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FLASH GENE
Symbol NR3C2 contributors: mct - updated : 24-09-2013
HGNC name nuclear receptor subfamily 3, group C, member 2
HGNC id 7979
Corresponding disease
NR3C2 hypertension, early onset, with severe exacerbation in pregnancy
PHA1A2 pseudohypoaldosteronism, type 1
Location 4q31      Physical location : 148.999.915 - 149.363.672
Synonym name mineralocorticoid receptor
Synonym symbol(s) MLR
DNA
TYPE functioning gene
STRUCTURE 363.00 kb     9 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked   status confirmed
RNA
TRANSCRIPTS type messenger
EXPRESSION
Type widely
constitutive of
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveintestinelarge intestinecolon highly
Nervousbraindiencephalonhypothalamus  
Reproductivemale systemprostate  moderately
Respiratoryrespiratory tractlarynx  highly
urinarykidneynephrondistal convoluted tubule  
Visualeye   highly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Muscularstriatumskeletal  
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a N terminal modulator domain
  • a central bipartite zinc finger DNA binding domain
  • a nuclear localization signal (NLS)
  • a C terminal ligand binding domain, including a transactivation and dimerization domain
  • HOMOLOGY
    Homologene
    FAMILY
  • steroid/thyroid hormone receptor superfamily
  • nuclear recptor subfamily 3, group C
  • CATEGORY transcription factor , receptor nuclear
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus
    basic FUNCTION
  • mineralocorticoid nuclear receptor (aldosterone receptor)
  • activating gene transcription in response to aldosterone
  • CELLULAR PROCESS nucleotide, transcription, regulation
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other binding to aldosterone
    REGULATION
    activated by aldosterone
    progesterone and steroids lacking 21-hydroxyl groups (constitutively when mutated)
    ASSOCIATED DISORDERS
    corresponding disease(s) PHA1A2 , NR3C2
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS