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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
GRIA3
glutamate ionotropic receptor AMPA type subunit 3
Chromosome X Β· Xq25
NCBI Gene: 2892Ensembl: ENSG00000125675.20HGNC: HGNC:4573UniProt: P42263
91PubMed Papers
21Diseases
14Drugs
40Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedIon ChannelReceptorTransporter
CLINICAL
FDA Approved TargetOMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein homotetramerizationligand-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potentialAMPA glutamate receptor activityplasma membranesyndromic X-linked intellectual disability 94Seizureepilepsymigraine disorder
✦AI Summary

GRIA3 encodes an AMPA-type ionotropic glutamate receptor subunit that mediates fast excitatory neurotransmission in the central nervous system 1. The receptor functions as a ligand-gated cation channel activated by glutamate, which induces conformational changes leading to calcium influx and conversion of chemical signals to electrical impulses 1. GRIA3 is unique among AMPA receptor subunits for being X-chrX located, making it clinically significant for sex-dependent inheritance patterns 1. GRIA3 variants cause diverse neurodevelopmental disorders with distinct phenotypes depending on functional consequence: loss-of-function variants associate with hypotonia, older seizure onset (median 16 months), and sleep disturbances, while gain-of-function variants cause hypertonia, earlier seizure onset (median 1 month), and movement disorders including hyperekplexia 1. Ultra-rare coding variants in GRIA3 confer substantial schizophrenia risk (odds ratios 3-50), supporting glutamatergic system dysfunction as a pathogenic mechanism 2. GRIA3 variants are implicated in developmental and epileptic encephalopathy 3, with clinical presentation ranging from seizures to developmental encephalopathy without seizures 1. The gene's role in excitatory synaptic transmission and long-term potentiation underlies its involvement in intellectual disability and neurodevelopmental phenotypes 1.

Sources cited
1
GRIA3 encodes AMPA receptor subunit mediating fast excitatory neurotransmission; glutamate binding opens cation channel allowing calcium entry; loss-of-function and gain-of-function variants cause distinct neurodevelopmental phenotypes with different seizure onset ages and motor features
PMID: 38038360
2
Ultra-rare coding variants in GRIA3 confer substantial schizophrenia risk (odds ratios 3-50); implicates glutamatergic system dysfunction in schizophrenia pathogenesis
PMID: 35396579
3
GRIA3 variants are associated with X-linked epilepsy syndromes and developmental and epileptic encephalopathies
PMID: 38612920
4
GRIA3 dysfunction associates with abnormal memory formation, learning difficulties, and developmental and epileptic encephalopathy; de novo missense variants reported in pediatric patients
PMID: 35093607
5
GRIA3 gain-of-function variants cause developmental delay, cognitive impairment, hypertonia, cerebral palsy, non-epileptic myoclonus, and treatment-resistant epilepsy
PMID: 40391499
Disease Associationsβ“˜21
syndromic X-linked intellectual disability 94Open Targets
0.79Strong
SeizureOpen Targets
0.67Moderate
epilepsyOpen Targets
0.61Moderate
migraine disorderOpen Targets
0.60Moderate
alcohol dependenceOpen Targets
0.56Moderate
genetic disorderOpen Targets
0.51Moderate
Lennox-Gastaut syndromeOpen Targets
0.51Moderate
partial epilepsyOpen Targets
0.50Moderate
Intellectual disabilityOpen Targets
0.45Moderate
diabetic neuropathyOpen Targets
0.42Moderate
obesityOpen Targets
0.40Moderate
Parkinson diseaseOpen Targets
0.37Weak
HeadacheOpen Targets
0.37Weak
X-linked complex neurodevelopmental disorderOpen Targets
0.37Weak
bipolar disorderOpen Targets
0.36Weak
cocaine dependenceOpen Targets
0.36Weak
developmental and epileptic encephalopathyOpen Targets
0.34Weak
PainOpen Targets
0.34Weak
epilepsy with generalized tonic-clonic seizuresOpen Targets
0.33Weak
Tourette syndromeOpen Targets
0.32Weak
Intellectual developmental disorder, X-linked, syndromic, Wu typeUniProt
Pathogenic Variants40
NM_007325.5(GRIA3):c.1949C>T (p.Ala650Val)Pathogenic
Syndromic X-linked intellectual disability 94|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 650
NM_007325.5(GRIA3):c.1888G>A (p.Gly630Arg)Pathogenic
Intellectual disability|not provided|Seizure|Syndromic X-linked intellectual disability 94
β˜…β˜…β˜†β˜†2024β†’ Residue 630
NM_007325.5(GRIA3):c.646C>T (p.Arg216Ter)Pathogenic
not provided|Syndromic X-linked intellectual disability 94|Thyroid cancer, nonmedullary, 1
β˜…β˜…β˜†β˜†2023β†’ Residue 216
NM_007325.5(GRIA3):c.1180C>T (p.Arg394Ter)Pathogenic
Syndromic X-linked intellectual disability 94|Inborn genetic diseases
β˜…β˜…β˜†β˜†2022β†’ Residue 394
NM_007325.5(GRIA3):c.1564dup (p.Ser522fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2026β†’ Residue 522
NM_007325.5(GRIA3):c.2397G>T (p.Trp799Cys)Likely pathogenic
Syndromic X-linked intellectual disability 94
β˜…β˜†β˜†β˜†2025β†’ Residue 799
NM_007325.5(GRIA3):c.1663A>C (p.Ile555Leu)Likely pathogenic
Seizure
β˜…β˜†β˜†β˜†2025β†’ Residue 555
NM_007325.5(GRIA3):c.2340del (p.Ala781fs)Likely pathogenic
Syndromic X-linked intellectual disability 94
β˜…β˜†β˜†β˜†2025β†’ Residue 781
NM_007325.5(GRIA3):c.1982T>C (p.Met661Thr)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 661
NM_007325.5(GRIA3):c.1991C>T (p.Pro664Leu)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 664
NM_007325.5(GRIA3):c.1972G>A (p.Val658Met)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 658
NM_007325.5(GRIA3):c.2359G>A (p.Glu787Lys)Pathogenic
Developmental and epileptic encephalopathy
β˜…β˜†β˜†β˜†2024β†’ Residue 787
NM_000828.5(GRIA3):c.2408G>A (p.Gly803Glu)Likely pathogenic
not provided|GRIA3-related disorder
β˜…β˜†β˜†β˜†2024β†’ Residue 803
NM_007325.5(GRIA3):c.2077-1G>CLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2024
NM_007325.5(GRIA3):c.1170_1173del (p.Ser391fs)Likely pathogenic
Syndromic X-linked intellectual disability 94
β˜…β˜†β˜†β˜†2024β†’ Residue 391
NM_007325.5(GRIA3):c.2497G>A (p.Gly833Arg)Pathogenic
Syndromic X-linked intellectual disability 94|not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 833
NM_007325.5(GRIA3):c.1373T>C (p.Leu458Pro)Likely pathogenic
Syndromic X-linked intellectual disability 94
β˜…β˜†β˜†β˜†2024β†’ Residue 458
NM_007325.5(GRIA3):c.2097C>G (p.Tyr699Ter)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 699
NM_007325.5(GRIA3):c.2167_2175del (p.Ala723_Val725del)Likely pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2023β†’ Residue 723
NM_007325.5(GRIA3):c.1973T>C (p.Val658Ala)Likely pathogenic
Syndromic X-linked intellectual disability 94
β˜…β˜†β˜†β˜†2023β†’ Residue 658
View on ClinVar β†—
Drug Targets14
BECAMPANELPhase II
Glutamate receptor ionotropic AMPA antagonist
epilepsy
CX1739Phase II
Glutamate receptor ionotropic AMPA positive allosteric modulator
attention deficit hyperactivity disorder
FARAMPATORPhase II
Glutamate receptor ionotropic AMPA positive allosteric modulator
depressive disorder
IRAMPANELPhase I
Glutamate receptor ionotropic AMPA antagonist
MIBAMPATORPhase II
Glutamate receptor ionotropic AMPA positive allosteric modulator
Alzheimer disease
MK-8777Phase II
Glutamate receptor ionotropic AMPA positive allosteric modulator
attention deficit hyperactivity disorder
OSAVAMPATORPhase II
Glutamate receptor ionotropic AMPA positive allosteric modulator
depressive disorder
PERAMPANELApproved
Glutamate receptor ionotropic AMPA antagonist
Seizure
PESAMPATORPhase II
Glutamate receptor ionotropic AMPA positive allosteric modulator
schizophrenia
SELURAMPANELPhase II
Glutamate receptor ionotropic AMPA antagonist
epilepsy
TEZAMPANELPhase II
Glutamate receptor ionotropic kainate antagonist
Pain
TEZAMPANEL ANHYDROUSPhase II
Glutamate receptor ionotropic kainate antagonist
Pain
TOPIRAMATEApproved
Glutamate receptor ionotropic AMPA antagonist
epilepsy
ZONAMPANELPhase II
Glutamate receptor ionotropic AMPA antagonist
Ischemic stroke
Related Genes
HTR3EProtein interaction98%CACNG7Protein interaction94%GRIP2Protein interaction94%CNIH4Protein interaction92%CACNG8Protein interaction91%CACNG4Protein interaction91%
Tissue Expression6 tissues
Brain
100%
Ovary
19%
Liver
13%
Heart
8%
Lung
1%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
GRIA3HTR3ECACNG7GRIP2CNIH4CACNG8CACNG4
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt P42263
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.12Highly Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.05 [0.02–0.12]
RankingsWhere GRIA3 stands among ~20K protein-coding genes
  • #5,246of 20,598
    Most Researched91
  • #610of 1,025
    FDA-Approved Drug Targets2
  • #1,541of 5,498
    Most Pathogenic Variants40
  • #118of 17,882
    Most Constrained (LOEUF)0.12 Β· top 1%
Genes detectedGRIA3
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
X-Linked Epilepsies: A Narrative Review.
PMID: 38612920
Int J Mol Sci Β· 2024
1.00
2
Rare coding variants in ten genes confer substantial risk for schizophrenia.
PMID: 35396579
Nature Β· 2022
0.90
3
Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes.
PMID: 38038360
Brain Β· 2024
0.80
4
The p.Glu787Lys variant in the GRIA3 gene causes developmental and epileptic encephalopathy mimicking structural epilepsy in a female patient.
PMID: 35093607
Eur J Med Genet Β· 2022
0.70
5
Case-control study of GRIA1 and GRIA3 gene variants in migraine.
PMID: 26800698
J Headache Pain Β· 2015
0.60