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	2567
Gene name	Gamma-aminobutyric acid type A receptor subunit gamma3
Gene symbol	GABRG3
Synonyms (NCBI Gene)	-
Chromosome	15
Chromosome location	15q12
Summary	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 mo

Show/Hide all (6)

miRTarBase ID	miRNA	Experiments	Reference
MIRT030026	hsa-miR-26b-5p	Microarray	19088304
MIRT1999199	hsa-miR-3591-3p	CLIP-seq
MIRT1999200	hsa-miR-450b-5p	CLIP-seq
MIRT1999201	hsa-miR-4708-3p	CLIP-seq
MIRT2232883	hsa-miR-4275	CLIP-seq
MIRT1999199	hsa-miR-3591-3p	CLIP-seq

Show/Hide all (37)

GO ID	Ontology	Definition	Evidence
GO:0004888	Function	Transmembrane signaling receptor activity	IEA
GO:0004890	Function	GABA-A receptor activity	IBA
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:0005730	Component	Nucleolus	IDA
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
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:0008503	Function	Benzodiazepine receptor activity	IBA
GO:0009410	Process	Response to xenobiotic stimulus	IEA
GO:0015630	Component	Microtubule cytoskeleton	IDA
GO:0016020	Component	Membrane	IEA
GO:0022851	Function	GABA-gated chloride ion channel activity	IBA
GO:0022851	Function	GABA-gated chloride ion channel activity	IEA
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: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:0097060	Component	Synaptic membrane	IEA
GO:0098794	Component	Postsynapse	IBA
GO:0098982	Component	GABA-ergic synapse	IEA
GO:1902476	Process	Chloride transmembrane transport	IBA
GO:1902711	Component	GABA-A receptor complex	IBA
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
600233	4088	ENSG00000182256

Q99928

Protein name

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

Protein function

Gamma subunit of the heteropentameric ligand-gated chloride channel gated by gamma-aminobutyric acid (GABA), a major inhibitory neurotransmitter in the brain (By similarity). GABA-gated chloride channels, also named GABA(A) receptors (GABAAR), c

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02931	Neur_chan_LBD	47 → 253	Neurotransmitter-gated ion-channel ligand binding domain	Family
PF02932	Neur_chan_memb	260 → 461	Neurotransmitter-gated ion-channel transmembrane region	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in brain. {ECO:0000269|PubMed:8719414}.

Sequence

MAPKLLLLLCLFSGLHARSRKVEEDEYEDSSSNQKWVLAPKSQDTDVTLILNKLLREYDK
KLRPDIGIKPTVIDVDIYVNSIGPVSSINMEYQIDIFFAQTWTDSRLRFNSTMKILTLNS
NMVGLIWIPDTIFRNSKTAEAHWITTPNQLLRIWNDGKILYTLRLTINAECQLQLHNFPM
DEHSCPLIFSSYGYPKEEMIYRWRKNSVEAADQKSWRLYQFDFMGLRNTTEIVTTSAGDY
VVMTIYFELSRRMGYFTIQTYIPCILTVVLSWVSFWIKKDATPARTALGITTVLTMTTLS
TIARKSLPRVSYVTAMDLFVTVCFLFVFAALMEYATLNYYSSCRKPTTTKKTTSLLHPDS
SRWIPERISLQAPSNYSLLDMRPPPTAMITLNNSVYWQEFEDTCVYECLDGKDCQSFFCC
YEECKSGSWRKGRIHIDILELDSYSRVFFPTSFLLFNLVYWVGYLYL

Sequence length

467

Interactions

View interactions

	KEGG		Reactome
	Neuroactive ligand-receptor interaction Retrograde endocannabinoid signaling GABAergic synapse 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
Angelman syndrome	Pathogenic	rs1891450501	RCV001090086

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
GABRG3-related disorder	Likely benign	rs201602655, rs201427468	RCV003912007 RCV003944157
Malignant tumor of esophagus	Benign	rs35752220	RCV005904927
Melanoma	Benign	rs35752220	RCV005904928

Show/Hide Text Mining Associations (8)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Angelman Syndrome	Associate	30826071
Attention Deficit Disorder with Hyperactivity	Associate	28607477
Autism Spectrum Disorder	Associate	28607477, 35403940
Autistic Disorder	Associate	16080114, 25124326, 30108208
Isodicentric Chromosome 15 Syndrome	Stimulate	23663378
Nervous System Diseases	Associate	25124326
Ovarian Neoplasms	Associate	31469419
Psychotic Disorders	Associate	20631049

GABRG3 (gamma-aminobutyric acid type A receptor subunit gamma3)