Aliases for DIO2 Gene
External Ids for DIO2 Gene
Previous GeneCards Identifiers for DIO2 Gene
The protein encoded by this gene belongs to the iodothyronine deiodinase family. It catalyzes the conversion of prohormone thyroxine (3,5,3',5'-tetraiodothyronine, T4) to the bioactive thyroid hormone (3,5,3'-triiodothyronine, T3) by outer ring 5'-deiodination. This gene is widely expressed, including in thyroid, placenta, pituitary and brain. It is thought to be responsible for the 'local' production of T3, and thus important in influencing thyroid hormone action in these tissues. It has also been reported to be highly expressed in thyroids of patients with Graves disease, and in follicular adenomas. The intrathyroidal T4 to T3 conversion by this enzyme may contribute significantly to the relative increase in thyroidal T3 production in these patients. This protein is a selenoprotein containing the rare selenocysteine (Sec) amino acid at its active site, and may contain additional Sec residues. Sec is encoded by the UGA codon, which normally signals translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon, rather than as a stop signal. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, May 2016]
GeneCards Summary for DIO2 Gene
DIO2 (Iodothyronine Deiodinase 2) is a Protein Coding gene. Diseases associated with DIO2 include Graves' Disease and Euthyroid Sick Syndrome. Among its related pathways are Metabolism and Thyroid hormone signaling pathway. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and antioxidant activity. An important paralog of this gene is DIO3.
UniProtKB/Swiss-Prot for DIO2 Gene
Responsible for the deiodination of T4 (3,5,3,5-tetraiodothyronine) into T3 (3,5,3-triiodothyronine). Essential for providing the brain with appropriate levels of T3 during the critical period of development.