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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	2558
Gene name	Gamma-aminobutyric acid type A receptor subunit alpha5
Gene symbol	GABRA5
Synonyms (NCBI Gene)	DEE79EIEE79
Chromosome	15
Chromosome location	15q12
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 (3)

SNP ID	Visualize variation	Clinical significance	Consequence
rs1595438243	G>C,T	Pathogenic	Coding sequence variant, missense variant, intron variant
rs1595438268	C>G	Likely-pathogenic	Coding sequence variant, missense variant, intron variant
rs1595441329	C>T	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant, 3 prime UTR variant

Show/Hide all (69)

miRTarBase ID	miRNA	Experiments	Reference
MIRT537284	hsa-miR-5584-5p	PAR-CLIP	22012620
MIRT537282	hsa-miR-211-3p	PAR-CLIP	22012620
MIRT537280	hsa-miR-4270	PAR-CLIP	22012620
MIRT537281	hsa-miR-4441	PAR-CLIP	22012620
MIRT537279	hsa-miR-6754-5p	PAR-CLIP	22012620
MIRT537278	hsa-miR-1266-5p	PAR-CLIP	22012620
MIRT537277	hsa-miR-4518	PAR-CLIP	22012620
MIRT537276	hsa-miR-6792-5p	PAR-CLIP	22012620
MIRT537275	hsa-miR-4503	PAR-CLIP	22012620
MIRT537274	hsa-miR-670-3p	PAR-CLIP	22012620
MIRT537273	hsa-miR-1238-3p	PAR-CLIP	22012620
MIRT537273	hsa-miR-1238-3p	PAR-CLIP	26701625
MIRT537278	hsa-miR-1266-5p	PAR-CLIP	26701625
MIRT537282	hsa-miR-211-3p	PAR-CLIP	26701625
MIRT537280	hsa-miR-4270	PAR-CLIP	26701625
MIRT537281	hsa-miR-4441	PAR-CLIP	26701625
MIRT537275	hsa-miR-4503	PAR-CLIP	26701625
MIRT537277	hsa-miR-4518	PAR-CLIP	26701625
MIRT537284	hsa-miR-5584-5p	PAR-CLIP	26701625
MIRT537274	hsa-miR-670-3p	PAR-CLIP	26701625
MIRT537279	hsa-miR-6754-5p	PAR-CLIP	26701625
MIRT537276	hsa-miR-6792-5p	PAR-CLIP	26701625
MIRT537273	hsa-miR-1238-3p	PAR-CLIP	27292025
MIRT537273	hsa-miR-1238-3p	PAR-CLIP	27292025
MIRT537278	hsa-miR-1266-5p	PAR-CLIP	27292025
MIRT537278	hsa-miR-1266-5p	PAR-CLIP	27292025
MIRT537282	hsa-miR-211-3p	PAR-CLIP	27292025
MIRT537282	hsa-miR-211-3p	PAR-CLIP	27292025
MIRT537280	hsa-miR-4270	PAR-CLIP	27292025
MIRT537280	hsa-miR-4270	PAR-CLIP	27292025
MIRT537281	hsa-miR-4441	PAR-CLIP	27292025
MIRT537281	hsa-miR-4441	PAR-CLIP	27292025
MIRT537275	hsa-miR-4503	PAR-CLIP	27292025
MIRT537275	hsa-miR-4503	PAR-CLIP	27292025
MIRT537277	hsa-miR-4518	PAR-CLIP	27292025
MIRT537277	hsa-miR-4518	PAR-CLIP	27292025
MIRT537284	hsa-miR-5584-5p	PAR-CLIP	27292025
MIRT537284	hsa-miR-5584-5p	PAR-CLIP	27292025
MIRT537274	hsa-miR-670-3p	PAR-CLIP	27292025
MIRT537274	hsa-miR-670-3p	PAR-CLIP	27292025
MIRT537279	hsa-miR-6754-5p	PAR-CLIP	27292025
MIRT537279	hsa-miR-6754-5p	PAR-CLIP	27292025
MIRT537276	hsa-miR-6792-5p	PAR-CLIP	27292025
MIRT537276	hsa-miR-6792-5p	PAR-CLIP	27292025
MIRT537284	hsa-miR-5584-5p	PAR-CLIP	22012620
MIRT537282	hsa-miR-211-3p	PAR-CLIP	22012620
MIRT537280	hsa-miR-4270	PAR-CLIP	22012620
MIRT537281	hsa-miR-4441	PAR-CLIP	22012620
MIRT537279	hsa-miR-6754-5p	PAR-CLIP	22012620
MIRT537278	hsa-miR-1266-5p	PAR-CLIP	22012620
MIRT537277	hsa-miR-4518	PAR-CLIP	22012620
MIRT537276	hsa-miR-6792-5p	PAR-CLIP	22012620
MIRT537275	hsa-miR-4503	PAR-CLIP	22012620
MIRT537274	hsa-miR-670-3p	PAR-CLIP	22012620
MIRT537273	hsa-miR-1238-3p	PAR-CLIP	22012620
MIRT1999162	hsa-miR-1272	CLIP-seq
MIRT1999163	hsa-miR-1322	CLIP-seq
MIRT1999164	hsa-miR-3171	CLIP-seq
MIRT1999165	hsa-miR-4652-3p	CLIP-seq
MIRT2388338	hsa-miR-1293	CLIP-seq
MIRT2388339	hsa-miR-196a	CLIP-seq
MIRT2388340	hsa-miR-196b	CLIP-seq
MIRT2388341	hsa-miR-3151	CLIP-seq
MIRT2388342	hsa-miR-3650	CLIP-seq
MIRT2388343	hsa-miR-4447	CLIP-seq
MIRT2388344	hsa-miR-4472	CLIP-seq
MIRT2388345	hsa-miR-4483	CLIP-seq
MIRT2388346	hsa-miR-4727-3p	CLIP-seq
MIRT2388347	hsa-miR-491-5p	CLIP-seq

Show/Hide all (59)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001662	Process	Behavioral fear response	IEA
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:0005654	Component	Nucleoplasm	IDA
GO:0005829	Component	Cytosol	IDA
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	1321750
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006821	Process	Chloride transport	IEA
GO:0007165	Process	Signal transduction	TAS	1321750
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:0007268	Process	Chemical synaptic transmission	IEA
GO:0008306	Process	Associative learning	IEA
GO:0008503	Function	Benzodiazepine receptor activity	IBA
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:0030425	Component	Dendrite	IEA
GO:0032590	Component	Dendrite membrane	IBA
GO:0032809	Component	Neuronal cell body membrane	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034707	Component	Chloride channel complex	IEA
GO:0038023	Function	Signaling receptor activity	IEA
GO:0038023	Function	Signaling receptor activity	TAS	1321750
GO:0042734	Component	Presynaptic membrane	IEA
GO:0043235	Component	Receptor complex	IEA
GO:0044297	Component	Cell body	IEA
GO:0045202	Component	Synapse	IEA
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0048666	Process	Neuron development	IEA
GO:0050811	Function	GABA receptor binding	IEA
GO:0051932	Process	Synaptic transmission, GABAergic	IBA
GO:0060078	Process	Regulation of postsynaptic membrane potential	IEA
GO:0060119	Process	Inner ear receptor cell development	IEA
GO:0060384	Process	Innervation	IEA
GO:0090102	Process	Cochlea development	IEA
GO:0098794	Component	Postsynapse	IBA
GO:0098982	Component	GABA-ergic synapse	IEA
GO:0099505	Process	Regulation of presynaptic membrane potential	IEA
GO:0099507	Function	Ligand-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential	IDA	17681556
GO:0099507	Function	Ligand-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential	IMP	17681556
GO:0099507	Function	Ligand-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential	NAS	17681556
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
137142	4079	ENSG00000186297

P31644

Protein name

Gamma-aminobutyric acid receptor subunit alpha-5 (GABA(A) receptor subunit alpha-5) (GABAAR subunit alpha-5)

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:14993607, PubMed:29961870, PubMed:30140029, PubMed:31056671). GABA-gated chlori

PDB

5O8F , 5OJM , 6A96 , 8BEJ , 8BGI , 8BHA , 8BHB , 8BHG , 8BHI , 8BHK , 8BHM , 8BHO , 8BHQ , 8BHR , 8BHS

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02931	Neur_chan_LBD	49 → 257	Neurotransmitter-gated ion-channel ligand binding domain	Family
PF02932	Neur_chan_memb	264 → 374	Neurotransmitter-gated ion-channel transmembrane region	Family

Sequence

MDNGMFSGFIMIKNLLLFCISMNLSSHFGFSQMPTSSVKDETNDNITIFTRILDGLLDGY
DNRLRPGLGERITQVRTDIYVTSFGPVSDTEMEYTIDVFFRQSWKDERLRFKGPMQRLPL
NNLLASKIWTPDTFFHNGKKSIAHNMTTPNKLLRLEDDGTLLYTMRLTISAECPMQLEDF
PMDAHACPLKFGSYAYPNSEVVYVWTNGSTKSVVVAEDGSRLNQYHLMGQTVGTENISTS
TGEYTIMTAHFHLKRKIGYFVIQTYLPCIMTVILSQVSFWLNRESVPARTVFGVTTVLTM
TTLSISARNSLPKVAYATAMDWFIAVCYAFVFSALIEFATVNYFTKRGWAWDGKKALEAA
KIKKKREVILNKSTNAFTTGKMSHPPNIPKEQTPAGTSNTTSVSVKPSEEKTSESKKTYN
SISKIDKMSRIVFPVLFGTFNLVYWATYLNREPVIKGAASPK

Sequence length

462

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
Developmental and epileptic encephalopathy, 79	Pathogenic; Likely pathogenic	rs1595438268, rs1595438243, rs1595441329	RCV002272577 RCV000850105 RCV000850106 RCV000850107 RCV000986170

Show/Hide Unknown Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Autism spectrum disorder	Likely benign	rs2504349112	RCV003128053
Focal epilepsy	Uncertain significance	rs762861847	RCV005626289
GABRA5-related disorder	Benign; Likely benign; Uncertain significance	rs202172745, rs2504169040	RCV003916423 RCV003973815
Schizophrenia	Uncertain significance	rs2504221828	RCV002463517
Seizure	Uncertain significance	rs2504349769	RCV004555901

Show/Hide Text Mining Associations (20)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Agnosia	Associate	38482990
Angelman Syndrome	Associate	15607424, 30826071
Attention Deficit Disorder with Hyperactivity	Associate	28607477
Autism Spectrum Disorder	Associate	28607477
Autistic Disorder	Associate	16080114, 20066485, 25124326
Bipolar Disorder	Associate	19078961, 38482990
Bohring syndrome	Associate	32938993
Brain Diseases	Associate	31056671
Cognition Disorders	Associate	38482990
Developmental Disabilities	Associate	29961870
Epilepsy	Associate	29961870
Intellectual Disability	Associate	38482990
Isodicentric Chromosome 15 Syndrome	Stimulate	23663378
Medulloblastoma	Associate	30725256, 37083768
Nervous System Diseases	Associate	25124326
Neurocognitive Disorders	Associate	38482990
Panic Disorder	Associate	24755890
Paragangliomas 3	Associate	30725256
Prostatic Neoplasms	Associate	38482990
Psychogenic Nonepileptic Seizures	Associate	32938993

GABRA5 (gamma-aminobutyric acid type A receptor subunit alpha5)