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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

DIO3 Gene

protein-coding   GIFtS: 58
GCID: GC14P102027

Deiodinase, Iodothyronine, Type III


(Previous symbol: TXDI3)
  See 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)
About This Section

Aliases
Deiodinase, Iodothyronine, Type III1 2     Iodothyronine Deiodinase, Placental Type2
TXDI31 2 3 5     Thyroxine Deiodinase Type III (Selenoprotein)2
Type 3 DI2 3     Type 3 Iodothyronine Selenodeiodinase2
Type-III 5'-Deiodinase2 3     Type III Iodothyronine Deiodinase2
5DIII2 3     Type-III 5' Deiodinase2
DIOIII2 3     ITDI33
EC 1.97.1.113 8     EC 1.97.18
D32     

External Ids:    HGNC: 28851   Entrez Gene: 17352   Ensembl: ENSG000001974067   OMIM: 6010385   UniProtKB: P550733   

Export aliases for DIO3 gene to outside databases

Previous GC identifers: GC14P099418 GC14P095843 GC14P100017 GC14P101097 GC14P082210


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for DIO3 Gene:
The protein encoded by this intronless gene belongs to the iodothyronine deiodinase family. It catalyzes the
inactivation of thyroid hormone by inner ring deiodination of the prohormone thyroxine (T4) and the bioactive
hormone 3,3',5-triiodothyronine (T3) to inactive metabolites, 3,3',5'-triiodothyronine (RT3) and
3,3'-diiodothyronine (T2), respectively. This enzyme is highly expressed in the pregnant uterus, placenta, fetal
and neonatal tissues, suggesting that it plays an essential role in the regulation of thyroid hormone
inactivation during embryological development. This protein contains a selenocysteine (Sec) residue, which is
essential for efficient enzyme activity. The selenocysteine is 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.
(provided by RefSeq, Jul 2008)

GeneCards Summary for DIO3 Gene: 
DIO3 (deiodinase, iodothyronine, type III) is a protein-coding gene. Diseases associated with DIO3 include neonatal thyrotoxicosis, and partial fetal alcohol syndrome, and among its related super-pathways are thyroid hormone metabolism I (via deiodination) and Metabolic pathways. GO annotations related to this gene include thyroxine 5'-deiodinase activity and thyroxine 5-deiodinase activity. An important paralog of this gene is DIO2.

UniProtKB/Swiss-Prot: IOD3_HUMAN, P55073
Function: Responsible for the deiodination of T4 (3,5,3',5'-tetraiodothyronine) into RT3
(3,3',5'-triiodothyronine) and of T3 (3,5,3'-triiodothyronine) into T2 (3,3'-diiodothyronine). RT3 and T2 are
inactive metabolites. May play a role in preventing premature exposure of developing fetal tissues to adult
levels of thyroid hormones. Can regulate circulating fetal thyroid hormone concentrations throughout gestation.
Essential role for regulation of thyroid hormone inactivation during embryological development




(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000014.8  NC_018925.2  NT_026437.12  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the DIO3 gene promoter:
         GR   Nkx3-1   Nkx3-1 v4   STAT5A   Nkx3-1 v1   Nkx3-1 v2   PPAR-alpha   Nkx3-1 v3   GR-alpha   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for DIO3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DIO3


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

Entrez Gene cytogenetic band: 14q32   Ensembl cytogenetic band:  14q32.31   HGNC cytogenetic band: 14q32

DIO3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DIO3 gene location

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14P102027:  view genomic region     (about GC identifiers)

Start:
102,027,688 bp from pter      End:
102,029,789 bp from pter
Size:
2,102 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: IOD3_HUMAN, P55073 (See protein sequence)
Recommended Name: Type III iodothyronine deiodinase  
Size: 278 amino acids; 31451 Da
Subunit: Homodimer. May undergo minor heretodimerization with DIO1 and DIO2
Subcellular location: Cell membrane; Single-pass type II membrane protein. Endosome membrane; Single-pass type II
membrane protein
Secondary accessions: Q8WVN5

Explore the universe of human proteins at neXtProt for DIO3: NX_P55073

Explore proteomics data for DIO3 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P55073

  • 4/10 DME Specific Peptides for DIO3 (P55073) (see all 10)
     DFLIIYI  YQGGRGP  FGSCTUP  GNRPLVL 

    DIO3 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    DIO3 Protein Expression
    REFSEQ proteins: NP_001353.4  
    ENSEMBL proteins: 
     ENSP00000427336   ENSP00000352273  
    Reactome Protein details: P55073
    Human Recombinant Protein Products for DIO3: 
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    Novus Biologicals DIO3 Proteins
    Novus Biologicals DIO3 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for DIO3 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0010008endosome membrane IEA--
    GO:0016021integral to membrane IEA--

    DIO3 for ontologies           About GeneDecksing



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    Cloud-Clone Corp. CLIAs for DIO3


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    4 InterPro protein domains:
     IPR000643 Iodothyronine_deiodinase
     IPR008261 Iodothyronine_deiodinase_AS
     IPR012336 Thioredoxin-like_fold
     IPR027252 Iodothyronine_deiodinase_I/III

    Graphical View of Domain Structure for InterPro Entry P55073

    ProtoNet protein and cluster: P55073

    1 Blocks protein domain: IPB008261 Iodothyronine deiodinase

    UniProtKB/Swiss-Prot: IOD3_HUMAN, P55073
    Similarity: Belongs to the iodothyronine deiodinase family


    DIO3 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: IOD3_HUMAN, P55073
    Function: Responsible for the deiodination of T4 (3,5,3',5'-tetraiodothyronine) into RT3
    (3,3',5'-triiodothyronine) and of T3 (3,5,3'-triiodothyronine) into T2 (3,3'-diiodothyronine). RT3 and T2 are
    inactive metabolites. May play a role in preventing premature exposure of developing fetal tissues to adult
    levels of thyroid hormones. Can regulate circulating fetal thyroid hormone concentrations throughout gestation.
    Essential role for regulation of thyroid hormone inactivation during embryological development
    Catalytic activity: 3,3',5'-triiodo-L-thyronine + iodide + A + H(+) = L-thyroxine + AH(2)
    Biophysicochemical properties: Kinetic parameters: KM=4.3 nM for Thyroxine; Vmax=1.4 pmol/min/mg enzyme;

         Genatlas biochemistry entry for DIO3:
    iodothyronine 5'-deiodinase type III,selenocysteine containing,catalyzing tyrosyl ring deiodination,highly
    expressed in the placenta and several fetal tissues,restricted to the skin an central nervous system

         Enzyme Numbers (IUBMB): EC 1.97.1.111 2 EC 1.97.12

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004800thyroxine 5'-deiodinase activity NAS7593630
    GO:0033798thyroxine 5-deiodinase activity IEA--
         
    DIO3 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for DIO3:
     Decreased Salmonella enterica  

         5 MGI mutant phenotypes (inferred from 1 allele(MGI details for Dio3):
     cellular  growth/size  homeostasis/metabolism  mortality/aging  reproductive system 

    DIO3 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Dio3tm1Stg for DIO3

       inGenious Targeting Laboratory - Custom generated mouse model solutions for DIO3 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for DIO3

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for DIO3 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for DIO3 

    miRNA
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    hsa-miR-4291 hsa-miR-4283 hsa-miR-214 hsa-miR-922 hsa-miR-191* hsa-miR-761 hsa-miR-552 hsa-miR-1912
    SwitchGear 3'UTR luciferase reporter plasmidDIO3 3' UTR sequence
    Inhib. RNA
    Products:
        
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    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for DIO3 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Regulation of thyroid hormone activity
    Regulation of thyroid hormone activity0.67
    Thyroxine biosynthesis0.50
    thyroid hormone metabolism I (via deiodination)0.67
    Amine-derived hormones0.43
    thyronamine and iodothyronamine metabolism0.67
    2Metabolism
    Metabolism0.40
    3Selenium Pathway
    Selenium Pathway
    4Selenium Metabolism and Selenoproteins
    Selenium Metabolism and Selenoproteins
    5Metabolism of amino acids and derivatives
    Metabolism of amino acids and derivatives

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    4 BioSystems Pathways for DIO3
        Selenium Metabolism and Selenoproteins
    Selenium Pathway
    thyroid hormone metabolism I (via deiodination)
    thyronamine and iodothyronamine metabolism

    5        Reactome Pathways for DIO3
        Thyroxine biosynthesis
    Amine-derived hormones
    Metabolism
    Metabolism of amino acids and derivatives
    Regulation of thyroid hormone activity



    DIO3 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for DIO3

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    3 Interacting proteins for DIO3 (P550733 ENSP000003522734) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PRMT5O147443, ENSP000003191694I2D: score=1 STRING: ENSP00000319169
    PRMT7Q9NVM43, ENSP000003431034I2D: score=1 STRING: ENSP00000343103
    --ENSP000003734904STRING: ENSP00000373490
    About this table

    Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006590thyroid hormone generation TAS--
    GO:0008150biological_process ND--
    GO:0034641cellular nitrogen compound metabolic process TAS--
    GO:0042446hormone biosynthetic process IEA--
    GO:0044281small molecule metabolic process TAS--

    DIO3 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    DIO3 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for DIO3 (IOD3)

    3 HMDB Compounds for DIO3    About this table
    CompoundSynonyms CAS #PubMed Ids
    IodideIodide (see all 10)20461-54-5--
    Thyroxine(-)-Thyroxine (see all 33)51-48-9--
    Thyroxine sulfateThyroxine sulfate (see all 8)77074-49-8--

    10/13 Novoseek inferred chemical compound relationships for DIO3 gene (see all 13)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    3-iodothyronine 98.1 20 12419801 (2), 12586771 (2), 9787088 (1), 16131330 (1) (see all 15)
    3,3'-diiodothyronine 84.9 2 15192045 (1), 11375791 (1)
    thyroxine 75.6 15 12419801 (2), 16131330 (1), 20458138 (1), 16131331 (1) (see all 10)
    selenocysteine 73.7 11 12746313 (3), 7593630 (2), 12399446 (2), 11897672 (1)
    triiodothyronine 71.4 12 12419801 (1), 16131330 (1), 20458138 (1), 16131335 (1) (see all 9)
    propylthiouracil 62.9 2 9709961 (1)
    dithiothreitol 47.1 12 9709961 (1), 12586771 (1), 19819956 (1)
    125i 31.6 8 9709961 (1)
    alanine 27.1 1 11897672 (1)
    cysteine 26 2 12746313 (1), 11897672 (1)

    Search CenterWatch for drugs/clinical trials and news about DIO3 / IOD3

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for DIO3 gene: 
    NM_001362.3  

    Unigene Cluster for DIO3:

    Deiodinase, iodothyronine, type III
    Hs.49322  [show with all ESTs]
    Unigene Representative Sequence: NM_001362
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000510508 ENST00000359323(uc021sdx.1)
    miRNA
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    hsa-miR-4291 hsa-miR-4283 hsa-miR-214 hsa-miR-922 hsa-miR-191* hsa-miR-761 hsa-miR-552 hsa-miR-1912
    SwitchGear 3'UTR luciferase reporter plasmidDIO3 3' UTR sequence
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    Additional mRNA sequence: 

    AK292310.1 BC017717.1 BX161470.1 S79854.1 

    5 DOTS entries:

    DT.95074956  DT.406542  DT.100784404  DT.100784408  DT.100774824 

    24/38 AceView cDNA sequences (see all 38):

    BC017717 BX161470 CR613810 CR591237 BX348985 BX399060 CR609174 CR602618 
    BP371839 CR607338 BX367669 AW297126 BX367768 BX368109 BX378111 BX388587 
    BX339373 BF980923 BX364757 BX351409 BX339372 BX388647 BX347263 BX395074 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    DIO3 expression in normal human tissues (normalized intensities)      DIO3 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCCAACTCCA
    DIO3 Expression
    About this image


    DIO3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/8 selected tissues (see all 8) fully expand
     
     Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 3 entries
             hIPS1
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Postnatal Endothelial Cells Blood Brain Barrier
             brain/forebrain/diencephalon   
     
     Blood Brain Barrier (Nervous System)
             Postnatal Endothelial Cells Blood Brain Barrier
     
     Gut Tube (Gastrointestinal Tract)
             Definitive endoderm-like cells ( A scalable, suspension protocol for derivation of...
     
     Cartilage (Muscoskeletal System)
             fetal cartilage   

    See DIO3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for DIO3

    SOURCE GeneReport for Unigene cluster: Hs.49322

    UniProtKB/Swiss-Prot: IOD3_HUMAN, P55073
    Tissue specificity: Expressed in placenta and several fetal tissues

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DIO3

    (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

    This gene was present in the common ancestor of chordates.

    Orthologs for DIO3 gene from 4/8 species (see all 8)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Dio31 , 5 deiodinase, iodothyronine type III1, 5 87.79(n)1
    95.05(a)1
      12 (60.56 cM)5
    1075851  NM_172119.21  NP_742117.21 
     1102790685 
    chicken
    (Gallus gallus)
    Aves DIO31 deiodinase, iodothyronine, type III 72.73(n)
    63.64(a)
      395939  NM_001122648.1  NP_001116120.1 
    African clawed frog
    (Xenopus laevis)
    Amphibia LOC3977792 iodothyronine 5-deiodinase type III 77.3(n)    L28111.1 
    zebrafish
    (Danio rerio)
    Actinopterygii AY221259.12   -- 79.98(n)   352936  AY221259.1 


    ENSEMBL Gene Tree for DIO3 (if available)
    TreeFam Gene Tree for DIO3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for DIO3 gene
    DIO22  DIO12  
    2 SIMAP similar genes for DIO3 using alignment to 1 protein entry:     IOD3_HUMAN:
    DIO1    DIO2

    DIO3 for paralogs           About GeneDecksing



    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/24 SNPs in DIO3 are shown (see all 24)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 14 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1503763641,2
    --102025713(+) CACCTC/GAAAGA 1 -- us2k10--------
    rs1912808741,2
    C--102025736(+) GTGGTG/TAGGGG 1 -- us2k10--------
    rs118459601,2
    C,F,H--102025749(+) GCTTAG/CGAGCA 1 -- us2k11Minor allele frequency- C:0.50NA 4
    rs1464742151,2
    --102025917(+) TCGGGC/GGCTTG 1 -- us2k10--------
    rs1125699041,2
    C--102026079(+) GACACG/CTTCCT 1 -- us2k11Minor allele frequency- C:0.50CSA 2
    rs1439687901,2
    --102029130(+) GGCCAC/TGCCCG 1 -- ut310--------
    rs1133709311,2
    C,F--102029139(+) CGCGCG/TCCCTG 1 -- ut311Minor allele frequency- T:0.50CSA 2
    rs116274431,2
    C,H--102029142(+) GCGCCA/CTGAGC 1 -- ut31 ese30--------
    rs412865781,2
    --102029163(+) TCCAGA/GAGACT 1 -- ut310--------
    rs1407809321,2
    --102029276(+) ATGTCA/GTGGAT 1 -- ut310--------

    HapMap Linkage Disequilibrium report for DIO3 (102027688 - 102029789 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for DIO3:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv902251CNV Loss21882294
    nsv902253CNV Loss21882294
    nsv902252CNV Loss21882294
    dgv388n67CNV Gain20364138
    nsv827061CNV Gain20364138
    nsv827060CNV Gain20364138

    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 601038    OMIM disorders: --

    20/21 diseases for DIO3 (see all 21):    About MalaCards
    neonatal thyrotoxicosis    partial fetal alcohol syndrome    alcohol-related neurodevelopmental disorder    alcohol-related birth defect
    fetal alcohol syndrome    thyrotoxicosis    birth defects    familial partial lipodystrophy
    lipodystrophy    choriocarcinoma    hypothyroidism    hemangioma
    thyroiditis    alcoholism    hepatocellular carcinoma    hypoxia
    osteoarthritis    type 1 diabetes    myocardial infarction    hepatitis


    DIO3 for disorders           About GeneDecksing

    7 Novoseek inferred disease relationships for DIO3 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hypothyroidism 57 8 16131330 (1), 17628010 (1), 19293265 (1), 11844744 (1) (see all 7)
    critically ill 47 5 18212764 (2), 16131330 (1), 16150911 (1)
    hemangioma 44.6 3 12419801 (1), 17891232 (1), 16037131 (1)
    choriocarcinoma 31.2 2 12970328 (1), 16935842 (1)
    hepatocellular carcinoma 4.48 4 12419801 (1), 16935842 (1)
    inflammation 0 4 16150911 (2), 18212764 (1)
    tumors 0 7 12364418 (2), 17628010 (1), 19548001 (1), 16405410 (1) (see all 5)

    Genetic Association Database (GAD): DIO3
    Human Genome Epidemiology (HuGE) Navigator: DIO3 (4 documents)

    Export disorders for DIO3 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)
    About This Section

    PubMed articles for DIO3 gene, integrated from 9 sources (see all 93):
    (articles sorted by number of sources associating them with DIO3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Type 3 iodothyronine deiodinase: cloning, in vitro expression, and functional analysis of the placental selenoenzyme. (PubMed id 7593630)1, 2, 3, 9 Salvatore D.... Larsen P.R. (1995)
    2. Human type 3 iodothyronine selenodeiodinase is located in the plasma membrane and undergoes rapid internalization to endosomes. (PubMed id 12419801)1, 2, 9 Baqui M.... Bianco A.C. (2003)
    3. The thyroid hormone-inactivating deiodinase functions as a homodimer. (PubMed id 18356288)1, 2, 9 Sagar G.D....Bianco A.C. (2008)
    4. Substitution of cysteine for selenocysteine in the catalytic center of type III iodothyronine deiodinase reduces catalytic efficiency and alters substrate preference. (PubMed id 12746313)1, 2, 9 Kuiper G.G....Visser T.J. (2003)
    5. Localization of the type 3 iodothyronine deiodinase (DIO3) gene to human chromosome 14q32 and mouse chromosome 12F1. (PubMed id 9787088)1, 3, 9 Hernandez A....St Germain D.L. (1998)
    6. Meta-analyses of genes modulating intracellular T3 bi o-availability reveal a possible role for the DIO3 gene in osteoarthritis susce ptibility. (PubMed id 20724312)1, 4 Meulenbelt I....Slagboom P.E. (2011)
    7. The imprinted DLK1-MEG3 gene region on chromosome 14q 32.2 alters susceptibility to type 1 diabetes. (PubMed id 19966805)1, 4 Wallace C....Clayton D.G. (2010)
    8. 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 Panicker V....Dayan C.M. (2009)
    9. A Common variation in Deiodinase 1 gene DIO1 is associated with the relative levels of free thyroxine and triidothyronine. (PubMed id 18492748)1, 4 Panicker V....Frayling T.M. (2008)
    10. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 1735 HGNC: 2885 AceView: DIO3 Ensembl:ENSG00000197406 euGenes: HUgn1735
    ECgene: DIO3 H-InvDB: DIO3

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for DIO3 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for DIO3 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for DIO3 gene:
    Search GeneIP for patents involving DIO3

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



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