Aliases for NR3C2 Gene
External Ids for NR3C2 Gene
Previous HGNC Symbols for NR3C2 Gene
Previous GeneCards Identifiers for NR3C2 Gene
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]
GeneCards Summary for NR3C2 Gene
NR3C2 (Nuclear Receptor Subfamily 3 Group C Member 2) is a Protein Coding gene. Diseases associated with NR3C2 include Pseudohypoaldosteronism Type I, Autosomal Dominant and Hypertension, Early-Onset, Autosomal Dominant, With Exacerbation In Pregnancy. Among its related pathways are Gene Expression and ACE Inhibitor Pathway, Pharmacodynamics. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and steroid hormone receptor activity. An important paralog of this gene is NR3C1.
UniProtKB/Swiss-Prot for NR3C2 Gene
Receptor for both mineralocorticoids (MC) such as aldosterone and glucocorticoids (GC) such as corticosterone or cortisol. Binds to mineralocorticoid response elements (MRE) and transactivates target genes. The effect of MC is to increase ion and water transport and thus raise extracellular fluid volume and blood pressure and lower potassium levels.
Mineralocorticoid receptors (MRs) are nuclear hormone receptors of the NR3C class, which also includes androgen, progesterone and glucocorticoid receptors. They can exist as homo- or heterodimers and are coupled to Hsp90 or HMGB proteins.