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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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GABRR2
gamma-aminobutyric acid type A receptor subunit rho2
Chromosome 6 · 6q15
NCBI Gene: 2570Ensembl: ENSG00000111886.11HGNC: HGNC:4091UniProt: B4DER2
35PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Ion ChannelTransporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
synaptic transmission, GABAergicGABA-gated chloride ion channel activitychloride transmembrane transportplasma membranebrain compressionedemabiliary tract diseasealcohol drinking
✦AI Summary

GABRR2 encodes the rho-2 subunit of GABA-A receptors, pentameric ligand-gated chloride channels that mediate inhibitory neurotransmission through GABA, the brain's primary inhibitory neurotransmitter 1. The protein forms homomeric rho-containing GABA-A receptors where GABA binding at rho intersubunit interfaces triggers selective chloride ion influx across the neuronal membrane 2. GABRR2 is located on chromosome 6-q21, tightly linked with GABRR1 1, and functions in cerebellar Purkinje neurons mediating both tonic (extrasynaptic) and phasic (synaptic) transmission, with roles in retinal neurotransmission 3. Disease relevance of GABRR2 variants is substantial. Polymorphisms in GABRR2, including the coding variant Met430Thr (rs282129), show significant association with alcohol dependence, particularly early-onset forms 2. GABRR2 variants also associate with serum creatinine levels, suggesting roles in glomerular function 4. Additionally, GABRR2 polymorphisms interact with perceived parental support in modulating adolescent depressive symptoms 5, and genetic variants influence general cognitive ability in healthy populations 6. Notably, GABA receptor genes including GABRR2 show associations with autism susceptibility through complex gene-gene interactions 7. Clinically, GABRR2 represents a candidate therapeutic target for alcohol dependence and mood-related disorders, though variants showed limited association with antiepileptic drug resistance in one population 8.

Sources cited
1
GABRR2 encodes rho-2 subunit, identified from retina cDNA; maps to chromosome 6q14-q21, tightly linked with GABRR1
PMID: 1315307
2
GABRR2 SNPs and Met430Thr coding variant (rs282129) significantly associated with alcohol dependence, strongest for early onset
PMID: 19536785
3
GABRR2 encodes rho-2 component of GABA(C) receptors mediating rapid inhibitory neurotransmission in retina
PMID: 10542332
4
GABRR2 polymorphisms associated with serum creatinine levels; evidence suggests role in glomerular filtration regulation
PMID: 20222955
5
GABRR2 c.1423C>T variant (rs282129) significantly influences general cognitive ability in healthy populations
PMID: 26922432
6
GABRR2 polymorphisms interact with perceived parental support in modulating adolescent depressive symptoms
PMID: 28660714
7
GABRR2 marker HCV9866022 shows significant association with autism susceptibility
PMID: 16080114
8
GABRR2 c.IVS2C>G polymorphism showed no association with epilepsy susceptibility or drug resistance in Indian population
PMID: 21420396
Disease Associationsⓘ20
brain compressionOpen Targets
0.28Weak
edemaOpen Targets
0.27Weak
alcohol drinkingOpen Targets
0.27Weak
biliary tract diseaseOpen Targets
0.27Weak
essential tremorOpen Targets
0.11Weak
Progressive sensorineural hearing impairmentOpen Targets
0.11Weak
46,XX testicular disorder of sex developmentOpen Targets
0.06Suggestive
azoospermiaOpen Targets
0.06Suggestive
46,XY complete gonadal dysgenesisOpen Targets
0.06Suggestive
46,XY disorder of sex development due to 5-alpha-reductase 2 deficiencyOpen Targets
0.05Suggestive
46,XX ovotesticular disorder of sex developmentOpen Targets
0.05Suggestive
hypogonadotropic hypogonadism 11 with or without anosmiaOpen Targets
0.05Suggestive
familial male-limited precocious pubertyOpen Targets
0.05Suggestive
Testicular regression syndromeOpen Targets
0.05Suggestive
cryptorchidismOpen Targets
0.05Suggestive
spermatogenic failure 71Open Targets
0.05Suggestive
nervous system benign neoplasmOpen Targets
0.05Suggestive
spermatogenic failure, X-linked, 2Open Targets
0.05Suggestive
partial chromosome Y deletionOpen Targets
0.04Suggestive
X-linked intellectual disability-macrocephaly-macroorchidism syndromeOpen Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
GABRA1Protein interaction74%GABRA5Protein interaction74%GABRG1Protein interaction74%GABRG2Protein interaction74%GABBR2Protein interaction74%GABRR3Protein interaction71%
Tissue Expression6 tissues
Lung
100%
Liver
38%
Ovary
34%
Heart
29%
Bone Marrow
24%
Brain
1%
Gene Interaction Network
Click a node to explore
GABRR2GABRA1GABRA5GABRG1GABRG2GABBR2GABRR3
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt P28476
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.00LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.75 [0.57–1.00]
RankingsWhere GABRR2 stands among ~20K protein-coding genes
  • #10,969of 20,598
    Most Researched35
  • #9,750of 17,882
    Most Constrained (LOEUF)1.00
Genes detectedGABRR2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
GABRR1 and GABRR2, encoding the GABA-A receptor subunits rho1 and rho2, are associated with alcohol dependence.
PMID: 19536785
Am J Med Genet B Neuropsychiatr Genet · 2010
1.00
2
Potential role of GABAA receptor subunit; GABRA6, GABRB2 and GABRR2 gene polymorphisms in epilepsy susceptibility and pharmacotherapy in North Indian population.
PMID: 21420396
Clin Chim Acta · 2011
0.90
3
Identification of a putative gamma-aminobutyric acid (GABA) receptor subunit rho2 cDNA and colocalization of the genes encoding rho2 (GABRR2) and rho1 (GABRR1) to human chromosome 6q14-q21 and mouse chromosome 4.
PMID: 1315307
Genomics · 1992
0.80
4
A meta-analysis of genome-wide data from five European isolates reveals an association of COL22A1, SYT1, and GABRR2 with serum creatinine level.
PMID: 20222955
BMC Med Genet · 2010
0.70
5
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
0.60