GABRB1 (gamma-aminobutyric acid type A receptor subunit beta1)

2014-11-01  

Identity

HGNC
GABRB1
LOCATION
4p12
LOCUSID
2560
ALIAS
DEE45,EIEE45
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 2560
MIM: 137190
HGNC: 4081
Ensembl: ENSG00000163288

Variants:

dbSNP: 2560
ClinVar: 2560
TCGA: ENSG00000163288
COSMIC: GABRB1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000163288ENST00000295454P18505
ENSG00000163288ENST00000295454X5DNL6
ENSG00000163288ENST00000510909P18505
ENSG00000163288ENST00000513567D6REM0

Expression (GTEx)

0
1
2
3
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
Neuroactive ligand-receptor interactionKEGGhsa04080
GABAergic synapseKEGGko04727
GABAergic synapseKEGGhsa04727
Serotonergic synapseKEGGhsa04726
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

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
118913182002Linkage disequilibrium between the beta frequency of the human EEG and a GABAA receptor gene locus.95
198745742009Genetical genomic determinants of alcohol consumption in rats and humans.93
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
208439002011Lamina-specific alterations in cortical GABA(A) receptor subunit expression in schizophrenia.57
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
195678912009Genetic utility of broadly defined bipolar schizoaffective disorder as a diagnostic concept.38
204680642010Association study of 182 candidate genes in anorexia nervosa.30
182812862008Histamine action on vertebrate GABAA receptors: direct channel gating and potentiation of GABA responses.23
111408382000A multivariate analysis of 59 candidate genes in personality traits: the temperament and character inventory.20

Citation

Dessen P

GABRB1 (gamma-aminobutyric acid type A receptor subunit beta1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/63651/gabrb1