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

Gene Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	2556
Gene name Gene Name - the full gene name approved by the HGNC.	Gamma-aminobutyric acid type A receptor subunit alpha3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	GABRA3
Synonyms (NCBI Gene) Gene synonyms aliases	EPILX2
Disease Acronyms (UniProt) Disease acronyms from UniProt database	EPILX2
Chromosome Chromosome number	X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	Xq28
Summary Summary of gene provided in NCBI Entrez Gene.	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(27)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004890	Function	GABA-A receptor activity	IBA	21873635
GO:0005237	Function	Inhibitory extracellular ligand-gated ion channel activity	IBA	21873635
GO:0005254	Function	Chloride channel activity	IBA	21873635
GO:0005515	Function	Protein binding	IPI	26613940
GO:0005886	Component	Plasma membrane	TAS
GO:0005887	Component	Integral component of plasma membrane	IBA	21873635
GO:0007165	Process	Signal transduction	IBA	21873635
GO:0007214	Process	Gamma-aminobutyric acid signaling pathway	IBA	21873635
GO:0007268	Process	Chemical synaptic transmission	IBA	21873635
GO:0008503	Function	Benzodiazepine receptor activity	IBA	21873635
GO:0022851	Function	GABA-gated chloride ion channel activity	IBA	21873635
GO:0030594	Function	Neurotransmitter receptor activity	IBA	21873635
GO:0032590	Component	Dendrite membrane	IBA	21873635
GO:0034220	Process	Ion transmembrane transport	IBA	21873635
GO:0034707	Component	Chloride channel complex	IEA
GO:0042391	Process	Regulation of membrane potential	IBA	21873635
GO:0043005	Component	Neuron projection	IBA	21873635
GO:0045202	Component	Synapse	IBA	21873635
GO:0050877	Process	Nervous system process	IBA	21873635
GO:0051932	Process	Synaptic transmission, GABAergic	IBA	21873635
GO:0060078	Process	Regulation of postsynaptic membrane potential	IBA	21873635
GO:0098794	Component	Postsynapse	IBA	21873635
GO:0098982	Component	GABA-ergic synapse	IEA
GO:0099060	Component	Integral component of postsynaptic specialization membrane	IEA
GO:1902476	Process	Chloride transmembrane transport	IBA	21873635
GO:1902711	Component	GABA-A receptor complex	IBA	21873635
GO:1904315	Function	Transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential	IBA	21873635

MIM	HGNC	e!Ensembl
305660	4077	ENSG00000011677

Protein

UniProt ID

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 (4)

Disease term	Disease name	dbSNP ID	References
Causal
Atrioventricular block	Second degree atrioventricular block	rs766840243, rs763809932
Autism	Autistic Disorder	rs121964908, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699 View all (8 more)	18821008
Obesity	Obesity	rs74315349, rs1474810899, rs121918111, rs796065034, rs753856820, rs796065035, rs121918112, rs104894023, rs137852821, rs1580764441, rs137852822, rs137852823, rs137852824, rs13447324, rs121913562 View all (27 more)
Ventricular fibrillation	Ventricular Fibrillation	rs137854604, rs587782933, rs190140598

Show/Hide Unknown Diseases (2)

Disease term	Disease name	References	Source
Unknown
Mental depression	Mental Depression, Depressive disorder	20512339	ClinVar
Thyrotoxic periodic paralysis	Thyrotoxic periodic paralysis	17970773	ClinVar

Show/Hide Text Mining Associations (24)

Disease Name	Relationship Type	References
Associations from Text Mining
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)