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MGP001932

UniProt Annotations

Entry Information
Gene Namenuclear receptor subfamily 3, group C, member 2
Protein EntryMCR_HUMAN
UniProt IDP08235
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=4; Comment=Additional isoforms seem to exist.; Name=1; IsoId=P08235-1; Sequence=Displayed; Name=2; IsoId=P08235-2; Sequence=VSP_007358, VSP_007359; Note=Lacks steroid-binding activity and acts as ligand-independent transactivator.; Name=3; IsoId=P08235-3; Sequence=VSP_007357; Name=4; Synonyms=Delta; IsoId=P08235-4; Sequence=VSP_007360;
DiseaseEarly-onset hypertension with severe exacerbation in pregnancy (EOHSEP) [MIM:605115]: 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. {ECO:0000269|PubMed:10884226}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseasePseudohypoaldosteronism 1, autosomal dominant (PHA1A) [MIM:177735]: A salt wasting disease resulting from target organ unresponsiveness to mineralocorticoids. PHA1A is a mild form characterized by target organ defects confined to kidney. Patients may present with neonatal renal salt wasting with hyperkalaemic acidosis despite high aldosterone levels. These patients improve with age and usually become asymptomatic without treatment. {ECO:0000269|PubMed:16972228}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DomainComposed of three domains: a modulating N-terminal domain, a DNA-binding domain and a C-terminal ligand-binding domain.
FunctionReceptor 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. {ECO:0000269|PubMed:3037703}.
PtmPhosphorylated. {ECO:0000269|PubMed:1655735}.
SimilarityBelongs to the nuclear hormone receptor family. NR3 subfamily. {ECO:0000305}.
SimilarityContains 1 nuclear receptor DNA-binding domain. {ECO:0000255|PROSITE-ProRule:PRU00407}.
Subcellular LocationCytoplasm. Nucleus. Endoplasmic reticulum membrane; Peripheral membrane protein. Note=Cytoplasmic and nuclear in the absence of ligand; nuclear after ligand-binding. When bound to HSD11B2, it is found associated with the endoplasmic reticulum membrane.
SubunitHeteromultimeric cytoplasmic complex with HSP90, HSP70, and FKBP4, in the absence of ligand. After ligand binding, it translocates to the nucleus and binds to DNA as a homodimer and as a heterodimer with NR3C1. May interact with HSD11B2 in the absence of ligand. Binds the coactivators NCOA1, NCOA2, TIF1 and NRIP1. {ECO:0000269|PubMed:10935545, ECO:0000269|PubMed:11350956, ECO:0000269|PubMed:11518808, ECO:0000269|PubMed:16061183}.
Tissue SpecificityUbiquitous. Highly expressed in distal tubules, convoluted tubules and cortical collecting duct in kidney, and in sweat glands. Detected at lower levels in cardiomyocytes, in epidermis and in colon enterocytes. {ECO:0000269|PubMed:11518808, ECO:0000269|PubMed:9141514}.
Web ResourceName=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/NR3C2ID44262ch4q31.html";
Web ResourceName=Wikipedia; Note=Mineralocorticoid receptor entry; URL="http://en.wikipedia.org/wiki/Mineralocorticoid_receptor";
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