Gene: ARNT

Alternate names for this Gene: HIF-1-beta|HIF-1beta|HIF1-beta|HIF1B|HIF1BETA|TANGO|bHLHe2

Gene Summary: This gene encodes a protein containing a basic helix-loop-helix domain and two characteristic PAS domains along with a PAC domain. The encoded protein binds to ligand-bound aryl hydrocarbon receptor and aids in the movement of this complex to the nucleus, where it promotes the expression of genes involved in xenobiotic metabolism. This protein is also a co-factor for transcriptional regulation by hypoxia-inducible factor 1. Chromosomal translocation of this locus with the ETV6 (ets variant 6) gene on chromosome 12 have been described in leukemias. Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 1

Location in Chromosome : 1q21.3

Description of this Gene: aryl hydrocarbon receptor nuclear translocator

Type of Gene: protein-coding

rs10305677 in ARNT gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs72704658 in ARNT gene and Cutaneous Melanoma PMID 30429480 2018 Novel pleiotropic risk loci for melanoma and nevus density implicate multiple biological pathways.

rs72992015 in ARNT gene and Glomerular Filtration Rate PMID 31451708 2019 Mapping eGFR loci to the renal transcriptome and phenome in the VA Million Veteran Program.

rs10305650 in ARNT gene and High density lipoprotein measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs72704658 in ARNT gene and Malignant melanoma of skin of lower limb PMID 30429480 2018 Novel pleiotropic risk loci for melanoma and nevus density implicate multiple biological pathways.

rs72704658 in ARNT gene and Malignant melanoma of skin of upper limb PMID 30429480 2018 Novel pleiotropic risk loci for melanoma and nevus density implicate multiple biological pathways.

rs10305650 in ARNT gene and Serum HDL cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs7518440 in ARNT gene and Serum total cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs10305751 in ARNT gene and White Blood Cell Count procedure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.