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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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GABRR3
gamma-aminobutyric acid type A receptor subunit rho3
Chromosome 3 · 3q11.2
NCBI Gene: 200959Ensembl: ENSG00000183185.10HGNC: HGNC:17969UniProt: A8MPY1
10PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Ion ChannelTransporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
GABA-gated chloride ion channel activitysynaptic transmission, GABAergicchloride transmembrane transportGABA-A receptor complexocular hypotensionsialolithiasishypopituitarismrestless legs syndrome
✦AI Summary

GABRR3 encodes the rho3 subunit of gamma-aminobutyric acid type A (GABA-A) receptors, which are pentameric ligand-gated chloride channels that mediate inhibitory neurotransmission in the brain. The gene is located on chromosome 3-q13.3, distinct from the clustered GABRR1 and GABRR2 genes on chromosome 3 1. Rho-containing GABA receptors form homomeric chloride channels that respond to GABA binding, allowing chloride influx and neuronal hyperpolarization. GABRR3 has been investigated as a candidate gene in several neurological disorders. Genetic association studies have examined GABRR3 polymorphisms, particularly rs832032, in restless legs syndrome (RLS), with one study reporting increased frequency of the rs832032T allele in RLS patients 2, though this association was not replicated in a larger genome-wide association study 3. The gene has also been studied in essential tremor 4 and migraine 5, but no significant associations were found. Interestingly, a rare variant (p.V465A) in GABRR3 showed significant depletion in centenarians compared to controls, suggesting potential relevance to longevity 6. The gene's mRNA has been detected in platelets, indicating expression beyond the nervous system 7.

Sources cited
1
GABRR3 maps to chromosome 3q11-q13.3, separate from GABRR1 and GABRR2 on chromosome 6q
PMID: 10542332
2
GABRR3 rs832032T allele frequency was significantly higher in RLS patients than controls
PMID: 29720720
3
GABRR3 association with RLS was not replicated in a large genome-wide association study
PMID: 35486972
4
No significant association found between GABRR3 polymorphisms and essential tremor risk
PMID: 20820800
5
GABRR3 polymorphisms were not associated with migraine risk in Spanish Caucasians
PMID: 28699326
6
GABRR3 p.V465A variant was significantly depleted in centenarians compared to controls
PMID: 23376243
7
GABRR3 mRNA was detected in platelets during senescence studies
PMID: 28026009
Disease Associationsⓘ20
ocular hypotensionOpen Targets
0.23Weak
sialolithiasisOpen Targets
0.21Weak
hypopituitarismOpen Targets
0.19Weak
restless legs syndromeOpen Targets
0.11Weak
corneal neovascularizationOpen Targets
0.02Suggestive
type 1 diabetes mellitusOpen Targets
0.02Suggestive
ovarian neoplasmOpen Targets
0.02Suggestive
strokeOpen Targets
0.01Suggestive
retinitis pigmentosaOpen Targets
0.01Suggestive
Reunion island Larsen syndromeOpen Targets
0.01Suggestive
Reunion Island's Larsen syndromeOpen Targets
0.01Suggestive
infectionOpen Targets
0.01Suggestive
anxiety disorderOpen Targets
0.01Suggestive
breast cancerOpen Targets
0.01Suggestive
AnxietyOpen Targets
0.01Suggestive
diabetes mellitusOpen Targets
0.01Suggestive
essential thrombocythemiaOpen Targets
0.01Suggestive
epilepsyOpen Targets
0.00Suggestive
insomniaOpen Targets
0.00Suggestive
retinopathyOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
GABRR1Protein interaction72%GABRQShared pathway71%GABRR2Protein interaction71%GABRDShared pathway67%GABRPShared pathway67%GABRG1Shared pathway63%
Tissue Expression6 tissues
Brain
100%
Lung
0%
Bone Marrow
0%
Heart
0%
Ovary
0%
Liver
0%
Gene Interaction Network
Click a node to explore
GABRR3GABRR1GABRQGABRR2GABRDGABRPGABRG1
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt A8MPY1
View on AlphaFold ↗
RankingsWhere GABRR3 stands among ~20K protein-coding genes
  • #17,057of 20,598
    Most Researched10
Genes detectedGABRR3
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Genetic linkage and radiation hybrid mapping of the three human GABA(C) receptor rho subunit genes: GABRR1, GABRR2 and GABRR3.
PMID: 10542332
Biochim Biophys Acta · 1999
1.00
2
Gamma-aminobutyric acid (GABA) receptors genes polymorphisms and risk for restless legs syndrome.
PMID: 29720720
Pharmacogenomics J · 2018
0.90
3
Reassessment of candidate gene studies for idiopathic restless legs syndrome in a large genome-wide association study dataset of European ancestry.
PMID: 35486972
Sleep · 2022
0.80
4
Genetic Association Study of Restless Legs Syndrome in Chinese Population.
PMID: 31063999
Eur Neurol · 2019
0.70
5
Gamma-aminobutyric acid (GABA) receptor rho (GABRR) polymorphisms and risk for essential tremor.
PMID: 20820800
J Neurol · 2011
0.60