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

Gene ID: 4306, updated on 7-Aug-2014
Official Symbol
NR3C2provided by HGNC
Official Full Name
nuclear receptor subfamily 3, group C, member 2provided by HGNC
Primary source
HGNC:7979
See related
Ensembl:ENSG00000151623; HPRD:02991; MIM:600983; Vega:OTTHUMG00000161455
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]
See NR3C2 in Epigenomics, MapViewer
Location:
4q31.1
Exon count:
11
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 4 NC_000004.12 (148078764..148444698, complement)
105 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 microRNA 4799 Neighboring gene ret finger protein-like 4A pseudogene 4 Neighboring gene uncharacterized LOC102724672 Neighboring gene uncharacterized LOC101929065 Neighboring gene RNA, 5S ribosomal pseudogene 166 Neighboring gene argininosuccinate synthetase 1 pseudogene 8

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Hypertension, early-onset, autosomal dominant, with severe exacerbation in pregnancy
MedGen: C1854631 OMIM: 605115 GeneReviews: Not available
Compare labs
Pseudohypoaldosteronism type 1 autosomal dominant
MedGen: C1449842 OMIM: 177735 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function.
NHGRI GWA Catalog
Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus.
NHGRI GWA Catalog
Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
NHGRI GWA Catalog
Genome-wide association study of biochemical traits in Korcula Island, Croatia.
NHGRI GWA Catalog
Meta-analysis of two genome-wide association studies identifies four genetic loci associated with thyroid function.
NHGRI GWA Catalog
  • ACE Inhibitor Pathway, organism-specific biosystem (from WikiPathways)
    ACE Inhibitor Pathway, organism-specific biosystemThe core of this pathway was elucidated over a century ago and involves the conversion of angiotensinogen to angiotensin I (Ang I) by renin, its subsequent conversion to angiotensin II (Ang II) by an...
  • Aldosterone-regulated sodium reabsorption, organism-specific biosystem (from KEGG)
    Aldosterone-regulated sodium reabsorption, organism-specific biosystemSodium transport across the tight epithelia of Na+ reabsorbing tissues such as the distal part of the kidney nephron and colon is the major factor determining total-body Na+ levels, and thus, long-te...
  • Aldosterone-regulated sodium reabsorption, conserved biosystem (from KEGG)
    Aldosterone-regulated sodium reabsorption, conserved biosystemSodium transport across the tight epithelia of Na+ reabsorbing tissues such as the distal part of the kidney nephron and colon is the major factor determining total-body Na+ levels, and thus, long-te...
  • Gene Expression, organism-specific biosystem (from REACTOME)
    Gene Expression, organism-specific biosystemGene Expression covers the pathways by which genomic DNA is transcribed to yield RNA, the regulation of these transcription processes, and the pathways by which newly-made RNA Transcripts are process...
  • Generic Transcription Pathway, organism-specific biosystem (from REACTOME)
    Generic Transcription Pathway, organism-specific biosystemOVERVIEW OF TRANSCRIPTION REGULATION: Detailed studies of gene transcription regulation in a wide variety of eukaryotic systems has revealed the general principles and mechanisms by which cell- or t...
  • Nuclear Receptor transcription pathway, organism-specific biosystem (from REACTOME)
    Nuclear Receptor transcription pathway, organism-specific biosystemA classic example of bifunctional transcription factors is the family of Nuclear Receptor (NR) proteins. These are DNA-binding transcription factors that bind certain hormones, vitamins, and other s...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ41052, MGC133092

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
sequence-specific DNA binding IEA
Inferred from Electronic Annotation
more info
 
sequence-specific DNA binding transcription factor activity IEA
Inferred from Electronic Annotation
more info
 
steroid binding IEA
Inferred from Electronic Annotation
more info
 
steroid hormone receptor activity IEA
Inferred from Electronic Annotation
more info
 
zinc ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
gene expression TAS
Traceable Author Statement
more info
 
regulation of transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
signal transduction TAS
Traceable Author Statement
more info
PubMed 
steroid hormone mediated signaling pathway IEA
Inferred from Electronic Annotation
more info
 
transcription initiation from RNA polymerase II promoter TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
receptor complex IDA
Inferred from Direct Assay
more info
 
Preferred Names
mineralocorticoid receptor
Names
mineralocorticoid receptor
aldosterone receptor
mineralocorticoid receptor 1
mineralocorticoid receptor delta

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_013350.1 

    Range
    5001..368758
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000901.4NP_000892.2  mineralocorticoid receptor isoform 1

    See proteins identical to NP_000892.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC093678, AC093881, BQ184536, DB232659, M16801
    Consensus CDS
    CCDS3772.1
    UniProtKB/TrEMBL
    B0ZBF6
    UniProtKB/Swiss-Prot
    P08235
    Related
    ENSP00000350815, OTTHUMP00000220259, ENST00000358102, OTTHUMT00000364986
    Conserved Domains (3) summary
    cd07075
    Location:737984
    Blast Score: 1427
    NR_LBD_MR; Ligand binding domain of the mineralocorticoid receptor, a member of the nuclear receptor superfamily
    cd07172
    Location:599673
    Blast Score: 460
    NR_DBD_GR_PR; DNA-binding domain of glucocorticoid receptor (GR) is composed of two C4-type zinc fingers
    PHA03255
    Location:171366
    Blast Score: 87
    PHA03255; BDLF3; Provisional
  2. NM_001166104.1NP_001159576.1  mineralocorticoid receptor isoform 2

    See proteins identical to 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.
    Source sequence(s)
    AC093678, AC093881, BC111758, BQ184536, DB232659
    Consensus CDS
    CCDS54811.1
    UniProtKB/Swiss-Prot
    P08235
    Conserved Domains (4) summary
    cd07172
    Location:599675
    Blast Score: 450
    NR_DBD_GR_PR; DNA-binding domain of glucocorticoid receptor (GR) is composed of two C4-type zinc fingers
    PHA03255
    Location:171366
    Blast Score: 88
    PHA03255; BDLF3; Provisional
    pfam01819
    Location:284349
    Blast Score: 87
    Levi_coat; Levivirus coat protein
    cl11397
    Location:670867
    Blast Score: 1144
    NR_LBD; The ligand binding domain of nuclear receptors, a family of ligand-activated transcription regulators

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000004.12 

    Range
    148078764..148444698
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005263014.1XP_005263071.1  

    See proteins identical to XP_005263071.1

    UniProtKB/TrEMBL
    B0ZBF6
    Related
    ENSP00000341390, OTTHUMP00000220257, ENST00000344721, OTTHUMT00000364984
    Conserved Domains (3) summary
    cd07075
    Location:737984
    Blast Score: 1427
    NR_LBD_MR; Ligand binding domain of the mineralocorticoid receptor, a member of the nuclear receptor superfamily
    cd07172
    Location:599673
    Blast Score: 460
    NR_DBD_GR_PR; DNA-binding domain of glucocorticoid receptor (GR) is composed of two C4-type zinc fingers
    PHA03255
    Location:171366
    Blast Score: 87
    PHA03255; BDLF3; Provisional
  2. XM_006714222.1XP_006714285.1  

    See proteins identical to XP_006714285.1

    UniProtKB/TrEMBL
    B0ZBF6
    Conserved Domains (3) summary
    cd07075
    Location:737984
    Blast Score: 1427
    NR_LBD_MR; Ligand binding domain of the mineralocorticoid receptor, a member of the nuclear receptor superfamily
    cd07172
    Location:599673
    Blast Score: 460
    NR_DBD_GR_PR; DNA-binding domain of glucocorticoid receptor (GR) is composed of two C4-type zinc fingers
    PHA03255
    Location:171366
    Blast Score: 87
    PHA03255; BDLF3; Provisional

Alternate HuRef

Genomic

  1. AC_000136.1 

    Range
    144727062..145090717
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018915.2 

    Range
    148978561..149342342
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)