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Aliases for NR3C2 Gene

Aliases for NR3C2 Gene

  • Nuclear Receptor Subfamily 3, Group C, Member 2 2 3
  • MLR 3 4
  • MCR 3 4
  • MR 3 4
  • Nuclear Receptor Subfamily 3 Group C Member 2 4
  • Mineralocorticoid Receptor Delta 3
  • Mineralocorticoid Receptor 1 3
  • Mineralocorticoid Receptor 3
  • Aldosterone Receptor) 6
  • Aldosterone Receptor 3
  • NR3C2VIT 3

External Ids for NR3C2 Gene

Previous Symbols for NR3C2 Gene

  • MLR

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 pseudohyperaldosteronism type 2 and hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy. Among its related pathways are Gene Expression and Gene Expression. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity 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. The major signaling pathway used by MRs is via direct DNA binding and transcriptional regulation of target genes. They can also signal by binding to other proteins, mainly with transcription factors such as NF-kappaB, AP-1 or STAT. MRs are expressed in epithelial tissues such as the distal nephron and colon, and in non-epithelial tissues such as hippocampal and hypothalamic neurons. Mineralocorticoid receptors are unique in that they have two physiological ligands; aldosterone and cortisol, that act as critical regulators of serum sodium and other electrolytes and cardiovascular tone. The human gene encoding the mineralocorticoid receptor has been localized to 4q31.1.

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

Genomic Location for NR3C2 Gene

Start:
148,078,762 bp from pter
End:
148,444,698 bp from pter
Size:
365,937 bases
Orientation:
Minus strand

Genomic View for NR3C2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for NR3C2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NR3C2 Gene

Regulatory Elements 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

No data available for DME Specific Peptides for NR3C2 Gene

Domains for NR3C2 Gene

Gene Families for NR3C2 Gene

HGNC:
  • NR :Nuclear hormone receptors
IUPHAR :

UniProtKB/Swiss-Prot:

MCR_HUMAN
Domain:
  • Composed of three domains: a modulating N-terminal domain, a DNA-binding domain and a C-terminal ligand-binding domain:
    • P08235
  • Contains 1 nuclear receptor DNA-binding domain.:
    • P08235
Family:
  • Belongs to the nuclear hormone receptor family. NR3 subfamily.:
    • P08235
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:0003700 sequence-specific DNA binding transcription factor activity IEA --
GO:0003707 steroid hormone receptor activity IEA --
GO:0005496 steroid binding IEA --
GO:0005515 protein binding IPI 11518808
GO:0008270 zinc ion binding IEA --
genes like me logo Genes that share ontologies with NR3C2: view
genes like me logo Genes that share phenotypes with NR3C2: view

Animal Models for NR3C2 Gene

MGI Knock Outs for NR3C2:

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting 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
cytosol 2
extracellular 2
plasma membrane 2
cytoskeleton 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for NR3C2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus --
GO:0005654 nucleoplasm TAS --
GO:0005783 endoplasmic reticulum --
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0016020 membrane --
genes like me logo Genes that share ontologies with NR3C2: view

Pathways for NR3C2 Gene

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

Pathways by source for NR3C2 Gene

Gene Ontology (GO) - Biological Process for NR3C2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006367 transcription initiation from RNA polymerase II promoter TAS --
GO:0006883 cellular sodium ion homeostasis --
GO:0007165 signal transduction TAS 3037703
genes like me logo Genes that share ontologies with NR3C2: view

Compounds for NR3C2 Gene

(5) Tocris Compounds for NR3C2 Gene

Compound Action Cas Number
Canrenone Mineralocorticoid receptor antagonist [976-71-6]
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]

(6) HMDB Compounds for NR3C2 Gene

Compound Synonyms Cas Number PubMed IDs
Aldosterone
  • (+)-Aldosterone
52-39-1
Cortexolone
  • 11-Deoxy-17-hydroxycorticosterone
152-58-9
Corticosterone
  • 11,21-Dihydroxypregn-4-ene-3,20-dione
50-22-6
Cortisol
  • 11-Hydrocortisone
50-23-7
Deoxycorticosterone
  • 11-Dehydroxycorticosterone
64-85-7

(11) Drugbank Compounds for NR3C2 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
(11-BETA)-11,21-DIHYDROXY-PREGN-4-ENE-3,20-DIONE
target
Aldosterone
  • (+)-aldosterone
52-39-1 target
Desoxycorticosterone Pivalate
  • Deoxycorticosterone Pivalate
808-48-0 target agonist
Drospirenone
  • 6β,7β,15β,16β-dimethylene-3-oxo-17α-pregn-4-ene-21,17 carbolactone
67392-87-4 target antagonist
Eplerenone
107724-20-9 target antagonist

(12) IUPHAR Ligand for NR3C2 Gene

Ligand Type Action Affinity Pubmed IDs
aldosterone Agonist Agonist 10
fludrocortisone Agonist Agonist 9.92
dexamethasone Agonist Agonist 9
cortisol Agonist Agonist 8
deoxycorticosterone Agonist Agonist 7.2
progesterone Pore Blocker Inhibition 5.3
drospirenone Antagonist Antagonist 5
spironolactone Antagonist Antagonist 1
eplerenone Antagonist Antagonist 1
onapristone Antagonist Antagonist
ZK112993 Antagonist Antagonist
RU28318 Antagonist Antagonist

(103) Novoseek inferred chemical compound relationships for NR3C2 Gene

Compound -log(P) Hits PubMed IDs
11beta-hydroxysteroid 95.4 119
spironolactone 93.9 129
eplerenone 93.7 70
cortisone 91.3 64
potassium canrenoate 86.4 10

(1) PharmGKB related drug/compound annotations for NR3C2 Gene

Drug/compound Annotation
enalapril CA
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:

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression 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 expressions with NR3C2: view

Orthologs for NR3C2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for NR3C2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NR3C2 36
  • 99.7 (n)
  • 99.49 (a)
NR3C2 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia NR3C2 36
  • 88.12 (n)
  • 91.55 (a)
NR3C2 37
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NR3C2 36
  • 92.29 (n)
  • 94.86 (a)
NR3C2 37
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Nr3c2 36
  • 86.5 (n)
  • 90.71 (a)
Nr3c2 16
Nr3c2 37
  • 91 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia NR3C2 37
  • 90 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NR3C2 37
  • 88 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Nr3c2 36
  • 86.19 (n)
  • 90 (a)
chicken
(Gallus gallus)
Aves NR3C2 36
  • 77.97 (n)
  • 82.94 (a)
NR3C2 37
  • 83 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NR3C2 37
  • 80 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.970 36
tropical clawed frog
(Silurana tropicalis)
Amphibia nr3c2 36
  • 70.9 (n)
  • 69.39 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.11644 36
zebrafish
(Danio rerio)
Actinopterygii nr3c2 36
  • 58.54 (n)
  • 54.22 (a)
nr3c2 37
  • 52 (a)
OneToOne
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 MAF
rs2871 -- 148,078,873(-) TTAAA(A/G)AAACA utr-variant-3-prime
rs5522 - 148,436,323(-) GCGCC(A/G)TTGTT missense, reference
rs5524 -- 148,435,463(-) GACTA(C/T)TATTC synonymous-codon, reference
rs5525 -- 148,435,364(+) CTCCC(A/G)TCATC synonymous-codon, reference
rs5527 - 148,435,200(-) TGTCA(A/G)TACTT reference, missense

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

Relevant External Links for NR3C2 Gene

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

Disorders for NR3C2 Gene

(2) OMIM Diseases for NR3C2 Gene (600983)

UniProtKB/Swiss-Prot

MCR_HUMAN
  • 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.
  • 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.

(92) Novoseek inferred disease relationships for NR3C2 Gene

Disease -log(P) Hits PubMed IDs
pseudohypoaldosteronism 91.1 32
hyperaldosteronism 82.3 9
aldosteronism primary 79.8 9
liddles syndrome 79.1 9
mineralocorticoid hypertension 78.7 3

Relevant External Links for NR3C2

Genetic Association Database (GAD)
NR3C2
Human Genome Epidemiology (HuGE) Navigator
NR3C2
genes like me logo Genes that share disorders with NR3C2: view

Publications for NR3C2 Gene

  1. The unliganded mineralocorticoid receptor is associated with heat shock proteins 70 and 90 and the immunophilin FKBP-52. (PMID: 9392437) Bruner K.L. … Litwack G. (Recept. Signal Transduct. 1997) 3 4 23 25
  2. Tissue-specific expression of alpha and beta messenger ribonucleic acid isoforms of the human mineralocorticoid receptor in normal and pathological states. (PMID: 9141514) Zennaro M.-C. … Lombes M. (J. Clin. Endocrinol. Metab. 1997) 3 4 23
  3. Cysteines 849 and 942 of human mineralocorticoid receptor are crucial for steroid binding. (PMID: 9724527) Lupo B. … Auzou G. (Biochemistry 1998) 3 4 23
  4. Mutations in the mineralocorticoid receptor gene cause autosomal dominant pseudohypoaldosteronism type I. (PMID: 9662404) Geller D.S. … Lifton R.P. (Nat. Genet. 1998) 3 4 23
  5. Mechanistic aspects of mineralocorticoid receptor activation. (PMID: 10760050) Hellal-Levy C. … Rafestin-Oblin M.-E. (Kidney Int. 2000) 3 4 23

Products for NR3C2 Gene

  • Addgene plasmids for NR3C2

Sources for NR3C2 Gene

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