DIO2

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DIO2
Identifiers
AliasesDIO2, 5DII, D2, DIOII, SelY, TXDI2, deiodinase, iodothyronine, type II, iodothyronine deiodinase 2
External IDsMGI: 1338833 HomoloGene: 621 GeneCards: DIO2
Gene location (Human)
Chromosome 14 (human)
Chr.Chromosome 14 (human)[1]
Chromosome 14 (human)
Genomic location for DIO2
Genomic location for DIO2
Band14q31.1Start80,197,527 bp[1]
End80,387,757 bp[1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_010050

RefSeq (protein)

NP_034180

Location (UCSC)Chr 14: 80.2 – 80.39 MbChr 12: 90.72 – 90.74 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Type II iodothyronine deiodinase (iodothyronine 5'-deiodinase, iodothyronine 5'-monodeiodinase) is an enzyme that in humans is encoded by the DIO2 gene.[5][6][7]

Function[edit]

The protein encoded by this gene belongs to the iodothyronine deiodinase family. It activates thyroid hormone by converting the prohormone thyroxine (T4) by outer ring deiodination (ORD) to bioactive 3,3',5-triiodothyronine (T3). It is highly expressed in the thyroid, and may contribute significantly to the relative increase in thyroidal T3 production in patients with Graves' disease and thyroid adenomas. This protein contains selenocysteine (Sec) residues encoded by the UGA codon, which normally signals translation termination. The 3' UTR of Sec-containing genes have a common stem-loop structure, the Sec insertion sequence (SECIS), which is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. Alternative splicing results in multiple transcript variants encoding different isoforms.[7]

Interactions[edit]

DIO2 has been shown to interact with USP33.[8]

See also[edit]

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000211448 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000007682 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:".
  4. ^ "Mouse PubMed Reference:".
  5. ^ Croteau W, Davey JC, Galton VA, St Germain DL (Sep 1996). "Cloning of the mammalian type II iodothyronine deiodinase. A selenoprotein differentially expressed and regulated in human and rat brain and other tissues". J Clin Invest. 98 (2): 405–417. doi:10.1172/JCI118806. PMC 507444. PMID 8755651.
  6. ^ Araki O, Murakami M, Morimura T, Kamiya Y, Hosoi Y, Kato Y, Mori M (Jun 1999). "Assignment of type II iodothyronine deiodinase gene (DIO2) to human chromosome band 14q24.2→q24.3 by in situ hybridization". Cytogenet Cell Genet. 84 (1–2): 73–74. doi:10.1159/000015218. PMID 10343107.
  7. ^ a b "Entrez Gene: DIO2 deiodinase, iodothyronine, type II".
  8. ^ Curcio-Morelli C, Zavacki AM, Christofollete M, Gereben B, de Freitas BC, Harney JW, Li Z, Wu G, Bianco AC (July 2003). "Deubiquitination of type 2 iodothyronine deiodinase by von Hippel-Lindau protein-interacting deubiquitinating enzymes regulates thyroid hormone activation". J. Clin. Invest. 112 (2): 189–96. doi:10.1172/JCI18348. PMC 164294. PMID 12865408.

Further reading[edit]