Gene: GABBR1

Alternate names for this Gene: GABABR1|GABBR1-3|GB1|GPRC3A

Gene Summary: This gene encodes a receptor for gamma-aminobutyric acid (GABA), which is the main inhibitory neurotransmitter in the mammalian central nervous system. This receptor functions as a heterodimer with GABA(B) receptor 2. Defects in this gene may underlie brain disorders such as schizophrenia and epilepsy. Alternative splicing generates multiple transcript variants, but the full-length nature of some of these variants has not been determined.

Gene is located in Chromosome: 6

Location in Chromosome : 6p22.1

Description of this Gene: gamma-aminobutyric acid type B receptor subunit 1

Type of Gene: protein-coding

rs1235162 in GABBR1 gene and Acquired Immunodeficiency Syndrome PMID 19115949 2009 Genomewide association study of an AIDS-nonprogression cohort emphasizes the role played by HLA genes (ANRS Genomewide Association Study 02).

rs1235162 in GABBR1 gene and Adenocarcinoma of lung (disorder) PMID 19836008 2009 A genome-wide association study of lung cancer identifies a region of chromosome 5p15 associated with risk for adenocarcinoma.

rs115645848 in GABBR1 gene and Arthritis, Psoriatic PMID 30552173 2019 Genetic variation at the glycosaminoglycan metabolism pathway contributes to the risk of psoriatic arthritis but not psoriasis.

rs740883 in GABBR1 gene and Child Development Disorders, Pervasive PMID 30804558 2019 Identification of common genetic risk variants for autism spectrum disorder.

rs459970 in GABBR1 gene and Coronary heart disease PMID 21971053 2012 Genome-wide association study of coronary artery disease in the Japanese.

rs1235162 in GABBR1 gene and Diabetes Mellitus, Insulin-Dependent PMID 17632545 2007 A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene.

rs1235162 in GABBR1 gene and Lupus Erythematosus, Systemic PMID 24871463 2014 GWAS identifies novel SLE susceptibility genes and explains the association of the HLA region.

rs17508548 in GABBR1 gene and Major Depressive Disorder PMID 29942085 2018 Meta-analysis of genome-wide association studies for neuroticism in 449,484 individuals identifies novel genetic loci and pathways.

rs1235162 in GABBR1 gene and Malignant neoplasm of lung PMID 22899653 2012 Influence of common genetic variation on lung cancer risk: meta-analysis of 14 900 cases and 29 485 controls.

PMID 19654303 2009 Deciphering the impact of common genetic variation on lung cancer risk: a genome-wide association study.

rs17508548 in GABBR1 gene and Mood Disorders PMID 29942085 2018 Meta-analysis of genome-wide association studies for neuroticism in 449,484 individuals identifies novel genetic loci and pathways.

rs1235162 in GABBR1 gene and Myasthenia Gravis PMID 23055271 2012 Risk for myasthenia gravis maps to a (151) Pro→Ala change in TNIP1 and to human leukocyte antigen-B*08.

rs2076483 in GABBR1 gene and Nasopharyngeal carcinoma PMID 20512145 2010 A genome-wide association study of nasopharyngeal carcinoma identifies three new susceptibility loci.

PMID 23209447 2012 The principal genetic determinants for nasopharyngeal carcinoma in China involve the HLA class I antigen recognition groove.

rs1233399 in GABBR1 gene and Rheumatoid Arthritis PMID 19503088 2009 REL, encoding a member of the NF-kappaB family of transcription factors, is a newly defined risk locus for rheumatoid arthritis.

rs115070292 in GABBR1 gene and Schizophrenia PMID 27922604 2017 Common variants on 2p16.1, 6p22.1 and 10q24.32 are associated with schizophrenia in Han Chinese population.

rs62392942 in GABBR1 gene and Smoking PMID 28440896 2017 Genome-wide meta-analysis identifies a novel susceptibility signal at CACNA2D3 for nicotine dependence.

rs143229677 in GABBR1 gene and White Blood Cell Count procedure PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.