Mineralocorticoid Receptor (MR; 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]

Mineralocorticoid Receptor Structure

mmdbimage-17_med

(From Structure)

Link

(From Aceview)

There are 97 articles specifically referring to this gene in PubMed. Functionally, the gene has been tested for association to diseases (Hypertension; Hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy; hypertension, early-onset, autosomal dominant, with severe exacerbation in pregnancy; Pregnancy Complications, Cardiovascular; Pseudohypoaldosteronism; Pseudohypoaldosteronism type I, autosomal dominant), proposed to participate in pathway (Aldosterone-regulated sodium reabsorption) and processes (signal transduction, regulation of transcription, DNA-dependent). Proteins are expected to have molecular functions (protein binding, metal ion binding, receptor activity, sequence-specific DNA binding and 4 others) and to localize in various compartments (nucleus, cytoplasm, endoplasmic reticulum, endoplasmic reticulum membrane). Putative protein interactors have been described (ACTA1, ACTG1, ANKRD35ANDPIAS3, AR, FKBP4, HSP90AA1, HSPA4, NR3C1, PROX1, PTGES3, SKOR1ANDPIAS1, TRIM24). 

(From HuGENavigator)

  • Hypertension 
  • Stress, Psychological 
  • Attention Deficit Disorder with Hyperactivity 
  • Bipolar Disorder 
  • Cardiovascular Diseases 
  • Arousal 
  • Wakefulness 
  • Metabolic Syndrome X 
  • Myocardial Infarction 
  • Neuropsychological Tests 
  • Object Attachment 
  • Pre-Eclampsia 
  • Pregnancy Complications, Cardiovascular 
  • Pseudohypoaldosteronism 
  • Psychiatric Status Rating Scales 
  • Reinforcement Schedule 
  • Reward 
  • Schizophrenia 
  • Stress Disorders, Traumatic 
  • Alcoholism 
  • Tobacco Use Disorder 
  • Atherosclerosis 
  • Hyperkalemia 
  • Hypertension, Renal 
  • Hypotension 
  • Intelligence Tests 
  • Learning 
  • Mental Disorders 
  • Mental Processes 
  • Child Behavior Disorders 
  • Cognition 
  • Depressive Disorder 
  • Diabetes Mellitus, Type 2 
  • Edema

Assay Kits and Services are available from INDIGO Biosciences.

Kits are offered in different assay formats to accommodate researchers’ needs: 3x 32, 1x 96, and 1x 384 assay formats for screening small numbers of test compounds, as well as custom bulk reagents for HTS applications. Assay systems are all inclusive, providing reporter cells, optimized growth media, media for diluting test compounds, a positive-control agonist, luciferase detection reagent, a white assay plate, a detailed protocol, and a protocol quick guide. All kits are shipped on dry ice.

MR Reporter Cells are prepared using INDIGO’s proprietary CryoMite™ process. This cryo-preservation method yields high cell viability post-thaw, and provides the convenience of immediately dispensing healthy, division-competent reporter cells into assay plates. There is no need for intermediate spin-and-wash steps, viability determinations, or cell titer adjustments.

The principle application of this assay product is in the screening of test samples to quantify functional activities, either agonist or antagonist, that they may exert against the human mineralocorticoid receptor. This kit product is an all-inclusive assay system that includes, in addition to MR Reporter Cells, two optimized media for use during cell culture and (optionally) in diluting the test samples, a reference agonist, Luciferase Detection Reagent, a cell culture-ready assay plate, and a detailed protocol.

MR; MCR; MLR; NR3C2VIT

(From Aceview)

The gene contains 13 distinct gt-ag introns. Transcription produces 7 different mRNAs, 6 alternatively spliced variants and 1 unspliced form. There are 3 probable alternative promotors, 3 non overlapping alternative last exons and 2 validated alternative polyadenylation sites (see the diagram). The mRNAs appear to differ by truncation of the 5′ end, truncation of the 3′ end, presence or absence of 2 cassette exons, overlapping exons with different boundaries. Note that mRNA .cAug10 was found in vivo, although it is a predicted target of nonsense mediated mRNA decay (NMD). Efficacy of translation may be reduced by the presence of a shorter translated product (uORF) initiating at an AUG upstream of the main open reading frame (in variant bAug10). 

image-27_med

(From STRINGS)

ACTA1, ACTG1, ANKRD35ANDPIAS3, AR, FKBP4, HSP90AA1, HSPA4, NR3C1, PROX1, PTGES3, SKOR1ANDPIAS1, TRIM24

(From KEGG)

  • Spironolactone
  • Potassium canrenoate
  • Canrenone
  • Eplerenone
  • Aldosterone
  • Desoxycortone

(From BioGPS)

205259_at_med