GRIA3 Chromosome X
Glutamate ionotropic receptor AMPA type subunit 3
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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 at this locus results in different isoforms, which may vary in their signal transduction properties. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Glutamate ionotropic receptor AMPA type subunits
Locus Type
gene with protein product
Location
Xq25
Ensembl
ENSG00000125675
Associated Conditions (16)
Inborn genetic diseases
Syndromic X-linked intellectual disability 94
History of neurodevelopmental disorder
Neurodevelopmental disorder
Intellectual disability
Neurodevelopmental abnormality
GRIA3-related disorder
Thyroid cancer
nonmedullary
1
Epileptic encephalopathy
7 conditions
Global developmental delay
Disrupted sleep-wake cycle with developmental delay and learning difficulty
GRIA3-related complex neurodevelopmental disorder
Seizure
Key Variants
RS1167058263
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1193723455
Conflicting classifications of pathogenicity
Syndromic X-linked intellectual disability 94, Syndromic X-linked intellectual disability 94
Health Risk
RS1267207491
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1351256820
Conflicting classifications of pathogenicity
Health Risk
RS138419523
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1392959973
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS140014006
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS144902457
Conflicting classifications of pathogenicity
Syndromic X-linked intellectual disability 94, Syndromic X-linked intellectual disability 94
Health Risk
RS146022384
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS151086692
Conflicting classifications of pathogenicity
History of neurodevelopmental disorder, History of neurodevelopmental disorder
Health Risk
RS1556334045
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1569442989
Conflicting classifications of pathogenicity
Syndromic X-linked intellectual disability 94, Neurodevelopmental disorder, Syndromic X-linked intellectual disability 94
Health Risk
All Variants (64)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS137852351 | Health Risk | Pathogenic | Syndromic X-linked intellectual disability 94, Syndromic X-linked intellectual disability 94 |
| RS137852352 | Health Risk | Pathogenic | Syndromic X-linked intellectual disability 94, Syndromic X-linked intellectual disability 94 |
| RS140908982 | Health Risk | Pathogenic | Syndromic X-linked intellectual disability 94, Syndromic X-linked intellectual disability 94 |
| RS2147384890 | Health Risk | Pathogenic | Syndromic X-linked intellectual disability 94, Syndromic X-linked intellectual disability 94 |
| RS2147401079 | Health Risk | Pathogenic | GRIA3-related complex neurodevelopmental disorder, GRIA3-related complex neurodevelopmental disorder |
| RS2147401116 | Health Risk | Pathogenic | Syndromic X-linked intellectual disability 94, Syndromic X-linked intellectual disability 94 |
| RS2521169015 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2521208825 | Health Risk | Pathogenic | — |
| RS2521237781 | Health Risk | Pathogenic | — |
| RS2521333750 | Health Risk | Pathogenic | Syndromic X-linked intellectual disability 94, Syndromic X-linked intellectual disability 94 |
| RS139990565 | Health Risk | Pathogenic/Likely pathogenic | Syndromic X-linked intellectual disability 94, Thyroid cancer, nonmedullary |
| RS2147383715 | Health Risk | Pathogenic/Likely pathogenic | Syndromic X-linked intellectual disability 94, Inborn genetic diseases, Syndromic X-linked intellectual disability 94 |
| RS2521237559 | Health Risk | Pathogenic/Likely pathogenic | Syndromic X-linked intellectual disability 94, Syndromic X-linked intellectual disability 94 |
| RS587777361 | Health Risk | Pathogenic/Likely pathogenic | Syndromic X-linked intellectual disability 94, Intellectual disability, Seizure |