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FLASH GENE
Symbol HSD11B2 contributors: mct/npt - updated : 17-03-2009
HGNC name hydroxysteroid (11-beta) dehydrogenase 2
HGNC id 5209
Corresponding disease
HSD11B2D cortisol 11-beta-ketoreductase deficiency
Location 16q22.1      Physical location : 67.465.035 - 67.471.452
Synonym name
  • short chain dehydrogenase/reductase family 9C, member 3
  • NAD-dependent 11-beta-hydroxysteroid dehydrogenase
    • Synonym symbol(s) HSD11K, DHI2, AME, AME1, 11-beta-HSD2, 11-DH2, HSD2, SDR9C3
    EC.number 1.1.1.146
    DNA
    TYPE functioning gene
    STRUCTURE 6.42 kb     5 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence cytosine-phosphate-guanine/HTF
    motif repetitive sequence
    text structure CA repeat in the first intron
    MAPPING cloned Y linked N status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    5 - 1939 44 405 - Gong (2008)
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Urinarykidneytubulecollecting duct  
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Urinaryepithelial cell
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal, pregnancy
    Text adrenal gland, kidney, placenta
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a nucleotide binding domain
  • a catalytic domain
  • cluster of amino acids (335 to 339) in the C-terminus essential for protein stability (Atanasov 2007)
    • HOMOLOGY
    interspecies homolog to murine Hsd11b2
    Homologene
    FAMILY
  • short-chain dehydrogenase/reductase (SDR) family
    • CATEGORY enzyme , signaling
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic,microsome
    basic FUNCTION
  • hydroxysteroid dehydrogenase 11-beta 2, NAD dependent
  • interconversion of cortisol and cortisone
  • involved in the protection of mineralocorticoid receptor
  • functioning as a dehydrogenaseand enhancing glucocorticoids(GCs) deactivation (activity correlated with lower vascular resistance) (Gong 2008)
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism carbohydrate , hormone
    signaling
    glucocorticoid biosynthesis
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) HSD11B2D
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --other  
    aberrantly expressed in adrenal cortical carcinoma and adenoma
    Susceptibility to sodium handling and to response to thiazide diuretics
    Variant & Polymorphism other polymorphisms modifying sodium handling and response to thiazide diuretics
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS