NR3C2
Chr 4ADnuclear receptor subfamily 3 group C member 2
Also known as: MCR, MLR, MR, NR3C2VIT
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]
Primary Disease Associations & Inheritance
Clinical highlights
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Moderately missense-constrained (top ~2.5%)
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
NR3C2 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
Clinical and Molecular Characteristics of Primary Aldosteronism in Blacks
RECRUITINGThe MICRON Study - A Steno 1 Substudy
RECRUITINGTransformative Research in Diabetic Nephropathy 2.0
RECRUITINGNon-interventional Study of Patients With Transthyretin (ATTR) Amyloidosis
RECRUITINGYiqi Fumai Lyophilized Injection for Chronic Heart Failure Caused by Coronary Heart Disease
NOT YET RECRUITINGMR Antagonist and LSD1
ACTIVE NOT RECRUITINGOnline Study of People Who Have Genetic Changes and Features of Autism: Simons Searchlight
RECRUITINGExternal Resources
Links to major genomics databases and tools