Seroatlas · Human Serome Atlas

NR3C2

Mineralocorticoid receptor

Also known as: MCR_HUMAN, MLR, MR

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: P08235
Gene: NR3C2
Ensembl: ENSG00000151623
Chromosome: 4
Canonical length: 984 aa
Protein class: Disease related genes, FDA approved drug targets, Human disease related genes, Nuclear receptors, Predicted intracellular proteins, Transcription factors
Subcellular location: Nucleoplasm
Quaternary structure: Homodimer

OverviewNCBI 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]

Canonical amino-acid sequenceUniProt

984 residues, UniProt reviewed canonical sequence.

>P08235|NR3C2
     1  METKGYHSLP EGLDMERRWG QVSQAVERSS LGPTERTDEN NYMEIVNVSC VSGAIPNNST
    61  QGSSKEKQEL LPCLQQDNNR PGILTSDIKT ELESKELSAT VAESMGLYMD SVRDADYSYE
   121  QQNQQGSMSP AKIYQNVEQL VKFYKGNGHR PSTLSCVNTP LRSFMSDSGS SVNGGVMRAV
   181  VKSPIMCHEK SPSVCSPLNM TSSVCSPAGI NSVSSTTASF GSFPVHSPIT QGTPLTCSPN
   241  VENRGSRSHS PAHASNVGSP LSSPLSSMKS SISSPPSHCS VKSPVSSPNN VTLRSSVSSP
   301  ANINNSRCSV SSPSNTNNRS TLSSPAASTV GSICSPVNNA FSYTASGTSA GSSTLRDVVP
   361  SPDTQEKGAQ EVPFPKTEEV ESAISNGVTG QLNIVQYIKP EPDGAFSSSC LGGNSKINSD
   421  SSFSVPIKQE STKHSCSGTS FKGNPTVNPF PFMDGSYFSF MDDKDYYSLS GILGPPVPGF
   481  DGNCEGSGFP VGIKQEPDDG SYYPEASIPS SAIVGVNSGG QSFHYRIGAQ GTISLSRSAR
   541  DQSFQHLSSF PPVNTLVESW KSHGDLSSRR SDGYPVLEYI PENVSSSTLR SVSTGSSRPS
   601  KICLVCGDEA SGCHYGVVTC GSCKVFFKRA VEGQHNYLCA GRNDCIIDKI RRKNCPACRL
   661  QKCLQAGMNL GARKSKKLGK LKGIHEEQPQ QQQPPPPPPP PQSPEEGTTY IAPAKEPSVN
   721  TALVPQLSTI SRALTPSPVM VLENIEPEIV YAGYDSSKPD TAENLLSTLN RLAGKQMIQV
   781  VKWAKVLPGF KNLPLEDQIT LIQYSWMCLS SFALSWRSYK HTNSQFLYFA PDLVFNEEKM
   841  HQSAMYELCQ GMHQISLQFV RLQLTFEEYT IMKVLLLLST IPKDGLKSQA AFEEMRTNYI
   901  KELRKMVTKC PNNSGQSWQR FYQLTKLLDS MHDLVSDLLE FCFYTFRESH ALKVEFPAML
   961  VEIISDQLPK VESGNAKPLY FHRK

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against NR3C2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Other membrane
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.56
Highest tissue expression: 25 nTPM

Expression across tissuesHPA

Tissue

rectum: 25 nTPM
colon: 20 nTPM
thyroid gland: 18 nTPM
small intestine: 14 nTPM
tongue: 13 nTPM
parathyroid gland: 12 nTPM

Single-cell type

renal connecting tubule cells: 1,491 nCPM
distal convoluted tubule cells: 1,221 nCPM
somatotrophs: 1,145 nCPM
renal collecting duct intercalated cells: 1,124 nCPM
goblet cells: 858 nCPM
choroid plexus epithelial cells: 810 nCPM

Immune cell

MAIT T-cell: 1.8 nTPM
naive CD8 T-cell: 1.1 nTPM
naive CD4 T-cell: 1 nTPM
memory CD4 T-cell: 0.7 nTPM
gdT-cell: 0.5 nTPM
memory CD8 T-cell: 0.4 nTPM

Brain region

hippocampal formation: 38 nTPM
cerebral cortex: 33 nTPM
cerebellum: 28 nTPM
thalamus: 22 nTPM
midbrain: 21 nTPM
basal ganglia: 20 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about NR3C2.

Disease | AllUniProt

Conditions NR3C2 is implicated in, by any mechanism.

Pseudohypoaldosteronism 1, autosomal dominant (PHA1A) MIM:177735
Early-onset hypertension with severe exacerbation in pregnancy (EOHSEP) MIM:605115

Disease | GeneticClinVar

53 pathogenic / likely-pathogenic of 463 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Autosomal dominant pseudohypoaldosteronism type 1
NR3C2-related disorder
Renal tubulopathies
Pseudohyperaldosteronism type 2
Inborn genetic diseases

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.35
gnomAD pLI: 0.84
gnomAD missense Z: 2.1
DepMap mean gene effect: 0.05
DepMap dependency class: none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of NR3C2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads NR3C2 as an antibody target. Whether an autoantibody or antibody against NR3C2 could matter depends on whether native NR3C2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

NR3C2 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label NR3C2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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