Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	2556
Gene name	Gamma-aminobutyric acid type A receptor subunit alpha3
Gene symbol	GABRA3
Synonyms (NCBI Gene)	EPILX2
Chromosome	X
Chromosome location	Xq28
Summary	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 GA

Show/Hide all (22)

miRTarBase ID	miRNA	Experiments	Reference
MIRT029587	hsa-miR-26b-5p	Microarray	19088304
MIRT449687	hsa-miR-5692a	PAR-CLIP	22100165
MIRT449686	hsa-miR-1273e	PAR-CLIP	22100165
MIRT449687	hsa-miR-5692a	PAR-CLIP	22100165
MIRT449686	hsa-miR-1273e	PAR-CLIP	22100165
MIRT1009787	hsa-miR-1207-5p	CLIP-seq
MIRT1009788	hsa-miR-3184	CLIP-seq
MIRT1009789	hsa-miR-3614-3p	CLIP-seq
MIRT1009790	hsa-miR-3652	CLIP-seq
MIRT1009791	hsa-miR-423-5p	CLIP-seq
MIRT1009792	hsa-miR-4430	CLIP-seq
MIRT1009793	hsa-miR-4492	CLIP-seq
MIRT1009794	hsa-miR-4498	CLIP-seq
MIRT1009795	hsa-miR-4638-3p	CLIP-seq
MIRT1009796	hsa-miR-4727-5p	CLIP-seq
MIRT1009797	hsa-miR-4736	CLIP-seq
MIRT1009798	hsa-miR-4740-3p	CLIP-seq
MIRT1009799	hsa-miR-4753-3p	CLIP-seq
MIRT1009800	hsa-miR-4763-3p	CLIP-seq
MIRT1009801	hsa-miR-4769-3p	CLIP-seq
MIRT1009802	hsa-miR-762	CLIP-seq
MIRT1009803	hsa-miR-942	CLIP-seq

Show/Hide all (40)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004888	Function	Transmembrane signaling receptor activity	IEA
GO:0004890	Function	GABA-A receptor activity	IDA	16412217
GO:0004890	Function	GABA-A receptor activity	IEA
GO:0004890	Function	GABA-A receptor activity	ISS
GO:0005216	Function	Monoatomic ion channel activity	IEA
GO:0005230	Function	Extracellular ligand-gated monoatomic ion channel activity	IEA
GO:0005254	Function	Chloride channel activity	IBA
GO:0005254	Function	Chloride channel activity	IEA
GO:0005515	Function	Protein binding	IPI	26613940
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	8391122
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006821	Process	Chloride transport	IEA
GO:0007214	Process	Gamma-aminobutyric acid signaling pathway	IBA
GO:0007214	Process	Gamma-aminobutyric acid signaling pathway	IEA
GO:0007214	Process	Gamma-aminobutyric acid signaling pathway	ISS
GO:0007214	Process	Gamma-aminobutyric acid signaling pathway	TAS	8391122
GO:0008503	Function	Benzodiazepine receptor activity	IBA
GO:0008503	Function	Benzodiazepine receptor activity	TAS	8391122
GO:0016020	Component	Membrane	IEA
GO:0022851	Function	GABA-gated chloride ion channel activity	IBA
GO:0022851	Function	GABA-gated chloride ion channel activity	IDA	16412217
GO:0022851	Function	GABA-gated chloride ion channel activity	IMP	29053855
GO:0022851	Function	GABA-gated chloride ion channel activity	ISS
GO:0032590	Component	Dendrite membrane	IBA
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034707	Component	Chloride channel complex	IEA
GO:0038023	Function	Signaling receptor activity	IEA
GO:0045202	Component	Synapse	IEA
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0051932	Process	Synaptic transmission, GABAergic	IBA
GO:0060078	Process	Regulation of postsynaptic membrane potential	IEA
GO:0098794	Component	Postsynapse	IBA
GO:0098982	Component	GABA-ergic synapse	IEA
GO:0099634	Component	Postsynaptic specialization membrane	IEA
GO:1902476	Process	Chloride transmembrane transport	IBA
GO:1902711	Component	GABA-A receptor complex	IBA
GO:1902711	Component	GABA-A receptor complex	ISS
GO:1904315	Function	Transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential	IEA
GO:1904862	Process	Inhibitory synapse assembly	IBA

MIM	HGNC	e!Ensembl
305660	4077	ENSG00000011677

P34903

Protein name

Gamma-aminobutyric acid receptor subunit alpha-3 (GABA(A) receptor subunit alpha-3) (GABAAR subunit alpha-3)

Protein function

Alpha subunit of the heteropentameric ligand-gated chloride channel gated by gamma-aminobutyric acid (GABA), a major inhibitory neurotransmitter in the brain (PubMed:16412217, PubMed:29053855). GABA-gated chloride channels, also named GABA(A) re

PDB

9CTP

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02931	Neur_chan_LBD	67 → 275	Neurotransmitter-gated ion-channel ligand binding domain	Family
PF02932	Neur_chan_memb	282 → 425	Neurotransmitter-gated ion-channel transmembrane region	Family

Sequence

MIITQTSHCYMTSLGILFLINILPGTTGQGESRRQEPGDFVKQDIGGLSPKHAPDIPDDS
TDNITIFTRILDRLLDGYDNRLRPGLGDAVTEVKTDIYVTSFGPVSDTDMEYTIDVFFRQ
TWHDERLKFDGPMKILPLNNLLASKIWTPDTFFHNGKKSVAHNMTTPNKLLRLVDNGTLL
YTMRLTIHAECPMHLEDFPMDVHACPLKFGSYAYTTAEVVYSWTLGKNKSVEVAQDGSRL
NQYDLLGHVVGTEIIRSSTGEYVVMTTHFHLKRKIGYFVIQTYLPCIMTVILSQVSFWLN
RESVPARTVFGVTTVLTMTTLSISARNSLPKVAYATAMDWFIAVCYAFVFSALIEFATVN
YFTKRSWAWEGKKVPEALEMKKKTPAAPAKKTSTTFNIVGTTYPINLAKDTEFSTISKGA
APSASSTPTIIASPKATYVQDSPTETKTYNSVSKVDKISRIIFPVLFAIFNLVYWATYVN
RESAIKGMIRKQ

Sequence length

492

Interactions

View interactions

	KEGG		Reactome
	Neuroactive ligand-receptor interaction Retrograde endocannabinoid signaling GABAergic synapse Taste transduction Morphine addiction Nicotine addiction		GABA receptor activation

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features	Pathogenic; Likely pathogenic	rs1193521522, rs2521621423, rs2521596611, rs1936960785	RCV002444400 RCV002444402 RCV003322672 RCV002447242

Show/Hide Unknown Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
GABRA3-related disorder	Uncertain significance; Likely benign; Benign	rs2124347030, rs2520535695, rs200560398, rs76096542, rs61734348, rs140051848, rs200630597	RCV001787407 RCV003400258 RCV003969160 RCV003905872 RCV003960715 RCV003940543 RCV003970472

Show/Hide Text Mining Associations (24)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Agnosia	Associate	38482990
Autism Spectrum Disorder	Associate	23169495
Bipolar Disorder	Associate	11602034, 38482990
Carcinoma Hepatocellular	Associate	19084931
Carcinoma Non Small Cell Lung	Associate	23617850
Cognition Disorders	Associate	38482990
Fragile X Syndrome	Associate	2574000
Inflammation	Associate	34174930
Intellectual Disability	Associate	38482990
Lung Neoplasms	Stimulate	19048400
Lung Neoplasms	Associate	25089631
Major Affective Disorder 2	Associate	2574000
Melanoma	Stimulate	25089631
Mental Disorders	Associate	2574000
Migraine Disorders	Associate	19087248, 24040174
Neoplasms	Associate	25089631, 34098061, 34462486, 36155774
Neurocognitive Disorders	Associate	38482990
Pre Eclampsia	Associate	25323968
Preeclamptic toxemia	Inhibit	25323968
Rett Syndrome	Associate	10745042
Sarcoma	Associate	36155774
Schizophrenia	Associate	23169495, 34174930
Stomach Neoplasms	Associate	28800320, 34098061
Triple Negative Breast Neoplasms	Associate	31841197

GABRA3 (gamma-aminobutyric acid type A receptor subunit alpha3)