GABRG1 (gamma-aminobutyric acid type A receptor subunit gamma1)

2014-11-01  

Identity

HGNC
GABRG1
LOCATION
4p12
LOCUSID
2565
ALIAS
-

Other Information

Locus ID:

NCBI: 2565
MIM: 137166
HGNC: 4086
Ensembl: ENSG00000163285

Variants:

dbSNP: 2565
ClinVar: 2565
TCGA: ENSG00000163285
COSMIC: GABRG1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000163285ENST00000295452Q8N1C3

Expression (GTEx)

0
5
10
15
20
25
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
Retrograde endocannabinoid signalingKEGGhsa04723
Retrograde endocannabinoid signalingKEGGko04723
Morphine addictionKEGGhsa05032
Morphine addictionKEGGko05032
Nicotine addictionKEGGhsa05033
Nicotine addictionKEGGko05033

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
316908112019Steady-state activation of the high-affinity isoform of the α4β2δ GABA(A) receptor.7
317903482019Effects of Common and Rare Chromosome 4 GABAergic Gene Variation on Alcohol Use and Antisocial Behavior.0
316908112019Steady-state activation of the high-affinity isoform of the α4β2δ GABA(A) receptor.7
317903482019Effects of Common and Rare Chromosome 4 GABAergic Gene Variation on Alcohol Use and Antisocial Behavior.0
260878342015Adaptation of Subjective Responses to Alcohol is Affected by an Interaction of GABRA2 Genotype and Recent Drinking.13
260878342015Adaptation of Subjective Responses to Alcohol is Affected by an Interaction of GABRA2 Genotype and Recent Drinking.13
244258692014GABAA receptor α and γ subunits shape synaptic currents via different mechanisms.45
244258692014GABAA receptor α and γ subunits shape synaptic currents via different mechanisms.45
228177682013Voluntary intravenous self-administration of alcohol detects an interaction between GABAergic manipulation and GABRG1 polymorphism genotype: a pilot study.18
228177682013Voluntary intravenous self-administration of alcohol detects an interaction between GABAergic manipulation and GABRG1 polymorphism genotype: a pilot study.18
219199242012GABRG1 and GABRA2 variation associated with alcohol dependence in African Americans.22
219199242012GABRG1 and GABRA2 variation associated with alcohol dependence in African Americans.22
217505812011Genetic association of recovery from eating disorders: the role of GABA receptor SNPs.16
217505812011Genetic association of recovery from eating disorders: the role of GABA receptor SNPs.16
190789612010Strong genetic evidence for a selective influence of GABAA receptors on a component of the bipolar disorder phenotype.55

Citation

Dessen P

GABRG1 (gamma-aminobutyric acid type A receptor subunit gamma1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/63654/deep-insight-explorer/case-report-explorer