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NR3C2 nuclear receptor subfamily 3 group C member 2 [ Homo sapiens (human) ]

Gene ID: 4306, updated on 29-Mar-2023

Summary

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Official Symbol
NR3C2provided by HGNC
Official Full Name
nuclear receptor subfamily 3 group C member 2provided by HGNC
Primary source
HGNC:HGNC:7979
See related
Ensembl:ENSG00000151623 MIM:600983; AllianceGenome:HGNC:7979
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
MR; MCR; MLR; NR3C2VIT
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]
Expression
Broad expression in colon (RPKM 10.3), thyroid (RPKM 8.7) and 24 other tissues See more
Orthologs
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Genomic context

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See NR3C2 in Genome Data Viewer
Location:
4q31.23
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2023_03 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (148078764..148445508, complement)
RS_2023_03 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (151402689..151769605, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (148999915..149365850, complement)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene Rho GTPase activating protein 10 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:148854887-148855386 Neighboring gene VISTA enhancer hs2100 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:149011589-149012238 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr4:149113429-149114628 Neighboring gene uncharacterized LOC102724672 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:149244835-149245396 Neighboring gene uncharacterized LOC124900798 Neighboring gene argininosuccinate synthetase 1 pseudogene 8

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. The mineralocorticoid receptor gene (NR3C2) is linked to and associated with polycystic ovarian syndrome in Italian families. Amin M, et al. Eur Rev Med Pharmacol Sci, 2023 Feb. PMID 36808340
  2. Impact of Mineralocorticoid Receptor Gene NR3C2 on the Prediction of Functional Classification of Left Ventricular Remodeling and Arrhythmia after Acute Myocardial Infarction. Braukyliene R, et al. Int J Environ Res Public Health, 2022 Dec 20. PMID 36612333, Free PMC Article
  3. Emerging vascular cell-specific roles for mineralocorticoid receptor: implications for understanding sex differences in cardiovascular disease. Wolter NL, et al. Am J Physiol Cell Physiol, 2023 Jan 1. PMID 36440858,
  4. Nuclear receptor subfamily 3 group c member 2 (NR3C2) is downregulated due to hypermethylation and plays a tumor-suppressive role in colon cancer. Li X, et al. Mol Cell Biochem, 2022 Nov. PMID 35604518
  5. Sex-Related Signaling of Aldosterone/Mineralocorticoid Receptor Pathway in Calcific Aortic Stenosis. Matilla L, et al. Hypertension, 2022 Aug. PMID 35549329

See all (282) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. NR3C2 mediates oxidised low-density lipoprotein-induced human coronary endothelial cells dysfunction via modulation of NLRP3 inflammasome activation.
    Title: NR3C2 mediates oxidised low-density lipoprotein-induced human coronary endothelial cells dysfunction via modulation of NLRP3 inflammasome activation.
  2. The mineralocorticoid receptor gene (NR3C2) is linked to and associated with polycystic ovarian syndrome in Italian families.
    Title: The mineralocorticoid receptor gene (NR3C2) is linked to and associated with polycystic ovarian syndrome in Italian families.
  3. Impact of Mineralocorticoid Receptor Gene NR3C2 on the Prediction of Functional Classification of Left Ventricular Remodeling and Arrhythmia after Acute Myocardial Infarction.
    Title: Impact of Mineralocorticoid Receptor Gene NR3C2 on the Prediction of Functional Classification of Left Ventricular Remodeling and Arrhythmia after Acute Myocardial Infarction.
  4. Emerging vascular cell-specific roles for mineralocorticoid receptor: implications for understanding sex differences in cardiovascular disease.
    Title: Emerging vascular cell-specific roles for mineralocorticoid receptor: implications for understanding sex differences in cardiovascular disease.
  5. Nuclear receptor subfamily 3 group c member 2 (NR3C2) is downregulated due to hypermethylation and plays a tumor-suppressive role in colon cancer.
    Title: Nuclear receptor subfamily 3 group c member 2 (NR3C2) is downregulated due to hypermethylation and plays a tumor-suppressive role in colon cancer.
  6. Sex-Related Signaling of Aldosterone/Mineralocorticoid Receptor Pathway in Calcific Aortic Stenosis.
    Title: Sex-Related Signaling of Aldosterone/Mineralocorticoid Receptor Pathway in Calcific Aortic Stenosis.
  7. MicroRNA-155-5p Targets NR3C2 to Promote Malignant Progression of Clear Cell Renal Cell Carcinoma.
    Title: MicroRNA-155-5p Targets NR3C2 to Promote Malignant Progression of Clear Cell Renal Cell Carcinoma.
  8. NR3C2 suppresses the proliferation, migration, invasion and angiogenesis of colon cancer cells by inhibiting the AKT/ERK signaling pathway.
    Title: NR3C2 suppresses the proliferation, migration, invasion and angiogenesis of colon cancer cells by inhibiting the AKT/ERK signaling pathway.
  9. Non-genomic steroid signaling through the mineralocorticoid receptor: Involvement of a membrane-associated receptor?
    Title: Non-genomic steroid signaling through the mineralocorticoid receptor: Involvement of a membrane-associated receptor?
  10. The intersection of mineralocorticoid receptor activation and the FGF23-Klotho cascade: a duopoly that promotes renal and cardiovascular injury.
    Title: The intersection of mineralocorticoid receptor activation and the FGF23-Klotho cascade: a duopoly that promotes renal and cardiovascular injury.
Submit: New GeneRIF Correction See all GeneRIFs (217)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Autosomal dominant pseudohypoaldosteronism type 1
MedGen: C1449842 OMIM: 177735 GeneReviews: Not available
Compare labs
Pseudohyperaldosteronism type 2
MedGen: C1854631 OMIM: 605115 GeneReviews: Not available
Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated 2020-04-06)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated 2020-04-06)

ClinGen Genome Curation PagePubMed

EBI GWAS Catalog

Description
A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function.
EBI GWAS Catalog
Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus.
EBI GWAS Catalog
Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
EBI GWAS Catalog
Genome-wide association study of biochemical traits in Korcula Island, Croatia.
EBI GWAS Catalog
Meta-analysis of two genome-wide association studies identifies four genetic loci associated with thyroid function.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ41052, MGC133092

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA-binding transcription factor activity TAS
Traceable Author Statement
more info
 PubMed 
enables DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Inferred from Sequence Alignment
more info
  
enables estrogen response element binding IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
enables nuclear steroid receptor activity TAS
Traceable Author Statement
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables sequence-specific double-stranded DNA binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables steroid binding IEA
Inferred from Electronic Annotation
more info
  
enables zinc ion binding IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in positive regulation of NIK/NF-kappaB signaling IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
involved_in signal transduction TAS
Traceable Author Statement
more info
 PubMed 
involved_in steroid hormone mediated signaling pathway IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in chromatin ISA
Inferred from Sequence Alignment
more info
  
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
  
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
located_in nucleoplasm TAS
Traceable Author Statement
more info
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
part_of receptor complex IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
mineralocorticoid receptor
Names
aldosterone receptor
mineralocorticoid receptor 1
mineralocorticoid receptor 2
mineralocorticoid receptor delta

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_013350.2 RefSeqGene

    Range
    8094..371744
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000901.5 → NP_000892.2  mineralocorticoid receptor isoform 1

    See identical proteins and their annotated locations for NP_000892.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC093678, AC093881, BQ184536, DB232659, M16801
    Consensus CDS
    CCDS3772.1
    UniProtKB/Swiss-Prot
    P08235, Q96KQ9
    UniProtKB/TrEMBL
    B0ZBF6
    Related
    ENSP00000350815.3, ENST00000358102.8
    Conserved Domains (3) summary
    cd07075
    Location:737 → 984
    NR_LBD_MR; Ligand binding domain of the mineralocorticoid receptor, a member of the nuclear receptor superfamily
    cd07172
    Location:599 → 673
    NR_DBD_GR_PR; DNA-binding domain of glucocorticoid receptor (GR) is composed of two C4-type zinc fingers
    cl25496
    Location:200 → 440
    Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)

  2. NM_001166104.2 → NP_001159576.1  mineralocorticoid receptor isoform 2

    See identical proteins and their annotated locations for NP_001159576.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon in the central coding region compared to variant 1, resulting in an isoform (2) that is shorter than isoform 1. Variants 2 and 3 both encode the same isoform (2).
    Source sequence(s)
    AC093678, AC093881, BC111758, BQ184536, DB232659
    Consensus CDS
    CCDS54811.1
    UniProtKB/Swiss-Prot
    P08235
    Related
    ENSP00000423510.1, ENST00000512865.5
    Conserved Domains (3) summary
    cd07172
    Location:599 → 675
    NR_DBD_GR_PR; DNA-binding domain of glucocorticoid receptor (GR) is composed of two C4-type zinc fingers
    pfam05109
    Location:200 → 440
    Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)
    cl11397
    Location:670 → 867
    NR_LBD; The ligand binding domain of nuclear receptors, a family of ligand-activated transcription regulators

  3. NM_001354819.1 → NP_001341748.1  mineralocorticoid receptor isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and lacks an alternate in-frame exon in the central coding region compared to variant 1, resulting in an isoform (2) that is shorter than isoform 1. Variants 2 and 3 both encode the same isoform (2).
    Source sequence(s)
    AC069272, AC093678, AC093881, AC106889
    Consensus CDS
    CCDS54811.1
    Conserved Domains (3) summary
    cd07172
    Location:599 → 675
    NR_DBD_GR_PR; DNA-binding domain of glucocorticoid receptor (GR) is composed of two C4-type zinc fingers
    pfam05109
    Location:200 → 440
    Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)
    cl11397
    Location:670 → 867
    NR_LBD; The ligand binding domain of nuclear receptors, a family of ligand-activated transcription regulators

RNA

  1. NR_148974.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks two alternate exons compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC093678, AC093881, AJ315514

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_03

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

    Range
    148078764..148445508 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047415708.1 → XP_047271664.1  mineralocorticoid receptor isoform X2

    UniProtKB/Swiss-Prot
    Q96KQ9
    UniProtKB/TrEMBL
    B0ZBF6

  2. XM_047415706.1 → XP_047271662.1  mineralocorticoid receptor isoform X2

    UniProtKB/Swiss-Prot
    Q96KQ9
    UniProtKB/TrEMBL
    B0ZBF6
    Related
    ENSP00000341390.4, ENST00000344721.8

  3. XM_047415707.1 → XP_047271663.1  mineralocorticoid receptor isoform X2

    UniProtKB/Swiss-Prot
    Q96KQ9
    UniProtKB/TrEMBL
    B0ZBF6

  4. XM_011531975.2 → XP_011530277.1  mineralocorticoid receptor isoform X1

    See identical proteins and their annotated locations for XP_011530277.1

    UniProtKB/Swiss-Prot
    P08235
    UniProtKB/TrEMBL
    A0A0D9SFL9
    Related
    ENSP00000486719.1, ENST00000625323.2
    Conserved Domains (3) summary
    cd07075
    Location:741 → 988
    NR_LBD_MR; Ligand binding domain of the mineralocorticoid receptor, a member of the nuclear receptor superfamily
    cd07172
    Location:599 → 677
    NR_DBD_GR_PR; DNA-binding domain of glucocorticoid receptor (GR) is composed of two C4-type zinc fingers
    pfam05109
    Location:200 → 440
    Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)

  5. XM_047415709.1 → XP_047271665.1  mineralocorticoid receptor isoform X4

  6. XM_011531978.3 → XP_011530280.1  mineralocorticoid receptor isoform X3

    Conserved Domains (2) summary
    cd07172
    Location:599 → 677
    NR_DBD_GR_PR; DNA-binding domain of glucocorticoid receptor (GR) is composed of two C4-type zinc fingers
    cl11397
    Location:741 → 841
    NR_LBD; The ligand binding domain of nuclear receptors, a family of ligand-activated transcription regulators

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    151402689..151769605 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054350064.1 → XP_054206039.1  mineralocorticoid receptor isoform X2

  2. XM_054350063.1 → XP_054206038.1  mineralocorticoid receptor isoform X2

  3. XM_054350065.1 → XP_054206040.1  mineralocorticoid receptor isoform X2

  4. XM_054350062.1 → XP_054206037.1  mineralocorticoid receptor isoform X1

  5. XM_054350067.1 → XP_054206042.1  mineralocorticoid receptor isoform X4

  6. XM_054350066.1 → XP_054206041.1  mineralocorticoid receptor isoform X3

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P08235.2 GenPept UniProtKB/Swiss-Prot:P08235

Gene LinkOut

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