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 ... See more...

Aliases for NR3C2 Gene

Aliases for NR3C2 Gene

  • Nuclear Receptor Subfamily 3 Group C Member 2 2 3 4 5
  • Mineralocorticoid Receptor 3 4
  • 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 Severe Exacerbation In Pregnancy. Among its related pathways are Preimplantation Embryo and Gene Expression. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and steroid hormone receptor activity. An important paralog of this gene is PGR.

UniProtKB/Swiss-Prot Summary 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

Additional gene information for NR3C2 Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NR3C2 Gene

Genomics for NR3C2 Gene

GeneHancer (GH) Regulatory Elements for NR3C2 Gene

Promoters and enhancers for NR3C2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH04J148441 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 505.7 +1.1 1077 7.6 ZSCAN5C POLR2G USF1 SP1 PHF8 FOS CTCF ZIC2 POLR2A ZBTB10 NR3C2 ENSG00000287292 lnc-ARHGAP10-5 PRMT9 ARHGAP10
GH04J148787 Enhancer 0.7 FANTOM5 Ensembl 14.3 -342.8 -342823 0.6 TRIM28 WT1 FEZF1 ZNF547 ZNF549 FOXA1 CEBPB NR3C2 piR-54987-098 LOC105377481 lnc-NR3C2-7 RF00994-785 ENSG00000287292
GH04J148782 Enhancer 0.6 Ensembl ENCODE 14.5 -337.1 -337123 1.2 TEAD4 YY1 TOE1 SP1 NR3C2 piR-54987-098 lnc-NR3C2-7 RF00994-785 ENSG00000287292
GH04J148795 Enhancer 0.7 FANTOM5 Ensembl ENCODE 10.2 -350.2 -350223 1 TEAD4 YY1 GATA2 NR3C2 piR-54987-098 lnc-NR3C2-7 LOC105377481 RF00994-785 ENSG00000287292
GH04J148790 Enhancer 0.6 Ensembl ENCODE 12.5 -345.4 -345423 0.6 FOS CEBPB MAFK NFE2L2 NR3C2 piR-54987-098 lnc-NR3C2-7 LOC105377481 RF00994-785 ENSG00000287292
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NR3C2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NR3C2

Top Transcription factor binding sites by QIAGEN in the NR3C2 gene promoter:
  • AP-1
  • ATF-2
  • c-Jun
  • CUTL1
  • PPAR-gamma1
  • PPAR-gamma2
  • TBP
  • TFIID

Genomic Locations for NR3C2 Gene

Genomic Locations for NR3C2 Gene
chr4:148,078,762-148,445,278
(GRCh38/hg38)
Size:
366,517 bases
Orientation:
Minus strand
chr4:148,999,913-149,365,850
(GRCh37/hg19)
Size:
365,938 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:
    107082 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.
    Miscellaneous:
    • [Isoform 2]: Lacks steroid-binding activity and acts as ligand-independent transactivator.

    Three dimensional structures from OCA and Proteopedia for NR3C2 Gene

    Alternative splice isoforms for NR3C2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NR3C2 Gene

Post-translational modifications for NR3C2 Gene

No data available for DME Specific Peptides for NR3C2 Gene

Domains & Families for NR3C2 Gene

Gene Families for NR3C2 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • FDA approved drug targets
  • Nuclear receptors
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for NR3C2 Gene

Blocks:
  • Vitamin D receptor signature
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for NR3C2 Gene

GenScript: Design optimal peptide antigens:
  • Nuclear receptor subfamily 3 group C member 2 (MCR_HUMAN)
  • NR3C2 protein (Q2NKL1_HUMAN)

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.
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

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.
GENATLAS Biochemistry:
nuclear recptor subafamily 3,group C,member 1,steroid/thyroid hormone receptor superfamily

Phenotypes From GWAS Catalog for NR3C2 Gene

Gene Ontology (GO) - Molecular Function for NR3C2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific NAS 19274049
GO:0003677 DNA binding IEA --
GO:0003700 DNA-binding transcription factor activity TAS 3037703
GO:0003707 steroid hormone receptor activity TAS 9662404
GO:0005496 steroid binding IEA --
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

  • Taconic Biosciences Mouse Models for NR3C2

Clone Products

  • Addgene plasmids for NR3C2

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NR3C2 gene
Compartment Confidence
nucleus 5
endoplasmic reticulum 5
cytosol 4
plasma membrane 2
extracellular 2
cytoskeleton 2
mitochondrion 2
peroxisome 2
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for NR3C2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin ISA --
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IEA --
GO:0005783 endoplasmic reticulum 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

SIGNOR curated interactions for NR3C2 Gene

Inactivates:
Is activated by:

Gene Ontology (GO) - Biological Process for NR3C2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription by RNA polymerase II IEA --
GO:0006367 transcription initiation from RNA polymerase II promoter TAS --
GO:0007165 signal transduction TAS 3037703
GO:0043401 steroid hormone mediated signaling pathway IEA --
genes like me logo Genes that share ontologies with NR3C2: view

Drugs & Compounds for NR3C2 Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Eplerenone Approved Pharma Antagonist, Target, antagonist Selective mineralocorticoid receptor antagonist 106
Spironolactone Approved Pharma Antagonist, Target, antagonist Mineralocorticoid receptor antagonist 212
Drospirenone Approved Pharma Antagonist, Target, antagonist, binder 118
Fludrocortisone Approved, Investigational Pharma Agonist, Target, agonist 34
Progesterone Approved, Vet_approved Pharma Full agonist, Activator, Agonist, Inhibition, Pore Blocker, Target, antagonist, agonist, inhibitor Endogenous progesterone receptor agonist 721

(39) Additional Compounds for NR3C2 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
sodium
  • Na(+)
  • Na+
  • SODIUM ion
7440-23-5
Cortexolone
  • 11-Desoxy-17-hydroxycorticosterone
  • Cortodoxone
  • 11-Deoxycortisol
  • SK&F 3050
  • Reichstein substance S
152-58-9

(4) Tocris Compounds for NR3C2 Gene

Compound Action Cas Number
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

(10) ApexBio Compounds for NR3C2 Gene

Compound Action Cas Number
Betamethasone hydrochloride Glucocorticoid receptor agonist 956901-32-9
Canrenone 976-71-6
Ciclesonide 126544-47-6
Corticosterone 50-22-6
Epleremone 107724-20-9
Glucocorticoid receptor agonist 1245526-82-2
GSK 9027 1229096-88-1
Potassium Canrenoate Aldosterone antagonist 2181-04-6
RU 26752 76676-33-0
RU 28318, potassium salt 76676-34-1
genes like me logo Genes that share compounds with NR3C2: view

Drug Products

Transcripts for NR3C2 Gene

mRNA/cDNA for NR3C2 Gene

3 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

  • Addgene plasmids for NR3C2

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

No ASD Table

Relevant External Links for NR3C2 Gene

GeneLoc Exon Structure for
NR3C2

Expression for NR3C2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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 and MOPED for NR3C2 Gene



Protein tissue co-expression partners for NR3C2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NR3C2

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.

Evidence on tissue expression from TISSUES for NR3C2 Gene

  • Kidney(4.6)
  • Blood(4.5)
  • Heart(4.5)
  • Adrenal gland(3.1)
  • Nervous system(2.9)
  • Muscle(2.5)
  • Intestine(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for NR3C2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • nervous
  • respiratory
  • skeletal muscle
  • urinary
Regions:
Head and neck:
  • brain
  • ear
  • eye
  • head
Thorax:
  • esophagus
  • heart
  • heart valve
  • lung
Abdomen:
  • adrenal gland
  • intestine
  • kidney
  • large intestine
  • small intestine
  • stomach
General:
  • blood
  • blood vessel
  • coagulation system
  • red blood cell
genes like me logo Genes that share expression patterns with NR3C2: view

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
chimpanzee
(Pan troglodytes)
Mammalia NR3C2 31 30
  • 99.7 (n)
OneToOne
dog
(Canis familiaris)
Mammalia NR3C2 31 30
  • 92.29 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia NR3C2 31
  • 90 (a)
OneToOne
cow
(Bos Taurus)
Mammalia NR3C2 31 30
  • 88.12 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NR3C2 31
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Nr3c2 17 31 30
  • 86.5 (n)
rat
(Rattus norvegicus)
Mammalia Nr3c2 30
  • 86.19 (n)
chicken
(Gallus gallus)
Aves NR3C2 31 30
  • 77.97 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NR3C2 31
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nr3c2 30
  • 70.9 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.970 30
zebrafish
(Danio rerio)
Actinopterygii nr3c2 31 30
  • 58.54 (n)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.11644 30
Species where no ortholog for NR3C2 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for NR3C2: view image

Paralogs for NR3C2 Gene

Paralogs for NR3C2 Gene

(52) SIMAP similar genes for NR3C2 Gene using alignment to 5 proteins:

  • MCR_HUMAN
  • B0ZBF6_HUMAN
  • B0ZBF7_HUMAN
  • B0ZBF8_HUMAN
  • Q4W5E8_HUMAN
genes like me logo Genes that share paralogs with NR3C2: view

Variants for NR3C2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NR3C2 Gene

SNP ID Clinical significance and condition Chr 04 pos Variation AA Info Type
710955 Benign: not provided 148,436,094(-) T/C MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
727519 Likely Benign: not provided 148,435,316(-) C/T NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
732756 Likely Benign: not provided 148,435,136(-) C/T NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
733499 Likely Benign: not provided 148,152,552(-) T/C SYNONYMOUS_VARIANT
734599 Likely Benign: not provided 148,436,771(-) G/A NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for NR3C2 Gene

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

Variant ID Type Subtype PubMed ID
dgv9307n54 CNV loss 21841781
dgv9308n54 CNV loss 21841781
dgv9309n54 CNV loss 21841781
dgv9310n54 CNV loss 21841781
esv1084601 CNV insertion 17803354
esv2197125 CNV deletion 18987734
esv25663 CNV loss 19812545
esv2666114 CNV deletion 23128226
esv2728509 CNV deletion 23290073
esv2728510 CNV deletion 23290073
esv3302506 CNV tandem duplication 20981092
esv3365689 CNV duplication 20981092
esv3385386 CNV insertion 20981092
esv3564767 CNV deletion 23714750
esv3569746 CNV loss 25503493
esv3584816 CNV loss 24956385
esv3602613 CNV loss 21293372
esv3602614 CNV loss 21293372
esv3602615 CNV loss 21293372
esv3602616 CNV loss 21293372
esv3602619 CNV loss 21293372
esv3602620 CNV loss 21293372
nsv1016966 CNV gain 25217958
nsv1031815 CNV loss 25217958
nsv1109645 CNV deletion 24896259
nsv1114577 CNV deletion 24896259
nsv1119521 CNV insertion 24896259
nsv1129735 CNV tandem duplication 24896259
nsv1142406 CNV tandem duplication 24896259
nsv1143107 CNV tandem duplication 24896259
nsv293429 CNV deletion 16902084
nsv4541 CNV insertion 18451855
nsv527076 CNV loss 19592680
nsv595663 CNV loss 21841781
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)

Additional Variant Information for NR3C2 Gene

Human Gene Mutation Database (HGMD)
NR3C2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NR3C2

SNP Genotyping and Copy Number Assay Products

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

Disorders for NR3C2 Gene

MalaCards: The human disease database

(54) MalaCards diseases for NR3C2 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- 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
  • 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:11134129, ECO:0000269 PubMed:12788847, ECO:0000269 PubMed:16954160, 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, ECO:0000269 PubMed:15908963, ECO:0000269 PubMed:15967794}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for NR3C2

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

No data available for Genatlas for NR3C2 Gene

Publications for NR3C2 Gene

  1. Association of aldosterone concentration and mineralocorticoid receptor genotype with potassium response to spironolactone in patients with heart failure. (PMID: 20030467) Cavallari LH … Stamos TD (Pharmacotherapy 2010) 3 23 41 54
  2. Functional mineralocorticoid receptor (MR) gene variation influences the cortisol awakening response after dexamethasone. (PMID: 19665310) van Leeuwen N … Wüst S (Psychoneuroendocrinology 2010) 3 23 41 54
  3. Functional characterization of naturally occurring NR3C2 gene mutations in Italian patients suffering from pseudohypoaldosteronism type 1. (PMID: 17287415) Balsamo A … Riepe FG (European journal of endocrinology 2007) 3 23 41 54
  4. Elucidating the underlying molecular pathogenesis of NR3C2 mutants causing autosomal dominant pseudohypoaldosteronism type 1. (PMID: 16954160) Riepe FG … Krone N (The Journal of clinical endocrinology and metabolism 2006) 3 4 23 54
  5. Structural and biochemical mechanisms for the specificity of hormone binding and coactivator assembly by mineralocorticoid receptor. (PMID: 16061183) Li Y … Xu HE (Molecular cell 2005) 3 4 23 54

Products for NR3C2 Gene

  • Addgene plasmids for NR3C2
  • Signalway ELISA kits for NR3C2
  • Signalway Proteins for NR3C2

Sources for NR3C2 Gene