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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
Physical map
LOC345041 4q31.21 similar to 60 kDa heat shock protein, mitochondrial precursor (Hsp60) (60 kDa chaperonin) (CPN60) (Heat shock protein 60) (HSP-60) (Mitochondrial matrix protein P1) (P60 lymphocyte protein) (HuCHA60) APC10 4q31 similar to 60 kDa heat shock protein, mitochondrial precursor (Hsp60) (60 kDa chaperonin) (CPN60) (Heat shock protein 60) (HSP-60) (Mitochondrial matrix protein P1) (P60 lymphocyte protein) (HuCHA60) ABCE1 4q31 ATP-binding cassette, sub-family E (OABP), member 1 HSHIN1 4q31.21 HIV-1 induced protein HIN-1 LOC389230 4 LOC389230 LOC152905 4q31.21 similar to Reticulon protein 3 (Neuroendocrine-specific protein-like 2) (NSP-like protein II) (NSPLII) FLJ13262 4q31.21 hypothetical protein FLJ13262 MADH1 4q28 MAD, mothers against decapentaplegic homolog 1 (Drosophila) DKFZP586M0622 LOC345045 4q31.21 similar to nuclear receptor coactivator 4; RET-activating gene ELE1 MMAA LOC152485 4q31.21 hypothetical protein LOC152485 LSM6 4q31.21 LSM6 homolog, U6 small nuclear RNA associated (S. cerevisiae) LOC345051 4q31.21 similar to MGC53273 protein DKFZP566M114 4q31.21 hypothetical protein DKFZp566M114 POU4F2 4q31.2 POU domain, class 4, transcription factor 2 NYD-SP14 4q31.21 NYD-SP14 protein EDNRA 4q31.21 endothelin receptor type A GTF2F2L 4q31 general transcription factor IIF, polypeptide 2-like FLJ10846 4q31.22 hypothetical protein FLJ10846 LOC90826 4q31.22 hypothetical protein BC004337 FLJ20896 4q31.22 hypothetical protein FLJ20896 NR3C2 4q31 nuclear receptor subfamily 3, group C, member 2 ASSP8 4q21-qter argininosuccinate synthetase pseudogene 8 LOC389231 4 LOC389231 LOC285423 4q31.22-q31.23 hypothetical gene supported by BC031092 MGC45428 4q31.23 hypothetical protein MGC45428 LRBA 4q31.22-q31.23 LPS-responsive vesicle trafficking, beach and anchor containing MAB21L2 4q31 mab-21-like 2 (C. elegans) LOC283341 4q31.23 similar to Adenylate kinase isoenzyme 4, mitochondrial (ATP-AMP transphosphorylase) RPS3A 4q31.2-q31.3 ribosomal protein S3A U73B 4q31.2-q31.3 RNA, U73B small nucleolar DKFZp434D0215 4q31.23 SH3 domain protein D19 LOC391704 4 similar to Prss32 protein ESSPL 4q31.23 epidermis-specific serine protease-like protein
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