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

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: mouse all
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Genomic context

Location:: 4q31.23

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	4	NC_000004.12 (148078764..148445508, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	4	NC_060928.1 (151402689..151769605, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	4	NC_000004.11 (148999915..149365850, complement)

Chromosome 4 - NC_000004.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

First Evidence of Mineralocorticoid Receptor Gene and Protein Expression in Rat and Human Thyroid Tissues and Cell Cultures.
Title: First Evidence of Mineralocorticoid Receptor Gene and Protein Expression in Rat and Human Thyroid Tissues and Cell Cultures.
Effects of environmental and genetic interactions on job burnout in coal miners: interactions between occupational stress, coping styles, and NR3C2 gene polymorphisms.
Title: Effects of environmental and genetic interactions on job burnout in coal miners: interactions between occupational stress, coping styles, and NR3C2 gene polymorphisms.
Mineralocorticoid receptor overactivation: targeting systemic impact with non-steroidal mineralocorticoid receptor antagonists.
Title: Mineralocorticoid receptor overactivation: targeting systemic impact with non-steroidal mineralocorticoid receptor antagonists.
Associations of ARMS2 and NR3C2 genes polymorphisms with central serous chorioretinopathy in a Greek population.
Title: Associations of ARMS2 and NR3C2 genes polymorphisms with central serous chorioretinopathy in a Greek population.
CircSTK39 suppresses the proliferation and invasion of bladder cancer by regulating the miR-135a-5p/NR3C2-mediated epithelial-mesenchymal transition signaling pathway.
Title: CircSTK39 suppresses the proliferation and invasion of bladder cancer by regulating the miR-135a-5p/NR3C2-mediated epithelial-mesenchymal transition signaling pathway.
Mineralocorticoid Receptor Antagonists for Preventing Chronic Kidney Disease Progression: Current Evidence and Future Challenges.
Title: Mineralocorticoid Receptor Antagonists for Preventing Chronic Kidney Disease Progression: Current Evidence and Future Challenges.
Down-Regulation of the Mineralocorticoid Receptor (MR) and Up-Regulation of Hydroxysteroid 11-Beta Dehydrogenase Type 2 (HSD11B2) Isoenzyme in Critically Ill Patients.
Title: Down-Regulation of the Mineralocorticoid Receptor (MR) and Up-Regulation of Hydroxysteroid 11-Beta Dehydrogenase Type 2 (HSD11B2) Isoenzyme in Critically Ill Patients.
NR3C2 inhibits the proliferation of colorectal cancer via regulating glucose metabolism and phosphorylating AMPK.
Title: NR3C2 inhibits the proliferation of colorectal cancer via regulating glucose metabolism and phosphorylating AMPK.
NR3C2 mediates oxidised low-density lipoprotein-induced human coronary endothelial cells dysfunction via modulation of NLRP3 inflammasome activation.
Title: NR3C2 mediates oxidised low-density lipoprotein-induced human coronary endothelial cells dysfunction via modulation of NLRP3 inflammasome activation.
The mineralocorticoid receptor gene (NR3C2) is linked to and associated with polycystic ovarian syndrome in Italian families.
Title: The mineralocorticoid receptor gene (NR3C2) is linked to and associated with polycystic ovarian syndrome in Italian families.

Submit: New GeneRIF Correction See all GeneRIFs (225)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

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 EBI GWAS CatalogPubMed
Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of biochemical traits in Korcula Island, Croatia. EBI GWAS Catalog EBI GWAS CatalogPubMed
Meta-analysis of two genome-wide association studies identifies four genetic loci associated with thyroid function. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-50219 (e-PCR)
- UniSTS:17444

NR3C2_2289 (e-PCR)
- UniSTS:280879

SHGC-59557 (e-PCR)
- UniSTS:2866

SHGC-83211 (e-PCR)
- UniSTS:95795

D4S881 (e-PCR)
- UniSTS:50756

SHGC-51231 (e-PCR)
- UniSTS:1121

GDB:193631 (e-PCR)
- UniSTS:155750

NR3C2 (e-PCR)
- UniSTS:266087

G42952 (e-PCR)
- UniSTS:94839

RH123481 (e-PCR)
- UniSTS:135804

D4S3136 (e-PCR)
- UniSTS:81798

SHGC4-1531 (e-PCR)
- UniSTS:25271

SHGC-107594 (e-PCR)
- UniSTS:170441

DXYS12Y (e-PCR)
- UniSTS:74706

G34293 (e-PCR)
- UniSTS:37338

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

Process	Evidence Code	Pubs
involved_in intracellular steroid hormone receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of non-canonical NF-kappaB signal transduction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in signal transduction	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
part_of chromatin	IBA Inferred from Biological aspect of Ancestor more info
part_of 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

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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

NG_013350.2 RefSeqGene

Range

8094..371744

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000901.5 → NP_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:737 → 984

NR_LBD_MR; Ligand binding domain of the mineralocorticoid receptor, a member of the nuclear receptor superfamily

cd07172
Location:599 → 673

NR_DBD_GR_PR; DNA-binding domain of glucocorticoid receptor (GR) is composed of two C4-type zinc fingers

cl25496
Location:200 → 440

Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)
NM_001166104.2 → NP_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:599 → 675

NR_DBD_GR_PR; DNA-binding domain of glucocorticoid receptor (GR) is composed of two C4-type zinc fingers

pfam05109
Location:200 → 440

Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)

cl11397
Location:670 → 867

NR_LBD; The ligand binding domain of nuclear receptors, a family of ligand-activated transcription regulators
NM_001354819.1 → NP_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:599 → 675

NR_DBD_GR_PR; DNA-binding domain of glucocorticoid receptor (GR) is composed of two C4-type zinc fingers

pfam05109
Location:200 → 440

Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)

cl11397
Location:670 → 867

NR_LBD; The ligand binding domain of nuclear receptors, a family of ligand-activated transcription regulators

RNA

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_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000004.12 Reference GRCh38.p14 Primary Assembly

Range

148078764..148445508 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047415708.1 → XP_047271664.1 mineralocorticoid receptor isoform X2

UniProtKB/Swiss-Prot

B0ZBF5, B0ZBF7, P08235, Q2NKL1, Q96KQ8, Q96KQ9

UniProtKB/TrEMBL

B0ZBF6
XM_047415706.1 → XP_047271662.1 mineralocorticoid receptor isoform X2

UniProtKB/Swiss-Prot

B0ZBF5, B0ZBF7, P08235, Q2NKL1, Q96KQ8, Q96KQ9

UniProtKB/TrEMBL

B0ZBF6

Related

ENSP00000341390.4, ENST00000344721.8
XM_047415707.1 → XP_047271663.1 mineralocorticoid receptor isoform X2

UniProtKB/Swiss-Prot

B0ZBF5, B0ZBF7, P08235, Q2NKL1, Q96KQ8, Q96KQ9

UniProtKB/TrEMBL

B0ZBF6
XM_011531975.2 → XP_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:741 → 988

NR_LBD_MR; Ligand binding domain of the mineralocorticoid receptor, a member of the nuclear receptor superfamily

cd07172
Location:599 → 677

NR_DBD_GR_PR; DNA-binding domain of glucocorticoid receptor (GR) is composed of two C4-type zinc fingers

pfam05109
Location:200 → 440

Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)
XM_047415709.1 → XP_047271665.1 mineralocorticoid receptor isoform X4
XM_011531978.3 → XP_011530280.1 mineralocorticoid receptor isoform X3

UniProtKB/TrEMBL

Q59GQ3

Conserved Domains (2) summary

cd07172
Location:599 → 677

NR_DBD_GR_PR; DNA-binding domain of glucocorticoid receptor (GR) is composed of two C4-type zinc fingers

cl11397
Location:741 → 841

NR_LBD; The ligand binding domain of nuclear receptors, a family of ligand-activated transcription regulators