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

    Gene ID: 4306, updated on 27-Nov-2024

    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; 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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See NR3C2 in Genome Data Viewer
    Location:
    4q31.23
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (148078764..148445508, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (151402689..151769605, complement)
    RS_2024_09 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 H3K4me1 hESC enhancer GRCh37_chr4:148741752-148742252 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:148742253-148742753 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:148752558-148753757 Neighboring gene RNA, 7SL, cytoplasmic 254, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22011 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr4:148787949-148788626 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:148788627-148789303 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:148854887-148855386 Neighboring gene ret finger protein like 4A pseudogene 4 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22012 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 MPRA-validated peak5133 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15744 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22013 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15745 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15746 Neighboring gene uncharacterized LOC124900798 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 Functions

    What's a GeneRIF?

    Phenotypes

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 TBP-class protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables estrogen response element binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables nuclear receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    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
     
    Component Evidence Code Pubs
    located_in chromatin IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    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
     
    part_of 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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_000901.5NP_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
      B0ZBF5, B0ZBF7, P08235, Q2NKL1, Q96KQ8, Q96KQ9
      UniProtKB/TrEMBL
      B0ZBF6, Q59GQ3
      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/TrEMBL
      Q59GQ3
      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
      pfam05109
      Location:200440
      Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)
      cl11397
      Location:670867
      NR_LBD; The ligand binding domain of nuclear receptors, a family of ligand-activated transcription regulators
    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
      UniProtKB/TrEMBL
      Q59GQ3
      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
      pfam05109
      Location:200440
      Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)
      cl11397
      Location:670867
      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_2024_08

    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_047415708.1XP_047271664.1  mineralocorticoid receptor isoform X2

      UniProtKB/Swiss-Prot
      B0ZBF5, B0ZBF7, P08235, Q2NKL1, Q96KQ8, Q96KQ9
      UniProtKB/TrEMBL
      B0ZBF6
    2. XM_047415706.1XP_047271662.1  mineralocorticoid receptor isoform X2

      UniProtKB/Swiss-Prot
      B0ZBF5, B0ZBF7, P08235, Q2NKL1, Q96KQ8, Q96KQ9
      UniProtKB/TrEMBL
      B0ZBF6
      Related
      ENSP00000341390.4, ENST00000344721.8
    3. XM_047415707.1XP_047271663.1  mineralocorticoid receptor isoform X2

      UniProtKB/Swiss-Prot
      B0ZBF5, B0ZBF7, P08235, Q2NKL1, Q96KQ8, Q96KQ9
      UniProtKB/TrEMBL
      B0ZBF6
    4. XM_011531975.2XP_011530277.1  mineralocorticoid receptor isoform X1

      See identical proteins and their annotated locations for XP_011530277.1

      UniProtKB/TrEMBL
      Q59GQ3
      Related
      ENSP00000486719.1, ENST00000625323.2
      Conserved Domains (3) 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
      pfam05109
      Location:200440
      Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)
    5. XM_047415709.1XP_047271665.1  mineralocorticoid receptor isoform X4

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

      UniProtKB/TrEMBL
      Q59GQ3
      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

    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_054350064.1XP_054206039.1  mineralocorticoid receptor isoform X2

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

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

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

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

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