GABRA3 (gamma-aminobutyric acid type A receptor subunit alpha3)

Gene

• Entrez ID: 2556
• Gene name: Gamma-aminobutyric acid type A receptor subunit alpha3
• Gene symbol: GABRA3
• Synonyms: EPILX2
• Chromosome: X
• Chromosome location: Xq28
• 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

miRNA

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

Gene ontology (GO)

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

Other IDs

• MIM: 305660
• HGNC: 4077
• e!Ensembl: 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

Pathways

KEGG:

Neuroactive ligand-receptor interaction
Retrograde endocannabinoid signaling
GABAergic synapse
Taste transduction
Morphine addiction
Nicotine addiction

Reactome:

GABA receptor activation

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Atrioventricular block	Second degree atrioventricular block	rs766840243, rs763809932
Autism	Autistic Disorder	rs121964908, rs121912597, rs2710102, rs7794745, rs142990298, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699, rs1553510219, rs1684182454, rs1559060428, rs1553510677, rs1576352885, rs1574152522, rs1574152672, rs1696658542, rs1751123722, rs1750373491, rs1751075634	18821008
Obesity	Obesity	rs34911341, rs74315349, rs1474810899, rs2282440, rs2491132, rs121918111, rs796065034, rs753856820, rs796065035, rs121918112, rs104894023, rs137852821, rs1580764441, rs137852822, rs137852823, rs137852824, rs13447324, rs121913562, rs121913564, rs74315393, rs121913556, rs2989924, rs193922650, rs193922685, rs193922687, rs751160202, rs1421085, rs747681609, rs1553400259, rs13447339, rs370479598, rs1554394014, rs1553174844, rs756232889, rs369841551, rs1557670950, rs1571321748, rs148538980, rs1572820988, rs1591461970, rs1419374563, rs745921568, rs144159890, rs1570714352, rs779783209, rs1573250294, rs1573254045, rs1580744791, rs1580746829, rs6548238, rs7138803, rs7754840
Thyrotoxic periodic paralysis	Thyrotoxic periodic paralysis	rs527236153, rs527236158, rs672601244, rs527236159, rs28986463	17970773
Ventricular fibrillation	Ventricular Fibrillation	rs137854604, rs587782933, rs190140598

Unknown
Disease name	Disease term	dbSNP ID	References
Bipolar disorder	Bipolar Disorder		11602034, 11840313, 8546157, 2574000, 15048654
Graves disease	Graves Disease
Mental depression	Mental Depression, Depressive disorder	rs587778876, rs587778877	20512339
Periodic hypokalemic paresis	Periodic hypokalemic paresis
Quadriplegia	Quadriplegia
Thyrotoxicosis with toxic single thyroid nodule	Thyrotoxicosis with toxic single thyroid nodule
Toxic goiter	Toxic multinodular goiter