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GeneE
25 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
NR3C2
nuclear receptor subfamily 3 group C member 2
Chromosome 4 Β· 4q31.23
NCBI Gene: 4306Ensembl: ENSG00000151623.16HGNC: HGNC:7979UniProt: B0ZBF6
294PubMed Papers
22Diseases
17Drugs
52Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedReceptorTranscription Factor
RESEARCH IMPACT
TrendingVariant-Rich
CLINICAL
FDA Approved TargetOMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
TBP-class protein bindingnucleoplasmsequence-specific double-stranded DNA bindingsignaling receptor complexautosomal dominant pseudohypoaldosteronism type 1hypertensionRenal pseudohypoaldosteronism type 1pseudohyperaldosteronism type 2
✦AI Summary

NR3C2 encodes the mineralocorticoid receptor (MR), a ligand-dependent nuclear transcription factor that binds aldosterone and corticosterone to regulate ion and water transport, blood pressure, and potassium levels 1. As a member of the nuclear receptor 3 group C family, NR3C2 functions as a sequence-specific DNA-binding transcription factor that transactivates mineralocorticoid response elements in target genes 1. Beyond classical endocrine functions, NR3C2 contributes to cognitive performance through genetic variation affecting verbal memory 2, and plays roles in folliculogenesis, fat metabolism, and insulin resistance 3. Clinically, NR3C2 mutations cause pseudohypoaldosteronism type 1 (PHA1), characterized by mineralocorticoid resistance presenting as salt wasting, hyperkalemia, and elevated plasma renin and aldosterone 4. NR3C2 variants are associated with early-onset hypertension with severe pregnancy exacerbation 4. Emerging evidence links NR3C2 to broader disease susceptibility: loss-of-function mutations disrupt sleep and social behavior relevant to autism spectrum disorder 5, and NR3C2 variants confer risk for polycystic ovary syndrome 3. In acute lymphoblastic leukemia, NR3C2 mutations drive chemotherapy resistance and relapse 6. MR overactivation contributes to pathology across multiple organ systems, making MR antagonists therapeutically important in heart failure, diabetic kidney disease, and hypertension 7.

Sources cited
1
NR3C2 encodes mineralocorticoid receptor, a member of nuclear receptor 3 group C family functioning as ligand-dependent nuclear transcription factor
PMID: 25247642
2
NR3C2 polymorphisms predict memory performance and contribute to cognitive outcomes in major depression
PMID: 27528460
3
NR3C2 plays role in folliculogenesis, fat metabolism, and insulin resistance; variants associated with polycystic ovary syndrome risk
PMID: 36808340
4
NR3C2 mutations cause renal pseudohypoaldosteronism type 1 with mineralocorticoid resistance, salt wasting, and hyperkalemia
PMID: 23392097
5
Loss of nr3c2 function in zebrafish disrupts sleep and social function overlapping with autism-related phenotypes
PMID: 31398340
6
NR3C2 mutations in acute lymphoblastic leukemia drive chemotherapy resistance and relapse acquisition
PMID: 31697823
7
MR overactivation promotes pathophysiology across heart, vasculature, adipose tissue, and kidneys; MR antagonists beneficial in heart failure, diabetic kidney disease, and hypertension
PMID: 38127122
Disease Associationsβ“˜22
autosomal dominant pseudohypoaldosteronism type 1Open Targets
0.78Strong
hypertensionOpen Targets
0.74Strong
Renal pseudohypoaldosteronism type 1Open Targets
0.73Strong
pseudohyperaldosteronism type 2Open Targets
0.68Moderate
myocardial infarctionOpen Targets
0.60Moderate
heart failureOpen Targets
0.60Moderate
chronic kidney diseaseOpen Targets
0.60Moderate
congestive heart failureOpen Targets
0.59Moderate
atrial fibrillationOpen Targets
0.59Moderate
essential hypertensionOpen Targets
0.59Moderate
acneOpen Targets
0.58Moderate
cardiovascular diseaseOpen Targets
0.58Moderate
nephrotic syndromeOpen Targets
0.57Moderate
Duchenne muscular dystrophyOpen Targets
0.55Moderate
type 2 diabetes mellitusOpen Targets
0.55Moderate
cirrhosis of liverOpen Targets
0.54Moderate
contraceptionOpen Targets
0.52Moderate
DysmenorrheaOpen Targets
0.52Moderate
diabetes mellitusOpen Targets
0.48Moderate
preeclampsiaOpen Targets
0.47Moderate
Early-onset hypertension with severe exacerbation in pregnancyUniProt
Pseudohypoaldosteronism 1, autosomal dominantUniProt
Pathogenic Variants52
NM_000901.5(NR3C2):c.2799+1G>APathogenic
Inborn genetic diseases|NR3C2-related disorder|Autosomal dominant pseudohypoaldosteronism type 1|Cervical cancer|not provided
β˜…β˜…β˜†β˜†2025
NM_000901.5(NR3C2):c.1951C>T (p.Arg651Ter)Pathogenic
not provided|Autosomal dominant pseudohypoaldosteronism type 1|Autosomal dominant pseudohypoaldosteronism type 1;Pseudohyperaldosteronism type 2|NR3C2-related disorder|Inborn genetic diseases
β˜…β˜…β˜†β˜†2025β†’ Residue 651
NM_000901.5(NR3C2):c.556_557del (p.Met186fs)Pathogenic
not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 186
NM_000901.5(NR3C2):c.2755C>T (p.Gln919Ter)Pathogenic
Autosomal dominant pseudohypoaldosteronism type 1|NR3C2-related disorder
β˜…β˜…β˜†β˜†2024β†’ Residue 919
NM_000901.5(NR3C2):c.2194C>T (p.Arg732Ter)Pathogenic
not provided|Autosomal dominant pseudohypoaldosteronism type 1
β˜…β˜…β˜†β˜†2024β†’ Residue 732
NM_000901.5(NR3C2):c.373C>T (p.Gln125Ter)Likely pathogenic
Autosomal dominant pseudohypoaldosteronism type 1
β˜…β˜†β˜†β˜†2026β†’ Residue 125
NM_000901.5(NR3C2):c.2015-1G>ALikely pathogenic
not provided
β˜…β˜†β˜†β˜†2025
NM_000901.5(NR3C2):c.2205del (p.Pro736fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 736
NM_000901.5(NR3C2):c.2899C>T (p.Gln967Ter)Pathogenic
Renal tubulopathies
β˜…β˜†β˜†β˜†2025β†’ Residue 967
NM_000901.5(NR3C2):c.2509_2510+2delPathogenic
Renal tubulopathies
β˜…β˜†β˜†β˜†2025
NM_000901.5(NR3C2):c.354del (p.Tyr119fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 119
NM_000901.5(NR3C2):c.2014+2T>CLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2025
NM_000901.5(NR3C2):c.2455T>G (p.Tyr819Asp)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 819
NM_000901.5(NR3C2):c.2453C>G (p.Ser818Trp)Likely pathogenic
Autosomal dominant pseudohypoaldosteronism type 1
β˜…β˜†β˜†β˜†2025β†’ Residue 818
NM_000901.5(NR3C2):c.1685C>A (p.Ser562Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 562
NM_000901.5(NR3C2):c.2860del (p.Lys953_Val954insTer)Pathogenic
Autism spectrum disorder
β˜…β˜†β˜†β˜†2024β†’ Residue 953
NM_000901.5(NR3C2):c.2581C>T (p.Arg861Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 861
NM_000901.5(NR3C2):c.1954C>T (p.Arg652Ter)Pathogenic
Autosomal dominant pseudohypoaldosteronism type 1;Pseudohyperaldosteronism type 2
β˜…β˜†β˜†β˜†2024β†’ Residue 652
NM_000901.5(NR3C2):c.2453C>T (p.Ser818Leu)Pathogenic
Autosomal dominant pseudohypoaldosteronism type 1|not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 818
NM_000901.5(NR3C2):c.1350del (p.Pro451fs)Likely pathogenic
Autosomal dominant pseudohypoaldosteronism type 1
β˜…β˜†β˜†β˜†2023β†’ Residue 451
View on ClinVar β†—
Drug Targets17
BALCINRENONEPhase III
Mineralocorticoid receptor modulator
heart failure
CANRENOATE POTASSIUMApproved
Mineralocorticoid receptor antagonist
cardiovascular disease
CANRENONEApproved
Mineralocorticoid receptor antagonist
cardiovascular disease
DESOXYCORTICOSTERONE ACETATEApproved
Mineralocorticoid receptor agonist
DESOXYCORTICOSTERONE PIVALATEApproved
Mineralocorticoid receptor agonist
primary adrenal insufficiency
DROSPIRENONEApproved
Mineralocorticoid receptor antagonist
acne
EPLERENONEApproved
Mineralocorticoid receptor antagonist
hypertension
FELODIPINEApproved
Mineralocorticoid receptor antagonist
hypertension
FINERENONEApproved
Mineralocorticoid receptor antagonist
cardiovascular disease
FLUDROCORTISONE ACETATEApproved
Mineralocorticoid receptor agonist
adrenogenital syndrome
LY2623091Phase II
Mineralocorticoid receptor antagonist
chronic kidney disease
MT-3995Phase II
Mineralocorticoid receptor antagonist
diabetic nephropathy
NIMODIPINEApproved
Mineralocorticoid receptor antagonist
PF-03882845Phase I
Mineralocorticoid receptor antagonist
SPIRONOLACTONEApproved
Mineralocorticoid receptor antagonist
hypertension
VAMOROLONEApproved
Glucocorticoid receptor agonist
Duchenne muscular dystrophy
XL550Approved
Mineralocorticoid receptor antagonist
hypertension
Related Genes
HSP90AB1Protein interaction100%HSP90AA1Protein interaction100%NCOA1Protein interaction100%PTGES3Protein interaction99%PGRProtein interaction98%FKBP4Protein interaction95%
Tissue Expression6 tissues
Heart
100%
Ovary
60%
Brain
55%
Liver
39%
Lung
25%
Bone Marrow
25%
Gene Interaction Network
Click a node to explore
NR3C2HSP90AB1HSP90AA1NCOA1PTGES3PGRFKBP4
PROTEIN STRUCTURE
Preparing viewer…
PDB4PF3 Β· 1.10 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.27Highly Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.17 [0.12–0.27]
RankingsWhere NR3C2 stands among ~20K protein-coding genes
  • #1,204of 20,598
    Most Researched294 Β· top 10%
  • #116of 1,025
    FDA-Approved Drug Targets13 Β· top quartile
  • #1,287of 5,498
    Most Pathogenic Variants52 Β· top quartile
  • #897of 17,882
    Most Constrained (LOEUF)0.27 Β· top 10%
Genes detectedNR3C2
Sources retrieved25 papers
Response timeβ€”
πŸ“„ Sources
25β–Ό
1
HPA axis in major depression: cortisol, clinical symptomatology and genetic variation predict cognition.
PMID: 27528460
Mol Psychiatry Β· 2017
1.00
2
Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
PMID: 31398340
Cell Β· 2019
0.90
3
Mineralocorticoid receptor overactivation: targeting systemic impact with non-steroidal mineralocorticoid receptor antagonists.
PMID: 38127122
Diabetologia Β· 2024
0.80
4
Therapy-induced mutations drive the genomic landscape of relapsed acute lymphoblastic leukemia.
PMID: 31697823
Blood Β· 2020
0.70
5
Identification of astrocyte regulators by nucleic acid cytometry.
PMID: 36599367
Nature Β· 2023
0.68