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Aliases for NR3C2 Gene

Aliases for NR3C2 Gene

  • Nuclear Receptor Subfamily 3 Group C Member 2 2 3 4 5
  • MLR 3 4
  • MCR 3 4
  • MR 3 4
  • Nuclear Receptor Subfamily 3, Group C, Member 2 Variant 3 3
  • Nuclear Receptor Subfamily 3, Group C, Member 2 2
  • Mineralocorticoid Receptor Delta 3
  • Mineralocorticoid Receptor 1 3
  • Mineralocorticoid Receptor 2 3
  • Aldosterone Receptor 3
  • NR3C2VIT 3

External Ids for NR3C2 Gene

Previous HGNC Symbols for NR3C2 Gene

  • MLR

Previous GeneCards Identifiers for NR3C2 Gene

  • GC04M149808
  • GC04M149375
  • GC04M149577
  • GC04M149357
  • GC04M149219
  • GC04M148999
  • GC04M144727

Summaries for NR3C2 Gene

Entrez Gene Summary for NR3C2 Gene

  • 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]

GeneCards Summary for NR3C2 Gene

NR3C2 (Nuclear Receptor Subfamily 3 Group C Member 2) is a Protein Coding gene. Diseases associated with NR3C2 include pseudohypoaldosteronism type i, autosomal dominant and hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy. Among its related pathways are Gene Expression and Agents Acting on the Renin-Angiotensin System Pathway, Pharmacodynamics. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and steroid hormone receptor activity. An important paralog of this gene is AR.

UniProtKB/Swiss-Prot for NR3C2 Gene

  • Receptor for both mineralocorticoids (MC) such as aldosterone and glucocorticoids (GC) such as corticosterone or cortisol. Binds to mineralocorticoid response elements (MRE) and transactivates target genes. The effect of MC is to increase ion and water transport and thus raise extracellular fluid volume and blood pressure and lower potassium levels.

Tocris Summary for NR3C2 Gene

  • Mineralocorticoid receptors (MRs) are nuclear hormone receptors of the NR3C class, which also includes androgen, progesterone and glucocorticoid receptors. They can exist as homo- or heterodimers and are coupled to Hsp90 or HMGB proteins.

Gene Wiki entry for NR3C2 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NR3C2 Gene

Genomics for NR3C2 Gene

Regulatory Elements for NR3C2 Gene

Promoters for NR3C2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around NR3C2 on UCSC Golden Path with GeneCards custom track

Genomic Location for NR3C2 Gene

Chromosome:
4
Start:
148,078,762 bp from pter
End:
148,445,278 bp from pter
Size:
366,517 bases
Orientation:
Minus strand

Genomic View for NR3C2 Gene

Genes around NR3C2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NR3C2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NR3C2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NR3C2 Gene

Proteins for NR3C2 Gene

  • Protein details for NR3C2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P08235-MCR_HUMAN
    Recommended name:
    Mineralocorticoid receptor
    Protein Accession:
    P08235
    Secondary Accessions:
    • B0ZBF5
    • B0ZBF7
    • Q2NKL1
    • Q96KQ8
    • Q96KQ9

    Protein attributes for NR3C2 Gene

    Size:
    984 amino acids
    Molecular mass:
    107067 Da
    Quaternary structure:
    • Heteromultimeric cytoplasmic complex with HSP90, HSP70, and FKBP4, in the absence of ligand. After ligand binding, it translocates to the nucleus and binds to DNA as a homodimer and as a heterodimer with NR3C1. May interact with HSD11B2 in the absence of ligand. Binds the coactivators NCOA1, NCOA2, TIF1 and NRIP1.

    Three dimensional structures from OCA and Proteopedia for NR3C2 Gene

    Alternative splice isoforms for NR3C2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NR3C2 Gene

Proteomics data for NR3C2 Gene at MOPED

Post-translational modifications for NR3C2 Gene

Other Protein References for NR3C2 Gene

Antibody Products

  • R&D Systems Antibodies for NR3C2 (Mineralocorticoid R/NR3C2)

No data available for DME Specific Peptides for NR3C2 Gene

Domains & Families for NR3C2 Gene

Gene Families for NR3C2 Gene

Protein Domains for NR3C2 Gene

Suggested Antigen Peptide Sequences for NR3C2 Gene

Graphical View of Domain Structure for InterPro Entry

P08235

UniProtKB/Swiss-Prot:

MCR_HUMAN :
  • Composed of three domains: a modulating N-terminal domain, a DNA-binding domain and a C-terminal ligand-binding domain.
  • Belongs to the nuclear hormone receptor family. NR3 subfamily.
Domain:
  • Composed of three domains: a modulating N-terminal domain, a DNA-binding domain and a C-terminal ligand-binding domain.
  • Contains 1 nuclear receptor DNA-binding domain.
Family:
  • Belongs to the nuclear hormone receptor family. NR3 subfamily.
genes like me logo Genes that share domains with NR3C2: view

Function for NR3C2 Gene

Molecular function for NR3C2 Gene

GENATLAS Biochemistry:
nuclear recptor subafamily 3,group C,member 1,steroid/thyroid hormone receptor superfamily
UniProtKB/Swiss-Prot Function:
Receptor for both mineralocorticoids (MC) such as aldosterone and glucocorticoids (GC) such as corticosterone or cortisol. Binds to mineralocorticoid response elements (MRE) and transactivates target genes. The effect of MC is to increase ion and water transport and thus raise extracellular fluid volume and blood pressure and lower potassium levels.

Gene Ontology (GO) - Molecular Function for NR3C2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 11518808
genes like me logo Genes that share ontologies with NR3C2: view
genes like me logo Genes that share phenotypes with NR3C2: view

Human Phenotype Ontology for NR3C2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for NR3C2 Gene

MGI Knock Outs for NR3C2:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for NR3C2 Gene

Localization for NR3C2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NR3C2 Gene

Cytoplasm. Nucleus. Endoplasmic reticulum membrane; Peripheral membrane protein. Note=Cytoplasmic and nuclear in the absence of ligand; nuclear after ligand-binding. When bound to HSD11B2, it is found associated with the endoplasmic reticulum membrane.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for NR3C2 Gene COMPARTMENTS Subcellular localization image for NR3C2 gene
Compartment Confidence
endoplasmic reticulum 5
nucleus 5
extracellular 2
plasma membrane 2
cytoskeleton 1
cytosol 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for NR3C2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005789 endoplasmic reticulum membrane IEA --
genes like me logo Genes that share ontologies with NR3C2: view

Pathways & Interactions for NR3C2 Gene

genes like me logo Genes that share pathways with NR3C2: view

Pathways by source for NR3C2 Gene

SIGNOR curated interactions for NR3C2 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for NR3C2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006367 transcription initiation from RNA polymerase II promoter TAS --
GO:0010467 gene expression TAS --
genes like me logo Genes that share ontologies with NR3C2: view

Drugs & Compounds for NR3C2 Gene

(66) Drugs for NR3C2 Gene - From: Novoseek, IUPHAR, DGIdb, HMDB, DrugBank, Tocris, ApexBio, and PharmGKB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Eplerenone Approved Pharma Antagonist, antagonist, Target Selective mineralocorticoid receptor antagonist 89
Spironolactone Approved Pharma Antagonist, antagonist, Target Mineralocorticoid receptor antagonist 159
Drospirenone Approved Pharma Antagonist, binder, Target, antagonist 92
Fludrocortisone Approved Pharma Agonist, agonist, Target 23
Progesterone Approved Pharma Full agonist, Activator, inhibitor, Target, antagonist Endogenous progesterone receptor agonist 500

(50) Additional Compounds for NR3C2 Gene - From: Novoseek, Tocris, and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
RU 26752
76676-33-0
sodium
  • Sodium
  • Sodium ion
7440-23-5
Cortexolone
  • 11-Deoxy-17-hydroxy-Corticosterone
  • 11-Deoxy-17-hydroxycorticosterone
  • 11-Deoxy-Cortisol
  • 11-Deoxycortisol
  • 11-Deoxyhydrocortisone
152-58-9
RU 28318, potassium salt
76676-34-1

(5) Tocris Compounds for NR3C2 Gene

Compound Action Cas Number
Corticosterone Endogenous glucocorticoid 50-22-6
Eplerenone Selective mineralocorticoid receptor antagonist 107724-20-9
RU 26752 Mineralocorticoid receptor antagonist 76676-33-0
RU 28318, potassium salt Potent, selective mineralocorticoid receptor antagonist 76676-34-1
Spironolactone Mineralocorticoid receptor antagonist 52-01-7

(1) ApexBio Compounds for NR3C2 Gene

Compound Action Cas Number
Epleremone 107724-20-9
genes like me logo Genes that share compounds with NR3C2: view

Transcripts for NR3C2 Gene

Unigene Clusters for NR3C2 Gene

Nuclear receptor subfamily 3, group C, member 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for NR3C2 Gene

No ASD Table

Relevant External Links for NR3C2 Gene

GeneLoc Exon Structure for
NR3C2
ECgene alternative splicing isoforms for
NR3C2

Expression for NR3C2 Gene

mRNA expression in normal human tissues for NR3C2 Gene

Protein differential expression in normal tissues from HIPED for NR3C2 Gene

This gene is overexpressed in Plasma (27.1), Pancreatic juice (22.6), and Platelet (19.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for NR3C2 Gene



SOURCE GeneReport for Unigene cluster for NR3C2 Gene Hs.163924

mRNA Expression by UniProt/SwissProt for NR3C2 Gene

P08235-MCR_HUMAN
Tissue specificity: Ubiquitous. Highly expressed in distal tubules, convoluted tubules and cortical collecting duct in kidney, and in sweat glands. Detected at lower levels in cardiomyocytes, in epidermis and in colon enterocytes.
genes like me logo Genes that share expression patterns with NR3C2: view

Protein tissue co-expression partners for NR3C2 Gene

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for NR3C2 Gene

Orthologs for NR3C2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for NR3C2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia NR3C2 35
  • 88.12 (n)
  • 91.55 (a)
NR3C2 36
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NR3C2 35
  • 92.29 (n)
  • 94.86 (a)
NR3C2 36
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Nr3c2 35
  • 86.5 (n)
  • 90.71 (a)
Nr3c2 16
Nr3c2 36
  • 91 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia NR3C2 35
  • 99.7 (n)
  • 99.49 (a)
NR3C2 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Nr3c2 35
  • 86.19 (n)
  • 90 (a)
oppossum
(Monodelphis domestica)
Mammalia NR3C2 36
  • 90 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NR3C2 36
  • 88 (a)
OneToOne
chicken
(Gallus gallus)
Aves NR3C2 35
  • 77.97 (n)
  • 82.94 (a)
NR3C2 36
  • 83 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NR3C2 36
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nr3c2 35
  • 70.9 (n)
  • 69.39 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.970 35
zebrafish
(Danio rerio)
Actinopterygii nr3c2 35
  • 58.54 (n)
  • 54.22 (a)
nr3c2 36
  • 52 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.11644 35
Species with no ortholog for NR3C2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for NR3C2 Gene

ENSEMBL:
Gene Tree for NR3C2 (if available)
TreeFam:
Gene Tree for NR3C2 (if available)

Paralogs for NR3C2 Gene

Paralogs for NR3C2 Gene

genes like me logo Genes that share paralogs with NR3C2: view

Variants for NR3C2 Gene

Sequence variations from dbSNP and Humsavar for NR3C2 Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
rs5522 - 148,436,323(-) GCGCC(A/G)TTGTT reference, missense
rs5523 - 148,435,530(-) AGGGA(A/C)TCCAA reference, missense
rs5526 - 148,435,251(+) ATCAC(A/C/G/T)ATCGG reference, missense
rs5527 - 148,435,200(-) TGTCA(A/G)TACTT reference, missense
VAR_015625 -

Structural Variations from Database of Genomic Variants (DGV) for NR3C2 Gene

Variant ID Type Subtype PubMed ID
nsv4541 CNV Insertion 18451855
nsv293429 CNV Loss 16902084
esv2666114 CNV Deletion 23128226
esv25663 CNV Loss 19812545
nsv880245 CNV Loss 21882294
nsv527076 CNV Loss 19592680
esv2197125 CNV Deletion 18987734
esv2728509 CNV Deletion 23290073
esv259480 OTHER Complex 20981092
esv1084601 CNV Insertion 17803354
nsv880246 CNV Loss 21882294
esv2728510 CNV Deletion 23290073
nsv822769 CNV Gain 20364138

Variation tolerance for NR3C2 Gene

Residual Variation Intolerance Score: 29% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.47; 43.39% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for NR3C2 Gene

HapMap Linkage Disequilibrium report
NR3C2
Human Gene Mutation Database (HGMD)
NR3C2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NR3C2 Gene

Disorders for NR3C2 Gene

MalaCards: The human disease database

(27) MalaCards diseases for NR3C2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
pseudohypoaldosteronism type i, autosomal dominant
  • autosomal dominant pseudohypoaldosteronism type 1
hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy
  • hypertension
pseudohypoaldosteronism
pseudohyperaldosteronism type 2
  • early-onset hypertension with exacerbation in pregnancy
conn's syndrome
  • conn syndrome
- elite association - COSMIC cancer census association via MalaCards
Search NR3C2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MCR_HUMAN
  • Early-onset hypertension with severe exacerbation in pregnancy (EOHSEP) [MIM:605115]: Inheritance is autosomal dominant. The disease is characterized by the onset of severe hypertension before the age of 20, and by suppression of aldosterone secretion. {ECO:0000269 PubMed:10884226}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Pseudohypoaldosteronism 1, autosomal dominant (PHA1A) [MIM:177735]: A salt wasting disease resulting from target organ unresponsiveness to mineralocorticoids. PHA1A is a mild form characterized by target organ defects confined to kidney. Patients may present with neonatal renal salt wasting with hyperkalaemic acidosis despite high aldosterone levels. These patients improve with age and usually become asymptomatic without treatment. {ECO:0000269 PubMed:16972228}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for NR3C2

Genetic Association Database (GAD)
NR3C2
Human Genome Epidemiology (HuGE) Navigator
NR3C2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NR3C2
genes like me logo Genes that share disorders with NR3C2: view

No data available for Genatlas for NR3C2 Gene

Publications for NR3C2 Gene

  1. The intracellular localization of the mineralocorticoid receptor is regulated by 11beta-hydroxysteroid dehydrogenase type 2. (PMID: 11350956) Odermatt A. … Frey F.J. (J. Biol. Chem. 2001) 3 4 23 67
  2. The acute effects of a mineralocorticoid receptor (MR) agonist on nocturnal hypothalamic-adrenal-pituitary (HPA) axis activity in healthy controls. (PMID: 17666187) Buckley T.M. … Schatzberg A.F. (Psychoneuroendocrinology 2007) 23 25 26
  3. Aldosterone as a cardiovascular risk factor. (PMID: 15808807) Rossi G. … Funder J.W. (Trends Endocrinol. Metab. 2005) 23 25 26
  4. Aldosterone and aldosterone antagonism in systemic hypertension. (PMID: 15128471) Frishman W.H. … Stier C.T. (Curr. Hypertens. Rep. 2004) 23 25 26
  5. Differences in the determinants of eplerenone, spironolactone and aldosterone binding to the mineralocorticoid receptor. (PMID: 15554912) Rogerson F.M. … Fuller P.J. (Clin. Exp. Pharmacol. Physiol. 2004) 23 25 26

Products for NR3C2 Gene

  • Addgene plasmids for NR3C2

Sources for NR3C2 Gene

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