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

2018-11-01  

Identity

HGNC
GABRA5
LOCATION
15q12
LOCUSID
2558
ALIAS
DEE79,EIEE79
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 2558
MIM: 137142
HGNC: 4079
Ensembl: ENSG00000186297

Variants:

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

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000186297ENST00000335625P31644
ENSG00000186297ENST00000355395P31644
ENSG00000186297ENST00000400081P31644
ENSG00000186297ENST00000554038G3V408
ENSG00000186297ENST00000554083G3V296
ENSG00000186297ENST00000554596G3V2Q9
ENSG00000186297ENST00000554599G3V2K2
ENSG00000186297ENST00000555060G3V2Y5
ENSG00000186297ENST00000555182G3V2G8

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
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

PathwaySourceExternal ID
Neuroactive ligand-receptor interactionKEGGko04080
Taste transductionKEGGko04742
Neuroactive ligand-receptor interactionKEGGhsa04080
Taste transductionKEGGhsa04742
GABAergic synapseKEGGko04727
GABAergic synapseKEGGhsa04727
Retrograde endocannabinoid signalingKEGGhsa04723
Retrograde endocannabinoid signalingKEGGko04723
Morphine addictionKEGGhsa05032
Morphine addictionKEGGko05032
Nicotine addictionKEGGhsa05033
Nicotine addictionKEGGko05033
Neuronal SystemREACTOMER-HSA-112316
Transmission across Chemical SynapsesREACTOMER-HSA-112315
Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic CellREACTOMER-HSA-112314
GABA receptor activationREACTOMER-HSA-977443
GABA A receptor activationREACTOMER-HSA-977441
Transmembrane transport of small moleculesREACTOMER-HSA-382551
Ion channel transportREACTOMER-HSA-983712
Ligand-gated ion channel transportREACTOMER-HSA-975298

References

Pubmed IDYearTitleCitations
364699772023Novel variants in GABA(A) receptor subunits: A possible association with benzodiazepine resistance in patients with drug-resistant epilepsy.2
364699772023Novel variants in GABA(A) receptor subunits: A possible association with benzodiazepine resistance in patients with drug-resistant epilepsy.2
355625222022GABA Receptor SNPs and Elevated Plasma GABA Levels Affect the Severity of the Indian ASD Probands.3
358226982022Effects of α5 GABA(A) receptor modulation on social interaction, memory, and neuroinflammation in a mouse model of Alzheimer's disease.2
355625222022GABA Receptor SNPs and Elevated Plasma GABA Levels Affect the Severity of the Indian ASD Probands.3
358226982022Effects of α5 GABA(A) receptor modulation on social interaction, memory, and neuroinflammation in a mouse model of Alzheimer's disease.2
345308072021An association study in the Taiwan Biobank elicits the GABAA receptor genes GABRB3, GABRA5, and GABRG3 as candidate loci for sleep duration in the Taiwanese population.1
345308072021An association study in the Taiwan Biobank elicits the GABAA receptor genes GABRB3, GABRA5, and GABRG3 as candidate loci for sleep duration in the Taiwanese population.1
318408242020Sex Differences in the Expression of the α5 Subunit of the GABA(A) Receptor in Alcoholics with and without Cirrhosis of the Liver.4
318408242020Sex Differences in the Expression of the α5 Subunit of the GABA(A) Receptor in Alcoholics with and without Cirrhosis of the Liver.4
310566712019Altered inhibitory synapses in de novo GABRA5 and GABRA1 mutations associated with early onset epileptic encephalopathies.21
310566712019Altered inhibitory synapses in de novo GABRA5 and GABRA1 mutations associated with early onset epileptic encephalopathies.21
297259842018Meta-Analysis of the Association between GABA Receptor Polymorphisms and Autism Spectrum Disorder (ASD).17
297875712018RNAi screening of subtracted transcriptomes reveals tumor suppression by taurine-activated GABAA receptors involved in volume regulation.1
299618702018De novo variants in GABRA2 and GABRA5 alter receptor function and contribute to early-onset epilepsy.45

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-(gamma-aminobutyric-acid-type-a-receptor-subunit-alpha5)