GABRB3 Gene

HGNC Family	Gamma-aminobutyric acid (GABA) receptors, Ion channels
Name	gamma-aminobutyric acid (GABA) A receptor, beta 3
Description	This gene encodes a member of the ligand-gated ionic channel family. The encoded protein is one the subunits of a multi-subunit chloride channel that serves as the receptor for gamma-aminobutyric acid, a major inhibitory neurotransmitter of the mammalian nervous system. This gene is located on the long arm of chromosome 15 in a cluster with two other genes encoding related subunits of the family. This gene may be associated with the pathogenesis of several disorders including Angelman syndrome, Prader-Willi syndrome, nonsyndromic orofacial clefts, epilepsy and autism. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2013]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n GABRB3 encodes the β3 subunit of the GABA<sub>A</sub> receptor, an ion channel that mediates fast inhibitory neurotransmission in the brain by regulating receptor assembly, trafficking, and synaptic clustering. Altered expression of GABRB3 has been documented in multiple studies, with reduced levels detected in various brain regions of individuals with autism spectrum disorders and related neurodevelopmental conditions; these changes may arise from dysregulated epigenetic mechanisms involving factors such as MECP2."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "3"}]}, {"type": "t", "text": " Moreover, genetic association analyses have linked variants in the GABRB3 gene to autism, supporting its role as a susceptibility gene."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "4"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n Functional investigations using animal models further reveal that loss‐of‐function mutations or deletion of Gabrb3 result in impaired inhibitory signaling, abnormal social behaviors, and altered neural circuit development that recapitulate core features of autism."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "5"}]}, {"type": "t", "text": " At the cellular level, missense mutations in GABRB3 have been shown to impair receptor maturation and glycosylation, leading to reduced surface expression and diminished GABA-evoked currents; such deficits in receptor trafficking and synaptic localization—often affecting partnering subunits like γ2—provide a mechanistic basis for the observed GABAergic disinhibition."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "6", "end_ref": "8"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n In addition to its involvement in autism, mutations in GABRB3 contribute to a broad spectrum of epileptic disorders—from childhood absence epilepsy to severe epileptic encephalopathies."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "9"}]}, {"type": "t", "text": " Emerging evidence also implicates altered GABRB3 regulation in non-neurological developmental anomalies; for example, decreased transcriptional activity from disease-associated promoter haplotypes of GABRB3 has been linked to nonsyndromic cleft lip with or without cleft palate."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "11"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n Together, these studies underscore the central role of GABRB3 in maintaining proper inhibitory neurotransmission and synaptic function. Disruptions in GABRB3 expression or function—whether by genetic mutation, impaired receptor trafficking, or epigenetic dysregulation—can destabilize neural networks and contribute to the pathogenesis of autism, epilepsy, and other neurodevelopmental disorders.\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "S Hossein Fatemi, Teri J Reutiman, Timothy D Folsom, et al. "}, {"type": "b", "children": [{"type": "t", "text": "GABA(A) receptor downregulation in brains of subjects with autism."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Autism Dev Disord (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s10803-008-0646-7"}], "href": "https://doi.org/10.1007/s10803-008-0646-7"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18821008"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18821008"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Rodney C Samaco, Amber Hogart, Janine M LaSalle "}, {"type": "b", "children": [{"type": "t", "text": "Epigenetic overlap in autism-spectrum neurodevelopmental disorders: MECP2 deficiency causes reduced expression of UBE3A and GABRB3."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mol Genet (2005)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/hmg/ddi045"}], "href": "https://doi.org/10.1093/hmg/ddi045"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "15615769"}], "href": "https://pubmed.ncbi.nlm.nih.gov/15615769"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "S Hossein Fatemi, Timothy D Folsom, Rachel E Kneeland, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Metabotropic glutamate receptor 5 upregulation in children with autism is associated with underexpression of both Fragile X mental retardation protein and GABAA receptor beta 3 in adults with autism."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Anat Rec (Hoboken) (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/ar.21299"}], "href": "https://doi.org/10.1002/ar.21299"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21901840"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21901840"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "J D Buxbaum, J M Silverman, C J Smith, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Association between a GABRB3 polymorphism and autism."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Psychiatry (2002)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/sj.mp.4001011"}], "href": "https://doi.org/10.1038/sj.mp.4001011"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "11920158"}], "href": "https://pubmed.ncbi.nlm.nih.gov/11920158"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Timothy M DeLorey, Peyman Sahbaie, Ezzat Hashemi, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Gabrb3 gene deficient mice exhibit impaired social and exploratory behaviors, deficits in non-selective attention and hypoplasia of cerebellar vermal lobules: a potential model of autism spectrum disorder."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Behav Brain Res (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.bbr.2007.09.009"}], "href": "https://doi.org/10.1016/j.bbr.2007.09.009"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17983671"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17983671"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Miyabi Tanaka, Richard W Olsen, Marco T Medina, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Hyperglycosylation and reduced GABA currents of mutated GABRB3 polypeptide in remitting childhood absence epilepsy."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Hum Genet (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.ajhg.2008.04.020"}], "href": "https://doi.org/10.1016/j.ajhg.2008.04.020"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18514161"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18514161"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Rikke S Møller, Thomas V Wuttke, Ingo Helbig, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Mutations in GABRB3: From febrile seizures to epileptic encephalopathies."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Neurology (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1212/WNL.0000000000003565"}], "href": "https://doi.org/10.1212/WNL.0000000000003565"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "28053010"}], "href": "https://pubmed.ncbi.nlm.nih.gov/28053010"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Yi-Wu Shi, Qi Zhang, Kefu Cai, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Synaptic clustering differences due to different GABRB3 mutations cause variable epilepsy syndromes."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Brain (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/brain/awz250"}], "href": "https://doi.org/10.1093/brain/awz250"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "31435640"}], "href": "https://pubmed.ncbi.nlm.nih.gov/31435640"}]}, {"type": "r", "ref": 9, "children": [{"type": "t", "text": "Ali Torkamani, Kevin Bersell, Benjamin S Jorge, et al. "}, {"type": "b", "children": [{"type": "t", "text": "De novo KCNB1 mutations in epileptic encephalopathy."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Ann Neurol (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/ana.24263"}], "href": "https://doi.org/10.1002/ana.24263"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25164438"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25164438"}]}, {"type": "r", "ref": 10, "children": [{"type": "t", "text": "N Craddock, L Jones, I R Jones, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Strong genetic evidence for a selective influence of GABAA receptors on a component of the bipolar disorder phenotype."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Psychiatry (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/mp.2008.66"}], "href": "https://doi.org/10.1038/mp.2008.66"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19078961"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19078961"}]}, {"type": "r", "ref": 11, "children": [{"type": "t", "text": "Luca Scapoli, Marcella Martinelli, Furio Pezzetti, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Linkage disequilibrium between GABRB3 gene and nonsyndromic familial cleft lip with or without cleft palate."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Genet (2002)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s00439-001-0639-5"}], "href": "https://doi.org/10.1007/s00439-001-0639-5"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "11810291"}], "href": "https://pubmed.ncbi.nlm.nih.gov/11810291"}]}]}]}
Synonyms	EIEE43, ECA5
Proteins	GBRB3_HUMAN
NCBI Gene ID	2562
API
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Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

GABRB3 has 5,912 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 116 datasets.

Click the + buttons to view associations for GABRB3 from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

GABRB3 Gene

Functional Associations

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

	Dataset	Summary
	Achilles Cell Line Gene Essentiality Profiles	cell lines with fitness changed by GABRB3 gene knockdown relative to other cell lines from the Achilles Cell Line Gene Essentiality Profiles dataset.
	Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of GABRB3 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 GABRB3 gene relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray	tissue samples with high or low expression of GABRB3 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 GABRB3 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 GABRB3 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 GABRB3 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 GABRB3 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 GABRB3 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 GABRB3 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 GABRB3 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with GABRB3 gene from the CellMarker Gene-Cell Type Associations dataset.
	ChEA Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of GABRB3 gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of GABRB3 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 GABRB3 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 GABRB3 gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing GABRB3 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing GABRB3 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with GABRB3 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025	cellular components co-occuring with GABRB3 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 GABRB3 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Chemical Interactions	chemicals interacting with GABRB3 gene/protein from the curated CTD Gene-Chemical Interactions dataset.
	CTD Gene-Disease Associations	diseases associated with GABRB3 gene/protein from the curated CTD Gene-Disease Associations dataset.
	dbGAP Gene-Trait Associations	traits associated with GABRB3 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 GABRB3 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores	diseases involving GABRB3 gene from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores 2025	diseases involving GABRB3 gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores	diseases co-occuring with GABRB3 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 GABRB3 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 GABRB3 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with GABRB3 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset.
	DrugBank Drug Targets	interacting drugs for GABRB3 protein from the curated DrugBank Drug Targets dataset.
	ENCODE Histone Modification Site Profiles	histone modification site profiles with high histone modification abundance at GABRB3 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 GABRB3 gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of GABRB3 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 GABRB3 from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset.
	GAD Gene-Disease Associations	diseases associated with GABRB3 gene in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
	GAD High Level Gene-Disease Associations	diseases associated with GABRB3 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 GABRB3 gene relative to other cell lines from the GDSC Cell Line Gene Expression Profiles dataset.
	GeneRIF Biological Term Annotations	biological terms co-occuring with GABRB3 gene in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.