NR3C2, Official Symbol NR3C2provided by HGNC Official Full Name nuclear receptor subfamily 3 group C member 2provided by HGNC Primary source HGNC:HGNC:7979 See related Ensembl:ENSG00000151623 MIM:600983; AllianceGenome:HGNC:7979 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as MR; MCR; MLR; NR3C2VIT 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. [provided by RefSeq, Oct 2009] Expression Broad expression in colon (RPKM 10.3), thyroid (RPKM 8.7) and 24 other tissues See more Orthologs mouse all