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	2555
Gene name	Gamma-aminobutyric acid type A receptor subunit alpha2
Gene symbol	GABRA2
Synonyms (NCBI Gene)	DEE78EIEE78
Chromosome	4
Chromosome location	4p12
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 (8)

SNP ID	Visualize variation	Clinical significance	Consequence
rs279836	T>A,G	Risk-factor	Intron variant
rs279845	T>A,G	Risk-factor	Intron variant
rs279871	T>C	Risk-factor	Intron variant
rs1243977956	G>A,T	Pathogenic	Synonymous variant, missense variant, coding sequence variant
rs1281490675	G>A,C	Pathogenic	Coding sequence variant, missense variant, synonymous variant
rs1560442716	T>G	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs1577800481	G>T	Pathogenic	Coding sequence variant, missense variant
rs1577975808	A>G	Pathogenic	Coding sequence variant, missense variant

Show/Hide all (29)

miRTarBase ID	miRNA	Experiments	Reference
MIRT720748	hsa-miR-205-3p	HITS-CLIP	19536157
MIRT720747	hsa-miR-545-5p	HITS-CLIP	19536157
MIRT720746	hsa-miR-222-5p	HITS-CLIP	19536157
MIRT720745	hsa-miR-30a-3p	HITS-CLIP	19536157
MIRT720744	hsa-miR-30d-3p	HITS-CLIP	19536157
MIRT720743	hsa-miR-30e-3p	HITS-CLIP	19536157
MIRT720748	hsa-miR-205-3p	HITS-CLIP	19536157
MIRT720747	hsa-miR-545-5p	HITS-CLIP	19536157
MIRT720746	hsa-miR-222-5p	HITS-CLIP	19536157
MIRT720745	hsa-miR-30a-3p	HITS-CLIP	19536157
MIRT720744	hsa-miR-30d-3p	HITS-CLIP	19536157
MIRT720743	hsa-miR-30e-3p	HITS-CLIP	19536157
MIRT1009778	hsa-miR-1251	CLIP-seq
MIRT1009779	hsa-miR-216b	CLIP-seq
MIRT1009780	hsa-miR-2964a-5p	CLIP-seq
MIRT1009781	hsa-miR-3160-3p	CLIP-seq
MIRT1009782	hsa-miR-3671	CLIP-seq
MIRT1009783	hsa-miR-3675-3p	CLIP-seq
MIRT1009784	hsa-miR-4666-3p	CLIP-seq
MIRT1009785	hsa-miR-4762-5p	CLIP-seq
MIRT1009786	hsa-miR-607	CLIP-seq
MIRT1009780	hsa-miR-2964a-5p	CLIP-seq
MIRT1009781	hsa-miR-3160-3p	CLIP-seq
MIRT2437362	hsa-miR-3159	CLIP-seq
MIRT2437363	hsa-miR-3167	CLIP-seq
MIRT2437364	hsa-miR-4275	CLIP-seq
MIRT2437365	hsa-miR-556-3p	CLIP-seq
MIRT2437366	hsa-miR-876-5p	CLIP-seq
MIRT2437367	hsa-miR-944	CLIP-seq

Show/Hide all (54)

GO ID	Ontology	Definition	Evidence	Reference
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: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	35384245
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:0007214	Process	Gamma-aminobutyric acid signaling pathway	IMP	8391122
GO:0007214	Process	Gamma-aminobutyric acid signaling pathway	ISS
GO:0008503	Function	Benzodiazepine receptor activity	IMP	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	9039914
GO:0030424	Component	Axon	IEA
GO:0030425	Component	Dendrite	IEA
GO:0030659	Component	Cytoplasmic vesicle membrane	IEA
GO:0030672	Component	Synaptic vesicle membrane	IDA	8391122
GO:0031410	Component	Cytoplasmic vesicle	IEA
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:0042995	Component	Cell projection	IEA
GO:0043025	Component	Neuronal cell body	IEA
GO:0045202	Component	Synapse	IEA
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0051932	Process	Synaptic transmission, GABAergic	IBA
GO:0060077	Component	Inhibitory synapse	IEA
GO:0060078	Process	Regulation of postsynaptic membrane potential	IEA
GO:0098794	Component	Postsynapse	IBA
GO:0098794	Component	Postsynapse	IEA
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	22711532
GO:0099507	Function	Ligand-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential	IMP	22711532
GO:0099507	Function	Ligand-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential	NAS	22711532
GO:0099634	Component	Postsynaptic specialization membrane	IEA
GO:1902476	Process	Chloride transmembrane transport	IBA
GO:1902476	Process	Chloride transmembrane transport	IDA	9039914
GO:1902711	Component	GABA-A receptor complex	IBA
GO:1902711	Component	GABA-A receptor complex	IDA	9039914
GO:1902711	Component	GABA-A receptor complex	ISS
GO:1904315	Function	Transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential	IDA	22711532
GO:1904315	Function	Transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential	IMP	22711532
GO:1904862	Process	Inhibitory synapse assembly	IBA
GO:1904862	Process	Inhibitory synapse assembly	IEA
GO:1904862	Process	Inhibitory synapse assembly	ISS

MIM	HGNC	e!Ensembl
137140	4076	ENSG00000151834

P47869

Protein name

Gamma-aminobutyric acid receptor subunit alpha-2 (GABA(A) receptor subunit alpha-2) (GABAAR subunit alpha-2)

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:10449790, PubMed:29961870, PubMed:31032849). GABA-gated chloride channels, also

PDB

9CRV , 9CSB , 9CT0 , 9CTJ , 9CTV , 9CX7 , 9CXB , 9CXC

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02931	Neur_chan_LBD	42 → 250	Neurotransmitter-gated ion-channel ligand binding domain	Family
PF02932	Neur_chan_memb	257 → 344	Neurotransmitter-gated ion-channel transmembrane region	Family

Sequence

MKTKLNIYNMQFLLFVFLVWDPARLVLANIQEDEAKNNITIFTRILDRLLDGYDNRLRPG
LGDSITEVFTNIYVTSFGPVSDTDMEYTIDVFFRQKWKDERLKFKGPMNILRLNNLMASK
IWTPDTFFHNGKKSVAHNMTMPNKLLRIQDDGTLLYTMRLTVQAECPMHLEDFPMDAHSC
PLKFGSYAYTTSEVTYIWTYNASDSVQVAPDGSRLNQYDLLGQSIGKETIKSSTGEYTVM
TAHFHLKRKIGYFVIQTYLPCIMTVILSQVSFWLNRESVPARTVFGVTTVLTMTTLSISA
RNSLPKVAYATAMDWFIAVCYAFVFSALIEFATVNYFTKRGWAWDGKSVVNDKKKEKASV
MIQNNAYAVAVANYAPNLSKDPVLSTISKSATTPEPNKKPENKPAEAKKTFNSVSKIDRM
SRIVFPVLFGTFNLVYWATYLNREPVLGVSP

Sequence length

451

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 (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Alcohol dependence	Likely pathogenic; Pathogenic	rs2109351409	RCV002250003
Developmental and epileptic encephalopathy, 78	Pathogenic; Likely pathogenic	rs2109626303, rs2109351409, rs2475296327, rs2475627246, rs1577800481, rs1281490675, rs1577975808, rs1243977956	RCV002210941 RCV003333212 RCV003883213 RCV004594856 RCV000850101 RCV000850102 RCV000850103 RCV000850104 RCV001254161
GABRA2-related disorder	Likely pathogenic	rs2475296302	RCV003427927

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Alcoholism, susceptibility to	risk factor	rs279871, rs279845, rs279836	RCV000017605 RCV000017606 RCV000017607
Developmental and epileptic encephalopathy	Uncertain significance	rs1560442716	RCV000754792
Gastric cancer	Likely benign	rs2475296620	RCV005931572

Show/Hide Text Mining Associations (24)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Alcohol Related Disorders	Associate	20716301, 23561058
Alcoholism	Associate	16874763, 18005236, 18361719, 19487630, 19783384, 23134043, 24692236, 26087834, 29947131, 31790348, 36422192
Alcoholism	Stimulate	35301805
Antisocial Personality Disorder	Associate	19783384, 31790348
Anxiety	Associate	16874763
Astrocytoma	Associate	37169070
Autistic Disorder	Associate	25124326
Brain Diseases	Associate	32347641
Conduct Disorder	Associate	19783384
Cutaneous Fistula	Associate	19487630, 23561058, 26075969, 31790348
Developmental Disabilities	Associate	29961870
Disruptive Impulse Control and Conduct Disorders	Associate	22882390, 23561058
Drug Resistant Epilepsy	Stimulate	24613745
Endometrial Neoplasms	Associate	33350104
Epilepsy	Associate	29947131, 29961870
Fibrosis	Associate	35301805
Infantile Epileptic Dyskinetic Encephalopathy	Associate	32347641
Intrahepatic Cholestasis of Pregnancy	Associate	23480690
Nervous System Diseases	Associate	25124326
Obesity	Associate	20716301
Pruritus	Associate	23480690
Spasms Infantile	Associate	35830182
Status Epilepticus	Associate	24613745
Substance Related Disorders	Associate	22882390

GABRA2 (gamma-aminobutyric acid type A receptor subunit alpha2)