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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	2555
Gene name Gene Name - the full gene name approved by the HGNC.	Gamma-aminobutyric acid type A receptor subunit alpha2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	GABRA2
Synonyms (NCBI Gene) Gene synonyms aliases	DEE78, EIEE78
Disease Acronyms (UniProt) Disease acronyms from UniProt database	DEE78
Chromosome Chromosome number	4
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	4p12
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(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(33)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001505	Process	Regulation of neurotransmitter levels	IMP	8391122
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:0005886	Component	Plasma membrane	TAS
GO:0005887	Component	Integral component of plasma membrane	IBA	21873635
GO:0006836	Process	Neurotransmitter transport	IMP	8391122
GO:0007165	Process	Signal transduction	IBA	21873635
GO:0007214	Process	Gamma-aminobutyric acid signaling pathway	IBA	21873635
GO:0007214	Process	Gamma-aminobutyric acid signaling pathway	IMP	8391122
GO:0007268	Process	Chemical synaptic transmission	IBA	21873635
GO:0008503	Function	Benzodiazepine receptor activity	IMP	8391122
GO:0022851	Function	GABA-gated chloride ion channel activity	IBA	21873635
GO:0022851	Function	GABA-gated chloride ion channel activity	IDA	9039914
GO:0030285	Component	Integral component of synaptic vesicle membrane	IDA	8391122
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:0045211	Component	Postsynaptic membrane	IEA
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:1902476	Process	Chloride transmembrane transport	IBA	21873635
GO:1902476	Process	Chloride transmembrane transport	IDA	9039914
GO:1902711	Component	GABA-A receptor complex	IBA	21873635
GO:1902711	Component	GABA-A receptor complex	IDA	9039914
GO:1904315	Function	Transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential	IBA	21873635
GO:1904862	Process	Inhibitory synapse assembly	ISS

MIM	HGNC	e!Ensembl
137140	4076	ENSG00000151834

Protein

UniProt ID

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 (5)

Disease term	Disease name	dbSNP ID	References
Causal
Alzheimer disease	Alzheimer`s Disease	rs63750215, rs28936379, rs63749851, rs63749884, rs28936380, rs63750048, rs63750579, rs63750264, rs63749964, rs63750671, rs281865161, rs63750066, rs63750399, rs63750734, rs63751039 View all (65 more)	26830138
Autism	Autistic Disorder	rs121964908, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699 View all (8 more)	18821008
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291 View all (32 more)	678219
Epilepsy	Epilepsy, Generalized	rs113994140, rs28937874, rs1589762127, rs104894166, rs28939075, rs2134001459, rs104894167, rs119488099, rs119488100, rs387906420, rs121917752, rs121918622, rs281865564, rs387907313, rs397514670 View all (165 more)	30531953
Mental retardation	Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315 View all (1024 more)	678219

Show/Hide Unknown Diseases (4)

Disease term	Disease name	Evidence	Source
Unknown
Epileptic encephalopathy	undetermined early-onset epileptic encephalopathy		GenCC
Uterine Fibroids	Uterine Fibroids		GWAS
Glioblastoma	Glioblastoma	CRISPR screening of E3 ubiquitin ligases reveals Ring Finger Protein 185 as a novel tumor suppressor in glioblastoma repressed by promoter hypermethylation and miR-587	GWAS, CBGDA
Myoclonic Epilepsy	Myoclonic Epilepsy		GWAS

Show/Hide Text Mining Associations (24)

Disease Name	Relationship Type	References
Associations from Text Mining
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)