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NR3C2

Chr 4q31.23

nuclear receptor subfamily 3 group C member 2

Aliases:
MR
MANE:
ENST00000358102.8

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Extreme early-onset hypertension

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Renal tubulopathies

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

  • autosomal dominant pseudohypoaldosteronism type 1

    0.78
  • hypertensive disorder

    0.74
  • Renal pseudohypoaldosteronism type 1

    0.73
  • pseudohyperaldosteronism type 2

    0.69
  • heart failure

    0.61
  • myocardial infarction

    0.60
  • chronic kidney disease

    0.60
  • congestive heart failure

    0.59
  • type 2 diabetes mellitus

    0.59
  • nephrotic syndrome

    0.58

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Mineralocorticoid receptor

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

Curated MONDO disease pages that list NR3C2 among their top associated genes.

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.