GABRR3 (gamma-aminobutyric acid type A receptor subunit rho3)

2014-11-01 Affiliation

Identity

HGNC

GABRR3

LOCATION

3q11.2

LOCUSID

200959

ALIAS

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 200959
MIM: 618668
HGNC: 17969
Ensembl: ENSG00000183185

Variants:

dbSNP: 200959
ClinVar: 200959
TCGA: ENSG00000183185
COSMIC: GABRR3

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000183185	ENST00000472788	A8MPY1
ENSG00000183185	ENST00000621172	A8MPY1

Expression (GTEx)

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

Pathway	Source	External ID
Neuroactive ligand-receptor interaction	KEGG	ko04080
Neuroactive ligand-receptor interaction	KEGG	hsa04080
GABAergic synapse	KEGG	ko04727
GABAergic synapse	KEGG	hsa04727
Retrograde endocannabinoid signaling	KEGG	hsa04723
Retrograde endocannabinoid signaling	KEGG	ko04723
Morphine addiction	KEGG	hsa05032
Morphine addiction	KEGG	ko05032
Nicotine addiction	KEGG	hsa05033
Nicotine addiction	KEGG	ko05033
Neuronal System	REACTOME	R-HSA-112316
Transmission across Chemical Synapses	REACTOME	R-HSA-112315
Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell	REACTOME	R-HSA-112314
GABA receptor activation	REACTOME	R-HSA-977443
GABA A (rho) receptor activation	REACTOME	R-HSA-977442
Transmembrane transport of small molecules	REACTOME	R-HSA-382551
Ion channel transport	REACTOME	R-HSA-983712
Ligand-gated ion channel transport	REACTOME	R-HSA-975298

References

Pubmed ID	Year	Title	Citations
19078961	2010	Strong genetic evidence for a selective influence of GABAA receptors on a component of the bipolar disorder phenotype.	47
19086053	2009	Identification 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
15617751	2005	GABA receptor rho subunit expression in the developing rat brain.	17
20820800	2011	Gamma-aminobutyric acid (GABA) receptor rho (GABRR) polymorphisms and risk for essential tremor.	10
29720720	2018	Gamma-aminobutyric acid (GABA) receptors genes polymorphisms and risk for restless legs syndrome.	2

Citation

Dessen P

GABRR3 (gamma-aminobutyric acid type A receptor subunit rho3)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/63658/gabrr3