GABRG3 Gene

HGNC Family	Ion channels, Gamma-aminobutyric acid (GABA) receptors
Name	gamma-aminobutyric acid (GABA) A receptor, gamma 3
Description	This gene encodes a gamma-aminobutyric acid (GABA) receptor. GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. GABA-A receptors are pentameric, consisting of proteins from several subunit classes: alpha, beta, gamma, delta and rho. The protein encoded by this gene is a gamma subunit, which contains the benzodiazepine binding site. Two transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Aug 2012]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n The γ‐aminobutyric acid A (GABA<A) receptor γ3 subunit, encoded by the GABRG3 gene located in the chromosome 15q11–13 region, plays a critical role in mediating fast inhibitory neurotransmission in the central nervous system. Several lines of evidence indicate that genetic and epigenetic variations in GABRG3 can perturb GABAergic signaling, thereby contributing to neuropsychiatric dysfunction. For example, studies of postmortem brain tissue show that while GABRG3 is normally expressed from both alleles, its allelic expression can become skewed in disorders such as autism and Rett syndrome, implying that epigenetic dysregulation may disrupt proper receptor function and neural network inhibition."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "4"}]}, {"type": "t", "text": ""}]}, {"type": "t", "text": "\n \n "}, {"type": "p", "children": [{"type": "t", "text": "\n In addition, multiple genetic association studies suggest that variants within GABRG3 are implicated in alcohol dependence and related withdrawal phenotypes; robust signals across this gene have been observed in family‐based as well as case–control cohorts, indicating that alterations in GABRG3 may contribute to a state of central nervous system disinhibition that predisposes individuals to addictive behaviors."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "5"}]}, {"type": "t", "text": ""}]}, {"type": "t", "text": "\n \n "}, {"type": "p", "children": [{"type": "t", "text": "\n Moreover, studies focusing on movement disorders have found that polymorphisms in GABRG3 are associated with treatment‐resistant tardive dyskinesia in patients with schizophrenia, while gene–gene interaction analyses also point to a contributory role for GABRG3 in autism risk when considered together with other subunits of the GABA<A receptor complex."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "7"}, {"type": "fg_f", "ref": "4"}]}, {"type": "t", "text": ""}]}, {"type": "t", "text": "\n \n "}, {"type": "p", "children": [{"type": "t", "text": "\n Finally, emerging data indicate that GABRG3 may be involved in modulating responses to physiological stressors. For instance, changes in the expression of GABRG3 have been observed following exhaustive physical exercise, and recent genome‐wide investigations have linked variants in this gene cluster with altered sleep duration, suggesting that GABRG3 contributes to both behavioral and homeostatic processes."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "8", "end_ref": "10"}]}, {"type": "t", "text": ""}]}, {"type": "t", "text": "\n \n "}, {"type": "p", "children": [{"type": "t", "text": "\n Collectively, these findings underscore the multifaceted role of GABRG3 in regulating inhibitory neurotransmission and neural network stability. Disruption of its normal function—whether by genetic polymorphisms, altered allelic expression, or gene–gene interactions—appears to be an important factor in the etiology of diverse neuropsychiatric conditions including autism spectrum disorders, alcohol dependence, and movement disorders.\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Amber Hogart, Raman P Nagarajan, Katherine A Patzel, et al. "}, {"type": "b", "children": [{"type": "t", "text": "15q11-13 GABAA receptor genes are normally biallelically expressed in brain yet are subject to epigenetic dysregulation in autism-spectrum disorders."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mol Genet (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/hmg/ddm014"}], "href": "https://doi.org/10.1093/hmg/ddm014"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17339270"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17339270"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Linyan Wang, Jun Li, Mei Shuang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Association study and mutation sequencing of genes on chromosome 15q11-q13 identified GABRG3 as a susceptibility gene for autism in Chinese Han population."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Transl Psychiatry (2018)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/s41398-018-0197-4"}], "href": "https://doi.org/10.1038/s41398-018-0197-4"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "30108208"}], "href": "https://pubmed.ncbi.nlm.nih.gov/30108208"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Mamoru Tochigi, Chieko Kato, Shinko Koishi, et al. "}, {"type": "b", "children": [{"type": "t", "text": "No evidence for significant association between GABA receptor genes in chromosome 15q11-q13 and autism in a Japanese population."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Hum Genet (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s10038-007-0207-5"}], "href": "https://doi.org/10.1007/s10038-007-0207-5"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17957331"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17957331"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "A E Ashley-Koch, H Mei, J Jaworski, et al. "}, {"type": "b", "children": [{"type": "t", "text": "An analysis paradigm for investigating multi-locus effects in complex disease: examination of three GABA receptor subunit genes on 15q11-q13 as risk factors for autistic disorder."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Ann Hum Genet (2006)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1111/j.1469-1809.2006.00253.x"}], "href": "https://doi.org/10.1111/j.1469-1809.2006.00253.x"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "16674551"}], "href": "https://pubmed.ncbi.nlm.nih.gov/16674551"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Danielle M Dick, Howard J Edenberg, Xiaoling Xuei, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Association of GABRG3 with alcohol dependence."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Alcohol Clin Exp Res (2004)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1097/01.ALC.0000108645.54345.98"}], "href": "https://doi.org/10.1097/01.ALC.0000108645.54345.98"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "14745296"}], "href": "https://pubmed.ncbi.nlm.nih.gov/14745296"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Ke-Sheng Wang, Xuefeng Liu, Qunyuan Zhang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Genome-wide association study identifies 5q21 and 9p24.1 (KDM4C) loci associated with alcohol withdrawal symptoms."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Neural Transm (Vienna) (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s00702-011-0729-z"}], "href": "https://doi.org/10.1007/s00702-011-0729-z"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22072270"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22072270"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Toshiya Inada, Minori Koga, Hiroki Ishiguro, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Pathway-based association analysis of genome-wide screening data suggest that genes associated with the gamma-aminobutyric acid receptor signaling pathway are involved in neuroleptic-induced, treatment-resistant tardive dyskinesia."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Pharmacogenet Genomics (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1097/FPC.0b013e3282f70492"}], "href": "https://doi.org/10.1097/FPC.0b013e3282f70492"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18334916"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18334916"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Marleen H M De Moor, Yong-Jun Liu, Dorret I Boomsma, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Genome-wide association study of exercise behavior in Dutch and American adults."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Med Sci Sports Exerc (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1249/MSS.0b013e3181a2f646"}], "href": "https://doi.org/10.1249/MSS.0b013e3181a2f646"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19727025"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19727025"}]}, {"type": "r", "ref": 9, "children": [{"type": "t", "text": "Tomoko Kawai, Kyoko Morita, Kiyoshi Masuda, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Physical exercise-associated gene expression signatures in peripheral blood."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Clin J Sport Med (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1097/JSM.0b013e31814c3e4f"}], "href": "https://doi.org/10.1097/JSM.0b013e31814c3e4f"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17873550"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17873550"}]}, {"type": "r", "ref": 10, "children": [{"type": "t", "text": "Sheue-Jane Hou, Shih-Jen Tsai, Po-Hsiu Kuo, et al. "}, {"type": "b", "children": [{"type": "t", "text": "An association study in the Taiwan Biobank elicits the GABAA receptor genes GABRB3, GABRA5, and GABRG3 as candidate loci for sleep duration in the Taiwanese population."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "BMC Med Genomics (2021)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1186/s12920-021-01083-x"}], "href": "https://doi.org/10.1186/s12920-021-01083-x"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "34530807"}], "href": "https://pubmed.ncbi.nlm.nih.gov/34530807"}]}]}]}
Proteins	GBRG3_HUMAN
NCBI Gene ID	2567
API
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Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

GABRG3 has 3,618 functional associations with biological entities spanning 9 categories (molecular profile, organism, chemical, functional term, phrase or reference, disease, phenotype or trait, structural feature, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 110 datasets.

Click the + buttons to view associations for GABRG3 from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

GABRG3 Gene

Functional Associations

Please acknowledge the Harmonizome in your publications by citing the following reference(s):

	Dataset	Summary
	Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of GABRG3 gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles	tissues with high or low expression of GABRG3 gene relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles	tissue samples with high or low expression of GABRG3 gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray	tissue samples with high or low expression of GABRG3 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq	tissue samples with high or low expression of GABRG3 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq dataset.
	Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of GABRG3 gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.
	BioGPS Cell Line Gene Expression Profiles	cell lines with high or low expression of GABRG3 gene relative to other cell lines from the BioGPS Cell Line Gene Expression Profiles dataset.
	BioGPS Human Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of GABRG3 gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset.
	BioGPS Mouse Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of GABRG3 gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of GABRG3 gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset.
	CCLE Cell Line Gene Expression Profiles	cell lines with high or low expression of GABRG3 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	ChEA Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of GABRG3 gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of GABRG3 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset.
	ChEA Transcription Factor Targets 2022	transcription factors binding the promoter of GABRG3 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	CMAP Signatures of Differentially Expressed Genes for Small Molecules	small molecule perturbations changing expression of GABRG3 gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing GABRG3 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing GABRG3 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025	cellular components co-occuring with GABRG3 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with GABRG3 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Chemical Interactions	chemicals interacting with GABRG3 gene/protein from the curated CTD Gene-Chemical Interactions dataset.
	CTD Gene-Disease Associations	diseases associated with GABRG3 gene/protein from the curated CTD Gene-Disease Associations dataset.
	dbGAP Gene-Trait Associations	traits associated with GABRG3 gene in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset.
	DepMap CRISPR Gene Dependency	cell lines with fitness changed by GABRG3 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores 2025	diseases involving GABRG3 gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores	diseases associated with GABRG3 gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores	diseases co-occuring with GABRG3 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	diseases co-occuring with GABRG3 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
	DisGeNET Gene-Disease Associations	diseases associated with GABRG3 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with GABRG3 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset.
	DrugBank Drug Targets	interacting drugs for GABRG3 protein from the curated DrugBank Drug Targets dataset.
	ENCODE Histone Modification Site Profiles	histone modification site profiles with high histone modification abundance at GABRG3 gene from the ENCODE Histone Modification Site Profiles dataset.
	ENCODE Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of GABRG3 gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of GABRG3 gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset.
	ESCAPE Omics Signatures of Genes and Proteins for Stem Cells	PubMedIDs of publications reporting gene signatures containing GABRG3 from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset.
	GAD Gene-Disease Associations	diseases associated with GABRG3 gene in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
	GAD High Level Gene-Disease Associations	diseases associated with GABRG3 gene in GWAS and other genetic association datasets from the GAD High Level Gene-Disease Associations dataset.
	GDSC Cell Line Gene Expression Profiles	cell lines with high or low expression of GABRG3 gene relative to other cell lines from the GDSC Cell Line Gene Expression Profiles dataset.
	GeneRIF Biological Term Annotations	biological terms co-occuring with GABRG3 gene in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.
	GeneSigDB Published Gene Signatures	PubMedIDs of publications reporting gene signatures containing GABRG3 from the GeneSigDB Published Gene Signatures dataset.
	GEO Signatures of Differentially Expressed Genes for Diseases	disease perturbations changing expression of GABRG3 gene from the GEO Signatures of Differentially Expressed Genes for Diseases dataset.