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DIO2 Gene

protein-coding   GIFtS: 57
GCID: GC14M080663

Deiodinase, Iodothyronine, Type II

  See DIO2-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Deiodinase, Iodothyronine, Type II1 2     Type II1
TXDI22 3 5     SelY2
Type 2 DI2 3     Thyroxine Deiodinase, Type II2
Type-II 5'-Deiodinase2 3     Type 2 Iodothyronine Deiodinase2
5DII2 3     Type II Iodothyronine Deiodinase2
DIOII2 3     Type-II 5'Deiodinase2
EC 1.97.1.103 8     ITDI23
D22 5     EC 1.97.18
Thyroxine Deiodinase1     

External Ids:    HGNC: 28841   Entrez Gene: 17342   Ensembl: ENSG000002114487   OMIM: 6014135   UniProtKB: Q928133   

Export aliases for DIO2 gene to outside databases

Previous GC identifers: GC14M078169 GC14M074480 GC14M078653 GC14M079733 GC14M060829


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 graves' disease, and euthyroid sick syndrome. GO annotations related to this gene include thyroxine 5'-deiodinase activity and ubiquitin protein ligase binding. An important paralog of this gene is DIO3.

UniProtKB/Swiss-Prot: IOD2_HUMAN, Q92813
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

Gene Wiki entry for DIO2 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000014.8  NC_018925.2  NT_026437.13  
Regulatory elements:
   Regulatory transcription factor binding sites in the DIO2 gene promoter:
         AP-1   deltaCREB   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): DIO2 promoter sequence
   Search Chromatin IP Primers for DIO2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat DIO2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 14q24.2-q24.3   Ensembl cytogenetic band:  14q31.1   HGNC cytogenetic band: 14q24.2-q24.3

DIO2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DIO2 gene location

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14M080663:  view genomic region     (about GC identifiers)

Start:
80,663,868 bp from pter      End:
80,854,100 bp from pter
Size:
190,233 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: IOD2_HUMAN, Q92813 (See protein sequence)
Recommended Name: Type II iodothyronine deiodinase  
Size: 273 amino acids; 30552 Da
Subunit: Interacts with USP20 and USP33. Interacts with MARCH6
Sequence caution: Sequence=AAC95470.1; Type=Erroneous initiation;
Secondary accessions: B9EGK0 G3V315 Q6B0A3 Q9HCP8 Q9P1W4 Q9UDZ1
Alternative splicing: 2 isoforms:  Q92813-1   Q92813-2   (Has a Sec in positions 169 and 302)

Explore the universe of human proteins at neXtProt for DIO2: NX_Q92813

Explore proteomics data for DIO2 at MOPED

Post-translational modifications: 

  • Ubiquitinated by MARCH6, leading to its degradation by the proteasome. Deubiquitinated by USP20 and USP331
  • Modification sites at neXtProt
  • Selected DME Specific Peptides for DIO2 (Q92813) (see all 9)
     CHLLDFA  YLGGKGPF  ADFLLVYI  EAHPSDGW 


    See DIO2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (5 alternative transcripts): 
    NP_000784.2  NP_001007024.1  NP_001229431.1  NP_001229432.1  NP_054644.1  

    ENSEMBL proteins: 
     ENSP00000405854   ENSP00000451419   ENSP00000451971   ENSP00000450980   ENSP00000450547  
     ENSP00000450781   ENSP00000451136   ENSP00000451339   ENSP00000451265   ENSP00000411438  
    Reactome Protein details: Q92813

    DIO2 Human Recombinant Protein Products:

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    Browse Sino Biological Cell Lysates
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    Cloud-Clone Corp. Proteins for DIO2

     
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    antibodies-online proteins for DIO2 (8 products) 

     
    antibodies-online peptides for DIO2

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    antibodies-online antibodies for DIO2 (29 products) 

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    3 InterPro protein domains:
     IPR000643 Iodothyronine_deiodinase
     IPR008261 Iodothyronine_deiodinase_AS
     IPR012336 Thioredoxin-like_fold

    Graphical View of Domain Structure for InterPro Entry Q92813

    ProtoNet protein and cluster: Q92813

    1 Blocks protein domain: IPB008261 Iodothyronine deiodinase

    UniProtKB/Swiss-Prot: IOD2_HUMAN, Q92813
    Similarity: Belongs to the iodothyronine deiodinase family


    Find genes that share domains with DIO2           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: IOD2_HUMAN, Q92813
    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
    Catalytic activity: 3,5,3'-triiodo-L-thyronine + iodide + A + H(+) = L-thyroxine + AH(2)

         Genatlas biochemistry entry for DIO2:
    iodothyronine 5'-deiodinase type II,selenocysteine containing,expressed in thyroid,involved in the regulation of
    local T4 to T3 conversion

         Enzyme Numbers (IUBMB): EC 1.97.1.101 2 EC 1.97.12

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004800thyroxine 5'-deiodinase activity TAS9837913
    GO:0008430selenium binding IC9837913
    GO:0016209antioxidant activity ----
    GO:0016491oxidoreductase activity ----
    GO:0031625ubiquitin protein ligase binding IPI19651899
         
    Find genes that share ontologies with DIO2           About GenesLikeMe


    Phenotypes:
         7 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Dio2):
     adipose tissue  digestive/alimentary  endocrine/exocrine gland  growth/size/body  homeostasis/metabolism 
     renal/urinary system  skeleton 

    Find genes that share phenotypes with DIO2           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Dio2tm1Vag for DIO2

       genOway: Develop your customized and physiologically relevant rodent model for DIO2

    miRNA
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    hsa-miR-142-5p hsa-miR-3164 hsa-miR-193a-3p hsa-miR-3938 hsa-miR-300 hsa-miR-199a-3p hsa-miR-548k hsa-miR-29a
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Browse Sino Biological Human cDNA Clones
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DIO2


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    IOD2_HUMAN, Q92813: Membrane; Single-pass membrane protein (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane4
    endoplasmic reticulum2
    extracellular2
    nucleus2
    cytoskeleton1
    cytosol1
    mitochondrion1
    peroxisome1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0016020membrane IC9837913
    GO:0016021integral component of membrane IEA--

    Find genes that share ontologies with DIO2           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for DIO2 About   (see all 7)  
    See pathways by source

    SuperPathContained pathways About
    1Metabolism of amino acids and derivatives
    Metabolism of amino acids and derivatives
    Amine-derived hormones0.00
    Regulation of thyroid hormone activity0.00
    Thyroxine biosynthesis0.00
    2thyroid hormone metabolism I (via deiodination)
    thyroid hormone metabolism I (via deiodination)
    thyronamine and iodothyronamine metabolism0.00
    3Metabolism
    Metabolism0.38
    4Thyroid hormone signaling pathway
    Thyroid hormone signaling pathway
    5thyroid hormone metabolism II (via conjugation and/or degradation)
    thyroid hormone metabolism II (via conjugation and/or degradation)


    Find genes that share SuperPaths with DIO2           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    5 BioSystems Pathways for DIO2
        Selenium Metabolism and Selenoproteins
    Selenium Pathway
    thyroid hormone metabolism II (via conjugation and/or degradation)
    thyroid hormone metabolism I (via deiodination)
    thyronamine and iodothyronamine metabolism

    1 Reactome Pathway for DIO2
        Regulation of thyroid hormone activity


    1 Kegg Pathway  (Kegg details for DIO2):
        Thyroid hormone signaling pathway

        Pathway & Disease-focused RT2 Profiler PCR Array including DIO2: 
              Adipogenesis in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for DIO2

    Selected Interacting proteins for DIO2 (Q928133) via UniProtKB, MINT, STRING, and/or I2D (see all 10)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    USP20Q9Y2K63I2D: score=2 
    USP33Q8TEY73I2D: score=2 
    CUL5Q930343I2D: score=1 
    MARCH6O603373I2D: score=1 
    RBX1P628773I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001514selenocysteine incorporation NAS9837913
    GO:0006590thyroid hormone generation TAS9837913
    GO:0034641cellular nitrogen compound metabolic process TAS--
    GO:0042403thyroid hormone metabolic process IDA19651899
    GO:0042404thyroid hormone catabolic process ----

    Find genes that share ontologies with DIO2           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for DIO2 (IOD2)

    6 HMDB Compounds for DIO2    About this table
    CompoundSynonyms CAS #PubMed Ids
    IodideIodide (see all 10)20461-54-5--
    Liothyronine3,3',5-Triiodo-L-thyronine (see all 20)6893-02-3--
    Seleniumselenium (see all 5)7782-49-2--
    Selenocysteine(2R)-2-amino-3-selanylpropanoate (see all 8)3614-08-2--
    Thyroxine(-)-Thyroxine (see all 33)51-48-9--
    Thyroxine sulfateThyroxine sulfate (see all 8)77074-49-8--

    Selected Novoseek inferred chemical compound relationships for DIO2 gene (see all 31)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    3-iodothyronine 84.3 2 12586771 (1), 12843166 (1)
    n-bromoacetyl-3,3',5-triiodo-l-thyronine 81.1 1 8770868 (1)
    thyroxine 78.9 53 11716036 (3), 16140305 (2), 8770868 (2), 12419801 (1) (see all 31)
    triiodothyronine 76.2 37 20458138 (2), 14523556 (2), 11716036 (2), 15891024 (1) (see all 22)
    selenocysteine 74.4 11 11897672 (3), 10698189 (1), 12746313 (1), 10403186 (1) (see all 5)
    3,3'-diiodothyronine 70.1 1 15192045 (1)
    propylthiouracil 67.1 6 18339710 (1), 9709961 (1), 11425850 (1), 8770868 (1) (see all 6)
    iodine 51.5 7 8754756 (1), 16131334 (1), 18339710 (1), 8770868 (1) (see all 5)
    mg 132 48.5 9 11075806 (2), 10698189 (1), 19651899 (1), 11425850 (1)
    pgd2 34.4 2 16940740 (1), 10582659 (1)



    Find genes that share compounds with DIO2           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for DIO2 gene (5 alternative transcripts): 
    NM_000793.5  NM_001007023.3  NM_001242502.1  NM_001242503.1  NM_013989.4  

    Unigene Cluster for DIO2:

    Deiodinase, iodothyronine, type II
    Hs.202354  [show with all ESTs]
    Unigene Representative Sequence: NM_000793
    15 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000438257(uc001xut.3 uc010asx.3 uc021rxa.1 uc021rxb.1 uc001xut.3 uc010asx.3 uc021rxa.1 uc021rxb.1)
    ENST00000438257(uc001xut.3 uc010asx.3 uc021rxa.1 uc021rxb.1 uc001xut.3 uc010asx.3 uc021rxa.1 uc021rxb.1)
    ENST00000557010(uc010asy.3 uc010asy.3) ENST00000557010(uc010asy.3 uc010asy.3)
    ENST00000556811 ENST00000555750 ENST00000555750 ENST00000555750 ENST00000557125
    ENST00000555844 ENST00000554188 ENST00000553968 ENST00000553594 ENST00000556384
    ENST00000422005
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    hsa-miR-142-5p hsa-miR-3164 hsa-miR-193a-3p hsa-miR-3938 hsa-miR-300 hsa-miR-199a-3p hsa-miR-548k hsa-miR-29a
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      QuantiFast Probe-based Assays in human, mouse, rat DIO2

    Additional mRNA sequence: 

    AB041843.1 AB041844.1 AF007144.1 AF093774.1 AF123661.1 AK292210.1 AK311603.1 BC063118.1 
    BC074882.2 BC136514.1 U53506.1 

    8 DOTS entries:

    DT.415582  DT.100797024  DT.95339627  DT.92430647  DT.95267216  DT.100758037  DT.40260155  DT.92430644 

    Selected AceView cDNA sequences (see all 159):

    CN479762 AI222943 CD014033 AJ710532 AI865780 CN480723 AA864322 BF447911 
    AB041843 AI458655 BQ574883 BE466333 BC074882 AW029226 CB215551 AI697311 
    AI801101 BE439562 AI032418 AI681219 AF007144 Z40113 U53506 BE466580 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    DIO2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ATGCTAAGAG
    DIO2 Expression
    About this image


    DIO2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 14) fully expand
     
     Bone (Muscoskeletal System)    fully expand to see all 10 entries
             HyStem+TGFbeta3+GDF5-induced MEL2 cells
     
     Cartilage (Muscoskeletal System)    fully expand to see all 8 entries
             HyStem+TGFbeta3+GDF5-induced MEL2 cells
     
     Adipose (Muscoskeletal System)    fully expand to see all 5 entries
             Interscapular Brown Adipose Depot
             HyStem+BMP4-induced E15 cells
     
     Neural Crest (Gastrulation Derivatives)    fully expand to see all 2 entries
             PureStem 7PEND24, NCr-fac & Meso-prx Progenitor
     
     Placenta (Extraembryonic Tissues)    fully expand to see all 2 entries
             Placenta-derived mesenchymal stem cells (family)
    DIO2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    DIO2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.202354

    UniProtKB/Swiss-Prot: IOD2_HUMAN, Q92813
    Tissue specificity: Heart, skeletal muscle, placenta, fetal brain and several regions of the adult brain

        Pathway & Disease-focused RT2 Profiler PCR Array including DIO2: 
              Adipogenesis in human mouse rat

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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

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    This gene was present in the common ancestor of chordates.

    Orthologs for DIO2 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Dio21 , 5 deiodinase, iodothyronine, type II1, 5 88.68(n)1
    91.22(a)1
      12 (44.05 cM)5
    133711  NM_010050.21  NP_034180.11 
     907245545 
    chicken
    (Gallus gallus)
    Aves DIO21 deiodinase, iodothyronine, type II 77.27(n)
    83.33(a)
      373903  NM_204114.3  NP_989445.2 
    lizard
    (Anolis carolinensis)
    Reptilia DIO26
    deiodinase, iodothyronine, type II
    91(a)
    1 ↔ 1
    1(18488615-18503777)
    African clawed frog
    (Xenopus laevis)
    Amphibia dio2-A2 type II iodothyronine deiodinase 78.95(n)    AF354707.1 
    zebrafish
    (Danio rerio)
    Actinopterygii dio22 deiodinase, iodothyronine, type II 76.4(n)   352937  BC059608.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for DIO2 gene
    DIO32  
    2 SIMAP similar genes for DIO2 using alignment to 8 protein entries:     IOD2_HUMAN (see all proteins):
    DIO1    DIO3

    Find genes that share paralogs with DIO2           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for DIO2 (see all 210)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 14 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs101364541,2
    C,F,H--80663405(+) GTGTTC/TAAATG 5 -- ds500112Minor allele frequency- T:0.01NS EA NA 1562
    rs1446960641,2
    C--80663437(+) CAATC-/ATAA  
            
    ATAAT
    5 -- ds50010--------
    rs2008991071,2
    C--80663477(+) TGTGTA/GTGTGT 5 -- ds50010--------
    rs1403653781,2
    C--80663478(+) GTGTA-/TGTGTGT 5 -- ds50010--------
    rs2250201,2
    C--80663479(-) ACACAC/TATACA 5 -- ds50012Minor allele frequency- T:0.00NA 4
    rs1867942191,2
    --80663744(+) CTTTGC/TCCACA 5 -- ds50010--------
    rs769776481,2
    F--80663828(+) CAAGTT/GCTAGG 5 -- ds50011Minor allele frequency- G:0.04WA 118
    rs1923344371,2
    --80663936(+) GCACTC/GAGCAC 5 -- ut310--------
    rs2250191,2
    C,F,H--80663956(-) GAAAGA/GGTGTT 5 -- ut3112Minor allele frequency- G:0.06MN NS EA NA WA 1490
    rs10568131,2
    C--80664119(-) ACATTA/GGTTTG 5 -- ut313Minor allele frequency- G:0.00MN NA 188

    HapMap Linkage Disequilibrium report for DIO2 (80663868 - 80854100 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for DIO2:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv902113CNV Gain21882294
    esv25191CNV Gain19812545

    Human Gene Mutation Database (HGMD): DIO2
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing DIO2
    DNA2.0 Custom Variant and Variant Library Synthesis for DIO2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 601413    OMIM disorders: --

    10 diseases for DIO2:    
    About MalaCards
    graves' disease    euthyroid sick syndrome    familial partial lipodystrophy    thyrotoxicosis
    hyperthyroidism    thyroid adenoma    pendred syndrome    follicular thyroid carcinoma
    insulin resistance    type 2 diabetes mellitus

    2 diseases from the University of Copenhagen DISEASES database for DIO2:
    Hypothyroidism     Hyperthyroidism

    Find genes that share disorders with DIO2           About GenesLikeMe

    Selected Novoseek inferred disease relationships for DIO2 gene (see all 22)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    euthyroid sick syndromes 75.3 1 14635503 (1)
    iodine deficiency 53.2 5 16131334 (1), 8770868 (1), 19352319 (1)
    hypothyroidism 46.6 8 19293265 (4), 11598378 (1), 17891232 (1)
    thyroid follicular carcinoma 46.6 3 12574186 (2), 17891232 (1)
    graves disease 45.5 6 12699588 (4), 8770868 (1), 19684474 (1)
    thyroid carcinoma 45.1 1 20200941 (1)
    thyroid adenoma 41.7 1 10614643 (1)
    adenoma follicular 30.3 1 8770868 (1)
    hyperthyroidism 28.8 1 17389703 (1), 17588648 (1)
    insulin resistance 27.4 8 15797963 (2), 17408423 (1), 16356084 (1), 17381351 (1) (see all 6)

    Genetic Association Database (GAD): DIO2
    Human Genome Epidemiology (HuGE) Navigator: DIO2 (33 documents)

    Export disorders for DIO2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for DIO2 gene, integrated from 10 sources (see all 216):
    (articles sorted by number of sources associating them with DIO2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning of the mammalian type II iodothyronine deiodinase. A selenoprotein differentially expressed and regulated in human and rat brain and other tissues. (PubMed id 8755651)1, 2, 3 Croteau W.... St Germain D.L. (J. Clin. Invest. 1996)
    2. The E3 ubiquitin ligase TEB4 mediates degradation of type 2 iodothyronine deiodinase. (PubMed id 19651899)1, 2, 9 Zavacki A.M.... Bianco A.C. (Mol. Cell. Biol. 2009)
    3. Studies of the common DIO2 Thr92Ala polymorphism and metabolic phenotypes in 7342 Danish white subjects. (PubMed id 17077128)1, 4, 9 Grarup N....Pedersen O. (J. Clin. Endocrinol. Metab. 2007)
    4. The association of polymorphisms in the type 1 and 2 deiodinase genes with circulating thyroid hormone parameters and atrophy of the medial temporal lobe. (PubMed id 17105838)1, 4, 9 de Jong F.J....Breteler M.M. (J. Clin. Endocrinol. Metab. 2007)
    5. A new polymorphism in the type II deiodinase gene is associated with circulating thyroid hormone parameters. (PubMed id 15727947)1, 4, 9 Peeters R.P....Visser T.J. (Am. J. Physiol. Endocrinol. Metab. 2005)
    6. Positive association of the DIO2 (deiodinase type 2) gene with mental retardation in the iodine-deficient areas of China. (PubMed id 15286152)1, 4, 9 Guo T.W....He L. (J. Med. Genet. 2004)
    7. The 3'-untranslated region of human type 2 iodothyronine deiodinase mRNA contains a functional selenocysteine insertion sequence element. (PubMed id 9837913)1, 2, 9 Buettner C.... Larsen P.R. (J. Biol. Chem. 1998)
    8. Type 2 deiodinase Thr92Ala polymorphism impact on clinical course and myocardial remodeling in patients with Graves' disease. (PubMed id 19684474)1, 4, 9 Grineva E....Larionova V. (Cell Cycle 2009)
    9. Common variation in the DIO2 gene predicts baseline psychological well-being and response to combination thyroxine plus triiodothyronine therapy in hypothyroid patients. (PubMed id 19190113)1, 4, 9 Panicker V....Dayan C.M. (J. Clin. Endocrinol. Metab. 2009)
    10. 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. (PubMed id 15797963)1, 4, 9 Canani L.H....Maia A.L. (J. Clin. Endocrinol. Metab. 2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 1734 HGNC: 2884 AceView: DIO2 Ensembl:ENSG00000211448 euGenes: HUgn1734
    ECgene: DIO2 Kegg: 1734 H-InvDB: DIO2

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for DIO2 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for DIO2 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for DIO2 gene:
    Search GeneIP for patents involving DIO2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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