MCR 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. Defects in NR3C2 are a cause of autosomal dominant pseudohypoaldosteronism type I (AD-PHA1). PHA1 is characterized by urinary salt wasting, resulting from target organ unresponsiveness to mineralocorticoids. There are 2 forms of PHA1: the autosomal dominant form that is mild, and the recessive form which is more severe and due to defects in any of the epithelial sodium channel subunits. In AD-PHA1 the target organ defect is confined to kidney. Clinical expression can vary from asymptomatic to moderate. It may be severe at birth, but symptoms remit with age. Familial and sporadic cases have been reported. Defects in NR3C2 are a cause of early-onset hypertension with severe exacerbation in pregnancy (EOHSEP). Inheritance is autosomal dominant. The disease is characterized by the onset of severe hypertension before the age of 20, and by suppression of aldosterone secretion. Belongs to the nuclear hormone receptor family. NR3 subfamily. 4 isoforms of the human protein are produced by alternative splicing. Note: This description may include information from UniProtKB.
Protein type: DNA-binding; Nuclear receptor
Chromosomal Location of Human Ortholog: 8 C1|8 36.34 cM
Cellular Component:  cytoplasm; endoplasmic reticulum; GABA-ergic synapse; glutamatergic synapse; membrane; nucleoplasm; nucleus; postsynaptic density, intracellular component; presynaptic active zone cytoplasmic component; receptor complex
Molecular Function:  DNA binding; DNA-binding transcription factor activity; double-stranded DNA binding; lipid binding; metal ion binding; protein binding; protein heterodimerization activity; protein homodimerization activity; sequence-specific DNA binding; steroid binding; steroid hormone receptor activity; zinc ion binding
Biological Process:  cellular sodium ion homeostasis; excretion; positive regulation of NIK/NF-kappaB signaling; regulation of cell proliferation; regulation of postsynaptic membrane potential; regulation of synaptic vesicle exocytosis; regulation of transcription, DNA-templated
Reference #:  Q8VII8 (UniProtKB)
Alt. Names/Synonyms: aldosterone receptor; MCR; Mineralocorticoid receptor; Mlr; MR; Nr3c2; Nuclear receptor subfamily 3 group C member 2; nuclear receptor subfamily 3, group C, member 2; OTTMUSP00000026404; OTTMUSP00000026405
Gene Symbols: Nr3c2
Molecular weight: 106,447 Da
Basal Isoelectric point: 7.88  Predict pI for various phosphorylation states
Select Structure to View Below


Protein Structure Not Found.

Cross-references to other databases:  STRING  |  Reactome  |  BioGPS  |  Pfam  |  Phospho.ELM  |  NetworKIN  |  UniProtKB  |  Entrez-Gene  |  Ensembl Gene  |  NURSA