GABRA5 (gamma-aminobutyric acid type A receptor subunit alpha5)

2018-11-01 Affiliation

Identity

HGNC

GABRA5

LOCATION

15q12

LOCUSID

2558

ALIAS

DEE79,EIEE79

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: 2558
MIM: 137142
HGNC: 4079
Ensembl: ENSG00000186297

Variants:

dbSNP: 2558
ClinVar: 2558
TCGA: ENSG00000186297
COSMIC: GABRA5

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000186297	ENST00000335625	P31644
ENSG00000186297	ENST00000355395	P31644
ENSG00000186297	ENST00000400081	P31644
ENSG00000186297	ENST00000554038	G3V408
ENSG00000186297	ENST00000554083	G3V296
ENSG00000186297	ENST00000554596	G3V2Q9
ENSG00000186297	ENST00000554599	G3V2K2
ENSG00000186297	ENST00000555060	G3V2Y5
ENSG00000186297	ENST00000555182	G3V2G8

Expression (GTEx)

100

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

References

Pubmed ID	Year	Title	Citations
19736351	2009	Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation.	151
16080114	2005	Identification of significant association and gene-gene interaction of GABA receptor subunit genes in autism.	107
19913121	2009	Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.	85
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
22546616	2013	The brain GABA-benzodiazepine receptor alpha-5 subtype in autism spectrum disorder: a pilot [(11)C]Ro15-4513 positron emission tomography study.	37
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
24227714	2013	Medial habenula output circuit mediated by α5 nicotinic receptor-expressing GABAergic neurons in the interpeduncular nucleus.	32
20468064	2010	Association study of 182 candidate genes in anorexia nervosa.	30
16674551	2006	An analysis paradigm for investigating multi-locus effects in complex disease: examination of three GABA receptor subunit genes on 15q11-q13 as risk factors for autistic disorder.	23

Citation

Dessen P

GABRA5 (gamma-aminobutyric acid type A receptor subunit alpha5)

Atlas Genet Cytogenet Oncol Haematol. 2018-11-01

Online version: http://atlasgeneticsoncology.org/gene/57688/gabra5