NR3C2

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]

Description

Nuclear receptor subfamily 3 group C member 2

Tissue specificity

Low tissue specificity

Subcell location

Nucleoplasm

Predicted location

Intracellular

Protein family

Disease related genes
FDA approved drug targets
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Nuclear receptors
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Transcription factors

Chromosome

4 (148078762 - 148444698)

Ensembl ID

ENSG00000151623  (ver. 103.38)

Orthologs

Mouse Nr3c2: ENSMUSG00000031618

UniProt

P08235

neXtProt

NX_P08235

Human splice variants
Mouse splice variants

Protein structure