GABRA3 (gamma-aminobutyric acid type A receptor subunit alpha3)

2009-05-01 Affiliation

Identity

HGNC

GABRA3

LOCATION

Xq28

LOCUSID

2556

FUSION GENES

Show Gene Fusions

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: 2556
MIM: 305660
HGNC: 4077
Ensembl: ENSG00000011677

Variants:

dbSNP: 2556
ClinVar: 2556
TCGA: ENSG00000011677
COSMIC: GABRA3

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000011677	ENST00000370314	P34903
ENSG00000011677	ENST00000535043	P34903

Expression (GTEx)

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

References

Pubmed ID	Year	Title	Citations
18821008	2009	GABA(A) receptor downregulation in brains of subjects with autism.	157
19874574	2009	Genetical genomic determinants of alcohol consumption in rats and humans.	93
20351714	2011	Poor replication of candidate genes for major depressive disorder using genome-wide association data.	92
20843900	2011	Lamina-specific alterations in cortical GABA(A) receptor subunit expression in schizophrenia.	57
19078961	2010	Strong genetic evidence for a selective influence of GABAA receptors on a component of the bipolar disorder phenotype.	47
19086053	2009	Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment.	34
26869349	2016	The mRNA-edited form of GABRA3 suppresses GABRA3-mediated Akt activation and breast cancer metastasis.	31
20468064	2010	Association study of 182 candidate genes in anorexia nervosa.	30
18334916	2008	Pathway-based association analysis of genome-wide screening data suggest that genes associated with the gamma-aminobutyric acid receptor signaling pathway are involved in neuroleptic-induced, treatment-resistant tardive dyskinesia.	22
11140838	2000	A multivariate analysis of 59 candidate genes in personality traits: the temperament and character inventory.	20

Citation

Dessen P

GABRA3 (gamma-aminobutyric acid type A receptor subunit alpha3)

Atlas Genet Cytogenet Oncol Haematol. 2009-05-01

Online version: http://atlasgeneticsoncology.org/gene/50916/gabra3