GRIA4 Chromosome 11
Glutamate ionotropic receptor AMPA type subunit 4
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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. These receptors are heteromeric protein complexes composed of multiple subunits, arranged to form ligand-gated ion channels. The classification of glutamate receptors is based on their activation by different pharmacologic agonists. The subunit encoded by this gene belongs to a family of AMPA (alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate)-sensitive glutamate receptors, and is subject to RNA editing (AGA->GGA; R->G). Alternative splicing of this gene results in transcript variants encoding different isoforms, which may vary in their signal transduction properties. Some haplotypes of this gene show a positive association with schizophrenia. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Glutamate ionotropic receptor AMPA type subunits
Locus Type
gene with protein product
Location
11q22.3
Ensembl
ENSG00000152578
Associated Conditions (6)
Inborn genetic diseases
Neurodevelopmental disorder with or without seizures and gait abnormalities
GRIA4-related disorder
Intellectual disability
Obesity
See cases
Key Variants
RS200205997
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS370731374
Conflicting classifications of pathogenicity
Inborn genetic diseases, Neurodevelopmental disorder with or without seizures and gait abnormalities, Inborn genetic diseases
Health Risk
RS752387055
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS765658446
Conflicting classifications of pathogenicity
GRIA4-related disorder, Inborn genetic diseases, GRIA4-related disorder
Health Risk
RS1555050165
Likely pathogenic
Neurodevelopmental disorder with or without seizures and gait abnormalities, Inborn genetic diseases, Intellectual disability
Health Risk
RS1555050174
Likely pathogenic
Neurodevelopmental disorder with or without seizures and gait abnormalities, Intellectual disability, Neurodevelopmental disorder with or without seizures and gait abnormalities
Health Risk
RS1591461970
Likely pathogenic
Obesity, Obesity
Health Risk
RS2136198918
Likely pathogenic
Neurodevelopmental disorder with or without seizures and gait abnormalities, See cases, Neurodevelopmental disorder with or without seizures and gait abnormalities
Health Risk
RS2497083502
Likely pathogenic
See cases, See cases
Health Risk
RS2497581517
Likely pathogenic
Neurodevelopmental disorder with or without seizures and gait abnormalities, Neurodevelopmental disorder with or without seizures and gait abnormalities
Health Risk
RS765556214
Pathogenic
Neurodevelopmental disorder with or without seizures and gait abnormalities, Intellectual disability, Neurodevelopmental disorder with or without seizures and gait abnormalities
Health Risk
RS1555050158
Pathogenic/Likely pathogenic
Neurodevelopmental disorder with or without seizures and gait abnormalities, Intellectual disability, Neurodevelopmental disorder with or without seizures and gait abnormalities
Health Risk
All Variants (13)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS200205997 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS370731374 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Neurodevelopmental disorder with or without seizures and gait abnormalities, Inborn genetic diseases |
| RS752387055 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS765658446 | Health Risk | Conflicting classifications of pathogenicity | GRIA4-related disorder, Inborn genetic diseases, GRIA4-related disorder |
| RS1555050165 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with or without seizures and gait abnormalities, Inborn genetic diseases, Intellectual disability |
| RS1555050174 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with or without seizures and gait abnormalities, Intellectual disability, Neurodevelopmental disorder with or without seizures and gait abnormalities |
| RS1591461970 | Health Risk | Likely pathogenic | Obesity, Obesity |
| RS2136198918 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with or without seizures and gait abnormalities, See cases, Neurodevelopmental disorder with or without seizures and gait abnormalities |
| RS2497083502 | Health Risk | Likely pathogenic | See cases, See cases |
| RS2497581517 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with or without seizures and gait abnormalities, Neurodevelopmental disorder with or without seizures and gait abnormalities |
| RS765556214 | Health Risk | Pathogenic | Neurodevelopmental disorder with or without seizures and gait abnormalities, Intellectual disability, Neurodevelopmental disorder with or without seizures and gait abnormalities |
| RS1555050158 | Health Risk | Pathogenic/Likely pathogenic | Neurodevelopmental disorder with or without seizures and gait abnormalities, Intellectual disability, Neurodevelopmental disorder with or without seizures and gait abnormalities |
| RS1555050171 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, Neurodevelopmental disorder with or without seizures and gait abnormalities, Intellectual disability |