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

    Gene ID: 4306, updated on 12-Jul-2019

    Summary

    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
    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

    Genomic context

    See NR3C2 in Genome Data Viewer
    Location:
    4q31.23
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 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 ret finger protein like 4A pseudogene 4 Neighboring gene VISTA enhancer hs2100 Neighboring gene uncharacterized LOC102724672 Neighboring gene uncharacterized LOC107986195 Neighboring gene RNA, 5S ribosomal pseudogene 166 Neighboring gene argininosuccinate synthetase 1 pseudogene 8

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    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

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated (2018-11-19)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated (2018-11-19)

    ClinGen Genome Curation PagePubMed

    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

    Pathways from BioSystems

    • 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...
    • Preimplantation Embryo, organism-specific biosystem (from WikiPathways)
      Preimplantation Embryo, organism-specific biosystemThe source of this pathway is RNA-Seq data from single-cell pre-implantation embryos (Supplemental Table 1): http://www.nature.com/nsmb/journal/v20/n9/full/nsmb.2660.html Analysis options for runnin...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ41052, MGC133092

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    DNA-binding transcription factor activity TAS
    Traceable Author Statement
    more info
    PubMed 
    DNA-binding transcription factor activity, RNA polymerase II-specific ISA
    Inferred from Sequence Alignment
    more info
     
    DNA-binding transcription factor activity, RNA polymerase II-specific ISM
    Inferred from Sequence Model
    more info
    PubMed 
    DNA-binding transcription factor activity, RNA polymerase II-specific NAS
    Non-traceable Author Statement
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    sequence-specific DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    steroid binding IEA
    Inferred from Electronic Annotation
    more info
     
    steroid hormone receptor activity TAS
    Traceable Author Statement
    more info
    PubMed 
    zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    positive regulation of NIK/NF-kappaB signaling IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of transcription by RNA polymerase II 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
    cytosol TAS
    Traceable Author Statement
    more info
     
    endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
     
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    nucleoplasm TAS
    Traceable Author Statement
    more info
     
    receptor complex IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    mineralocorticoid receptor
    Names
    aldosterone receptor
    mineralocorticoid receptor 1
    mineralocorticoid receptor 2
    mineralocorticoid receptor delta
    nuclear receptor subfamily 3, group C, member 2 variant 3

    NCBI Reference Sequences (RefSeq)

    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 RefSeqGene

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

    mRNA and Protein(s)

    1. NM_000901.5NP_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
      UniProtKB/TrEMBL
      B0ZBF6
      Related
      ENSP00000350815.3, ENST00000358102.8
      Conserved Domains (3) summary
      cd07075
      Location:737984
      NR_LBD_MR; Ligand binding domain of the mineralocorticoid receptor, a member of the nuclear receptor superfamily
      cd07172
      Location:599673
      NR_DBD_GR_PR; DNA-binding domain of glucocorticoid receptor (GR) is composed of two C4-type zinc fingers
      cl25496
      Location:200440
      Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)
    2. NM_001166104.2NP_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:599675
      NR_DBD_GR_PR; DNA-binding domain of glucocorticoid receptor (GR) is composed of two C4-type zinc fingers
      cl11397
      Location:670867
      NR_LBD; The ligand binding domain of nuclear receptors, a family of ligand-activated transcription regulators
      cl25496
      Location:200440
      Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)
    3. NM_001354819.1NP_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:599675
      NR_DBD_GR_PR; DNA-binding domain of glucocorticoid receptor (GR) is composed of two C4-type zinc fingers
      cl11397
      Location:670867
      NR_LBD; The ligand binding domain of nuclear receptors, a family of ligand-activated transcription regulators
      cl25496
      Location:200440
      Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)

    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: Homo sapiens Annotation Release 109

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

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

    mRNA and Protein(s)

    1. XM_011531975.1XP_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 (2) summary
      cd07075
      Location:741988
      NR_LBD_MR; Ligand binding domain of the mineralocorticoid receptor, a member of the nuclear receptor superfamily
      cd07172
      Location:599677
      NR_DBD_GR_PR; DNA-binding domain of glucocorticoid receptor (GR) is composed of two C4-type zinc fingers
    2. XM_011531978.2XP_011530280.1  mineralocorticoid receptor isoform X2

      Conserved Domains (2) summary
      cd07172
      Location:599677
      NR_DBD_GR_PR; DNA-binding domain of glucocorticoid receptor (GR) is composed of two C4-type zinc fingers
      cl11397
      Location:741841
      NR_LBD; The ligand binding domain of nuclear receptors, a family of ligand-activated transcription regulators
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