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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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GRIA4
glutamate ionotropic receptor AMPA type subunit 4
Chromosome 11 Β· 11q22.3
NCBI Gene: 2893Ensembl: ENSG00000152578.15HGNC: HGNC:4574UniProt: A0A8D9PH77
71PubMed Papers
21Diseases
14Drugs
11Pathogenic Variants
FUNCTIONAL ROLE
Ion ChannelReceptorTransporter
CLINICAL
FDA Approved TargetOMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
extracellular vesiclenegative regulation of smooth muscle cell apoptotic processAMPA glutamate receptor activityligand-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potentialneurodevelopmental disorder with or without seizures and gait abnormalitiesepilepsymigraine disorderSeizure
✦AI Summary

GRIA4 encodes an AMPA-type glutamate ionotropic receptor that functions as a ligand-gated cation channel mediating fast excitatory neurotransmission in the central nervous system. Upon L-glutamate binding, the receptor undergoes conformational changes leading to cation channel opening, allowing sodium and calcium influx that converts chemical signals to electrical impulses 1. The receptor subsequently desensitizes rapidly, entering a transient inactive state 1. GRIA4 is clinically relevant to multiple neuropsychiatric and systemic disorders. Gain-of-function and loss-of-function variants in GRIA4 and related GRIA subunits (GRIA1-3) cause neurodevelopmental disorders characterized by developmental delay, cognitive impairment, seizures, movement disorders, and hypertonia or hypotonia depending on variant type 23. An intronic GRIA4 variant (rs68081839) was identified as a risk locus for comorbid nicotine dependence and major depression in genome-wide association studies, suggesting shared glutamatergic dysfunction in these psychiatric conditions 4. Additionally, GRIA4 expression is altered in colorectal cancer, with hypermethylation and downregulation observed in >97% of tumors, positioning it as a potential diagnostic biomarker 5. In vascular pathology, GRIA4 participates in a circCBFB/miR-28-5p/GRIA4/LYPD3 regulatory axis controlling vascular smooth muscle cell apoptosis relevant to abdominal aortic aneurysm 6. However, GRIA4 polymorphisms show no significant association with schizophrenia susceptibility or migraine in studied populations 78.

Sources cited
1
GRIA4 mediates fast excitatory neurotransmission through glutamate-gated cation channel opening and rapid desensitization
PMID: 21172611
2
GRIA variants cause neurodevelopmental disorders with distinct phenotypes based on gain-of-function vs. loss-of-function properties
PMID: 38038360
3
GRIA2/GRIA3 gain-of-function variants at paralogous positions cause developmental delay, cognitive impairment, seizures, and movement disorders
PMID: 40391499
4
GRIA4 intronic variant rs68081839 is associated with comorbid nicotine dependence and major depression in GWAS
PMID: 30287806
5
GRIA4 is hypermethylated and downregulated in >97% of colorectal cancer samples, serving as a potential diagnostic biomarker
PMID: 30987631
6
GRIA4 participates in circCBFB/miR-28-5p axis regulating vascular smooth muscle cell apoptosis in abdominal aortic aneurysm
PMID: 32151690
7
GRIA4 polymorphisms show no association with schizophrenia susceptibility in Chinese population
PMID: 15450689
8
GRIA4 polymorphisms show no association with migraine in Australian Caucasian population
PMID: 24512576
Disease Associationsβ“˜21
neurodevelopmental disorder with or without seizures and gait abnormalitiesOpen Targets
0.76Strong
epilepsyOpen Targets
0.61Moderate
migraine disorderOpen Targets
0.60Moderate
SeizureOpen Targets
0.58Moderate
alcohol dependenceOpen Targets
0.57Moderate
Lennox-Gastaut syndromeOpen Targets
0.52Moderate
partial epilepsyOpen Targets
0.50Moderate
obesityOpen Targets
0.47Moderate
diabetic neuropathyOpen Targets
0.42Moderate
refractive errorOpen Targets
0.41Moderate
Abnormality of refractionOpen Targets
0.39Weak
Intellectual disabilityOpen Targets
0.38Weak
Parkinson diseaseOpen Targets
0.37Weak
myopiaOpen Targets
0.37Weak
HeadacheOpen Targets
0.37Weak
complex neurodevelopmental disorderOpen Targets
0.37Weak
bipolar disorderOpen Targets
0.36Weak
cocaine dependenceOpen Targets
0.36Weak
restless legs syndromeOpen Targets
0.35Weak
genetic disorderOpen Targets
0.34Weak
Neurodevelopmental disorder with or without seizures and gait abnormalitiesUniProt
Pathogenic Variants11
NM_000829.4(GRIA4):c.1931C>T (p.Ala644Val)Likely pathogenic
Neurodevelopmental disorder with or without seizures and gait abnormalities|Intellectual disability
β˜…β˜†β˜†β˜†2025β†’ Residue 644
NM_000829.4(GRIA4):c.536G>A (p.Trp179Ter)Likely pathogenic
Neurodevelopmental disorder with or without seizures and gait abnormalities
β˜…β˜†β˜†β˜†2024β†’ Residue 179
NM_000829.4(GRIA4):c.1921A>G (p.Asn641Asp)Likely pathogenic
Neurodevelopmental disorder with or without seizures and gait abnormalities|Inborn genetic diseases|Intellectual disability
β˜…β˜†β˜†β˜†2024β†’ Residue 641
NM_000829.4(GRIA4):c.2090G>C (p.Arg697Pro)Likely pathogenic
Neurodevelopmental disorder with or without seizures and gait abnormalities|Intellectual disability
β˜…β˜†β˜†β˜†2023β†’ Residue 697
NM_000829.4(GRIA4):c.2090G>A (p.Arg697Gln)Pathogenic
Neurodevelopmental disorder with or without seizures and gait abnormalities
β˜…β˜†β˜†β˜†2023β†’ Residue 697
NM_000829.4(GRIA4):c.341A>G (p.His114Arg)Likely pathogenic
See cases
β˜…β˜†β˜†β˜†2021β†’ Residue 114
NM_000829.4(GRIA4):c.1918G>A (p.Ala640Thr)Likely pathogenic
See cases
β˜…β˜†β˜†β˜†2021β†’ Residue 640
NM_000829.4(GRIA4):c.2209C>T (p.Arg737Ter)Likely pathogenic
Obesity
β˜†β˜†β˜†β˜†2018β†’ Residue 737
NM_000829.4(GRIA4):c.1915A>T (p.Thr639Ser)Pathogenic
Neurodevelopmental disorder with or without seizures and gait abnormalities|Intellectual disability
β˜†β˜†β˜†β˜†2018β†’ Residue 639
NM_000829.4(GRIA4):c.1928C>G (p.Ala643Gly)Pathogenic
Intellectual disability|Neurodevelopmental disorder with or without seizures and gait abnormalities
β˜†β˜†β˜†β˜†2018β†’ Residue 643
NM_000829.4(GRIA4):c.1918G>T (p.Ala640Ser)Pathogenic
Neurodevelopmental disorder with or without seizures and gait abnormalities
β˜†β˜†β˜†β˜†β†’ Residue 640
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
CACNG7Protein interaction94%CNIH4Protein interaction92%CACNG8Protein interaction91%CACNG4Protein interaction91%GSRProtein interaction90%GRIK5Shared pathway89%
Tissue Expression6 tissues
Brain
100%
Ovary
1%
Lung
0%
Liver
0%
Bone Marrow
0%
Heart
0%
Gene Interaction Network
Click a node to explore
GRIA4CACNG7CNIH4CACNG8CACNG4GSRGRIK5
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt P48058
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.41Moderately Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.24 [0.14–0.41]
RankingsWhere GRIA4 stands among ~20K protein-coding genes
  • #6,633of 20,598
    Most Researched71
  • #628of 1,025
    FDA-Approved Drug Targets2
  • #2,766of 5,498
    Most Pathogenic Variants11
  • #2,132of 17,882
    Most Constrained (LOEUF)0.41 Β· top quartile
Genes detectedGRIA4
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes.
PMID: 38038360
Brain Β· 2024
1.00
2
No genetic association between polymorphisms in the AMPA receptor subunit GluR4 gene (GRIA4) and schizophrenia in the Chinese population.
PMID: 15450689
Neurosci Lett Β· 2004
0.90
3
Influence of GRIA1, GRIA2 and GRIA4 polymorphisms on diagnosis and response to antipsychotic treatment in patients with schizophrenia.
PMID: 22094384
Neurosci Lett Β· 2012
0.80
4
Genome-wide association study identifies glutamate ionotropic receptor GRIA4 as a risk gene for comorbid nicotine dependence and major depression.
PMID: 30287806
Transl Psychiatry Β· 2018
0.70
5
Genes CEP55, FOXD3, FOXF2, GNAO1, GRIA4, and KCNA5 as potential diagnostic biomarkers in colorectal cancer.
PMID: 30987631
BMC Med Genomics Β· 2019
0.60