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 Gene Expression. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity and steroid hormone receptor activity. An important paralog of this gene is AR.
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. The major signaling pathway used by MRs is via direct DNA binding and transcriptional regulation of target genes. They can also signal by binding to other proteins, mainly with transcription factors such as NF-kappaB, AP-1 or STAT. MRs are expressed in epithelial tissues such as the distal nephron and colon, and in non-epithelial tissues such as hippocampal and hypothalamic neurons. Mineralocorticoid receptors are unique in that they have two physiological ligands; aldosterone and cortisol, that act as critical regulators of serum sodium and other electrolytes and cardiovascular tone. The human gene encoding the mineralocorticoid receptor has been localized to 4q31.1.