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

2014-11-01 Affiliation

Identity

HGNC

GABRA6

LOCATION

5q34

LOCUSID

2559

ALIAS

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 2559
MIM: 137143
HGNC: 4080
Ensembl: ENSG00000145863

Variants:

dbSNP: 2559
ClinVar: 2559
TCGA: ENSG00000145863
COSMIC: GABRA6

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000145863	ENST00000274545	Q16445
ENSG00000145863	ENST00000517823	H0YBS7
ENSG00000145863	ENST00000520000	H0YBP3
ENSG00000145863	ENST00000523217	E7EV53
ENSG00000145863	ENST00000523691	H0YAS3

Expression (GTEx)

100

150

200

250

300

350

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Neuroactive ligand-receptor interaction	KEGG	ko04080
Taste transduction	KEGG	ko04742
Neuroactive ligand-receptor interaction	KEGG	hsa04080
Taste transduction	KEGG	hsa04742
GABAergic synapse	KEGG	ko04727
GABAergic synapse	KEGG	hsa04727
Retrograde endocannabinoid signaling	KEGG	hsa04723
Retrograde endocannabinoid signaling	KEGG	ko04723
Morphine addiction	KEGG	hsa05032
Morphine addiction	KEGG	ko05032
Nicotine addiction	KEGG	hsa05033
Nicotine addiction	KEGG	ko05033
Neuronal System	REACTOME	R-HSA-112316
Transmission across Chemical Synapses	REACTOME	R-HSA-112315
Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell	REACTOME	R-HSA-112314
GABA receptor activation	REACTOME	R-HSA-977443
GABA A receptor activation	REACTOME	R-HSA-977441
Transmembrane transport of small molecules	REACTOME	R-HSA-382551
Ion channel transport	REACTOME	R-HSA-983712
Ligand-gated ion channel transport	REACTOME	R-HSA-975298

Protein levels (Protein atlas)

Not detected

Low

Medium

High

PharmGKB

Entity ID	Name	Type	Evidence	Association	PD	PMIDs
PA164713257	Selective serotonin reuptake inhibitors	Chemical	ClinicalAnnotation	associated	PD	23394390
PA447321	Depressive Disorder, Major	Disease	ClinicalAnnotation	associated	PD	23394390
PA451866	venlafaxine	Chemical	ClinicalAnnotation	associated	PD	23394390
PA452229	antidepressants	Chemical	ClinicalAnnotation	associated	PD	23394390

References

Pubmed ID	Year	Title	Citations
34740144	2021	GABRA1 and GABRA6 gene mutations in idiopathic generalized epilepsy patients.	7
34740144	2021	GABRA1 and GABRA6 gene mutations in idiopathic generalized epilepsy patients.	7
29018204	2017	A new stress sensor and risk factor for suicide: the T allele of the functional genetic variant in the GABRA6 gene.	7
29018204	2017	A new stress sensor and risk factor for suicide: the T allele of the functional genetic variant in the GABRA6 gene.	7
25974322	2015	Association of TMEM132D, COMT, and GABRA6 genotypes with cingulate, frontal cortex and hippocampal emotional processing in panic and major depressive disorder.	14
26535938	2015	A multilevel prediction of physiological response to challenge: Interactions among child maltreatment, neighborhood crime, endothelial nitric oxide synthase gene (eNOS), and GABA(A) receptor subunit alpha-6 gene (GABRA6).	3
25974322	2015	Association of TMEM132D, COMT, and GABRA6 genotypes with cingulate, frontal cortex and hippocampal emotional processing in panic and major depressive disorder.	14
26535938	2015	A multilevel prediction of physiological response to challenge: Interactions among child maltreatment, neighborhood crime, endothelial nitric oxide synthase gene (eNOS), and GABA(A) receptor subunit alpha-6 gene (GABRA6).	3
25088614	2014	Association of GABRA6 1519 T>C (rs3219151) and Synapsin II (rs37733634) gene polymorphisms with the development of idiopathic generalized epilepsy.	10
25088614	2014	Association of GABRA6 1519 T>C (rs3219151) and Synapsin II (rs37733634) gene polymorphisms with the development of idiopathic generalized epilepsy.	10
23332465	2013	Polymorphisms in microRNA target sites influence susceptibility to schizophrenia by altering the binding of miRNAs to their targets.	19
23332465	2013	Polymorphisms in microRNA target sites influence susceptibility to schizophrenia by altering the binding of miRNAs to their targets.	19
21902679	2012	The role of genetic variability in the SLC6A4, BDNF and GABRA6 genes in anxiety-related traits.	14
21902679	2012	The role of genetic variability in the SLC6A4, BDNF and GABRA6 genes in anxiety-related traits.	14
21041608	2011	Family-based analysis of genetic variation underlying psychosis-inducing effects of cannabis: sibling analysis and proband follow-up.	58

Citation

Dessen P

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

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/63650