormalities |
| RS2127000875 | Health Risk | Pathogenic | Neurodevelopmental disorder with language impairment and behavioral abnormalities, Neurodevelopmental disorder with language impairment and behavioral abnormalities, Neurodevelopmental disorder with language impairment and behavioral abnormalities |
| RS2530754055 | Health Risk | Pathogenic | Neurodevelopmental disorder with language impairment and behavioral abnormalities, Neurodevelopmental disorder with language impairment and behavioral abnormalities |
| RS2530853550 | Health Risk | Pathogenic | Neurodevelopmental disorder with language impairment and behavioral abnormalities, Neurodevelopmental disorder with language impairment and behavioral abnormalities |
| RS765072736 | Health Risk | Pathogenic | Neurodevelopmental disorder with language impairment and behavioral abnormalities, Neurodevelopmental disorder with language impairment and behavioral abnormalities |