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Aliases for DIO3 Gene

Aliases for DIO3 Gene

  • Deiodinase, Iodothyronine, Type III 2 3 5
  • Type 3 DI 3 4
  • DIOIII 3 4
  • TXDI3 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 4
  • Thyroxine 5-Deiodinase 2
  • Type-III 5 Deiodinase 3
  • Type-III 5-Deiodinase 3
  • EC 1.97.1.11 63
  • EC 1.21.99.3 4
  • 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
  • GC14P101881
  • GC14P101905

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 Hemangioma and Neonatal Thyrotoxicosis. Among its related pathways are Thyroid hormone signaling pathway and Amine-derived hormones. GO annotations related to this gene include thyroxine 5-deiodinase activity and thyroxine 5-deiodinase activity. An important paralog of this gene is DIO1.

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

Enhancers for DIO3 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around DIO3 on UCSC Golden Path with GeneCards custom track

Genomic Location for DIO3 Gene

Chromosome:
14
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

Genes around DIO3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DIO3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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:
    Thyroxine 5-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:
REFSEQ proteins:

Domains & Families 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 :
  • Belongs to the iodothyronine deiodinase family.
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 L-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 + acceptor + H(+) = L-thyroxine + reduced acceptor.
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

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 Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , miRNA , Transcription Factor Targets 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
plasma membrane 5
endosome 3
golgi apparatus 2
mitochondrion 2
nucleus 2
cytosol 1
extracellular 1

No data available for Gene Ontology (GO) - Cellular Components for DIO3 Gene

Pathways & Interactions 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:0034641 cellular nitrogen compound metabolic process TAS --
GO:0042446 hormone biosynthetic process IEA --
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with DIO3: view

No data available for SIGNOR curated interactions for DIO3 Gene

Drugs & Compounds for DIO3 Gene

(9) Drugs for DIO3 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Levothyroxine Approved Pharma 0
Liothyronine Approved Pharma 0

(9) Additional Compounds for DIO3 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Hydrogen Ion
  • Hydrogen cation
  • Hydron
  • Proton
I(-)
iodide
  • Iodide
  • Iodide anion
  • Iodide ion
  • Iodide Salt
  • Iodide(1-)
20461-54-5
Thyroxine sulfate
  • 3,5,3',5'-Tetraiodo-L-thyronine 4'-O-sulfate
  • 3,5,3',5'-Tetraiodo-L-thyronine 4'-O-sulphate
  • 3,5,3',5'-Tetraiodo-L-thyronine 4-O-sulfate
  • 3,5,3',5'-Tetraiodo-L-thyronine 4-O-sulphate
  • 3-[4-(4-Hydroxy-3,5-diiodophenoxy-4-O-sulfate)-3,5-diiodophenyl]-L-alanine
77074-49-8
genes like me logo Genes that share compounds with DIO3: view

Transcripts for DIO3 Gene

mRNA/cDNA for DIO3 Gene

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

Unigene Clusters for DIO3 Gene

Deiodinase, iodothyronine, type III:
Representative Sequences:

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 (x5.6), Vagina (x5.2), and Ovary (x4.3).

Protein differential expression in normal tissues from HIPED for DIO3 Gene

This gene is overexpressed in Colon muscle (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with DIO3: view

Protein tissue co-expression partners for DIO3 Gene

Primer 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

(2) 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
rs945006 -- 101,562,940(+) TGTCG(G/T)GGATG utr-variant-3-prime
rs11627443 -- 101,562,805(+) GCGCC(A/C)TGAGC utr-variant-3-prime
rs41286578 -- 101,562,826(+) TCCAG(A/G)AGACT utr-variant-3-prime
rs11845960 -- 101,559,412(+) GCTTA(C/G)GAGCA upstream-variant-2KB
rs114510460 -- 101,562,709(+) ACAGC(A/G)TTTTC utr-variant-3-prime

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

Variation tolerance for DIO3 Gene

Residual Variation Intolerance Score: 23.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.85; 17.72% of all genes are more intolerant (likely to be disease-causing)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for DIO3 Gene

Disorders for DIO3 Gene

MalaCards: The human disease database

(2) MalaCards diseases for DIO3 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
hemangioma
neonatal thyrotoxicosis
- elite association - COSMIC cancer census association via MalaCards
Search DIO3 in MalaCards View complete list of genes associated with diseases

Relevant External Links for DIO3

Genetic Association Database (GAD)
DIO3
Human Genome Epidemiology (HuGE) Navigator
DIO3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DIO3
genes like me logo Genes that share disorders with DIO3: view

No data available for UniProtKB/Swiss-Prot 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 67
  2. 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
  3. Increased type 3 iodothyronine deiodinase activity in a regrown hepatic hemangioma with consumptive hypothyroidism. (PMID: 19548001) Bessho K. … Ozono K. (Eur. J. Pediatr. 2010) 3 23
  4. Knockdown of the type 3 iodothyronine deiodinase (D3) interacting protein peroxiredoxin 3 decreases D3-mediated deiodination in intact cells. (PMID: 19819956) Aerts G. … Zavacki A.M. (Endocrinology 2009) 3 23
  5. The thyroid hormone-inactivating deiodinase functions as a homodimer. (PMID: 18356288) Sagar G.D. … Bianco A.C. (Mol. Endocrinol. 2008) 3 23

Products for DIO3 Gene

Sources for DIO3 Gene

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