Gene: RARB

Alternate names for this Gene: HAP|MCOPS12|NR1B2|RARbeta1|RRB2

Gene Summary: This gene encodes retinoic acid receptor beta, a member of the thyroid-steroid hormone receptor superfamily of nuclear transcriptional regulators. This receptor localizes to the cytoplasm and to subnuclear compartments. It binds retinoic acid, the biologically active form of vitamin A which mediates cellular signalling in embryonic morphogenesis, cell growth and differentiation. It is thought that this protein limits growth of many cell types by regulating gene expression. The gene was first identified in a hepatocellular carcinoma where it flanks a hepatitis B virus integration site. Alternate promoter usage and differential splicing result in multiple transcript variants.

Gene is located in Chromosome: 3

Location in Chromosome : 3p24.2

Description of this Gene: retinoic acid receptor beta

Type of Gene: protein-coding

rs1286772 in RARB gene and Arthritis, Gouty PMID 22179738 2012 Gout and type 2 diabetes have a mutual inter-dependent effect on genetic risk factors and higher incidences.

rs1609783 in RARB gene and Blood urea nitrogen measurement PMID 31152163 2019 A catalog of genetic loci associated with kidney function from analyses of a million individuals.

rs1303630 in RARB gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs10510554 in RARB gene and Body mass index PMID 26426971 2015 The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study.

PMID 28892062 2017 Genome-wide association study identifies 112 new loci for body mass index in the Japanese population.

PMID 28448500 2017 Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults.

PMID 25673413 2015 Genetic studies of body mass index yield new insights for obesity biology.

PMID 28443625 2017 Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits.

PMID 30239722 2019 Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.

PMID 30108127 2018 A Large Multiethnic Genome-Wide Association Study of Adult Body Mass Index Identifies Novel Loci.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs1529672 in RARB gene and Chronic Obstructive Airway Disease PMID 30804561 2019 Genetic landscape of chronic obstructive pulmonary disease identifies heterogeneous cell-type and phenotype associations.

PMID 28166215 2017 Genetic loci associated with chronic obstructive pulmonary disease overlap with loci for lung function and pulmonary fibrosis.

rs7429279 in RARB gene and Dental caries PMID 31235808 2019 Genome-wide analysis of dental caries and periodontitis combining clinical and self-reported data.

rs6782972 in RARB gene and Endometrial Carcinoma PMID 29608257 2018 Genetic overlap between endometriosis and endometrial cancer: evidence from cross-disease genetic correlation and GWAS meta-analyses.

rs6782972 in RARB gene and Endometriosis PMID 29608257 2018 Genetic overlap between endometriosis and endometrial cancer: evidence from cross-disease genetic correlation and GWAS meta-analyses.

rs9861454 in RARB gene and Eosinophil count procedure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs10510562 in RARB gene and Finding of Mean Corpuscular Hemoglobin PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs1529672 in RARB gene and Forced expiratory volume function PMID 23284291 2012 Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.

PMID 30804560 2019 New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries.

rs1153606 in RARB gene and Glaucoma, Open-Angle PMID 29891935 2018 A multiethnic genome-wide association study of primary open-angle glaucoma identifies novel risk loci.

rs1286772 in RARB gene and Gout PMID 22179738 2012 Gout and type 2 diabetes have a mutual inter-dependent effect on genetic risk factors and higher incidences.

rs397518483 in RARB gene and MICROPHTHALMIA, SYNDROMIC 12 PMID 24075189 2013 Recessive and dominant mutations in retinoic acid receptor beta in cases with microphthalmia and diaphragmatic hernia.

PMID 27120018 2016 Gain-of-Function Mutations in RARB Cause Intellectual Disability with Progressive Motor Impairment.

rs993804 in RARB gene and Mental disorders PMID 20889312 2010 A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.

rs397518483 in RARB gene and Movement Disorders PMID 27120018 2016 Gain-of-Function Mutations in RARB Cause Intellectual Disability with Progressive Motor Impairment.

PMID 25457163 2015 Exome sequencing in 32 patients with anophthalmia/microphthalmia and developmental eye defects.

PMID 22318625 2012 Retinoic acid signalling during development.

PMID 17506106 2007 The PDAC syndrome (pulmonary hypoplasia/agenesis, diaphragmatic hernia/eventration, anophthalmia/microphthalmia, and cardiac defect) (Spear syndrome, Matthew-Wood syndrome): report of eight cases including a living child and further evidence for autosomal recessive inheritance.

PMID 24075189 2013 Recessive and dominant mutations in retinoic acid receptor beta in cases with microphthalmia and diaphragmatic hernia.

rs397518483 in RARB gene and Multiple congenital anomalies PMID 24075189 2013 Recessive and dominant mutations in retinoic acid receptor beta in cases with microphthalmia and diaphragmatic hernia.

PMID 17506106 2007 The PDAC syndrome (pulmonary hypoplasia/agenesis, diaphragmatic hernia/eventration, anophthalmia/microphthalmia, and cardiac defect) (Spear syndrome, Matthew-Wood syndrome): report of eight cases including a living child and further evidence for autosomal recessive inheritance.

PMID 27120018 2016 Gain-of-Function Mutations in RARB Cause Intellectual Disability with Progressive Motor Impairment.

PMID 25457163 2015 Exome sequencing in 32 patients with anophthalmia/microphthalmia and developmental eye defects.

PMID 22318625 2012 Retinoic acid signalling during development.

rs397518483 in RARB gene and Muscle hypotonia PMID 24075189 2013 Recessive and dominant mutations in retinoic acid receptor beta in cases with microphthalmia and diaphragmatic hernia.

PMID 22318625 2012 Retinoic acid signalling during development.

PMID 27120018 2016 Gain-of-Function Mutations in RARB Cause Intellectual Disability with Progressive Motor Impairment.

PMID 25457163 2015 Exome sequencing in 32 patients with anophthalmia/microphthalmia and developmental eye defects.

PMID 17506106 2007 The PDAC syndrome (pulmonary hypoplasia/agenesis, diaphragmatic hernia/eventration, anophthalmia/microphthalmia, and cardiac defect) (Spear syndrome, Matthew-Wood syndrome): report of eight cases including a living child and further evidence for autosomal recessive inheritance.

rs2363527 in RARB gene and Non-obstructive azoospermia PMID 22197933 2011 A genome-wide association study in Chinese men identifies three risk loci for non-obstructive azoospermia.

rs10510554 in RARB gene and Physical Activity Measurement PMID 28448500 2017 Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults.

rs115463265 in RARB gene and Protein measurement PMID 30134952 2018 Cross-genetic determination of maternal and neonatal immune mediators during pregnancy.

rs993804 in RARB gene and Psychotic Disorders PMID 20889312 2010 A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.

rs1529672 in RARB gene and Pulmonary function PMID 21946350 2011 Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function.

rs1529672 in RARB gene and Pulmonary function (finding) PMID 21946350 2011 Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function.

rs1529672 in RARB gene and Respiratory Function Tests PMID 21946350 2011 Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function.

PMID 23284291 2012 Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.

PMID 22837378 2012 Genome-wide association studies identify CHRNA5/3 and HTR4 in the development of airflow obstruction.

rs116199914 in RARB gene and Rheumatoid Arthritis PMID 30251476 2019 Identification of a 3'-Untranslated Genetic Variant of RARB Associated With Carotid Intima-Media Thickness in Rheumatoid Arthritis: A Genome-Wide Association Study.

rs6804842 in RARB gene and Smoking PMID 28443625 2017 Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits.

PMID 30643258 2019 Genome-wide association analyses of risk tolerance and risky behaviors in over 1 million individuals identify hundreds of loci and shared genetic influences.

rs7619139 in RARB gene and Sodium measurement PMID 31409800 2019 GWAS for urinary sodium and potassium excretion highlights pathways shared with cardiovascular traits.

rs1286771 in RARB gene and Tonometry PMID 29785010 2018 Genome-wide analyses identify 68 new loci associated with intraocular pressure and improve risk prediction for primary open-angle glaucoma.

rs73048404 in RARB gene and Vital capacity PMID 30804560 2019 New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries.

rs13085461 in RARB gene and mathematical ability PMID 30038396 2018 Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.

rs1529672 in RARB gene and peak expiratory flow (procedure) PMID 30804560 2019 New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries.