Property Summary

NCBI Gene PubMed Count 51
PubMed Score 83.30
PubTator Score 119.46

Knowledge Summary

Patent (9,588)

Expression

  Differential Expression (16)

Disease log2 FC p
interstitial lung disease 1.700 4.0e-02
oligodendroglioma -2.000 5.2e-08
astrocytoma -1.700 1.5e-08
glioblastoma multiforme -3.000 2.0e-15
ependymoma -2.200 4.3e-04
sonic hedgehog group medulloblastoma -3.400 8.6e-05
atypical teratoid / rhabdoid tumor -2.200 1.8e-03
medulloblastoma, large-cell -3.800 2.0e-05
primitive neuroectodermal tumor -2.900 3.2e-03
adrenocortical adenoma -1.765 3.8e-02
interstitial cystitis -2.700 5.7e-03
adult high grade glioma -3.100 7.0e-05
pilocytic astrocytoma -2.000 2.3e-05
subependymal giant cell astrocytoma -2.869 3.0e-02
pituitary cancer 2.100 1.2e-03
psoriasis -2.500 1.2e-45

Gene RIF (31)

PMID Text
25450229 The rare variants in GABBR2 were significantly associated with smoking status.
24923912 Putative GABAA and ASIC1a channels functionally interact with each other, possibly via an inter-molecular association by forming a novel protein complex.
24778228 The endoplasmic reticulum retention signal of GBR1 is not part of the core coiled-coil structure, suggesting that it is sterically shielded by GBR2 upon heterodimer formation.
24682435 GABBR2 receptors are expressed in aortic smooth muscle cells and regulate the [Ca(2+)]i via a Gi/o-coupled receptor pathway and a phospholipase C activation pathway.
24482233 gamma-aminobutyric acidB receptor proteasomal degradation is mediated by the interaction of the GABAB2 C terminus with the proteasomal ATPase Rtp6 and regulated by neuronal activity
22660477 The GABBR2 ectodomain adopts a constitutively open conformation, suggesting a structural asymmetry in the active state of GABA(B) receptor that is unique to the GABAergic system.
22613715 Results show that GABA(B) receptors R1 and R2 must be activated for the modulation of N-type (Ca(v)2.2) calcium channels by analgesic alpha-conotoxins Vc1.1 and RgIA.
22169202 and GABABR2 proteins are reduced in the prefrontal cortex of aged rats but these reductions are not associated with spatial learning abilities.
21971078 The results indicate that there may be specific GABA receptor gene expression variation in migraine, particularly involving the GABRA3 and GABBR2 genes.
21724853 Gamma-aminobutyric acid type B (GABA(B)) receptor internalization is regulated by the R2 subunit.
21303731 The results of this study provided evidence of Gabbr2 Deficit in schizophrenia and mood disorders.
20734064 Observational study of gene-disease association. (HuGE Navigator)
20634891 Observational study of gene-disease association. (HuGE Navigator)
20583170 Observational study of gene-disease association. (HuGE Navigator)
20557420 GABA(B) receptor subunit 2 levels are significantly decreased in the cingulate cortex and fusiform gyrus of autism patients compared to controls.
20424473 Observational study of gene-disease association. (HuGE Navigator)
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
19763258 variants of GABBR1 and GABBR2 are associated with nicotine dependence in European- and African-American populations
19763258 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
19336370 Observational study of gene-disease association. (HuGE Navigator)
19308021 Observational study of gene-disease association. (HuGE Navigator)
19086053 Observational study of gene-disease association. (HuGE Navigator)
19002745 Levels of GABBR1 are significantly decreased in the cerebellum of patients with autism.
18978678 Observational study of gene-disease association. (HuGE Navigator)
18482426 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
17145756 GABA(B) receptor stability and signaling can be modulated via GABA(B) receptor subunit 2 interactions with the PDZ scaffold protein Mupp1, which may contribute to cell-specific regulation of GABA(B) receptors in the central nervous system.
16829628 Functional GABA(B) receptors are expressed in human airway smooth muscle cells
14978362 The GABA(B) receptor may be present as a heterodimer with subunits of GABA(B1) and GABA(B2) in the human colon.
14966130 Association of the GABA(B)R1 with the GABA(A) receptor gamma2S subunit robustly promotes cell surface expression of GABA(B)R1 in the absence of GABA(B)R2, that is usually required for efficient trafficking of GABA(B)R1 to the cell surface.
14961561 GABA(B) receptor subunit GABA(B)R2 is found on the same neurons and follows the same distribution patterns in the basal ganglia as the GABABR1 receptor subunit.
14625043 Increased expression of GABA(B) receptor subtype 2 indicates augmented presynaptic inhibition of glutamate release as a possible protective mechanism in temporal lobe epilepsy.

AA Sequence

MASPRSSGQPGPPPPPPPPPARLLLLLLLPLLLPLAPGAWGWARGAPRPPPSSPPLSIMGLMPLTKEVAK      1 - 70
GSIGRGVLPAVELAIEQIRNESLLRPYFLDLRLYDTECDNAKGLKAFYDAIKYGPNHLMVFGGVCPSVTS     71 - 140
IIAESLQGWNLVQLSFAATTPVLADKKKYPYFFRTVPSDNAVNPAILKLLKHYQWKRVGTLTQDVQRFSE    141 - 210
VRNDLTGVLYGEDIEISDTESFSNDPCTSVKKLKGNDVRIILGQFDQNMAAKVFCCAYEENMYGSKYQWI    211 - 280
IPGWYEPSWWEQVHTEANSSRCLRKNLLAAMEGYIGVDFEPLSSKQIKTISGKTPQQYEREYNNKRSGVG    281 - 350
PSKFHGYAYDGIWVIAKTLQRAMETLHASSRHQRIQDFNYTDHTLGRIILNAMNETNFFGVTGQVVFRNG    351 - 420
ERMGTIKFTQFQDSREVKVGEYNAVADTLEIINDTIRFQGSEPPKDKTIILEQLRKISLPLYSILSALTI    421 - 490
LGMIMASAFLFFNIKNRNQKLIKMSSPYMNNLIILGGMLSYASIFLFGLDGSFVSEKTFETLCTVRTWIL    491 - 560
TVGYTTAFGAMFAKTWRVHAIFKNVKMKKKIIKDQKLLVIVGGMLLIDLCILICWQAVDPLRRTVEKYSM    561 - 630
EPDPAGRDISIRPLLEHCENTHMTIWLGIVYAYKGLLMLFGCFLAWETRNVSIPALNDSKYIGMSVYNVG    631 - 700
IMCIIGAAVSFLTRDQPNVQFCIVALVIIFCSTITLCLVFVPKLITLRTNPDAATQNRRFQFTQNQKKED    701 - 770
SKTSTSVTSVNQASTSRLEGLQSENHRLRMKITELDKDLEEVTMQLQDTPEKTTYIKQNHYQELNDILNL    771 - 840
GNFTESTDGGKAILKNHLDQNPQLQWNTTEPSRTCKDPIEDINSPEHIQRRLSLQLPILHHAYLPSIGGV    841 - 910
DASCVSPCVSPTASPRHRHVPPSFRVMVSGL                                           911 - 941
//

Text Mined References (54)

PMID Year Title
25450229 2015 The contribution of rare and common variants in 30 genes to risk nicotine dependence.
24923912 2014 Identification of a novel protein complex containing ASIC1a and GABAA receptors and their interregulation.
24778228 2014 Heterodimeric coiled-coil interactions of human GABAB receptor.
24682435 2015 GABAB receptors are expressed in human aortic smooth muscle cells and regulate the intracellular Ca(2+) concentration.
24658140 2014 The mammalian-membrane two-hybrid assay (MaMTH) for probing membrane-protein interactions in human cells.
24482233 2014 Proteasomal degradation of ?-aminobutyric acidB receptors is mediated by the interaction of the GABAB2 C terminus with the proteasomal ATPase Rtp6 and regulated by neuronal activity.
24305054 2013 Structural mechanism of ligand activation in human GABA(B) receptor.
23726511 2013 Genome-wide association study identifies new susceptibility loci for posttraumatic stress disorder.
22660477 2012 Structure and functional interaction of the extracellular domain of human GABA(B) receptor GBR2.
22613715 2012 ?-Aminobutyric acid type B (GABAB) receptor expression is needed for inhibition of N-type (Cav2.2) calcium channels by analgesic ?-conotoxins.
22169202 2012 GABA(B) receptor GTP-binding is decreased in the prefrontal cortex but not the hippocampus of aged rats.
21971078 2011 Significant differences in gene expression of GABA receptors in peripheral blood leukocytes of migraineurs.
21724853 2011 Gamma-aminobutyric acid type B (GABA(B)) receptor internalization is regulated by the R2 subunit.
21303731 2011 Deficits in GABA(B) receptor system in schizophrenia and mood disorders: a postmortem study.
20734064 2010 A large-scale candidate gene association study of age at menarche and age at natural menopause.
20634891 2010 Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia.
20583170 2010 Follow-up association studies of chromosome region 9q and nonsyndromic cleft lip/palate.
20557420 2010 Decreased GABA(B) receptors in the cingulate cortex and fusiform gyrus in autism.
20424473 2010 L-type voltage-dependent calcium channel alpha subunit 1C is a novel candidate gene associated with secondary hyperparathyroidism: an application of haplotype-based analysis for multiple linked single nucleotide polymorphisms.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
19763258 2009 Association and interaction analyses of GABBR1 and GABBR2 with nicotine dependence in European- and African-American populations.
19744961 2009 Genome-wide significant predictors of metabolites in the one-carbon metabolism pathway.
19336370 2009 Determination of genetic predisposition to patent ductus arteriosus in preterm infants.
19308021 2009 Findings from bipolar disorder genome-wide association studies replicate in a Finnish bipolar family-cohort.
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.
19002745 2009 Expression of GABA(B) receptors is altered in brains of subjects with autism.
18978678 2008 Candidate gene/loci studies in cleft lip/palate and dental anomalies finds novel susceptibility genes for clefts.
18577758 2008 Dissociation of heterotrimeric g proteins in cells.
18482426 2008 Gamma-aminobutyric acid receptor genes and nicotine dependence: evidence for association from a case-control study.
18165688 2008 Direct detection of the interaction between recombinant soluble extracellular regions in the heterodimeric metabotropic gamma-aminobutyric acid receptor.
17185339 2007 Evidence for association of GABA(B) receptors with Kir3 channels and regulators of G protein signalling (RGS4) proteins.
17145756 2007 GABAB receptor association with the PDZ scaffold Mupp1 alters receptor stability and function.
16829628 2006 Functional expression of the GABAB receptor in human airway smooth muscle.
16724110 2006 Coordinated action of NSF and PKC regulates GABAB receptor signaling efficacy.
15822905 Phosphoproteomic analysis of synaptosomes from human cerebral cortex.
15617512 2005 Subcellular distribution of GABA(B) receptor homo- and hetero-dimers.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15164053 2004 DNA sequence and analysis of human chromosome 9.
14978362 2004 Characterization of GABAB receptor in the human colon.
14966130 2004 Hetero-oligomerization between GABAA and GABAB receptors regulates GABAB receptor trafficking.
14961561 2004 Comparative cellular distribution of GABAA and GABAB receptors in the human basal ganglia: immunohistochemical colocalization of the alpha 1 subunit of the GABAA receptor, and the GABABR1 and GABABR2 receptor subunits.
14625043 2003 Increased expression of gamma-aminobutyric acid type B receptors in the hippocampus of patients with temporal lobe epilepsy.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11850456 2002 Tamalin, a PDZ domain-containing protein, links a protein complex formation of group 1 metabotropic glutamate receptors and the guanine nucleotide exchange factor cytohesins.
11087824 2000 The GABAB receptor interacts directly with the related transcription factors CREB2 and ATFx.
10773016 2000 Coexpression of full-length gamma-aminobutyric acid(B) (GABA(B)) receptors with truncated receptors and metabotropic glutamate receptor 4 supports the GABA(B) heterodimer as the functional receptor.
10727622 2000 Distribution of the GABA(B) receptor subunit gb2 in rat CNS.
10328880 1999 Molecular identification of the human GABABR2: cell surface expression and coupling to adenylyl cyclase in the absence of GABABR1.
10087195 1999 Cloning of a novel G-protein-coupled receptor GPR 51 resembling GABAB receptors expressed predominantly in nervous tissues and mapped proximal to the hereditary sensory neuropathy type 1 locus on chromosome 9.
10075644 1999 Identification of a GABAB receptor subunit, gb2, required for functional GABAB receptor activity.
9872317 1998 GABA(B)-receptor subtypes assemble into functional heteromeric complexes.
9872316 1998 Heterodimerization is required for the formation of a functional GABA(B) receptor.
7494864 1995 GABAB receptors.
2834384 1988 Presence of three distinct molecular species of Gi protein alpha subunit. Structure of rat cDNAs and human genomic DNAs.