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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
    Physical map
    FLJ21736 16q22.1 esterase 31 FLJ37464 16q22.1 hypothetical protein FLJ37464 CBFB 16q22.1 core-binding factor, beta subunit Lin10 16q22.1 lin-10 protein homolog MGC4655 16q22.1 hypothetical protein MGC4655 TRADD 16q22 TNFRSF1A-associated via death domain FBXL8 16q23.1 F-box and leucine-rich repeat protein 8 HSF4 16q21 heat shock transcription factor 4 NOL3 16qp21-q23 nucleolar protein 3 (apoptosis repressor with CARD domain) LOC283849 16q22.1 hypothetical protein LOC283849 E2F4 16q22.1 E2F transcription factor 4, p107/p130-binding ELMO3 16q23.1 engulfment and cell motility 3 (ced-12 homolog, C. elegans) FBXL9 16q23-q31 F-box and leucine-rich repeat protein 9 HSPC171 16q22.1 HSPC171 protein FHOD1 16q22 formin homology 2 domain containing 1 SLC9A5 16q22.1 solute carrier family 9 (sodium/hydrogen exchanger), isoform 5 DKFZP434I216 16q22.1 DKFZP434I216 protein FLJ40162 16q22.1 FLJ40162 protein FLJ11004 16q22.1 hypothetical protein FLJ11004 CGI-38 16q22.1 brain specific protein ZDHHC1 16q23.1 zinc finger, DHHC domain containing 1 HSD11B2 16q22 hydroxysteroid (11-beta) dehydrogenase 2 ATP6V0D1 16q22 ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d isoform 1 AGRP 16q22.1 agouti related protein homolog (mouse) FLJ13725 16q22.1 hypothetical protein FLJ13725 CTCF 16q22.1 CCCTC-binding factor (zinc finger protein) LOC146206 16q22.1 hypothetical protein LOC146206 24432 16q22.1 hypothetical protein 24432 PARD6A 16q22.1 par-6 partitioning defective 6 homolog alpha (C.elegans) DKFZP434A1319 16q22.1 hypothetical protein DKFZp434A1319 LOC388284 16 hypothetical gene supported by BC032064; BC041612 MGC11335 16q22.1 hypothetical protein MGC11335 TSNAXIP1 16q22.2 translin-associated factor X interacting protein 1 FLJ13111 16q22.1 hypothetical protein FLJ13111
    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