GABRA4 (gamma-aminobutyric acid type A receptor subunit alpha4)

2014-11-01  

Identity

HGNC
GABRA4
LOCATION
4p12
LOCUSID
2557
ALIAS
-

Other Information

Locus ID:

NCBI: 2557
MIM: 137141
HGNC: 4078
Ensembl: ENSG00000109158

Variants:

dbSNP: 2557
ClinVar: 2557
TCGA: ENSG00000109158
COSMIC: GABRA4

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000109158ENST00000264318P48169
ENSG00000109158ENST00000264318X5D7F5
ENSG00000109158ENST00000502874D6RB66
ENSG00000109158ENST00000508560D6R924
ENSG00000109158ENST00000511523D6R924

Expression (GTEx)

0
5
10
15
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
171352782007Cholinergic nicotinic receptor genes implicated in a nicotine dependence association study targeting 348 candidate genes with 3713 SNPs.424
197363512009Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation.151
160801142005Identification of significant association and gene-gene interaction of GABA receptor subunit genes in autism.107
160801142005Identification of significant association and gene-gene interaction of GABA receptor subunit genes in autism.107
198745742009Genetical genomic determinants of alcohol consumption in rats and humans.93
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
167706062006Investigation of autism and GABA receptor subunit genes in multiple ethnic groups.56
167706062006Investigation of autism and GABA receptor subunit genes in multiple ethnic groups.56
190789612010Strong genetic evidence for a selective influence of GABAA receptors on a component of the bipolar disorder phenotype.47
192894522009Altered markers of tonic inhibition in the dorsolateral prefrontal cortex of subjects with schizophrenia.46

Citation

Dessen P

GABRA4 (gamma-aminobutyric acid type A receptor subunit alpha4)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/63648/gabra4