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FLASH GENE
Symbol DIO2 contributors: mct - updated : 17-07-2008
HGNC name deiodinase, iodothyronine, type II
HGNC id 2884
Location 14q24.3      Physical location : 80.663.869 - 80.678.525
Synonym name
  • thyroxine deiodinase type 2
  • selenoenzyme type 2, iodothynonine 5' deiodinase
  • Synonym symbol(s) TXDI2, HD2, SELY
    EC.number 3.8.1.4/ 1.97.1.10
    DNA
    TYPE like-sequence
    STRUCTURE 14.00 kb     2 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    text structure promoter with a functional cAMP response element CRE
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    3 splicing 6395 - 273 - Croteau, Meulenbelt (2008)
    2 splicing 6703 - 273 brain, heart, skeletal muscle, placenta, fetal brain Croteau, Meulenbelt (2008)
    - - 6520 - - brain, kidney, lung, trachea Ohba
    - - 6660 - - brain, kidney, lung, trachea Ohba
    3 - 6129 - 309 - Meulenbelt (2008)
    EXPRESSION
    Type widely
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Digestivepharynx   highly
    Endocrineneuroendocrinepituitary  highly
     thyroid   highly
    Nervousbrain    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialsecretoryglandularendocrine 
    Muscularstriatumcardiac  
    Muscularstriatumskeletal  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal, pregnancy
    Text placenta,fetal brain,cochlea before the onset of hearing
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    selenocysteine containing
    HOMOLOGY
    interspecies homolog to murine Dio2
    intraspecies homolog to DIO3
    Homologene
    FAMILY iodothyronine deiodinase family
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    basic FUNCTION
  • involved in the regulation of local T4 to T3 conversion
  • converts intracellular pro-hormone-3,3',5,5'-tetraiodothyronine (T4) into the active thyroid hormone 3,3',5-triiodothyronine (T3) thereby regulating intracellular levels of active T3 in target tissues such as the growth plate
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism hormone
    signaling hormonal
    thyroid hormone biosynthesis
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with SECISBP2
  • interacting with MARCH6 (Zavacki 2009) and ubiquitinated
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in mesothelioma
    tumoral     --low  
    in benign and malignant thyroid tumors
    Susceptibility
  • to mental retardation
  • to osteoarthritis
  • to hypertension
  • Variant & Polymorphism SNP
  • SNP increasing the risk of mental retardation
  • Ala92 increases risk for the development of hypertension
  • Candidate gene
    Marker
    Therapy target useful as potential targets for thyroid tumor treatment
    ANIMAL & CELL MODELS