Gene: NR3C2

Alternate names for this Gene: MCR|MLR|MR|NR3C2VIT

Gene Summary: This gene encodes the mineralocorticoid receptor, which mediates aldosterone actions on salt and water balance within restricted target cells. The protein functions as a ligand-dependent transcription factor that binds to mineralocorticoid response elements in order to transactivate target genes. Mutations in this gene cause autosomal dominant pseudohypoaldosteronism type I, a disorder characterized by urinary salt wasting. Defects in this gene are also associated with early onset hypertension with severe exacerbation in pregnancy. Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 4

Location in Chromosome : 4q31.23

Description of this Gene: nuclear receptor subfamily 3 group C member 2

Type of Gene: protein-coding

rs6535594 in NR3C2 gene and Albuminuria PMID 30220432 2018 Genetic Association of Albuminuria with Cardiometabolic Disease and Blood Pressure.

rs3931397 in NR3C2 gene and Alzheimer's Disease PMID 26830138 2016 Family-based association analyses of imputed genotypes reveal genome-wide significant association of Alzheimer's disease with OSBPL6, PTPRG, and PDCL3.

rs121912562 in NR3C2 gene and Autism Spectrum Disorders PMID 30763456 2019 Targeted resequencing of 358 candidate genes for autism spectrum disorder in a Chinese cohort reveals diagnostic potential and genotype-phenotype correlations.

rs28789690 in NR3C2 gene and Central corneal thickness PMID 29760442 2018 Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases.

rs3931397 in NR3C2 gene and Corneal Topography PMID 23291589 2013 Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus.

rs41511344 in NR3C2 gene and Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy PMID 15908963 2005 Crystal structure of a mutant mineralocorticoid receptor responsible for hypertension.

PMID 15967794 2005 A ligand-mediated hydrogen bond network required for the activation of the mineralocorticoid receptor.

PMID 10884226 2000 Activating mineralocorticoid receptor mutation in hypertension exacerbated by pregnancy.

rs17024518 in NR3C2 gene and Low density lipoprotein cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs6535594 in NR3C2 gene and Microalbuminuria PMID 31511532 2019 Genome-wide association meta-analyses and fine-mapping elucidate pathways influencing albuminuria.

rs121912563 in NR3C2 gene and Pseudohypoaldosteronism, Type I, Autosomal Dominant PMID 16972228 2007 Mineralocorticoid receptor mutations are the principal cause of renal type 1 pseudohypoaldosteronism.

PMID 11134129 2000 A novel missense mutation of mineralocorticoid receptor gene in one Japanese family with a renal form of pseudohypoaldosteronism type 1.

PMID 16954160 2006 Elucidating the underlying molecular pathogenesis of NR3C2 mutants causing autosomal dominant pseudohypoaldosteronism type 1.

PMID 12788847 2003 Different inactivating mutations of the mineralocorticoid receptor in fourteen families affected by type I pseudohypoaldosteronism.

PMID 27780983 2016 A novel mutation in the human mineralocorticoid receptor gene in a Japanese family with autosomal-dominant pseudohypoaldosteronism type 1.

PMID 19571553 2009 Clinical and molecular features of type 1 pseudohypoaldosteronism.

PMID 16757525 2006 Recurrence of the R947X mutation in unrelated families with autosomal dominant pseudohypoaldosteronism type 1: evidence for a mutational hot spot in the mineralocorticoid receptor gene.

rs17024518 in NR3C2 gene and Serum LDL cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs10519948 in NR3C2 gene and Triglycerides measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs61296613 in NR3C2 gene and White Blood Cell Count procedure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.