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

Gene Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	55879
Gene name Gene Name - the full gene name approved by the HGNC.	Gamma-aminobutyric acid type A receptor subunit theta
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	GABRQ
Synonyms (NCBI Gene) Gene synonyms aliases	THETA
Chromosome Chromosome number	X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	Xq28
Summary Summary of gene provided in NCBI Entrez Gene.	The gamma-aminobutyric acid (GABA) A receptor is a multisubunit chloride channel that mediates the fastest inhibitory synaptic transmission in the central nervous system. This gene encodes the theta subunit of the GABA A receptor. The gene is mapped to ch

Show/Hide all(1)

miRTarBase ID	miRNA	Experiments	Reference
MIRT017369	hsa-miR-335-5p	Microarray	18185580

Show/Hide all(22)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004888	Function	Transmembrane signaling receptor activity	TAS	10449790
GO:0004890	Function	GABA-A receptor activity	IBA	21873635
GO:0005230	Function	Extracellular ligand-gated ion channel activity	IEA
GO:0005254	Function	Chloride channel activity	IBA	21873635
GO:0005326	Function	Neurotransmitter transmembrane transporter activity	TAS	10449790
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005886	Component	Plasma membrane	TAS
GO:0005887	Component	Integral component of plasma membrane	IBA	21873635
GO:0006836	Process	Neurotransmitter transport	IEA
GO:0007165	Process	Signal transduction	IBA	21873635
GO:0007268	Process	Chemical synaptic transmission	IBA	21873635
GO:0030594	Function	Neurotransmitter receptor activity	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:0043235	Component	Receptor complex	IDA	23382219
GO:0045202	Component	Synapse	IBA	21873635
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0050877	Process	Nervous system process	IBA	21873635
GO:1902476	Process	Chloride transmembrane transport	IBA	21873635
GO:1902711	Component	GABA-A receptor complex	IBA	21873635

MIM	HGNC	e!Ensembl
300349	14454	ENSG00000268089

Protein

UniProt ID

Q9UN88

Protein name

Gamma-aminobutyric acid receptor subunit theta (GABA(A) receptor subunit theta) (GABAAR subunit theta)

Protein function

Theta subunit of the heteropentameric ligand-gated chloride channel gated by gamma-aminobutyric acid (GABA), a major inhibitory neurotransmitter in the brain (PubMed:10449790, PubMed:16412217). GABA-gated chloride channels, also named GABA(A) re

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02931	Neur_chan_LBD	59 → 265	Neurotransmitter-gated ion-channel ligand binding domain	Family
PF02932	Neur_chan_memb	272 → 579	Neurotransmitter-gated ion-channel transmembrane region	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in brain. {ECO:0000269|PubMed:10449790, ECO:0000269|PubMed:10804200}.

Sequence

MGIRGMLRAAVILLLIRTWLAEGNYPSPIPKFHFEFSSAVPEVVLNLFNCKNCANEAVVQ
KILDRVLSRYDVRLRPNFGGAPVPVRISIYVTSIEQISEMNMDYTITMFFHQTWKDSRLA
YYETTLNLTLDYRMHEKLWVPDCYFLNSKDAFVHDVTVENRVFQLHPDGTVRYGIRLTTT
AACSLDLHKFPMDKQACNLVVESYGYTVEDIILFWDDNGNAIHMTEELHIPQFTFLGRTI
TSKEVYFYTGSYIRLILKFQVQREVNSYLVQVYWPTVLTTITSWISFWMNYDSSAARVTI
GLTSMLILTTIDSHLRDKLPNISCIKAIDIYILVCLFFVFLSLLEYVYINYLFYSRGPRR
QPRRHRRPRRVIARYRYQQVVVGNVQDGLINVEDGVSSLPITPAQAPLASPESLGSLTST
SEQAQLATSESLSPLTSLSGQAPLATGESLSDLPSTSEQARHSYGVRFNGFQADDSIFPT
EIRNRVEAHGHGVTHDHEDSNESLSSDERHGHGPSGKPMLHHGEKGVQEAGWDLDDNNDK
SDCLAIKEQFKCDTNSTWGLNDDELMAHGQEKDSSSESEDSCPPSPGCSFTEGFSFDLFN
PDYVPKVDKWSRFLFPLAFGLFNIVYWVYHMY

Sequence length

632

Interactions

View interactions

	KEGG		Reactome
	Neuroactive ligand-receptor interaction Retrograde endocannabinoid signaling GABAergic synapse Morphine addiction Nicotine addiction		GABA receptor activation

Show/Hide Causal Diseases (4)

Disease term	Disease name	dbSNP ID	References
Causal
Atrial septal defect	Atrial Septal Defects, ATRIAL SEPTAL DEFECT 1	rs137852951, rs137852953, rs137852955, rs267607106, rs104893900, rs104893901, rs104893903, rs606231358, rs606231359, rs137852683, rs606231360, rs104893907, rs104894073, rs1585703301, rs104894074 View all (25 more)	26350204
Autism spectrum disorder	Autism Spectrum Disorders	rs724159978, rs75184679, rs119103221, rs9332964, rs121912562, rs1594344233, rs727504317, rs111033204, rs1801086, rs587784464, rs724159948, rs764659822, rs794727977, rs796052733, rs796052728 View all (51 more)	26350204
Migraine	Migraine Disorders	rs794727411	26350204
Schizophrenia	Schizophrenia	rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346 View all (12 more)	26350204

Show/Hide Text Mining Associations (10)

Disease Name	Relationship Type	References
Associations from Text Mining
Alzheimer Disease	Stimulate	35152451
Autism Spectrum Disorder	Associate	33772085
C9 Deficiency	Inhibit	31066065
Fabry Disease	Associate	40233852
Frontotemporal Dementia	Associate	31066065, 35152451
Frontotemporal Lobar Degeneration	Inhibit	35152451
Migraine Disorders	Associate	19087248, 24040174
Motor Neuron Disease	Associate	31066065
Personality Disorders	Associate	33450964
Prostatic Neoplasms	Associate	33450964

GABRQ (gamma-aminobutyric acid type A receptor subunit theta)