NR3C2 Chromosome 4
Nuclear receptor subfamily 3 group C member 2
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What This Gene Does
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]
Gene Info
Gene Group
Nuclear receptor subfamily 3 group C
Locus Type
gene with protein product
Location
4q31.23
Ensembl
ENSG00000151623
Associated Conditions (8)
Autosomal dominant pseudohypoaldosteronism type 1
Pseudohyperaldosteronism type 2
Inborn genetic diseases
Familial cancer of breast
NR3C2-related disorder
Autism spectrum disorder
Pseudohypoaldosteronism
Cervical cancer
Key Variants
RS1378121578
Conflicting classifications of pathogenicity
Autosomal dominant pseudohypoaldosteronism type 1, Pseudohyperaldosteronism type 2, Autosomal dominant pseudohypoaldosteronism type 1
Health Risk
RS138893620
Conflicting classifications of pathogenicity
Autosomal dominant pseudohypoaldosteronism type 1, Pseudohyperaldosteronism type 2, Autosomal dominant pseudohypoaldosteronism type 1
Health Risk
RS149589666
Conflicting classifications of pathogenicity
Autosomal dominant pseudohypoaldosteronism type 1, Inborn genetic diseases, Autosomal dominant pseudohypoaldosteronism type 1
Health Risk
RS149902988
Conflicting classifications of pathogenicity
Autosomal dominant pseudohypoaldosteronism type 1, Inborn genetic diseases, Autosomal dominant pseudohypoaldosteronism type 1
Health Risk
RS184268528
Conflicting classifications of pathogenicity
Autosomal dominant pseudohypoaldosteronism type 1, Familial cancer of breast, Autosomal dominant pseudohypoaldosteronism type 1
Health Risk
RS368322580
Conflicting classifications of pathogenicity
Autosomal dominant pseudohypoaldosteronism type 1, Inborn genetic diseases, Pseudohyperaldosteronism type 2
Health Risk
RS368453653
Conflicting classifications of pathogenicity
Autosomal dominant pseudohypoaldosteronism type 1, NR3C2-related disorder, Autosomal dominant pseudohypoaldosteronism type 1
Health Risk
RS544822637
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS561422296
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS757033341
Conflicting classifications of pathogenicity
Autosomal dominant pseudohypoaldosteronism type 1, Pseudohyperaldosteronism type 2, Autosomal dominant pseudohypoaldosteronism type 1
Health Risk
RS121912563
Likely pathogenic
Autosomal dominant pseudohypoaldosteronism type 1, Autosomal dominant pseudohypoaldosteronism type 1
Health Risk
RS121912571
Likely pathogenic
Autosomal dominant pseudohypoaldosteronism type 1, Autosomal dominant pseudohypoaldosteronism type 1
Health Risk
All Variants (46)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1378121578 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant pseudohypoaldosteronism type 1, Pseudohyperaldosteronism type 2, Autosomal dominant pseudohypoaldosteronism type 1 |
| RS138893620 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant pseudohypoaldosteronism type 1, Pseudohyperaldosteronism type 2, Autosomal dominant pseudohypoaldosteronism type 1 |
| RS149589666 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant pseudohypoaldosteronism type 1, Inborn genetic diseases, Autosomal dominant pseudohypoaldosteronism type 1 |
| RS149902988 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant pseudohypoaldosteronism type 1, Inborn genetic diseases, Autosomal dominant pseudohypoaldosteronism type 1 |
| RS184268528 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant pseudohypoaldosteronism type 1, Familial cancer of breast, Autosomal dominant pseudohypoaldosteronism type 1 |
| RS368322580 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant pseudohypoaldosteronism type 1, Inborn genetic diseases, Pseudohyperaldosteronism type 2 |
| RS368453653 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant pseudohypoaldosteronism type 1, NR3C2-related disorder, Autosomal dominant pseudohypoaldosteronism type 1 |
| RS544822637 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS561422296 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS757033341 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant pseudohypoaldosteronism type 1, Pseudohyperaldosteronism type 2, Autosomal dominant pseudohypoaldosteronism type 1 |
| RS121912563 | Health Risk | Likely pathogenic | Autosomal dominant pseudohypoaldosteronism type 1, Autosomal dominant pseudohypoaldosteronism type 1 |
| RS121912571 | Health Risk | Likely pathogenic | Autosomal dominant pseudohypoaldosteronism type 1, Autosomal dominant pseudohypoaldosteronism type 1 |
| RS1553986374 | Health Risk | Likely pathogenic | Autosomal dominant pseudohypoaldosteronism type 1, Autosomal dominant pseudohypoaldosteronism type 1 |
| RS1560928649 | Health Risk | Likely pathogenic | Autosomal dominant pseudohypoaldosteronism type 1, Autosomal dominant pseudohypoaldosteronism type 1, Autosomal dominant pseudohypoaldosteronism type 1 |
| RS1578859390 | Health Risk | Likely pathogenic | — |
| RS2126657667 | Health Risk | Likely pathogenic | Autosomal dominant pseudohypoaldosteronism type 1, Autosomal dominant pseudohypoaldosteronism type 1 |
| RS2149871784 | Health Risk | Likely pathogenic | Autosomal dominant pseudohypoaldosteronism type 1, Autosomal dominant pseudohypoaldosteronism type 1 |
| RS2530539414 | Health Risk | Likely pathogenic | — |
| RS2531826011 | Health Risk | Likely pathogenic | Autosomal dominant pseudohypoaldosteronism type 1, Autosomal dominant pseudohypoaldosteronism type 1 |
| RS748573472 | Health Risk | Likely pathogenic | Autosomal dominant pseudohypoaldosteronism type 1, Autosomal dominant pseudohypoaldosteronism type 1 |
| RS1131691568 | Health Risk | Pathogenic | — |
| RS1131691921 | Health Risk | Pathogenic | Autosomal dominant pseudohypoaldosteronism type 1, Pseudohyperaldosteronism type 2, NR3C2-related disorder |
| RS121912562 | Health Risk | Pathogenic | Autosomal dominant pseudohypoaldosteronism type 1, Autism spectrum disorder, Autosomal dominant pseudohypoaldosteronism type 1 |
| RS121912564 | Health Risk | Pathogenic | Autosomal dominant pseudohypoaldosteronism type 1, Autosomal dominant pseudohypoaldosteronism type 1 |
| RS121912565 | Health Risk | Pathogenic | Autosomal dominant pseudohypoaldosteronism type 1, Autosomal dominant pseudohypoaldosteronism type 1 |
| RS121912566 | Health Risk | Pathogenic | Autosomal dominant pseudohypoaldosteronism type 1, Autosomal dominant pseudohypoaldosteronism type 1 |
| RS121912567 | Health Risk | Pathogenic | Autosomal dominant pseudohypoaldosteronism type 1, Autosomal dominant pseudohypoaldosteronism type 1 |
| RS121912568 | Health Risk | Pathogenic | Autosomal dominant pseudohypoaldosteronism type 1, Autosomal dominant pseudohypoaldosteronism type 1 |
| RS121912569 | Health Risk | Pathogenic | Autosomal dominant pseudohypoaldosteronism type 1, Pseudohyperaldosteronism type 2, Autosomal dominant pseudohypoaldosteronism type 1 |
| RS121912570 | Health Risk | Pathogenic | Autosomal dominant pseudohypoaldosteronism type 1, Autosomal dominant pseudohypoaldosteronism type 1 |
| RS121912572 | Health Risk | Pathogenic | Autosomal dominant pseudohypoaldosteronism type 1, Autosomal dominant pseudohypoaldosteronism type 1 |
| RS121912573 | Health Risk | Pathogenic | Autosomal dominant pseudohypoaldosteronism type 1, Autosomal dominant pseudohypoaldosteronism type 1 |
| RS121912574 | Health Risk | Pathogenic | Autosomal dominant pseudohypoaldosteronism type 1, Autosomal dominant pseudohypoaldosteronism type 1 |
| RS1553990750 | Health Risk | Pathogenic | Autosomal dominant pseudohypoaldosteronism type 1, Autosomal dominant pseudohypoaldosteronism type 1 |
| RS1560735659 | Health Risk | Pathogenic | Autosomal dominant pseudohypoaldosteronism type 1, Autosomal dominant pseudohypoaldosteronism type 1 |
| RS1560910156 | Health Risk | Pathogenic | Autosomal dominant pseudohypoaldosteronism type 1, Autosomal dominant pseudohypoaldosteronism type 1 |
| RS1560949756 | Health Risk | Pathogenic | Autosomal dominant pseudohypoaldosteronism type 1, Autosomal dominant pseudohypoaldosteronism type 1 |
| RS1750066791 | Health Risk | Pathogenic | — |
| RS2149871751 | Health Risk | Pathogenic | Autosomal dominant pseudohypoaldosteronism type 1, Autosomal dominant pseudohypoaldosteronism type 1 |
| RS2530679674 | Health Risk | Pathogenic | — |
| RS2531825719 | Health Risk | Pathogenic | Autosomal dominant pseudohypoaldosteronism type 1, Autosomal dominant pseudohypoaldosteronism type 1 |
| RS2531829170 | Health Risk | Pathogenic | Autosomal dominant pseudohypoaldosteronism type 1, Autosomal dominant pseudohypoaldosteronism type 1 |
| RS2531835861 | Health Risk | Pathogenic | Autosomal dominant pseudohypoaldosteronism type 1, Autosomal dominant pseudohypoaldosteronism type 1 |
| RS879255348 | Health Risk | Pathogenic | Pseudohypoaldosteronism, Pseudohypoaldosteronism |
| RS1553986377 | Health Risk | Pathogenic/Likely pathogenic | Autosomal dominant pseudohypoaldosteronism type 1, NR3C2-related disorder, Autosomal dominant pseudohypoaldosteronism type 1 |
| RS2530538343 | Health Risk | Pathogenic/Likely pathogenic | NR3C2-related disorder, Cervical cancer, Inborn genetic diseases |