Gene: GABBR2

Alternate names for this Gene: DEE59|EIEE59|GABABR2|GPR51|GPRC3B|HG20|HRIHFB2099|NDPLHS

Gene Summary: The multi-pass membrane protein encoded by this gene belongs to the G-protein coupled receptor 3 family and GABA-B receptor subfamily. The GABA-B receptors inhibit neuronal activity through G protein-coupled second-messenger systems, which regulate the release of neurotransmitters, and the activity of ion channels and adenylyl cyclase. This receptor subunit forms an active heterodimeric complex with GABA-B receptor subunit 1, neither of which is effective on its own. Allelic variants of this gene have been associated with nicotine dependence.

Gene is located in Chromosome: 9

Location in Chromosome : 9q22.33

Description of this Gene: gamma-aminobutyric acid type B receptor subunit 2

Type of Gene: protein-coding

rs10122943 in GABBR2 gene and Adolescent idiopathic scoliosis PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

rs1554689315 in GABBR2 gene and EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 59 PMID 29100083 2017 High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.

PMID 28856709 2017 GABBR2 mutations determine phenotype in rett syndrome and epileptic encephalopathy.

PMID 29369404 2018 A novel mutation in the transmembrane 6 domain of GABBR2 leads to a Rett-like phenotype.

rs10818782 in GABBR2 gene and High density lipoprotein measurement PMID 23726366 2013 Genome-wide characterization of shared and distinct genetic components that influence blood lipid levels in ethnically diverse human populations.

rs10986018 in GABBR2 gene and Homocysteine measurement PMID 19744961 2009 Genome-wide significant predictors of metabolites in the one-carbon metabolism pathway.

rs1554689313 in GABBR2 gene and NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS PMID 29369404 2018 A novel mutation in the transmembrane 6 domain of GABBR2 leads to a Rett-like phenotype.

PMID 28856709 2017 GABBR2 mutations determine phenotype in rett syndrome and epileptic encephalopathy.

PMID 26740508 2016 Identification of novel genetic causes of Rett syndrome-like phenotypes.

rs337527 in GABBR2 gene and Rheumatoid Arthritis PMID 30166627 2018 Genome-wide association study of response to tumour necrosis factor inhibitor therapy in rheumatoid arthritis.

rs10122943 in GABBR2 gene and SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

rs16914811 in GABBR2 gene and Schizophrenia PMID 26198764 2015 Genome-wide association study of schizophrenia in Ashkenazi Jews.

PMID 30285260 2019 Genome-Wide Association Study Detected Novel Susceptibility Genes for Schizophrenia and Shared Trans-Populations/Diseases Genetic Effect.

rs10818782 in GABBR2 gene and Serum HDL cholesterol measurement PMID 23726366 2013 Genome-wide characterization of shared and distinct genetic components that influence blood lipid levels in ethnically diverse human populations.

rs10986018 in GABBR2 gene and VITAMIN B12 MEASUREMENT PMID 19744961 2009 Genome-wide significant predictors of metabolites in the one-carbon metabolism pathway.

rs10120452 in GABBR2 gene and White Blood Cell Count procedure PMID 21738479 2011 Genome-wide association study of white blood cell count in 16,388 African Americans: the continental origins and genetic epidemiology network (COGENT).

rs16914931 in GABBR2 gene and response to simvastatin PMID 25089948 2014 Ancestry and other genetic associations with plasma PCSK9 response to simvastatin.