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FLASH GENE
Symbol CYP21A2 contributors: mct - updated : 26-05-2015
HGNC name cytochrome P450, family 21, subfamily A, polypeptide 2
HGNC id 2600
Corresponding disease
CYP21A2 adrenal hyperplasia III, female pseudohermaphroditism
Location 6p21.3      Physical location : 3.258.930 - 32.009.419
Synonym name
  • steroid 21-hydroxylase
  • steroid 21-monooxygenase
  • cytochrome P450, subfamily XXIA (steroid 21-hydroxylase, congenital adrenal hyperplasia), polypeptide 2
  • Synonym symbol(s) 21-OH, CYP21B, S21OH, CYP21, p450C21, CA21H, CPS1, CAH1
    EC.number 1.14.99.10
    DNA
    TYPE functioning gene
    STRUCTURE 3.35 kb     10 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    Binding site   HRE
    text structure
  • vitamin D response element in the CYP21A2 promoter
  • MAPPING cloned Y linked N status confirmed
    Map pter - BF - C4A C4A - CYP21A1P - C4B C4B - CYP21A2 CYP21A2 - cen
    regionally located nested in the YB sequence, in the same orientation
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    10 - 2131 - 495 - 2000 10798363
    9 - 2041 - 465 - 2000 10798363
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheartatrium   
     vesselsaorta   
    Endocrineadrenal gland    
     adrenal glandcortexzona glomerula  
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connective    
    Epithelialsecretoryglandularendocrine 
    Nervousperipherous   
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period pregnancy
    Text placenta
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    secondary structure
  • exhibits the characteristic triangular prism shape, containing 16 helices and 9 beta-sheets
  • conjugated HemoP
    mono polymer monomer
    HOMOLOGY
    Homologene
    FAMILY
  • cytochrome P450 subfamily XXIA
  • multigenic cytochrome P450 superfamily of mixed-function monooxygenases
  • CATEGORY enzyme , transport
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,cytosolic,microsome
    basic FUNCTION
  • catalyzing the oxidative conversion of delta(5)-ene-3-beta-hydroxy steroid, and the oxidative conversion of ketosteroids
  • its activities, which are required for cortisol and aldosterone biosynthesis, involve the formation of energetically disfavored primary carbon radical
  • CYP17A1 and CYP21A2 are required for the biosynthesis of androgens, glucocorticoids, and mineralocorticoids
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS electron transport , detoxification
    text oxidative metabolism
    PATHWAY
    metabolism drug , hormone
    signaling
  • adrenocortical steroid biosynthesis including cortis and aldosterone
  • a component
    INTERACTION
    DNA
    RNA
    small molecule cofactor, nucleotide,
    NADPH, heme
    protein flavoprotein P450 oxidoreductase (POR)
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CYP21A2
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS