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

Gene

• Entrez ID: 2558
• Gene name: Gamma-aminobutyric acid type A receptor subunit alpha5
• Gene symbol: GABRA5
• Synonyms (NCBI Gene): DEE79, EIEE79
• Disease Acronyms (UniProt): DEE79
• 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

SNPs

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

miRNA

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

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001662	Process	Behavioral fear response	IEA
GO:0004890	Function	GABA-A receptor activity	IBA	21873635
GO:0005215	Function	Transporter activity	TAS	1321750
GO:0005237	Function	Inhibitory extracellular ligand-gated ion channel activity	IBA	21873635
GO:0005254	Function	Chloride channel activity	IBA	21873635
GO:0005654	Component	Nucleoplasm	IDA
GO:0005829	Component	Cytosol	IDA
GO:0005886	Component	Plasma membrane	IDA
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:0007420	Process	Brain development	IEA
GO:0007605	Process	Sensory perception of sound	IEA
GO:0008306	Process	Associative learning	IEA
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:0032809	Component	Neuronal cell body membrane	IEA
GO:0034220	Process	Ion transmembrane transport	IBA	21873635
GO:0034707	Component	Chloride channel complex	IEA
GO:0038023	Function	Signaling receptor activity	TAS	1321750
GO:0042391	Process	Regulation of membrane potential	IBA	21873635
GO:0043005	Component	Neuron projection	IBA	21873635
GO:0043524	Process	Negative regulation of neuron apoptotic process	IEA
GO:0045202	Component	Synapse	IBA	21873635
GO:0050811	Function	GABA receptor binding	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:0060119	Process	Inner ear receptor cell development	IEA
GO:0060384	Process	Innervation	IEA
GO:0090102	Process	Cochlea development	IEA
GO:0098794	Component	Postsynapse	IBA	21873635
GO:0098982	Component	GABA-ergic synapse	IEA
GO:0099056	Component	Integral component of presynaptic membrane	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: 137142
• HGNC: 4079
• e!Ensembl: ENSG00000186297

Protein

• UniProt ID: 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

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 term	Disease name	dbSNP ID	References
Autism spectrum disorder	Autism Spectrum Disorders	rs724159978, rs75184679, rs119103221, rs9332964, rs121912562, rs1594344233, rs727504317, rs111033204, rs1801086, rs587784464, rs724159948, rs764659822, rs794727977, rs796052733, rs796052728, rs762292772, rs864321694, rs869312878, rs758432471, rs750896617, rs886039692, rs886039770, rs201037487, rs200483989, rs1057518198, rs1057517708, rs780267761, rs1555910143, rs1057519632, rs775225727, rs751037529, rs1064794848, rs1064795655, rs1131691548, rs1135401811, rs1553248081, rs1454466097, rs1554480537, rs1553578503, rs1553518509, rs774152851, rs1554481395, rs1554464807, rs1554401434, rs1561824498, rs1396313317, rs1564801388, rs1564801473, rs1564950387, rs1565527302, rs1569513495, rs1569305431, rs143944436, rs1563183492, rs1561846159, rs1565819425, rs1562957809, rs1585645641, rs1585016242, rs1595127294, rs1585667374, rs1585653028, rs1585653240, rs1592919048, rs1585645384, rs1789927813	27231709
Autism	Autistic Disorder	rs121964908, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699, rs1553510219, rs1684182454, rs1559060428, rs1553510677, rs1576352885, rs1574152522, rs1574152672, rs1696658542	17353214
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074	31056671
Schizophrenia	Schizophrenia	rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313	11287792
Seizure	Complex partial seizures, Generalized seizures, Visual seizure, Tonic - clonic seizures, Single Seizure	rs587784365, rs28939683, rs74315390, rs28939684, rs74315391, rs267607198, rs74315392, rs118192244, rs118192250, rs121917749, rs121917750, rs121917751, rs121917752, rs267606670, rs267607061, rs121912707, rs118192249, rs118192251, rs118192217, rs118192218, rs118192219, rs118192222, rs118192226, rs118192228, rs118192234, rs118192236, rs118192235, rs118192241, rs118192242, rs118192185, rs118192188, rs118192245, rs118192246, rs118192186, rs118192194, rs118192197, rs118192199, rs118192201, rs118192202, rs118192203, rs118192204, rs118192205, rs118192206, rs118192208, rs118192211, rs118192216, rs118192239, rs387906684, rs387906686, rs387906687, rs1596893185, rs387907126, rs387907281, rs397515405, rs587778771, rs730882067, rs730882073, rs397514579, rs397514582, rs587776976, rs398122394, rs121918784, rs121918751, rs121918735, rs398123588, rs587780450, rs61749751, rs587777620, rs727503974, rs730882124, rs794726710, rs794726697, rs794726799, rs794727444, rs794727740, rs796053166, rs794726825, rs796052676, rs796053219, rs796053220, rs796053228, rs796052653, rs759584387, rs796052650, rs796052641, rs796052626, rs796052623, rs796052663, rs796052615, rs796052802, rs797044999, rs797045047, rs797045942, rs797045941, rs118192212, rs797044938, rs777257591, rs864321712, rs879255652, rs886039268, rs886039517, rs886039529, rs199497486, rs886039496, rs886039903, rs886041300, rs769827124, rs886041339, rs886041591, rs587783092, rs1555850151, rs1057516123, rs1057516121, rs1057516115, rs1057516111, rs1057516106, rs1057516105, rs756921902, rs1057516089, rs1057516087, rs1057516080, rs1057516076, rs1060499544, rs1555850512, rs1057517919, rs118192231, rs1057520413, rs1060503101, rs1064796294, rs1064794981, rs1064794632, rs1064797245, rs1131691830, rs1131692231, rs1131691936, rs1554626549, rs1553579225, rs1553531385, rs121918736, rs1554898088, rs1553579282, rs763353895, rs1553463119, rs1554093891, rs77838305, rs1555408401, rs1554627439, rs1554097873, rs1555850403, rs1064794719, rs1315483224, rs1567134495, rs770187706, rs1057518555, rs1576983339, rs1574192005, rs1459374430, rs1586800133, rs1574641522, rs1572096837, rs1572630269, rs1574554892, rs1574556643, rs1574571769, rs1574641605, rs1574697769, rs1574716524, rs1574746733, rs1574746935, rs1574752700, rs1574754680, rs863225030, rs1601545088, rs1600714727, rs1371059392, rs1600767259, rs1339542565, rs1600785769, rs2065899210, rs1600732174, rs1162306056, rs879255709, rs1900111672, rs2066910297, rs1554122080, rs796052941, rs1600789325, rs2082695884, rs1737677036, rs1737495759, rs868389022, rs1737685202, rs1737672350, rs762737130	8985701

Unknown
Disease term	Disease name	Evidence	References	Source
Epileptic encephalopathy	undetermined early-onset epileptic encephalopathy			GenCC
Crohn Disease	Crohn Disease			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
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