NR3C2 nuclear receptor subfamily 3 group C member 2
Gene ID: 4306, updated on 10-Oct-2024Gene type: protein coding
Also known as: MR; MCR; MLR; NR3C2VIT
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- Go to complete Gene record for NR3C2
- Go to Variation Viewer for NR3C2 variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function. GeneReviews: Not available | |
| Autosomal dominant pseudohypoaldosteronism type 1 | See labs |
| Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus. GeneReviews: Not available | |
| Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women. GeneReviews: Not available | |
| Genome-wide association study of biochemical traits in Korcula Island, Croatia. GeneReviews: Not available | |
| Meta-analysis of two genome-wide association studies identifies four genetic loci associated with thyroid function. GeneReviews: Not available | |
| Pseudohyperaldosteronism type 2 | See labs |
Copy number response
| Description |
|---|
| Copy number response Triplosensitivity No evidence available (Last evaluated 2020-04-06) ClinGen Genome Curation PageHaploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2020-04-06) ClinGen Genome Curation PagePubMed |
Genomic context
- Location:
- 4q31.23
- Sequence:
- Chromosome: 4; NC_000004.12 (148078764..148445508, complement)
- Total number of exons:
- 13
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for NR3C2 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- NR3C2 database
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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