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GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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GABRG3
gamma-aminobutyric acid type A receptor subunit gamma3
Chromosome 15 · 15q12
NCBI Gene: 2567Ensembl: ENSG00000182256.13HGNC: HGNC:4088UniProt: Q99928
43PubMed Papers
20Diseases
71Drugs
1Pathogenic Variants
FUNCTIONAL ROLE
Ion ChannelTransporter
CLINICAL
FDA Approved Target
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
plasma membraneGABA-A receptor activityGABA-gated chloride ion channel activitysynaptic transmission, GABAergicmajor depressive disorderepilepsymigraine disorderinsomnia
✦AI Summary

GABRG3 encodes the gamma-3 subunit of GABAA receptors, heteropentameric ligand-gated chloride channels that mediate inhibitory GABAergic neurotransmission in the brain. The subunit assembles with four other subunits around a central pore; GABA binding at alpha-beta interfaces activates the channel to permit selective chloride influx down its electrochemical gradient, hyperpolarizing neurons. GABRG3 maps to chromosome 15-q13, clustered with GABRB3 and GABRA5, and exhibits imprinting with differential parental methylation 1 2. GABRG3 variants associate with multiple neurodevelopmental disorders. In autism spectrum disorder (ASD), the rs7180500 C allele confers risk in Chinese Han populations, with eQTL analysis linking it to cerebellar GABRG3 expression, while rare variants p.Val233Met and p.Pro365Ser show enrichment in autistic patients 3. The rs140679 T allele and rs208129 TT genotype demonstrate significant ASD associations in other populations 4 5. GABRG3 alterations—including sequence variants and methylation abnormalities—expand the clinico-molecular spectrum of Angelman syndrome in approximately 10% of undiagnosed cases 2. Additionally, GABRG3 variants associate with atypical absence seizures and developmental epileptic encephalopathies 6, and common variants influence sleep duration through gene-gene interactions within the GABRB3-GABRA5-GABRG3 cluster 7. GABRG3 represents a versatile susceptibility locus for neurological and neurodevelopmental conditions.

Sources cited
1
GABRG3 variants (sequence changes and methylation alterations) are associated with Angelman syndrome phenotype in undiagnosed cases
PMID: 34779508
2
GABRG3 maps to chromosome 15q12-q13, located within 35kb of GABRA5, transcribed in the same orientation
PMID: 7601451
3
GABRG3 rs7180500 C allele is a risk variant for autism in Chinese Han population; rs201602655 (p.Val233Met) variant enriched in autistic patients; associated with cerebellar GABRG3 expression
PMID: 30108208
4
GABRG3 rs140679 T allele homozygous genotype significantly associated with autism spectrum disorder, increasing disease risk approximately 1.8-fold
PMID: 37019319
5
GABRG3 pathogenic variants are linked to atypical absence seizures and developmental epileptic encephalopathies
PMID: 38232560
6
GABRG3 rs208129 TT genotype strongly associated with autism spectrum disorder in Iraqi Arab pediatric population
PMID: 35403940
7
GABRG3 rs147619342 variant associates with sleep duration; participates in gene-gene interactions within GABRB3-GABRA5-GABRG3 cluster
PMID: 34530807
8
GABRG3 copy number variants identified in neurodevelopmental disorder patients using array-CGH
PMID: 38674362
Disease Associationsⓘ20
major depressive disorderOpen Targets
0.61Moderate
epilepsyOpen Targets
0.61Moderate
migraine disorderOpen Targets
0.61Moderate
insomniaOpen Targets
0.61Moderate
panic disorderOpen Targets
0.60Moderate
AgitationOpen Targets
0.60Moderate
anxiety disorderOpen Targets
0.60Moderate
alcohol dependenceOpen Targets
0.60Moderate
SeizureOpen Targets
0.59Moderate
AnxietyOpen Targets
0.59Moderate
postpartum depressionOpen Targets
0.58Moderate
PainOpen Targets
0.57Moderate
status epilepticusOpen Targets
0.57Moderate
generalized anxiety disorderOpen Targets
0.56Moderate
HeadacheOpen Targets
0.55Moderate
Lennox-Gastaut syndromeOpen Targets
0.55Moderate
depressive disorderOpen Targets
0.53Moderate
Stiff-Person syndromeOpen Targets
0.53Moderate
partial epilepsyOpen Targets
0.51Moderate
sedationOpen Targets
0.51Moderate
Pathogenic Variants1
NM_033223.5(GABRG3):c.1125C>T (p.Asn375=)Pathogenic
Angelman syndrome
★☆☆☆2020→ Residue 375
View on ClinVar ↗
Drug Targets71
ABP-700Phase II
GABA-A receptor; anion channel agonist
ACAMPROSATEApproved
Glutamate [NMDA] receptor antagonist
alcohol dependence
ACAMPROSATE CALCIUMApproved
Glutamate [NMDA] receptor antagonist
alcohol dependence
ADIPIPLONPhase II
GABA-A receptor; anion channel partial agonist
sleep-wake disorder
ALPRAZOLAMApproved
GABA-A receptor; anion channel positive allosteric modulator
panic disorder
BREXANOLONEApproved
GABA-A receptor; anion channel positive allosteric modulator
BUTABARBITALApproved
GABA-A receptor; anion channel positive allosteric modulator
insomnia
BUTALBITALApproved
GABA-A receptor; anion channel positive allosteric modulator
migraine disorder
CENOBAMATEApproved
Sodium channel alpha subunit inhibitor
Seizure
CHLORDIAZEPOXIDEApproved
GABA-A receptor; anion channel positive allosteric modulator
anxiety disorder
CHLORDIAZEPOXIDE HYDROCHLORIDEApproved
GABA-A receptor; anion channel positive allosteric modulator
CIPEPOFOLPhase III
GABA-A receptor; anion channel agonist
CLOBAZAMApproved
GABA-A receptor; anion channel positive allosteric modulator
CLOMETHIAZOLEPhase III
GABA-A receptor; anion channel positive allosteric modulator
stroke
CLONAZEPAMApproved
GABA-A receptor; anion channel positive allosteric modulator
CLORAZEPATE DIPOTASSIUMApproved
GABA-A receptor; anion channel positive allosteric modulator
CLORAZEPIC ACIDApproved
GABA-A receptor; anion channel positive allosteric modulator
anxiety disorder
CLOTIAZEPAMApproved
GABA-A receptor; anion channel positive allosteric modulator
anxiety disorder
DARIGABATPhase II
GABA-A receptor; anion channel agonist
Chronic pain
DESFLURANEApproved
Potassium channel subfamily K member 10 opener
DIAZEPAMApproved
GABA-A receptor; anion channel positive allosteric modulator
Agitation
ENFLURANEApproved
Potassium channel subfamily K member 10 opener
ESTAZOLAMApproved
GABA-A receptor; anion channel positive allosteric modulator
insomnia
ESZOPICLONEApproved
GABA-A receptor; anion channel positive allosteric modulator
insomnia
ETHCHLORVYNOLApproved
GABA-A receptor; anion channel positive modulator
insomnia
ETIFOXINEApproved
GABA-A receptor; anion channel antagonist
Anxiety
ETOMIDATEApproved
GABA-A receptor; anion channel positive modulator
FLUMAZENILApproved
GABA-A receptor; anion channel allosteric antagonist
FLUNITRAZEPAMApproved
GABA-A receptor; anion channel positive allosteric modulator
insomnia
FLURAZEPAMApproved
GABA-A receptor; anion channel positive allosteric modulator
insomnia
FLURAZEPAM HYDROCHLORIDEApproved
GABA-A receptor; anion channel positive allosteric modulator
GANAXOLONEApproved
GABA-A receptor; anion channel positive allosteric modulator
epilepsy
GLUTETHIMIDEApproved
GABA-A receptor; anion channel positive modulator
insomnia
HALAZEPAMApproved
GABA-A receptor; anion channel positive allosteric modulator
anxiety disorder
HALOTHANEApproved
Potassium channel subfamily K member 10 opener
ISOFLURANEApproved
Potassium channel subfamily K member 2 opener
LORAZEPAMApproved
GABA-A receptor; anion channel positive allosteric modulator
major depressive disorder
MEPROBAMATEApproved
GABA-A receptor; anion channel agonist
anxiety disorder
METHAQUALONEUNKNOWN
GABA-A receptor; anion channel positive allosteric modulator
insomnia
METHAQUALONE HYDROCHLORIDEUNKNOWN
GABA-A receptor; anion channel positive allosteric modulator
METHARBITALApproved
GABA-A receptor; anion channel positive allosteric modulator
epilepsy
METHOHEXITALApproved
GABA-A receptor; anion channel positive allosteric modulator
METHOXYFLURANEApproved
GABA-A receptor; anion channel positive modulator
METHYPRYLONApproved
GABA-A receptor; anion channel positive allosteric modulator
insomnia
MIDAZOLAMApproved
GABA-A receptor; anion channel positive allosteric modulator
epilepsy
MIDAZOLAM HYDROCHLORIDEApproved
GABA-A receptor; anion channel positive allosteric modulator
amnesia
OXAZEPAMApproved
GABA-A receptor; anion channel positive allosteric modulator
Agitation
PADSEVONILPhase II/III
GABA-A receptor; anion channel partial agonist
epilepsy
PAGOCLONEPhase II/III
GABA-A receptor; anion channel positive allosteric modulator
anxiety disorder
PENTOBARBITALApproved
GABA-A receptor; anion channel positive allosteric modulator
insomnia
PENTOBARBITAL SODIUMUNKNOWN
GABA-A receptor; anion channel positive allosteric modulator
PRAZEPAMApproved
GABA-A receptor; anion channel positive allosteric modulator
anxiety disorder
PRIMIDONEApproved
GABA-A receptor; anion channel positive allosteric modulator
epilepsy
PROPOFOLApproved
GABA-A receptor; anion channel positive allosteric modulator
QUAZEPAMApproved
GABA-A receptor; anion channel positive allosteric modulator
REMIMAZOLAMApproved
GABA-A receptor; anion channel positive allosteric modulator
REMIMAZOLAM BESYLATEApproved
GABA-A receptor; anion channel positive allosteric modulator
RESEQUINILPhase II
GABA-A receptor; anion channel inverse agonist
epilepsy
SECOBARBITALApproved
GABA-A receptor; anion channel positive allosteric modulator
SECOBARBITAL SODIUMUNKNOWN
GABA-A receptor; anion channel positive allosteric modulator
SEVOFLURANEApproved
Glycine receptor (alpha-1/beta) positive modulator
TALBUTALApproved
GABA-A receptor; anion channel positive allosteric modulator
Irritability
TEMAZEPAMApproved
GABA-A receptor; anion channel positive allosteric modulator
insomnia
TETRAZEPAMUNKNOWN
GABA-A receptor; anion channel positive allosteric modulator
THIAMYLALApproved
GABA-A receptor; anion channel positive allosteric modulator
THIOPENTALApproved
GABA-A receptor; anion channel positive allosteric modulator
THIOPENTAL SODIUMPhase I
GABA-A receptor; anion channel positive allosteric modulator
amnesia
TOPIRAMATEApproved
Glutamate receptor ionotropic AMPA antagonist
epilepsy
TRIAZOLAMApproved
GABA-A receptor; anion channel positive allosteric modulator
TRICLOFOS SODIUMApproved
GABA-A receptor; anion channel positive modulator
insomnia
ZURANOLONEApproved
GABA-A receptor; anion channel positive allosteric modulator
postpartum depression
Related Genes
TRAK2Protein interaction97%GABARAPProtein interaction96%GABARAPL1Protein interaction95%HAP1Protein interaction94%PLCL1Protein interaction91%NSFProtein interaction90%
Tissue Expression6 tissues
Brain
100%
Ovary
7%
Liver
4%
Lung
2%
Bone Marrow
1%
Heart
0%
Gene Interaction Network
Click a node to explore
GABRG3TRAK2GABARAPGABARAPL1HAP1PLCL1NSF
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q99928
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.60LoF Tolerant
pLIⓘ
0.36Tolerant
Observed/Expected LoF0.40 [0.28–0.60]
RankingsWhere GABRG3 stands among ~20K protein-coding genes
  • #9,729of 20,598
    Most Researched43
  • #32of 1,025
    FDA-Approved Drug Targets57 · top 5%
  • #5,142of 5,498
    Most Pathogenic Variants1
  • #4,115of 17,882
    Most Constrained (LOEUF)0.60 · top quartile
Genes detectedGABRG3
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Expanding the clinico-molecular spectrum of Angelman syndrome phenotype with the GABRG3 gene: Evidence from methylation and sequencing studies.
PMID: 34779508
Ann Hum Genet · 2022
1.00
2
The gamma-aminobutyric acid receptor gamma 3 subunit gene (GABRG3) is tightly linked to the alpha 5 subunit gene (GABRA5) on human chromosome 15q11-q13 and is transcribed in the same orientation.
PMID: 7601451
Genomics · 1995
0.90
3
Association study and mutation sequencing of genes on chromosome 15q11-q13 identified GABRG3 as a susceptibility gene for autism in Chinese Han population.
PMID: 30108208
Transl Psychiatry · 2018
0.80
4
Association of GABRG3, GABRB3, HTR2A gene variants with autism spectrum disorder.
PMID: 37019319
Gene · 2023
0.70
5
Genetic Alterations in a Large Population of Italian Patients Affected by Neurodevelopmental Disorders.
PMID: 38674362
Genes (Basel) · 2024
0.60