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

Gene ID: 4306, updated on 12-Sep-2021

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
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Genomic context

See NR3C2 in Genome Data Viewer
Location:
4q31.23
Exon count:
11
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (148078764..148444698, complement)
105.20201022 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 Functions

What's a GeneRIF?

Phenotypes

Associated conditions

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
MedGen: C1449842 OMIM: 177735 GeneReviews: Not available
Compare 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
Hypertension, early-onset, autosomal dominant, with severe exacerbation in pregnancy
MedGen: C1854631 OMIM: 605115 GeneReviews: Not available
Compare labs
Meta-analysis of two genome-wide association studies identifies four genetic loci associated with thyroid function.
GeneReviews: Not available

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

Pathways from PubChem

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
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 RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables nuclear receptor activity IBA
Inferred from Biological aspect of Ancestor
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 steroid hormone receptor activity TAS
Traceable Author Statement
more info
PubMed 
enables zinc ion binding 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
 
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
nuclear receptor subfamily 3, group C, member 2 variant 3

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_013350.1 RefSeqGene

    Range
    5107..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 Updated Annotation Release 109.20210514

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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