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Aliases for DIO2 Gene

Aliases for DIO2 Gene

  • Deiodinase, Iodothyronine, Type II 2 3
  • TXDI2 3 4 6
  • Type-II 5-Deiodinase 3 4
  • Deiodonase-2 2 3
  • Deiodinase-2 2 3
  • EC 1.97.1.10 4 63
  • Type 2 DI 3 4
  • DIOII 3 4
  • 5DII 3 4
  • D2 3 6
  • Type II Iodothyronine Deiodinase 3
  • Type 2 Iodothyronine Deiodinase 3
  • Thyroxine Deiodinase, Type II 3
  • Thyroxine Deiodinase 2
  • Type-II 5deiodinase 3
  • EC 1.97.1 63
  • Type II 2
  • ITDI2 4
  • SelY 3

External Ids for DIO2 Gene

Previous GeneCards Identifiers for DIO2 Gene

  • GC14M078169
  • GC14M074480
  • GC14M078653
  • GC14M079733
  • GC14M080663
  • GC14M060829

Summaries for DIO2 Gene

Entrez Gene Summary for DIO2 Gene

  • 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. [provided by RefSeq, Jul 2008]

GeneCards Summary for DIO2 Gene

DIO2 (Deiodinase, Iodothyronine, Type II) is a Protein Coding gene. Diseases associated with DIO2 include kashin-beck disease and graves' disease. Among its related pathways are Metabolism and Metabolism of amino acids and derivatives. GO annotations related to this gene include ubiquitin protein ligase binding and thyroxine 5-deiodinase 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

Gene Wiki entry for DIO2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DIO2 Gene

Genomics for DIO2 Gene

Regulatory Elements for DIO2 Gene

Genomic Location for DIO2 Gene

Start:
80,197,525 bp from pter
End:
80,387,757 bp from pter
Size:
190,233 bases
Orientation:
Minus strand

Genomic View for DIO2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for DIO2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DIO2 Gene

Proteins for DIO2 Gene

  • Protein details for DIO2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q92813-IOD2_HUMAN
    Recommended name:
    Type II iodothyronine deiodinase
    Protein Accession:
    Q92813
    Secondary Accessions:
    • B9EGK0
    • G3V315
    • Q6B0A3
    • Q9HCP8
    • Q9P1W4
    • Q9UDZ1

    Protein attributes for DIO2 Gene

    Size:
    273 amino acids
    Molecular mass:
    30552 Da
    Quaternary structure:
    • Interacts with USP20 and USP33. Interacts with MARCH6.
    SequenceCaution:
    • Sequence=AAC95470.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for DIO2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DIO2 Gene

Proteomics data for DIO2 Gene at MOPED

Post-translational modifications for DIO2 Gene

  • Ubiquitinated by MARCH6, leading to its degradation by the proteasome. Deubiquitinated by USP20 and USP33.

Domains for DIO2 Gene

Suggested Antigen Peptide Sequences for DIO2 Gene

Graphical View of Domain Structure for InterPro Entry

Q92813

UniProtKB/Swiss-Prot:

IOD2_HUMAN :
  • Q92813
Family:
  • Belongs to the iodothyronine deiodinase family.
genes like me logo Genes that share domains with DIO2: view

No data available for Gene Families for DIO2 Gene

Function for DIO2 Gene

Molecular function for DIO2 Gene

GENATLAS Biochemistry: iodothyronine 5-deiodinase type II,selenocysteine containing,expressed in thyroid,involved in the regulation of local T4 to T3 conversion
UniProtKB/Swiss-Prot CatalyticActivity: 3,5,3-triiodo-L-thyronine + iodide + A + H(+) = L-thyroxine + AH(2).
UniProtKB/Swiss-Prot Function: 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

Enzyme Numbers (IUBMB) for DIO2 Gene

Gene Ontology (GO) - Molecular Function for DIO2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004800 thyroxine 5-deiodinase activity TAS 9837913
GO:0008430 selenium binding IC 9837913
GO:0016209 antioxidant activity --
GO:0016491 oxidoreductase activity --
GO:0031625 ubiquitin protein ligase binding IPI 19651899
genes like me logo Genes that share ontologies with DIO2: view
genes like me logo Genes that share phenotypes with DIO2: view

Animal Models for DIO2 Gene

MGI Knock Outs for DIO2:

Animal Model Products

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for DIO2

In Situ Assay Products

Flow Cytometry Products

No data available for miRNA , Transcription Factor Targeting and HOMER Transcription for DIO2 Gene

Localization for DIO2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DIO2 Gene

Membrane; Single-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for DIO2 Gene COMPARTMENTS Subcellular localization image for DIO2 gene
Compartment Confidence
plasma membrane 4
endoplasmic reticulum 2
extracellular 2
nucleus 2
cytoskeleton 1
cytosol 1
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for DIO2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IC 9837913
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with DIO2: view

Pathways for DIO2 Gene

genes like me logo Genes that share pathways with DIO2: view

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for DIO2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001514 selenocysteine incorporation NAS 9837913
GO:0006590 thyroid hormone generation TAS 9837913
GO:0034641 cellular nitrogen compound metabolic process TAS --
GO:0042403 thyroid hormone metabolic process IDA 19651899
GO:0042404 thyroid hormone catabolic process --
genes like me logo Genes that share ontologies with DIO2: view

Compounds for DIO2 Gene

(6) HMDB Compounds for DIO2 Gene

Compound Synonyms Cas Number PubMed IDs
Iodide
  • Iodide
20461-54-5
Liothyronine
  • 3,3',5-Triiodo-L-thyronine
6893-02-3
Selenium
  • selenium
7782-49-2
Selenocysteine
  • (2R)-2-amino-3-selanylpropanoate
3614-08-2
Thyroxine
  • (-)-Thyroxine
51-48-9

(31) Novoseek inferred chemical compound relationships for DIO2 Gene

Compound -log(P) Hits PubMed IDs
3-iodothyronine 84.3 2
n-bromoacetyl-3,3,5-triiodo-l-thyronine 81.1 1
thyroxine 78.9 35
triiodothyronine 76.2 25
selenocysteine 74.4 7
genes like me logo Genes that share compounds with DIO2: view

Transcripts for DIO2 Gene

Unigene Clusters for DIO2 Gene

Deiodinase, iodothyronine, type II:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for DIO2

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for DIO2 Gene

No ASD Table

Relevant External Links for DIO2 Gene

GeneLoc Exon Structure for
DIO2
ECgene alternative splicing isoforms for
DIO2

Expression for DIO2 Gene

mRNA expression in normal human tissues for DIO2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for DIO2 Gene

This gene is overexpressed in Esophagus - Mucosa (7.4) and Thyroid (7.0).

SOURCE GeneReport for Unigene cluster for DIO2 Gene Hs.202354

mRNA Expression by UniProt/SwissProt for DIO2 Gene

Q92813-IOD2_HUMAN
Tissue specificity: Heart, skeletal muscle, placenta, fetal brain and several regions of the adult brain
genes like me logo Genes that share expressions with DIO2: view

In Situ Assay Products

No data available for Protein expression for DIO2 Gene

Orthologs for DIO2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for DIO2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DIO2 35
  • 99.68 (n)
  • 99.35 (a)
cow
(Bos Taurus)
Mammalia DIO2 35
  • 92.13 (n)
  • 92.51 (a)
DIO2 36
  • 86 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DIO2 35
  • 93.58 (n)
  • 93.58 (a)
DIO2 36
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Dio2 35
  • 88.68 (n)
  • 91.22 (a)
Dio2 16
Dio2 36
  • 89 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia DIO2 36
  • 67 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DIO2 36
  • 80 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Dio2 35
  • 88.04 (n)
  • 90.84 (a)
chicken
(Gallus gallus)
Aves DIO2 35
  • 77.27 (n)
  • 83.33 (a)
DIO2 36
  • 69 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DIO2 36
  • 91 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia dio2-A 35
tropical clawed frog
(Silurana tropicalis)
Amphibia dio2 35
  • 73.57 (n)
  • 78.52 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.163 35
zebrafish
(Danio rerio)
Actinopterygii dio2 35
  • 70.82 (n)
  • 71.21 (a)
dio2 36
  • 70 (a)
OneToOne
Species with no ortholog for DIO2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for DIO2 Gene

ENSEMBL:
Gene Tree for DIO2 (if available)
TreeFam:
Gene Tree for DIO2 (if available)

Paralogs for DIO2 Gene

Paralogs for DIO2 Gene

Selected SIMAP similar genes for DIO2 Gene using alignment to 8 proteins:

genes like me logo Genes that share paralogs with DIO2: view

Variants for DIO2 Gene

Sequence variations from dbSNP and Humsavar for DIO2 Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type MAF
rs172801 -- 80,198,592(+) CTTTT(C/T)TTAGA utr-variant-3-prime
rs184416 -- 80,198,662(-) TTCCA(A/G)AATGG utr-variant-3-prime
rs225010 -- 80,205,936(+) GGTGA(C/T)GGATA intron-variant
rs225011 -- 80,205,865(+) ATAAT(C/T)CTAGG intron-variant
rs225012 -- 80,204,392(+) GAAGA(A/G)GTAGA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for DIO2 Gene

Variant ID Type Subtype PubMed ID
nsv902113 CNV Gain 21882294
esv25191 CNV Gain 19812545

Relevant External Links for DIO2 Gene

HapMap Linkage Disequilibrium report
DIO2
Human Gene Mutation Database (HGMD)
DIO2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DIO2 Gene

Disorders for DIO2 Gene

(2) University of Copenhagen DISEASES for DIO2 Gene

(22) Novoseek inferred disease relationships for DIO2 Gene

Disease -log(P) Hits PubMed IDs
euthyroid sick syndromes 75.3 1
iodine deficiency 53.2 3
hypothyroidism 46.6 6
thyroid follicular carcinoma 46.6 3
graves disease 45.5 6

Relevant External Links for DIO2

Genetic Association Database (GAD)
DIO2
Human Genome Epidemiology (HuGE) Navigator
DIO2
genes like me logo Genes that share disorders with DIO2: view

No data available for UniProtKB/Swiss-Prot for DIO2 Gene

Publications for DIO2 Gene

  1. The 3'-untranslated region of human type 2 iodothyronine deiodinase mRNA contains a functional selenocysteine insertion sequence element. (PMID: 9837913) Buettner C. … Larsen P.R. (J. Biol. Chem. 1998) 3 4 23
  2. 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. (PMID: 11872697) Mentuccia D. … Celi F.S. (Diabetes 2002) 3 23 48
  3. Positive association of the DIO2 (deiodinase type 2) gene with mental retardation in the iodine-deficient areas of China. (PMID: 15286152) Guo T.W. … He L. (J. Med. Genet. 2004) 3 23 48
  4. A new polymorphism in the type II deiodinase gene is associated with circulating thyroid hormone parameters. (PMID: 15727947) Peeters R.P. … Visser T.J. (Am. J. Physiol. Endocrinol. Metab. 2005) 3 23 48
  5. 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. (PMID: 15797963) Canani L.H. … Maia A.L. (J. Clin. Endocrinol. Metab. 2005) 3 23 48

Products for DIO2 Gene

Sources for DIO2 Gene

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