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FLASH GENE
Symbol DIO2 contributors: mct - updated : 17-07-2008
HGNC name deiodinase, iodothyronine, type II
HGNC id 2884
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