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

Gene

• 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

miRNA

miRTarBase ID	miRNA	Experiments	Reference
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

Gene ontology (GO)

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

Other IDs

• MIM: 137143
• HGNC: 4080
• e!Ensembl: ENSG00000145863

Protein

• UniProt ID: 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

Pathways

KEGG:

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

Reactome:

GABA receptor activation

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ASTROCYTOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Childhood absence epilepsy	Likely benign; Benign; Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEPRESSIVE DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GABRA6-related disorder	Benign; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL DEPRESSION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOOD DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Anxiety	Anxiety Disorder	BEFREE	19842164, 29018204		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety disorder	Pubtator	29018204	Associate	★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	19842164, 29018204		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	25124326	Associate	★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar disorder	Pubtator	25730879	Associate	★☆☆☆☆ Found in Text Mining only
Bipolar I disorder	Bipolar Disorder	BEFREE	29135068		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Cushing Syndrome	Cushing`s Syndrome	BEFREE	12079890		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	PSYGENET_DG	16402352		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive disorder	Mental Depression	BEFREE	29018204		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive Disorder	Major depressive disorder	Pubtator	29018204	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Disruptive Impulse Control and Conduct Disorders	Disruptive, impulse control, and conduct disorders	Pubtator	29018204	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	21420396, 24061200		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	31957018, 34740144	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy Absence	Absence epilepsy	Pubtator	21930603	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy Idiopathic Generalized	Epilepsy	Pubtator	34740144	Associate	★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	BEFREE	17295876		★☆☆☆☆ Found in Text Mining only
Idiopathic generalized epilepsy	Epilepsy	BEFREE	25088614		★☆☆☆☆ Found in Text Mining only
Infarction, Middle Cerebral Artery	Cerebral Infraction	CTD_human_DG	25257527		★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	25974322		★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	Pubtator	31470906	Associate	★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	PSYGENET_DG	16402352		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Depression	Mental Depression	BEFREE	29018204		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Middle Cerebral Artery Thrombosis	Cerebral Thrombosis	CTD_human_DG	25257527		★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood Disorder	BEFREE	12946574		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mood Disorders	Mood Disorder	PSYGENET_DG	12946574		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nervous System Diseases	Nervous system disease	Pubtator	25124326	Associate	★☆☆☆☆ Found in Text Mining only
NEUROTICISM	Neuroticism	BEFREE	17295876		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	12079890		★☆☆☆☆ Found in Text Mining only
Panic Disorder	Panic Disorder	BEFREE	21168126, 25974322		★☆☆☆☆ Found in Text Mining only
Psychomotor Agitation	Psychiatric disorders	Pubtator	29018204	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	15993854, 23332465		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	CTD_human_DG	18923069		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Seizures	Seizures	Pubtator	21930603	Associate	★☆☆☆☆ Found in Text Mining only
Seizures Febrile	Seizures	Pubtator	21930603	Associate	★☆☆☆☆ Found in Text Mining only
Unipolar Depression	Mental Depression	BEFREE	25974322		★☆☆☆☆ Found in Text Mining only