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FLASH GENE
Symbol DUOXA2 contributors: mct/npt - updated : 01-04-2020
HGNC name dual oxidase maturation factor 2
HGNC id 32698
Corresponding disease
HTDI2 congenital hypothyroidism with defects in iodide organification 2
Location 15q21.1      Physical location : 45.406.522 - 45.410.299
Synonym name dual oxidase activator 2
Synonym symbol(s) LOC405753, SIMNIPHOM, TDH5
DNA
TYPE functioning gene
SPECIAL FEATURE head to head
text head to head to DUOX2 in the 16-kbp DUOX1/DUOX2 intergenic region
STRUCTURE 4.10 kb     5 Exon(s)
regulatory sequence Promoter
text structure
  • genomic region between the translation start sites of DUOX2 and DUOXA2 functions as a bidirectional promoter in human airway tissue
    • MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    5 - 1755 35 320 - 2015 25761904
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivesalivary gland   lowly
    Endocrinethyroid   predominantly
    Respiratoryrespiratory tract     Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Respiratoryepithelial cell Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • an external N terminal domain
  • a Kozak consensus domain
  • five membrane integral region
  • three NX (S/T) consensus site for N glycosylation clustered within an external connecting the second and third transmembrane helices
    • conjugated GlycoP
    HOMOLOGY
    interspecies homolog to Drosophila numb
    Homologene
    FAMILY
  • NADPH oxydase family, (NOX) family
  • DUOXA family
    • CATEGORY chaperone/stress
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,cytosolic
    text ER-resident transmembrane protein
    basic FUNCTION
  • allowing ER-to-Golgi transition, maturation, and translocation to the plasma membrane of functional DUOX2 in a heterologous system
  • playing an important role in thyroid hormonogenesis
  • both DUOX2 and DUOXA2 expression are involved specifically in inflammation and are regulated on a crypt-by-crypt basis in ulcerative colitis tissue
  • essential role of DUOXA2 in thyroid hormone synthesi
  • both stability and function of the maturation factor, DUOXA2, are dependent on the oxidative folding of DUOX2, indicating that DUOX2 displays a chaperone-like function with respect to its partner
  • both DUOX enzymes (DUOX1, DUOX2) and their respective maturation factors DUOXA1 and DUOXA2 form a stable complex at the cell surface, which is fundamental for their enzymatic activity
  • H2O2 produced by the DUOX2/DUOXA2 cell surface enzymatic complex could provoke potential mutagenic DNA damage in an inducible cellular model
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • DUOX2
  • thyroid hydrogen peroxide production is enhanced by the Th2 cytokines, IL4 and IL13, through increased expression of the DUOX2 and its maturation factor DUOXA2
  • the maturation and activity of DUOX2 were drastically impaired when expressed with the glycosylation-defective maturation factor DUOXA2
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) HTDI2
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS