GABBR2 (gamma-aminobutyric acid type B receptor subunit 2)

2012-11-01  

Identity

HGNC
GABBR2
LOCATION
9q22.33
LOCUSID
9568
ALIAS
DEE59,EIEE59,GABABR2,GPR51,GPRC3B,HG20,HRIHFB2099,NDPLHS
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 9568
MIM: 607340
HGNC: 4507
Ensembl: ENSG00000136928

Variants:

dbSNP: 9568
ClinVar: 9568
TCGA: ENSG00000136928
COSMIC: GABBR2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000136928ENST00000259455O75899
ENSG00000136928ENST00000259455H9NIL8
ENSG00000136928ENST00000634457A0A0U1RR59
ENSG00000136928ENST00000637717A0A1B0GW60

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
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
Morphine addictionKEGGhsa05032
Morphine addictionKEGGko05032
Estrogen signaling pathwayKEGGhsa04915
Estrogen signaling pathwayKEGGko04915
cAMP signaling pathwayKEGGhsa04024
cAMP signaling pathwayKEGGko04024
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 B receptor activationREACTOMER-HSA-977444
Activation of GABAB receptorsREACTOMER-HSA-991365
Inhibition of voltage gated Ca2+ channels via Gbeta/gamma subunitsREACTOMER-HSA-997272
Potassium ChannelsREACTOMER-HSA-1296071
Inwardly rectifying K+ channelsREACTOMER-HSA-1296065
G protein gated Potassium channelsREACTOMER-HSA-1296059
Activation of G protein gated Potassium channelsREACTOMER-HSA-1296041
Signal TransductionREACTOMER-HSA-162582
Signaling by GPCRREACTOMER-HSA-372790
GPCR ligand bindingREACTOMER-HSA-500792
Class C/3 (Metabotropic glutamate/pheromone receptors)REACTOMER-HSA-420499
GPCR downstream signalingREACTOMER-HSA-388396
G alpha (i) signalling eventsREACTOMER-HSA-418594

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
190027452009Expression of GABA(B) receptors is altered in brains of subjects with autism.77
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
205574202010Decreased GABA(B) receptors in the cingulate cortex and fusiform gyrus in autism.59
171457562007GABAB receptor association with the PDZ scaffold Mupp1 alters receptor stability and function.38
207340642010A large-scale candidate gene association study of age at menarche and age at natural menopause.38
149661302004Hetero-oligomerization between GABAA and GABAB receptors regulates GABAB receptor trafficking.36
213037312011Deficits in GABA(B) receptor system in schizophrenia and mood disorders: a postmortem study.36
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
193080212009Findings from bipolar disorder genome-wide association studies replicate in a Finnish bipolar family-cohort.29
184824262008Gamma-aminobutyric acid receptor genes and nicotine dependence: evidence for association from a case-control study.26

Citation

Dessen P

GABBR2 (gamma-aminobutyric acid type B receptor subunit 2)

Atlas Genet Cytogenet Oncol Haematol. 2012-11-01

Online version: http://atlasgeneticsoncology.org/gene/53004/gabbr2