Gene: ARNTL

Alternate names for this Gene: BMAL1|BMAL1c|JAP3|MOP3|PASD3|TIC|bHLHe5

Gene Summary: The protein encoded by this gene is a basic helix-loop-helix protein that forms a heterodimer with CLOCK. This heterodimer binds E-box enhancer elements upstream of Period (PER1, PER2, PER3) and Cryptochrome (CRY1, CRY2) genes and activates transcription of these genes. PER and CRY proteins heterodimerize and repress their own transcription by interacting in a feedback loop with CLOCK/ARNTL complexes. Defects in this gene have been linked to infertility, problems with gluconeogenesis and lipogenesis, and altered sleep patterns. Several transcript variants encoding different isoforms have been found for this gene.

Gene is located in Chromosome: 11

Location in Chromosome : 11p15.3

Description of this Gene: aryl hydrocarbon receptor nuclear translocator like

Type of Gene: protein-coding

rs11022756 in ARNTL gene and Age at menarche PMID 25231870 2014 Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.

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

rs2896635 in ARNTL gene and Alcohol consumption PMID 30698716 2019 Multiancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions.

rs4353253 in ARNTL gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs11824092 in ARNTL gene and Body mass index 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.

rs10832027 in ARNTL gene and C-reactive protein measurement PMID 30388399 2018 Genome Analyses of >200,000 Individuals Identify 58 Loci for Chronic Inflammation and Highlight Pathways that Link Inflammation and Complex Disorders.

PMID 27286809 2016 Bivariate genome-wide association study identifies novel pleiotropic loci for lipids and inflammation.

rs3993105 in ARNTL gene and Coronary Artery Disease PMID 28714975 2017 Association analyses based on false discovery rate implicate new loci for coronary artery disease.

PMID 29212778 2018 Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease.

rs7928655 in ARNTL gene and Diastolic blood pressure PMID 27841878 2017 Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation.

PMID 30487518 2018 Interethnic analyses of blood pressure loci in populations of East Asian and European descent.

rs10832027 in ARNTL gene and High density lipoprotein measurement PMID 30289880 2018 Heritability informed power optimization (HIPO) leads to enhanced detection of genetic associations across multiple traits.

PMID 30275531 2018 Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program.

rs10832027 in ARNTL gene and Low density lipoprotein cholesterol measurement PMID 30289880 2018 Heritability informed power optimization (HIPO) leads to enhanced detection of genetic associations across multiple traits.

rs7928655 in ARNTL gene and Mean blood pressure PMID 30487518 2018 Interethnic analyses of blood pressure loci in populations of East Asian and European descent.

rs77032081 in ARNTL gene and Progesterone measurement PMID 31169883 2019 Genetic Association Study of Eight Steroid Hormones and Implications for Sexual Dimorphism of Coronary Artery Disease.

rs9633835 in ARNTL gene and Red Blood Cell Count measurement PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs10832027 in ARNTL gene and Serum total cholesterol measurement PMID 30289880 2018 Heritability informed power optimization (HIPO) leads to enhanced detection of genetic associations across multiple traits.

rs6486121 in ARNTL gene and Serum transferrin measurement PMID 25352340 2014 Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis.

rs6486121 in ARNTL gene and Transferrin measurement PMID 25352340 2014 Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis.

rs10832027 in ARNTL gene and Triglycerides measurement PMID 27286809 2016 Bivariate genome-wide association study identifies novel pleiotropic loci for lipids and inflammation.

PMID 30289880 2018 Heritability informed power optimization (HIPO) leads to enhanced detection of genetic associations across multiple traits.

PMID 29507422 2018 A large electronic-health-record-based genome-wide study of serum lipids.

PMID 30698716 2019 Multiancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions.