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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	2559
Gene name	Gamma-aminobutyric acid type A receptor subunit alpha6
Gene symbol	GABRA6
Synonyms (NCBI Gene)	-
Chromosome	5
Chromosome location	5q34
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 (10)

miRTarBase ID	miRNA	Experiments
MIRT1009918	hsa-miR-124	CLIP-seq
MIRT1009919	hsa-miR-3714	CLIP-seq
MIRT1009920	hsa-miR-3910	CLIP-seq
MIRT1009921	hsa-miR-4477b	CLIP-seq
MIRT1009922	hsa-miR-506	CLIP-seq
MIRT2232854	hsa-miR-586	CLIP-seq
MIRT2437368	hsa-miR-4291	CLIP-seq
MIRT2437369	hsa-miR-545	CLIP-seq
MIRT2437368	hsa-miR-4291	CLIP-seq
MIRT2437369	hsa-miR-545	CLIP-seq

Show/Hide all (38)

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:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISS
GO:0005886	Component	Plasma membrane	TAS	8632757
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006821	Process	Chloride transport	IEA
GO:0007165	Process	Signal transduction	TAS	8632757
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	NAS	28528665, 34417930
GO:0008503	Function	Benzodiazepine receptor activity	IBA
GO:0008503	Function	Benzodiazepine receptor activity	TAS	8632757
GO:0016020	Component	Membrane	IEA
GO:0022851	Function	GABA-gated chloride ion channel activity	IBA
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:0045202	Component	Synapse	IEA
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0051932	Process	Synaptic transmission, GABAergic	IBA
GO:0051932	Process	Synaptic transmission, GABAergic	NAS	28528665
GO:0060078	Process	Regulation of postsynaptic membrane potential	IEA
GO:0098794	Component	Postsynapse	IBA
GO:0099192	Component	Cerebellar Golgi cell to granule cell synapse	IEA
GO:0099634	Component	Postsynaptic specialization membrane	ISS
GO:1902476	Process	Chloride transmembrane transport	IBA
GO:1902476	Process	Chloride transmembrane transport	NAS	28528665
GO:1902711	Component	GABA-A receptor complex	IBA
GO:1902711	Component	GABA-A receptor complex	ISS
GO:1904315	Function	Transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential	IEA
GO:1904862	Process	Inhibitory synapse assembly	IBA

MIM	HGNC	e!Ensembl
137143	4080	ENSG00000145863

Q16445

Protein name

Gamma-aminobutyric acid receptor subunit alpha-6 (GABA(A) receptor subunit alpha-6) (GABAAR subunit alpha-6)

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:8632757). GABA-gated chloride channels, also named GABA(A) receptors (GABAAR),

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02931	Neur_chan_LBD	32 → 240	Neurotransmitter-gated ion-channel ligand binding domain	Family
PF02932	Neur_chan_memb	247 → 399	Neurotransmitter-gated ion-channel transmembrane region	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in brain, in cerebellar granule cells. {ECO:0000269|PubMed:8632757}.

Sequence

MASSLPWLCIILWLENALGKLEVEGNFYSENVSRILDNLLEGYDNRLRPGFGGAVTEVKT
DIYVTSFGPVSDVEMEYTMDVFFRQTWTDERLKFGGPTEILSLNNLMVSKIWTPDTFFRN
GKKSIAHNMTTPNKLFRIMQNGTILYTMRLTINADCPMRLVNFPMDGHACPLKFGSYAYP
KSEIIYTWKKGPLYSVEVPEESSSLLQYDLIGQTVSSETIKSNTGEYVIMTVYFHLQRKM
GYFMIQIYTPCIMTVILSQVSFWINKESVPARTVFGITTVLTMTTLSISARHSLPKVSYA
TAMDWFIAVCFAFVFSALIEFAAVNYFTNLQTQKAKRKAQFAAPPTVTISKATEPLEAEI
VLHPDSKYHLKKRITSLSLPIVSSSEANKVLTRAPILQSTPVTPPPLSPAFGGTSKIDQY
SRILFPVAFAGFNLVYWVVYLSKDTMEVSSSVE

Sequence length

453

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 Unknown Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Childhood absence epilepsy	Likely benign; Benign; Uncertain significance	rs141319994, rs13188991, rs12522663, rs13184586, rs34907804, rs4277944, rs3219151, rs200968260, rs3811993, rs76773579, rs1554115829, rs750458393, rs113239794, rs1554115593, rs34826485 View all (6 more)	RCV001496253 RCV001521753 RCV001521754 RCV001521755 RCV001518717 RCV001521756 RCV001521757 RCV001469249 RCV000555943 RCV000552214 RCV000532914 RCV001435826 RCV000550364 RCV000526500 RCV000531862 RCV000542461 RCV000538791 RCV000798547 RCV000878598 RCV000945849 RCV000887540
GABRA6-related disorder	Benign; Likely benign; Uncertain significance	rs13188991, rs13184586, rs34907804, rs374907395, rs76937628, rs200710979, rs765780675, rs76773579, rs150866100, rs112717732, rs141165453	RCV004541972 RCV004541973 RCV004541967 RCV004542497 RCV004536907 RCV004542354 RCV000509493 RCV004530589 RCV004541772 RCV004541808 RCV004533619

Show/Hide Text Mining Associations (18)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Alcoholism	Stimulate	35301805
Anxiety	Associate	29018204
Autistic Disorder	Associate	25124326
Bipolar Disorder	Associate	25730879
Death	Associate	29018204
Depressive Disorder	Associate	29018204
Disruptive Impulse Control and Conduct Disorders	Associate	29018204
Epilepsy	Associate	31957018, 34740144
Epilepsy Absence	Associate	21930603
Epilepsy Idiopathic Generalized	Associate	34740144
Fibrosis	Associate	35301805
Meningioma	Associate	31470906
Mental Disorders	Associate	29018204
Nervous System Diseases	Associate	25124326
Psychomotor Agitation	Associate	29018204
Seizures	Associate	21930603
Seizures Febrile	Associate	21930603
Sleep Initiation and Maintenance Disorders	Associate	29018204

GABRA6 (gamma-aminobutyric acid type A receptor subunit alpha6)