GABRP (gamma-aminobutyric acid type A receptor subunit pi)

2003-08-01  

Identity

HGNC
GABRP
LOCATION
5q35.1
LOCUSID
2568
ALIAS
-
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 2568
MIM: 602729
HGNC: 4089
Ensembl: ENSG00000094755

Variants:

dbSNP: 2568
ClinVar: 2568
TCGA: ENSG00000094755
COSMIC: GABRP

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000094755ENST00000265294O00591
ENSG00000094755ENST00000518122E5RHF6
ENSG00000094755ENST00000518525O00591
ENSG00000094755ENST00000519196E5RHU0
ENSG00000094755ENST00000519385E7EWG0
ENSG00000094755ENST00000519598E5RI57
ENSG00000094755ENST00000521009E5RK74
ENSG00000094755ENST00000521481E5RG98
ENSG00000094755ENST00000522868E5RGF7

Expression (GTEx)

0
5
10
15
20
25
30
35
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

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA164713257Selective serotonin reuptake inhibitorsChemicalClinicalAnnotationassociatedPD23394390
PA447321Depressive Disorder, MajorDiseaseClinicalAnnotationassociatedPD23394390
PA451866venlafaxineChemicalClinicalAnnotationassociatedPD23394390
PA452229antidepressantsChemicalClinicalAnnotationassociatedPD23394390

References

Pubmed IDYearTitleCitations
161726132005Genetic investigation of chromosome 5q GABAA receptor subunit genes in schizophrenia.48
190789612010Strong genetic evidence for a selective influence of GABAA receptors on a component of the bipolar disorder phenotype.47
190860532009Identification 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
204680642010Association study of 182 candidate genes in anorexia nervosa.30
198345352009Sequential use of transcriptional profiling, expression quantitative trait mapping, and gene association implicates MMP20 in human kidney aging.27
161872832006Systematic characterisation of GABRP expression in sporadic breast cancer and normal breast tissue.19
250126532014GABA(A) receptor pi (GABRP) stimulates basal-like breast cancer cell migration through activation of extracellular-regulated kinase 1/2 (ERK1/2).18
285241802017Aberrant epigenetic regulation of GABRP associates with aggressive phenotype of ovarian cancer.6
205831282010Variation at the GABAA receptor gene, Rho 1 (GABRR1) associated with susceptibility to bipolar schizoaffective disorder.4
201037402010HOXA10 regulates endometrial GABAA {pi} receptor expression and membrane translocation.3

Citation

Dessen P

GABRP (gamma-aminobutyric acid type A receptor subunit pi)

Atlas Genet Cytogenet Oncol Haematol. 2003-08-01

Online version: http://atlasgeneticsoncology.org/gene/40665/gabrp