Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

DIO2 (deiodinase, iodothyronine, type II)

Written2010-06Ana Luiza Maia, Simone Magagnin Wajner, Leonardo B Leiria
Thyroid Section, Endocrine Division, Hospital de Clinicas de Porto Alegre (HCPA), Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil

(Note : for Links provided by Atlas : click)

Identity

Alias_symbol (synonym)TXDI2
SelY
Other alias5DII
D2
HGNC (Hugo) DIO2
LocusID (NCBI) 1734
Atlas_Id 44390
Location 14q31.1  [Link to chromosome band 14q31]
Location_base_pair Starts at 80663868 and ends at 80697397 bp from pter ( according to hg19-Feb_2009)  [Mapping DIO2.png]

DNA/RNA

 
  Organization of the Dio2 gene: Yellow bars represent the coding region (exon) and red bars, the untranslated region.
Description The Dio2 gene is composed of 3 exons comprising 14656 bp of the genomic DNA.
Transcription The length of transcribed mRNA is about 6,8 kb and generates three variants of mRNA. Transcript variant 1 represents the longest transcript and encodes isoform a. Transcript variant 2 differs in the 5'UTR when compared to variant 1. Both variants 1 and 2 encode isoform a. Transcript variant 3 includes an alternate in-frame exon in the coding region, compared to variant 1. Variant 3 encodes isoform b, which is longer than isoform a.
Pseudogene No pseudogene have been described.

Protein

 
  Schematic representation of D2 peptide structure (not on scale). Isoform a (273 aa) and Isoform b (309 aa). In deep green transmembran domain (position 10-34). In yellow active site (position 133). In deep blue alternative sequence isoform b (position 74).
Description The protein encoded by this gene belongs to the iodothyronine deiodinase family. This enzyme activates thyroid hormone by converting the prohormone thyroxine (T4) by outer ring deiodination 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 often signals the end of process of translation. 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 a stop signal. Alternative splicing results in multiple transcript variants encoding different isoforms. Ubiquitination can also regulate proteins by transiently inactivating enzymatic function through conformational change in a dimeric enzyme, which can be reversed upon deubiquitination (post-translational).
Expression Ohba et al. (2001) identified 2 alternatively spliced DIO2 transcripts that include intronic sequences between the 2 invariant DIO2 exons. These splice variants showed tissue-specific expression in brain, thyroid, liver, thymus, anterior pituitary gland and brown adipose tissue. In mesothelioma cell lysates, Curcio et al. (2001) determined that endogenous DIO2 gene had an apparent molecular mass of 31 kD. In normal tissues, D2 activity/mRNA ratio is variable, but the enzyme is expressed in rodents in the developing and adult testis, heart, muscle, thyroid, BAT, brain, pituitary, thymus, skin, spinal cord, placenta, liver and pancreas. In humans D2 is expressed in brain, BAT, heart, thyroid, muscle, placenta, skin and vascular smooth muscle cells.
Localisation Immuno location of the protein in cells showed D2 as an endoplasmic reticulum resident protein.
Function Type 2 deiodinase 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.
Thermogenesis
The expression of D2 is increased in response to cold stimulation in brown adipocytes isolated from mice. Dio2 activation in the brown adipose tissue (BAT) of human newborns and rodents is known to play a role in adaptive energy expenditure during cold exposure.
Development
D2 activity is present in human placenta through all pregnancy, and is highly expressed during the first trimester. The level of activity is low in the non-pregnant uterus, but in pregnancy the level rises progressively to a maximum at gestation day 17 when it is increased threefold.
Homology Several homologues of Dio2 have been identified in Pan troglodytes and Macaca mulatta (100%). The chicken and mouse have similar domain structures with human Dio2 (97%). Human Dio2 homology with D3 is expressed in Sus scrofia, Equus caballus, Cricetus cricetus, Oryctolagus cuniculus, Pituophis deppei (92% similarity) and limited domains with human D3 and D1.

Mutations

Note No germinal or somatic mutations has been described. However, the polymorphism Thr92Ala in Dio2 gene is associated with increased risk of mental retardation, insulin resistance in type 2 diabetic patients, reduced glucose availability in obese women, symptomatic osteoarthritis, Graves' disease and arterial hypertension.

Implicated in

Note
  
Entity Various cancers
Note Although not completely understood, Dio2 gene expression and activity is altered in some tumors. It is under-expressed in papillary thyroid carcinomas (PTC). In follicular tumors, D2 activity is similar or elevated when compared to non tumoral tissues, and augmented in follicular adenomas. D2 is also highly expressed in medullar thyroid carcinoma. A higher expression of the Dio2 gene was also described in gliosarcoma, oligoastrocytoma, glioblastoma, oligodendroglioma and pituitary tumors. In contrast, meningioma does not express D2 activity. These differences might be related to the embrionary tumor origin. Mesothelioma expresses higher activity of D2, whereas osteosarcoma has diminished D2 activity.
  
  
Entity Insulin resistance
Note Dio2 polymorphism Thr92Ala interacts with a polymorphism in PPAR gamma 2 gene and is associated with insulin resistance in diabetic patients. This Dio2 polymorphism is associated with a ~20% lower rate of glucose disposal in obese women than in non-obese women. Although the association between those two genes occurs in patients with insulin resistance, these results are contradictory in non diabetic population.
  
  
Entity Hypothyroidism
Note Disruption in mouse Dio2 gene is associated with alterations in T4/T3 balance with elevated TSH levels, which demonstrates that the Dio2 gene is of critical importance in the feedback regulation of TSH secretion.
  
  
Entity Graves' disease
Note It is suggested that the Thr92Ala variant of the Dio2 gene is associated or might be in linkage disequilibrium with a functional DIO2 polymorphism which involves the development of Graves' disease in a Russian population.
  
  
Entity Mental retardation
Note A case control study in Chinese patients demonstrated that two allelic intronic SNPs (rs225010 (T/C) and rs225012 (A/G)) in the DIO2 gene could affect the amount of T3 available and in an iodine-deficient environment and partially determine on augmented risk of mental retardation. They found a positive association with mental retardation and the two intronic Dio2 polymorphisms but not with Dio2 Thr92Ala alone and concluded that the genetic variation in Dio2 determine the risk of development of mental retardation that could be due to alterations in the local amount of T3 available in the brain.
  
  
Entity Bone metabolism
Note Dio2 is expressed in human and mouse osteoblast cells. In patients with differentiated thyroid carcinoma, the Dio2 Thr92Ala polymorphism is associated with a decreased femoral neck bone mineral density and higher bone turnover independent of serum thyroid hormone levels.
  
  
Entity Cardiomyopathy and arterial hypertension
Note Dio2 gene expression is also markedly up-regulated in hearts of mice that develops hypothyroidism or eccentric hypertrophy after myocardial infarction. The Dio2 polymorphism Thr92Ala is also associated with increased risk for the development of hypertension.
  

Bibliography

Assignment of type II iodothyronine deiodinase gene (DIO2) to human chromosome band 14q24.2-->q24.3 by in situ hybridization.
Araki O, Murakami M, Morimura T, Kamiya Y, Hosoi Y, Kato Y, Mori M.
Cytogenet Cell Genet. 1999;84(1-2):73-4.
PMID 10343107
 
Gene expression profiles reveal that DCN, DIO1, and DIO2 are underexpressed in benign and malignant thyroid tumors.
Arnaldi LA, Borra RC, Maciel RM, Cerutti JM.
Thyroid. 2005 Mar;15(3):210-21.
PMID 15785240
 
Characterization of the 5'-flanking and 5'-untranslated regions of the cyclic adenosine 3',5'-monophosphate-responsive human type 2 iodothyronine deiodinase gene.
Bartha T, Kim SW, Salvatore D, Gereben B, Tu HM, Harney JW, Rudas P, Larsen PR.
Endocrinology. 2000 Jan;141(1):229-37.
PMID 10614643
 
Adaptive activation of thyroid hormone and energy expenditure.
Bianco AC, Maia AL, da Silva WS, Christoffolete MA.
Biosci Rep. 2005 Jun-Aug;25(3-4):191-208. (REVIEW)
PMID 16283553
 
The 3'-untranslated region of human type 2 iodothyronine deiodinase mRNA contains a functional selenocysteine insertion sequence element.
Buettner C, Harney JW, Larsen PR.
J Biol Chem. 1998 Dec 11;273(50):33374-8.
PMID 9837913
 
Type 2 iodothyronine deiodinase expression in the cochlea before the onset of hearing.
Campos-Barros A, Amma LL, Faris JS, Shailam R, Kelley MW, Forrest D.
Proc Natl Acad Sci U S A. 2000 Feb 1;97(3):1287-92.
PMID 10655523
 
The type 2 deiodinase A/G (Thr92Ala) polymorphism is associated with decreased enzyme velocity and increased insulin resistance in patients with type 2 diabetes mellitus.
Canani LH, Capp C, Dora JM, Meyer EL, Wagner MS, Harney JW, Larsen PR, Gross JL, Bianco AC, Maia AL.
J Clin Endocrinol Metab. 2005 Jun;90(6):3472-8. Epub 2005 Mar 29.
PMID 15797963
 
Type 2 deiodinase Thr92Ala polymorphism is not associated with arterial hypertension in type 2 diabetes mellitus patients.
Canani LH, Leie MA, Machado WE, Capp C, Maia AL.
Hypertension. 2007 Jun;49(6):e47; author reply e48. Epub 2007 Mar 26.
PMID 17389255
 
Genomic characterization of the coding region of the human type II 5'-deiodinase gene.
Celi FS, Canettieri G, Yarnall DP, Burns DK, Andreoli M, Shuldiner AR, Centanni M.
Mol Cell Endocrinol. 1998 Jun 25;141(1-2):49-52.
PMID 9723885
 
Screening of SNPs at 18 positional candidate genes, located within the GD-1 locus on chromosome 14q23-q32, for susceptibility to Graves' disease: a TDT study.
Chistiakov DA, Savost'anov KV, Turakulov RI.
Mol Genet Metab. 2004 Nov;83(3):264-70.
PMID 15542398
 
Cloning of the mammalian type II iodothyronine deiodinase. A selenoprotein differentially expressed and regulated in human and rat brain and other tissues.
Croteau W, Davey JC, Galton VA, St Germain DL.
J Clin Invest. 1996 Jul 15;98(2):405-17.
PMID 8755651
 
The human type 2 iodothyronine deiodinase is a selenoprotein highly expressed in a mesothelioma cell line.
Curcio C, Baqui MM, Salvatore D, Rihn BH, Mohr S, Harney JW, Larsen PR, Bianco AC.
J Biol Chem. 2001 Aug 10;276(32):30183-7. Epub 2001 Jun 25.
PMID 11425850
 
Deubiquitination of type 2 iodothyronine deiodinase by von Hippel-Lindau protein-interacting deubiquitinating enzymes regulates thyroid hormone activation.
Curcio-Morelli C, Zavacki AM, Christofollete M, Gereben B, de Freitas BC, Harney JW, Li Z, Wu G, Bianco AC.
J Clin Invest. 2003 Jul;112(2):189-96.
PMID 12865408
 
Interaction of DIO2 T92A and PPARgamma2 P12A polymorphisms in the modulation of metabolic syndrome.
Fiorito M, Torrente I, De Cosmo S, Guida V, Colosimo A, Prudente S, Flex E, Menghini R, Miccoli R, Penno G, Pellegrini F, Tassi V, Federici M, Trischitta V, Dallapiccola B.
Obesity (Silver Spring). 2007 Dec;15(12):2889-95.
PMID 18198294
 
The roles of the iodothyronine deiodinases in mammalian development.
Galton VA.
Thyroid. 2005 Aug;15(8):823-34. (REVIEW)
PMID 16131325
 
Cellular and molecular basis of deiodinase-regulated thyroid hormone signaling.
Gereben B, Zavacki AM, Ribich S, Kim BW, Huang SA, Simonides WS, Zeold A, Bianco AC.
Endocr Rev. 2008 Dec;29(7):898-938. Epub 2008 Sep 24. (REVIEW)
PMID 18815314
 
Type 2 iodothyronine selenodeiodinase is expressed throughout the mouse skeleton and in the MC3T3-E1 mouse osteoblastic cell line during differentiation.
Gouveia CH, Christoffolete MA, Zaitune CR, Dora JM, Harney JW, Maia AL, Bianco AC.
Endocrinology. 2005 Jan;146(1):195-200. Epub 2004 Oct 7.
PMID 15471965
 
Ala92 type 2 deiodinase allele increases risk for the development of hypertension.
Gumieniak O, Perlstein TS, Williams JS, Hopkins PN, Brown NJ, Raby BA, Williams GH.
Hypertension. 2007 Mar;49(3):461-6. Epub 2007 Jan 15.
PMID 17224473
 
Positive association of the DIO2 (deiodinase type 2) gene with mental retardation in the iodine-deficient areas of China.
Guo TW, Zhang FC, Yang MS, Gao XC, Bian L, Duan SW, Zheng ZJ, Gao JJ, Wang H, Li RL, Feng GY, St Clair D, He L.
J Med Genet. 2004 Aug;41(8):585-90.
PMID 15286152
 
The type 2 deiodinase Thr92Ala polymorphism is associated with increased bone turnover and decreased femoral neck bone mineral density.
Heemstra KA, Hoftijzer H, van der Deure WM, Peeters RP, Hamdy NA, Pereira A, Corssmit EP, Romijn JA, Visser TJ, Smit JW.
J Bone Miner Res. 2010 Jun;25(6):1385-91.
PMID 20200941
 
The type 2 deiodinase (DIO2) A/G polymorphism is not associated with glycemic traits: the Framingham Heart Study.
Maia AL, Dupuis J, Manning A, Liu C, Meigs JB, Cupples LA, Larsen PR, Fox CS.
Thyroid. 2007 Mar;17(3):199-202.
PMID 17381351
 
Lack of association between the type 2 deiodinase A/G polymorphism and hypertensive traits: the Framingham Heart Study.
Maia AL, Hwang SJ, Levy D, Larson MG, Larsen PR, Fox CS.
Hypertension. 2008 Apr;51(4):e22-3. Epub 2008 Feb 19.
PMID 18285610
 
Type 2 iodothyronine deiodinase is the major source of plasma T3 in euthyroid humans.
Maia AL, Kim BW, Huang SA, Harney JW, Larsen PR.
J Clin Invest. 2005 Sep;115(9):2524-33. Epub 2005 Aug 25.
PMID 16127464
 
Association between a novel variant of the human type 2 deiodinase gene Thr92Ala and insulin resistance: evidence of interaction with the Trp64Arg variant of the beta-3-adrenergic receptor.
Mentuccia D, Proietti-Pannunzi L, Tanner K, Bacci V, Pollin TI, Poehlman ET, Shuldiner AR, Celi FS.
Diabetes. 2002 Mar;51(3):880-3.
PMID 11872697
 
Type 2 iodothyronine deiodinase is highly expressed in medullary thyroid carcinoma.
Meyer EL, Goemann IM, Dora JM, Wagner MS, Maia AL.
Mol Cell Endocrinol. 2008 Jul 16;289(1-2):16-22. Epub 2008 Apr 22.
PMID 18514391
 
Thyroid hormone activation in human vascular smooth muscle cells: expression of type II iodothyronine deiodinase.
Mizuma H, Murakami M, Mori M.
Circ Res. 2001 Feb 16;88(3):313-8.
PMID 11179199
 
Expression of type 2 iodothyronine deiodinase in human osteoblast is stimulated by thyrotropin.
Morimura T, Tsunekawa K, Kasahara T, Seki K, Ogiwara T, Mori M, Murakami M.
Endocrinology. 2005 Apr;146(4):2077-84. Epub 2005 Jan 13.
PMID 15650076
 
Thyrotropin receptors in brown adipose tissue: thyrotropin stimulates type II iodothyronine deiodinase and uncoupling protein-1 in brown adipocytes.
Murakami M, Kamiya Y, Morimura T, Araki O, Imamura M, Ogiwara T, Mizuma H, Mori M.
Endocrinology. 2001 Mar;142(3):1195-201.
PMID 11181535
 
Identification of two novel splicing variants of human type II iodothyronine deiodinase mRNA.
Ohba K, Yoshioka T, Muraki T.
Mol Cell Endocrinol. 2001 Feb 14;172(1-2):169-75.
PMID 11165050
 
Common variation in the DIO2 gene predicts baseline psychological well-being and response to combination thyroxine plus triiodothyronine therapy in hypothyroid patients.
Panicker V, Saravanan P, Vaidya B, Evans J, Hattersley AT, Frayling TM, Dayan CM.
J Clin Endocrinol Metab. 2009 May;94(5):1623-9. Epub 2009 Feb 3.
PMID 19190113
 
Ubiquitination-induced conformational change within the deiodinase dimer is a switch regulating enzyme activity.
Sagar GD, Gereben B, Callebaut I, Mornon JP, Zeold A, da Silva WS, Luongo C, Dentice M, Tente SM, Freitas BC, Harney JW, Zavacki AM, Bianco AC.
Mol Cell Biol. 2007 Jul;27(13):4774-83. Epub 2007 Apr 23.
PMID 17452445
 
Type 2 iodothyronine deiodinase is highly expressed in human thyroid.
Salvatore D, Tu H, Harney JW, Larsen PR.
J Clin Invest. 1996 Aug 15;98(4):962-8.
PMID 8770868
 
Targeted disruption of the type 2 selenodeiodinase gene (DIO2) results in a phenotype of pituitary resistance to T4.
Schneider MJ, Fiering SN, Pallud SE, Parlow AF, St Germain DL, Galton VA.
Mol Endocrinol. 2001 Dec;15(12):2137-48.
PMID 11731615
 
Hypothyroidism induces type 2 iodothyronine deiodinase expression in mouse heart and testis.
Wagner MS, Morimoto R, Dora JM, Benneman A, Pavan R, Maia AL.
J Mol Endocrinol. 2003 Dec;31(3):541-50.
PMID 14664714
 
Type 2 iodothyronine deiodinase is highly expressed in germ cells of adult rat testis.
Wajner SM, dos Santos Wagner M, Melo RC, Parreira GG, Chiarini-Garcia H, Bianco AC, Fekete C, Sanchez E, Lechan RM, Maia AL.
J Endocrinol. 2007 Jul;194(1):47-54.
PMID 17592020
 
Up-regulation of type 2 iodothyronine deiodinase in dilated cardiomyopathy.
Wang YY, Morimoto S, Du CK, Lu QW, Zhan DY, Tsutsumi T, Ide T, Miwa Y, Takahashi-Yanaga F, Sasaguri T.
Cardiovasc Res. 2010 Jun 5. [Epub ahead of print]
PMID 20453157
 
Cold-induced changes in gene expression in brown adipose tissue: implications for the activation of thermogenesis.
Watanabe M, Yamamoto T, Mori C, Okada N, Yamazaki N, Kajimoto K, Kataoka M, Shinohara Y.
Biol Pharm Bull. 2008 May;31(5):775-84. (REVIEW)
PMID 18451493
 
Iodothyronine deiodinase enzyme activities in bone.
Williams AJ, Robson H, Kester MH, van Leeuwen JP, Shalet SM, Visser TJ, Williams GR.
Bone. 2008 Jul;43(1):126-34. Epub 2008 Apr 4.
PMID 18468505
 
[Thyroid hormones, obesity and brown adipose tissue thermogenesis].
Zaninovich AA.
Medicina (B Aires). 2001;61(5 Pt 1):597-602. (REVIEW)
PMID 11721329
 

Citation

This paper should be referenced as such :
Maia, AL ; Wajner, SM ; Leiria, LB
DIO2 (deiodinase, iodothyronine, type II)
Atlas Genet Cytogenet Oncol Haematol. 2011;15(3):262-265.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Genes/DIO2ID44390ch14q31.html


External links

Nomenclature
HGNC (Hugo)DIO2   2884
Cards
AtlasDIO2ID44390ch14q31
Entrez_Gene (NCBI)DIO2  1734  deiodinase, iodothyronine, type II
Aliases5DII; D2; DIOII; SelY; 
TXDI2
GeneCards (Weizmann)DIO2
Ensembl hg19 (Hinxton)ENSG00000211448 [Gene_View]  chr14:80663868-80697397 [Contig_View]  DIO2 [Vega]
Ensembl hg38 (Hinxton)ENSG00000211448 [Gene_View]  chr14:80663868-80697397 [Contig_View]  DIO2 [Vega]
ICGC DataPortalENSG00000211448
TCGA cBioPortalDIO2
AceView (NCBI)DIO2
Genatlas (Paris)DIO2
WikiGenes1734
SOURCE (Princeton)DIO2
Genetics Home Reference (NIH)DIO2
Genomic and cartography
GoldenPath hg19 (UCSC)DIO2  -     chr14:80663868-80697397 -  14q24.2-q24.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)DIO2  -     14q24.2-q24.3   [Description]    (hg38-Dec_2013)
EnsemblDIO2 - 14q24.2-q24.3 [CytoView hg19]  DIO2 - 14q24.2-q24.3 [CytoView hg38]
Mapping of homologs : NCBIDIO2 [Mapview hg19]  DIO2 [Mapview hg38]
OMIM601413   
Gene and transcription
Genbank (Entrez)AB041843 AB041844 AF007144 AF093774 AF123661
RefSeq transcript (Entrez)NM_000793 NM_001007023 NM_001242502 NM_001242503 NM_013989
RefSeq genomic (Entrez)NC_000014 NC_018925 NT_026437 NW_004929393
Consensus coding sequences : CCDS (NCBI)DIO2
Cluster EST : UnigeneHs.732170 [ NCBI ]
CGAP (NCI)Hs.732170
Alternative Splicing GalleryENSG00000211448
Gene ExpressionDIO2 [ NCBI-GEO ]   DIO2 [ EBI - ARRAY_EXPRESS ]   DIO2 [ SEEK ]   DIO2 [ MEM ]
Gene Expression Viewer (FireBrowse)DIO2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1734
GTEX Portal (Tissue expression)DIO2
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ92813   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ92813  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ92813
Splice isoforms : SwissVarQ92813
Catalytic activity : Enzyme1.21.99.4 [ Enzyme-Expasy ]   1.21.99.41.21.99.4 [ IntEnz-EBI ]   1.21.99.4 [ BRENDA ]   1.21.99.4 [ KEGG ]   
PhosPhoSitePlusQ92813
Domaine pattern : Prosite (Expaxy)T4_DEIODINASE (PS01205)   
Domains : Interpro (EBI)Iodothyronine_deiodinase    Iodothyronine_deiodinase_AS    Thioredoxin-like_fold   
Domain families : Pfam (Sanger)T4_deiodinase (PF00837)   
Domain families : Pfam (NCBI)pfam00837   
Conserved Domain (NCBI)DIO2
DMDM Disease mutations1734
Blocks (Seattle)DIO2
SuperfamilyQ92813
Human Protein AtlasENSG00000211448
Peptide AtlasQ92813
HPRD09027
IPIIPI00465076   IPI00030716   IPI00941709   IPI01025213   IPI01025324   IPI01025101   IPI01025899   IPI01025571   IPI01024756   
Protein Interaction databases
DIP (DOE-UCLA)Q92813
IntAct (EBI)Q92813
FunCoupENSG00000211448
BioGRIDDIO2
STRING (EMBL)DIO2
ZODIACDIO2
Ontologies - Pathways
QuickGOQ92813
Ontology : AmiGOselenocysteine incorporation  thyroxine 5'-deiodinase activity  thyroxine 5'-deiodinase activity  plasma membrane  thyroid hormone generation  selenium binding  membrane  integral component of membrane  ubiquitin protein ligase binding  thyroid hormone metabolic process  hormone biosynthetic process  oxidation-reduction process  
Ontology : EGO-EBIselenocysteine incorporation  thyroxine 5'-deiodinase activity  thyroxine 5'-deiodinase activity  plasma membrane  thyroid hormone generation  selenium binding  membrane  integral component of membrane  ubiquitin protein ligase binding  thyroid hormone metabolic process  hormone biosynthetic process  oxidation-reduction process  
Pathways : KEGGThyroid hormone signaling pathway   
REACTOMEQ92813 [protein]
REACTOME Pathways350864 [pathway]   
NDEx NetworkDIO2
Atlas of Cancer Signalling NetworkDIO2
Wikipedia pathwaysDIO2
Orthology - Evolution
OrthoDB1734
GeneTree (enSembl)ENSG00000211448
Phylogenetic Trees/Animal Genes : TreeFamDIO2
HOVERGENQ92813
HOGENOMQ92813
Homologs : HomoloGeneDIO2
Homology/Alignments : Family Browser (UCSC)DIO2
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerDIO2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)DIO2
dbVarDIO2
ClinVarDIO2
1000_GenomesDIO2 
Exome Variant ServerDIO2
ExAC (Exome Aggregation Consortium)DIO2 (select the gene name)
Genetic variants : HAPMAP1734
Genomic Variants (DGV)DIO2 [DGVbeta]
DECIPHER (Syndromes)14:80663868-80697397  ENSG00000211448
CONAN: Copy Number AnalysisDIO2 
Mutations
ICGC Data PortalDIO2 
TCGA Data PortalDIO2 
Broad Tumor PortalDIO2
OASIS PortalDIO2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICDIO2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDDIO2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch DIO2
DgiDB (Drug Gene Interaction Database)DIO2
DoCM (Curated mutations)DIO2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)DIO2 (select a term)
intoGenDIO2
NCG5 (London)DIO2
Cancer3DDIO2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM601413   
Orphanet
MedgenDIO2
Genetic Testing Registry DIO2
NextProtQ92813 [Medical]
TSGene1734
GENETestsDIO2
Huge Navigator DIO2 [HugePedia]
snp3D : Map Gene to Disease1734
BioCentury BCIQDIO2
ClinGenDIO2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD1734
Chemical/Pharm GKB GenePA27338
Clinical trialDIO2
Miscellaneous
canSAR (ICR)DIO2 (select the gene name)
Probes
Litterature
PubMed103 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineDIO2
EVEXDIO2
GoPubMedDIO2
iHOPDIO2
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed Apr 12 11:30:33 CEST 2017

Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.