Free for academic non-profit institutions. Other users need a Commercial license

Aliases for DIO3 Gene

Aliases for DIO3 Gene

  • Deiodinase, Iodothyronine, Type III 2 3
  • TXDI3 3 4 6
  • Type-III 5-Deiodinase 3 4
  • EC 1.97.1.11 4 63
  • Type 3 DI 3 4
  • DIOIII 3 4
  • 5DIII 3 4
  • Thyroxine Deiodinase Type III (Selenoprotein) 3
  • Iodothyronine Deiodinase, Placental Type 3
  • Type 3 Iodothyronine Selenodeiodinase 3
  • Type III Iodothyronine Deiodinase 3
  • Type-III 5 Deiodinase 3
  • EC 1.97.1 63
  • ITDI3 4
  • D3 3

External Ids for DIO3 Gene

Previous HGNC Symbols for DIO3 Gene

  • TXDI3

Previous GeneCards Identifiers for DIO3 Gene

  • GC14P099418
  • GC14P095843
  • GC14P100017
  • GC14P101097
  • GC14P102027
  • GC14P082210

Summaries for DIO3 Gene

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 familial partial lipodystrophy and hepatocellular carcinoma. Among its related pathways are Metabolism and Metabolism of amino acids and derivatives. 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 for DIO3 Gene

  • 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.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DIO3 Gene

Genomics for DIO3 Gene

Regulatory Elements for DIO3 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for DIO3 Gene

Start:
101,561,351 bp from pter
End:
101,563,452 bp from pter
Size:
2,102 bases
Orientation:
Plus strand

Genomic View for DIO3 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for DIO3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DIO3 Gene

Proteins for DIO3 Gene

  • Protein details for DIO3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P55073-IOD3_HUMAN
    Recommended name:
    Type III iodothyronine deiodinase
    Protein Accession:
    P55073
    Secondary Accessions:
    • G3XAM0
    • Q8WVN5

    Protein attributes for DIO3 Gene

    Size:
    304 amino acids
    Molecular mass:
    33947 Da
    Quaternary structure:
    • Homodimer. May undergo minor heretodimerization with DIO1 and DIO2.
    SequenceCaution:
    • Sequence=AAB35616.2; Type=Frameshift; Positions=21; Evidence={ECO:0000305}; Sequence=AAH17717.2; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

neXtProt entry for DIO3 Gene

Proteomics data for DIO3 Gene at MOPED

Post-translational modifications for DIO3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for DIO3 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Domains for DIO3 Gene

Suggested Antigen Peptide Sequences for DIO3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P55073

UniProtKB/Swiss-Prot:

IOD3_HUMAN :
  • P55073
Family:
  • Belongs to the iodothyronine deiodinase family.
genes like me logo Genes that share domains with DIO3: view

No data available for Gene Families for DIO3 Gene

Function for DIO3 Gene

Molecular function for DIO3 Gene

GENATLAS Biochemistry:
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
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=4.3 nM for Thyroxine {ECO:0000269 PubMed:12746313}; Vmax=1.4 pmol/min/mg enzyme {ECO:0000269 PubMed:12746313};
UniProtKB/Swiss-Prot CatalyticActivity:
3,3,5-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 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.

Enzyme Numbers (IUBMB) for DIO3 Gene

Gene Ontology (GO) - Molecular Function for DIO3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004800 thyroxine 5-deiodinase activity NAS 7593630
GO:0033798 thyroxine 5-deiodinase activity IEA --
genes like me logo Genes that share ontologies with DIO3: view
genes like me logo Genes that share phenotypes with DIO3: view

Animal Models for DIO3 Gene

MGI Knock Outs for DIO3:

Animal Model Products

No data available for miRNA , Transcription Factor Targeting and HOMER Transcription for DIO3 Gene

Localization for DIO3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DIO3 Gene

Cell membrane; Single-pass type II membrane protein. Endosome membrane; Single-pass type II membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for DIO3 Gene COMPARTMENTS Subcellular localization image for DIO3 gene
Compartment Confidence
endosome 5
plasma membrane 5
golgi apparatus 2
mitochondrion 2
cytosol 1
extracellular 1
nucleus 1

Gene Ontology (GO) - Cellular Components for DIO3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005768 endosome --
GO:0005886 plasma membrane TAS --
GO:0010008 endosome membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with DIO3: view

Pathways for DIO3 Gene

genes like me logo Genes that share pathways with DIO3: view

Interacting Proteins for DIO3 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000427336%0d%0a9606.ENSP00000352273%0d%0a
Selected Interacting proteins: ENSP00000427336 P55073-IOD3_HUMAN for DIO3 Gene via STRING I2D

Gene Ontology (GO) - Biological Process for DIO3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006590 thyroid hormone generation TAS --
GO:0008150 biological_process ND --
GO:0034641 cellular nitrogen compound metabolic process TAS --
GO:0040018 positive regulation of multicellular organism growth IEA --
GO:0042404 thyroid hormone catabolic process IEA --
genes like me logo Genes that share ontologies with DIO3: view

Compounds for DIO3 Gene

(3) HMDB Compounds for DIO3 Gene

Compound Synonyms Cas Number PubMed IDs
Iodide
  • Iodide
20461-54-5
Thyroxine
  • (-)-Thyroxine
51-48-9
Thyroxine sulfate
  • Thyroxine sulfate
77074-49-8

(13) Novoseek inferred chemical compound relationships for DIO3 Gene

Compound -log(P) Hits PubMed IDs
3-iodothyronine 98.1 17
3,3-diiodothyronine 84.9 2
thyroxine 75.6 11
selenocysteine 73.7 8
triiodothyronine 71.4 9
genes like me logo Genes that share compounds with DIO3: view

Transcripts for DIO3 Gene

mRNA/cDNA for DIO3 Gene

(4) Additional mRNA sequences :
(38) Selected AceView cDNA sequences:
(1) REFSEQ mRNAs :
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for DIO3 Gene

Deiodinase, iodothyronine, type III:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for DIO3

Primer Products

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for DIO3 Gene

No ASD Table

Relevant External Links for DIO3 Gene

GeneLoc Exon Structure for
DIO3
ECgene alternative splicing isoforms for
DIO3

Expression for DIO3 Gene

mRNA expression in normal human tissues for DIO3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for DIO3 Gene

This gene is overexpressed in Cervix - Endocervix (5.6), Vagina (5.2), and Ovary (4.3).

Protein differential expression in normal tissues for DIO3 Gene

This gene is overexpressed in Colon muscle (69.0).

Integrated Proteomics: protein expression from ProteomicsDB and MOPED for DIO3 Gene

SOURCE GeneReport for Unigene cluster for DIO3 Gene Hs.49322

mRNA Expression by UniProt/SwissProt for DIO3 Gene

P55073-IOD3_HUMAN
Tissue specificity: Expressed in placenta and several fetal tissues
genes like me logo Genes that share expressions with DIO3: view

Expression partners for DIO3 Gene

In Situ Assay Products

Orthologs for DIO3 Gene

This gene was present in the common ancestor of chordates.

Orthologs for DIO3 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia DIO3 35
  • 88.82 (n)
  • 92.36 (a)
DIO3 36
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DIO3 35
  • 90.57 (n)
  • 91.78 (a)
mouse
(Mus musculus)
Mammalia Dio3 35
  • 87.79 (n)
  • 95.05 (a)
Dio3 16
Dio3 36
  • 95 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Dio3 35
  • 87.72 (n)
  • 95.07 (a)
oppossum
(Monodelphis domestica)
Mammalia DIO3 36
  • 62 (a)
OneToOne
chicken
(Gallus gallus)
Aves DIO3 35
  • 73.04 (n)
  • 64.14 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia dio3 35
  • 68.04 (n)
  • 62.81 (a)
African clawed frog
(Xenopus laevis)
Amphibia LOC397779 35
zebrafish
(Danio rerio)
Actinopterygii -- 35
dio3b 35
  • 67.07 (n)
  • 59.59 (a)
dio3a 36
  • 58 (a)
OneToOne
Species with no ortholog for DIO3:
  • 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)
  • chimpanzee (Pan troglodytes)
  • 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)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • 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 DIO3 Gene

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

Paralogs for DIO3 Gene

Paralogs for DIO3 Gene

Selected SIMAP similar genes for DIO3 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with DIO3: view

Variants for DIO3 Gene

Sequence variations from dbSNP and Humsavar for DIO3 Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type MAF
rs945006 -- 101,562,940(+) TGTCG(G/T)GGATG utr-variant-3-prime
rs11627443 -- 101,562,805(+) GCGCC(A/C)TGAGC utr-variant-3-prime
rs11845960 -- 101,559,412(+) GCTTA(C/G)GAGCA upstream-variant-2KB
rs41286578 -- 101,562,826(+) TCCAG(A/G)AGACT utr-variant-3-prime
rs111501895 -- 101,559,493(+) CCAGA(C/G)AGCAG upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for DIO3 Gene

Variant ID Type Subtype PubMed ID
nsv902251 CNV Loss 21882294
nsv902252 CNV Loss 21882294
nsv902253 CNV Loss 21882294
dgv388n67 CNV Gain 20364138
nsv827060 CNV Gain 20364138
nsv827061 CNV Gain 20364138

Relevant External Links for DIO3 Gene

HapMap Linkage Disequilibrium report
DIO3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DIO3 Gene

Disorders for DIO3 Gene

MalaCards: The human disease database

MalaCards: The human disease database.

Search for DIO3 Gene in MalaCards »

(2) Diseases for DIO3 Gene including...

(7) Novoseek inferred disease relationships for DIO3 Gene

Disease -log(P) Hits PubMed IDs
hypothyroidism 57 7
critically ill 47 4
hemangioma 44.6 3
choriocarcinoma 31.2 2
hepatocellular carcinoma 4.48 2

Relevant External Links for DIO3

Genetic Association Database (GAD)
DIO3
Human Genome Epidemiology (HuGE) Navigator
DIO3
genes like me logo Genes that share disorders with DIO3: view

No data available for OMIM , UniProtKB/Swiss-Prot , University of Copenhagen DISEASES and Genatlas for DIO3 Gene

Publications for DIO3 Gene

  1. Type 3 iodothyronine deiodinase: cloning, in vitro expression, and functional analysis of the placental selenoenzyme. (PMID: 7593630) Salvatore D. … Larsen P.R. (J. Clin. Invest. 1995) 2 3 4 23
  2. Substitution of cysteine for selenocysteine in the catalytic center of type III iodothyronine deiodinase reduces catalytic efficiency and alters substrate preference. (PMID: 12746313) Kuiper G.G. … Visser T.J. (Endocrinology 2003) 3 4 23
  3. Localization of the type 3 iodothyronine deiodinase (DIO3) gene to human chromosome 14q32 and mouse chromosome 12F1. (PMID: 9787088) Hernandez A. … St Germain D.L. (Genomics 1998) 2 3 23
  4. Human type 3 iodothyronine selenodeiodinase is located in the plasma membrane and undergoes rapid internalization to endosomes. (PMID: 12419801) Baqui M. … Bianco A.C. (J. Biol. Chem. 2003) 3 4 23
  5. The thyroid hormone-inactivating deiodinase functions as a homodimer. (PMID: 18356288) Sagar G.D. … Bianco A.C. (Mol. Endocrinol. 2008) 3 4 23

Products for DIO3 Gene

Sources for DIO3 Gene

Back to Top

Content