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DIO3 Gene

protein-coding   GIFtS: 56
GCID: GC14P102027

Deiodinase, Iodothyronine, Type III


(Previous symbol: TXDI3)
  See DIO3-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 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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 septic shock, and familial partial lipodystrophy. 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 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 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 Chromatin IP Primers for DIO3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 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., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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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
Secondary accessions: Q8WVN5

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

Explore proteomics data for DIO3 at MOPED

Selected DME Specific Peptides for DIO3 (P55073) (see all 10)
 DFLIIYI  YQGGRGP  FGSCTUP  GNRPLVL 


See DIO3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_001353.4  
ENSEMBL proteins: 
 ENSP00000427336   ENSP00000352273  
Reactome Protein details: P55073

DIO3 Human Recombinant Protein Products:

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Search eBioscience for ELISAs for DIO3 


(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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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


Find genes that share domains with DIO3           About GenesLikeMe


(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,
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: 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:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0004800thyroxine 5'-deiodinase activity NAS7593630
GO:0033798thyroxine 5-deiodinase activity IEA--
     
Find genes that share ontologies with DIO3           About GenesLikeMe


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/body  homeostasis/metabolism  mortality/aging  reproductive system 

Find genes that share phenotypes with DIO3           About GenesLikeMe

Animal Models:
     MGI mouse knock-out Dio3tm1Stg for DIO3

   inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for DIO3
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   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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8 qRT-PCR Assays for microRNAs that regulate DIO3:
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
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Predesigned siRNA for gene silencing in human, mouse, rat DIO3

Gene Editing
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GenScript: all cDNA clones in your preferred vector: DIO3 (NM_001362)
Browse Sino Biological Human cDNA Clones
DNA2.0 Custom Codon Optimized Gene Synthesis Service for DIO3
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DIO3

Cell Line
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Browse ESI BIO Cell Lines and PureStem Progenitors for DIO3 
In Situ Assay
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DIO3


(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
IOD3_HUMAN, P55073: Cell membrane; Single-pass type II membrane protein. Endosome membrane; Single-pass type II
membrane protein
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
endosome5
plasma membrane5
golgi apparatus2
mitochondrion2
cytosol1
extracellular1
nucleus1

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

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

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(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 DIO3 About   (see all 6)  
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
5Selenium Pathway
Selenium Pathway


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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

1 Reactome Pathway for DIO3
    Regulation of thyroid hormone activity


1 Kegg Pathway  (Kegg details for DIO3):
    Thyroid hormone signaling pathway

    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for DIO3
Interactions:

    GeneGlobe Interaction 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
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Gene Ontology (GO): Selected biological process terms (see all 8):    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:0040018positive regulation of multicellular organism growth ----
GO:0042404thyroid hormone catabolic process ----

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(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 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--

Selected 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)



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(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 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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8 qRT-PCR Assays for microRNAs that regulate DIO3:
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
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Primer
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OriGene qPCR primer pairs and template standards for DIO3
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Pre-validated RT2 qPCR Primer Assay in human, mouse / rat DIO3
  QuantiTect SYBR Green Assays in human, mouse, rat DIO3
  QuantiFast Probe-based Assays in human, mouse, rat DIO3

Additional mRNA sequence: 

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

5 DOTS entries:

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

Selected AceView cDNA sequences (see all 38):

BC017717 CR607338 CR609174 BX348985 BX367669 AW297126 CR602618 CR591237 
BX161470 CR613810 BX399060 BP371839 BX388647 BX388579 BX325932 BX339373 
BX352031 BX351409 BX347263 BX367768 BX378111 BX364757 BX395074 BX397665 

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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DIO3 expression in normal human tissues (normalized intensities)
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
 selected tissues (see all 5) fully expand
 
 Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 2 entries
         hIPS1
 
 Placenta (Extraembryonic Tissues)
         Syncytiotrophoblast-like cells
 
 Endothelium (Cardiovascular System)
         Mature Endothelial Cells Blood Brain Barrier
 
 Neural Tube (Nervous System)
         Telencephalon
 
 Brain (Nervous System)
         Mature Endothelial Cells Blood Brain Barrier
DIO3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

DIO3 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.49322

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

    Custom PCR Arrays for DIO3
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QuantiFast Probe-based Assays in human, mouse, rat DIO3
In Situ
Assay Products:
 

 
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)
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This gene was present in the common ancestor of chordates.

Orthologs for DIO3 gene from Selected species (see all 9)    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 73.04(n)
64.14(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)
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Paralogs for DIO3 gene
DIO22  
2 SIMAP similar genes for DIO3 using alignment to 2 protein entries:     IOD3_HUMAN (see all proteins):
DIO1    DIO2

Find genes that share paralogs with DIO3           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 DIO3 (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

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(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: 601038    OMIM disorders: --

4 diseases for DIO3:    
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septic shock    familial partial lipodystrophy    papillary thyroid carcinoma    hepatocellular carcinoma


Find genes that share disorders with DIO3           About GenesLikeMe

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)
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PubMed articles for DIO3 gene, integrated from 10 sources (see all 95):
(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. (J. Clin. Invest. 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. (J. Biol. Chem. 2003)
  3. The thyroid hormone-inactivating deiodinase functions as a homodimer. (PubMed id 18356288)1, 2, 9 Sagar G.D.... Bianco A.C. (Mol. Endocrinol. 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. (Endocrinology 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. (Genomics 1998)
  6. Meta-analyses of genes modulating intracellular T3 bio-availability reveal a possible role for the DIO3 gene in osteoarthritis susceptibility. (PubMed id 20724312)1, 4 Meulenbelt I....Slagboom P.E. (Ann. Rheum. Dis. 2011)
  7. The imprinted DLK1-MEG3 gene region on chromosome 14q32.2 alters susceptibility to type 1 diabetes. (PubMed id 19966805)1, 4 Wallace C....Clayton D.G. (Nat. Genet. 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. (J. Clin. Endocrinol. Metab. 2009)
  9. A common variation in deiodinase 1 gene DIO1 is associated with the relative levels of free thyroxine and triiodothyronine. (PubMed id 18492748)1, 4 Panicker V....Frayling T.M. (J. Clin. Endocrinol. Metab. 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. (Genome Res. 2004)

(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: 1735 HGNC: 2885 AceView: DIO3 Ensembl:ENSG00000197406 euGenes: HUgn1735
ECgene: DIO3 Kegg: 1735 H-InvDB: DIO3

(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 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.)
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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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