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

Gene ID: 4306, updated on 18-Sep-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
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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 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)

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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_000901.5NP_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, Q59GQ3
  2. XM_047415706.1XP_047271662.1  mineralocorticoid receptor isoform X2

    UniProtKB/Swiss-Prot
    B0ZBF5, B0ZBF7, P08235, Q2NKL1, Q96KQ8, Q96KQ9
    UniProtKB/TrEMBL
    B0ZBF6, Q59GQ3
    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, Q59GQ3
  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

    UniProtKB/TrEMBL
    Q59GQ3
  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

    UniProtKB/TrEMBL
    Q59GQ3
  2. XM_054350063.1XP_054206038.1  mineralocorticoid receptor isoform X2

    UniProtKB/TrEMBL
    Q59GQ3
  3. XM_054350065.1XP_054206040.1  mineralocorticoid receptor isoform X2

    UniProtKB/TrEMBL
    Q59GQ3
  4. XM_054350062.1XP_054206037.1  mineralocorticoid receptor isoform X1

    UniProtKB/TrEMBL
    Q59GQ3
  5. XM_054350067.1XP_054206042.1  mineralocorticoid receptor isoform X4

    UniProtKB/TrEMBL
    Q59GQ3
  6. XM_054350066.1XP_054206041.1  mineralocorticoid receptor isoform X3

    UniProtKB/TrEMBL
    Q59GQ3