D-dopachrome tautomerase converts D-dopachrome into 5,6-dihydroxyindole. The DDT gene is related to the migration inhibitory factor (MIF) in terms of sequence, enzyme activity, and gene structure. DDT and MIF are closely linked on chromosome 22. [provided by RefSeq, Jul 2008] See more...

Aliases for DDT Gene

Aliases for DDT Gene

  • D-Dopachrome Tautomerase 2 3 4 5
  • D-Dopachrome Decarboxylase 2 3 4
  • Phenylpyruvate Tautomerase II 3 4
  • MIF-2 2 3
  • D-DT 2 3
  • DDCT 2 3
  • MIF2 2 3
  • EC 4.1.1.84 4
  • DDT 5

External Ids for DDT Gene

Previous GeneCards Identifiers for DDT Gene

  • GC22M021009
  • GC22M022638
  • GC22M024313
  • GC22M007261

Summaries for DDT Gene

Entrez Gene Summary for DDT Gene

  • D-dopachrome tautomerase converts D-dopachrome into 5,6-dihydroxyindole. The DDT gene is related to the migration inhibitory factor (MIF) in terms of sequence, enzyme activity, and gene structure. DDT and MIF are closely linked on chromosome 22. [provided by RefSeq, Jul 2008]

GeneCards Summary for DDT Gene

DDT (D-Dopachrome Tautomerase) is a Protein Coding gene. Diseases associated with DDT include 46,Xy Sex Reversal 8 and 46,Xy Sex Reversal. Gene Ontology (GO) annotations related to this gene include dopachrome isomerase activity and D-dopachrome decarboxylase activity. An important paralog of this gene is ENSG00000285762.

UniProtKB/Swiss-Prot Summary for DDT Gene

  • Tautomerization of D-dopachrome with decarboxylation to give 5,6-dihydroxyindole (DHI).

Gene Wiki entry for DDT Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DDT Gene

Genomics for DDT Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for DDT Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DDT on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DDT

Top Transcription factor binding sites by QIAGEN in the DDT gene promoter:
  • AP-1
  • ATF-2
  • c-Jun
  • p53

Genomic Locations for DDT Gene

Genomic Locations for DDT Gene
chr22:23,971,365-23,979,828
(GRCh38/hg38)
Size:
8,464 bases
Orientation:
Minus strand
chr22:24,313,554-24,322,660
(GRCh37/hg19)
Size:
9,107 bases
Orientation:
Minus strand

Genomic View for DDT Gene

Genes around DDT on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DDT Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DDT Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DDT Gene

Proteins for DDT Gene

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

    Protein Symbol:
    P30046-DOPD_HUMAN
    Recommended name:
    D-dopachrome decarboxylase
    Protein Accession:
    P30046
    Secondary Accessions:
    • B7Z522
    • O00774
    • O60787
    • Q13534

    Protein attributes for DDT Gene

    Size:
    118 amino acids
    Molecular mass:
    12712 Da
    Quaternary structure:
    • Homotrimer.

    Three dimensional structures from OCA and Proteopedia for DDT Gene

    Alternative splice isoforms for DDT Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DDT Gene

Post-translational modifications for DDT Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for DDT Gene

No data available for DME Specific Peptides for DDT Gene

Domains & Families for DDT Gene

Gene Families for DDT Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for DDT Gene

InterPro:
Blocks:
  • Macrophage migration inhibitory factor
ProtoNet:

Suggested Antigen Peptide Sequences for DDT Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ51263, moderately similar to D-dopachrome decarboxylase (EC 4.1.1.84) (B7Z522_HUMAN)
  • Phenylpyruvate tautomerase II (DOPD_HUMAN)
  • cDNA FLJ76419, highly similar to Homo sapiens D-dopachrome tautomerase (DDT), mRNA (Q53Y51_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P30046

UniProtKB/Swiss-Prot:

DOPD_HUMAN :
  • Belongs to the MIF family.
Family:
  • Belongs to the MIF family.
genes like me logo Genes that share domains with DDT: view

Function for DDT Gene

Molecular function for DDT Gene

UniProtKB/Swiss-Prot Function:
Tautomerization of D-dopachrome with decarboxylation to give 5,6-dihydroxyindole (DHI).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=D-dopachrome + H(+) = 5,6-dihydroxyindole + CO2; Xref=Rhea:RHEA:18441, ChEBI:CHEBI:15378, ChEBI:CHEBI:16526, ChEBI:CHEBI:27404, ChEBI:CHEBI:58782; EC=4.1.1.84;.
GENATLAS Biochemistry:
D-dopachrome tautomerase,converting L-dopachrome into dihydroxyindole,highly homolog to and maybe same as MIF,tightly linked to GSTT2,in head to head disposition

Enzyme Numbers (IUBMB) for DDT Gene

Phenotypes From GWAS Catalog for DDT Gene

Gene Ontology (GO) - Molecular Function for DDT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004167 dopachrome isomerase activity TAS 9480844
GO:0005126 cytokine receptor binding IDA 21817065
GO:0016829 lyase activity IEA --
GO:0033981 D-dopachrome decarboxylase activity IEA --
GO:0050178 phenylpyruvate tautomerase activity IDA 21817065
genes like me logo Genes that share ontologies with DDT: view

Phenotypes for DDT Gene

MGI mutant phenotypes for DDT:
inferred from 1 alleles
GenomeRNAi human phenotypes for DDT:
genes like me logo Genes that share phenotypes with DDT: view

Animal Models for DDT Gene

MGI Knock Outs for DDT:
  • Ddt Ddt<tm1.1(KOMP)Vlcg>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DDT

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for DDT Gene

Localization for DDT Gene

Subcellular locations from UniProtKB/Swiss-Prot for DDT Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DDT gene
Compartment Confidence
extracellular 4
cytosol 4
mitochondrion 3
nucleus 3
plasma membrane 2
cytoskeleton 2
endoplasmic reticulum 2
lysosome 2
peroxisome 1
endosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for DDT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IDA 21817065
GO:0005737 cytoplasm IEA --
GO:0070062 extracellular exosome HDA 19056867
genes like me logo Genes that share ontologies with DDT: view

Pathways & Interactions for DDT Gene

PathCards logo

SuperPathways for DDT Gene

No Data Available

Interacting Proteins for DDT Gene

Gene Ontology (GO) - Biological Process for DDT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0010760 negative regulation of macrophage chemotaxis IDA 21817065
GO:0032760 positive regulation of tumor necrosis factor production IDA 21817065
GO:0042438 melanin biosynthetic process IEA --
GO:0050729 positive regulation of inflammatory response IC 21817065
GO:0070374 positive regulation of ERK1 and ERK2 cascade IGI 21817065
genes like me logo Genes that share ontologies with DDT: view

No data available for Pathways by source and SIGNOR curated interactions for DDT Gene

Drugs & Compounds for DDT Gene

(3) Drugs for DDT Gene - From: ClinicalTrials and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Carbon dioxide Approved, Investigational, Vet_approved Pharma 0
Androgen Antagonists Pharma 339
Androgens Pharma 1470

(4) Additional Compounds for DDT Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
5,6-Dihydroxyindole
  • DHI
  • Dopamine lutine
  • Aminochrome
  • Dopaminochrome
3131-52-0
D-Dopachrome
203000-17-3
genes like me logo Genes that share compounds with DDT: view

Transcripts for DDT Gene

mRNA/cDNA for DDT Gene

3 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DDT

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

No ASD Table

Relevant External Links for DDT Gene

GeneLoc Exon Structure for
DDT

Expression for DDT Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for DDT Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Liver (x7.2).

Protein differential expression in normal tissues from HIPED for DDT Gene

This gene is overexpressed in Gallbladder (15.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for DDT Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DDT

SOURCE GeneReport for Unigene cluster for DDT Gene:

Hs.656723

Evidence on tissue expression from TISSUES for DDT Gene

  • Nervous system(4.9)
  • Liver(4.7)
  • Kidney(4.6)
  • Blood(4.5)
  • Pancreas(4.5)
  • Heart(3)
  • Skin(2.9)
  • Muscle(2.8)
  • Intestine(2.7)
  • Bone marrow(2.7)
  • Spleen(2.6)
  • Lung(2.6)
  • Lymph node(2.5)
  • Stomach(2.5)
  • Adrenal gland(2.4)
  • Eye(2.2)
  • Thyroid gland(2)
genes like me logo Genes that share expression patterns with DDT: view

No data available for Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for DDT Gene

Orthologs for DDT Gene

This gene was present in the common ancestor of chordates.

Orthologs for DDT Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia DDT 31
  • 100 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia LOC100856501 30
  • 86.44 (n)
Cow
(Bos Taurus)
Mammalia DDT 30 31
  • 84.75 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Ddt 30
  • 78.25 (n)
Mouse
(Mus musculus)
Mammalia Ddt 30 17 31
  • 77.4 (n)
OneToMany
Oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 71 (a)
OneToMany
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 65 (a)
OneToMany
Chicken
(Gallus gallus)
Aves DDT 30 31
  • 74.01 (n)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 60 (a)
OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia ddt 30
  • 64.97 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.23562 30
Zebrafish
(Danio rerio)
Actinopterygii ddt 30 31
  • 56.78 (n)
OneToMany
Species where no ortholog for DDT was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • 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)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (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 DDT Gene

ENSEMBL:
Gene Tree for DDT (if available)
TreeFam:
Gene Tree for DDT (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DDT: view image

Paralogs for DDT Gene

Paralogs for DDT Gene

(2) SIMAP similar genes for DDT Gene using alignment to 6 proteins:

  • DOPD_HUMAN
  • B5MC82_HUMAN
  • B7Z522_HUMAN
  • H7C342_HUMAN
  • J3KQ18_HUMAN
  • Q53Y51_HUMAN

Pseudogenes.org Pseudogenes for DDT Gene

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

Variants for DDT Gene

Additional dbSNP identifiers (rs#s) for DDT Gene

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

Variant ID Type Subtype PubMed ID
dgv35n47 CNV loss 21111241
dgv4528n100 CNV gain 25217958
dgv4532n100 CNV gain 25217958
dgv4534n100 CNV loss 25217958
dgv4535n100 CNV gain 25217958
dgv4536n100 CNV loss 25217958
dgv751n67 CNV loss 20364138
dgv8039n54 CNV gain 21841781
dgv826e199 CNV deletion 23128226
esv2421686 OTHER complex 20811451
esv2593346 CNV deletion 19546169
esv2656467 CNV deletion 23128226
esv2656800 CNV deletion 23128226
esv2667916 CNV deletion 23128226
esv2724041 CNV deletion 23290073
esv2724066 CNV deletion 23290073
esv2966013 CNV deletion 24192839
esv3034901 CNV deletion 24192839
esv3557984 CNV deletion 23714750
esv3575443 CNV gain 25503493
esv3575444 CNV gain 25503493
esv3584777 CNV loss 24956385
esv3893452 CNV gain+loss 25118596
esv3893453 CNV loss 25118596
esv3893457 CNV gain 25118596
esv3893461 CNV gain 25118596
esv6716 CNV loss 19470904
esv999560 CNV deletion 20482838
nsv1057737 CNV loss 25217958
nsv1059397 CNV gain 25217958
nsv1063251 CNV gain+loss 25217958
nsv1066891 CNV gain 25217958
nsv1072628 CNV deletion 25765185
nsv1072629 CNV deletion 25765185
nsv1110863 OTHER inversion 24896259
nsv1145372 CNV deletion 24896259
nsv1153441 CNV deletion 26484159
nsv1160735 CNV deletion 26073780
nsv1160736 OTHER complex 26073780
nsv197 CNV deletion 15895083
nsv436348 CNV deletion 17901297
nsv442792 CNV loss 18776908
nsv469844 CNV loss 16826518
nsv471423 CNV gain 19718026
nsv482073 CNV gain 20164927
nsv511075 OTHER complex 20534489
nsv511643 CNV loss 21212237
nsv512650 CNV loss 21212237
nsv526567 CNV gain 19592680
nsv588651 CNV gain 21841781
nsv588669 CNV loss 21841781
nsv7350 OTHER inversion 18451855
nsv829105 CNV loss 20364138
nsv829109 CNV loss 20364138
nsv834155 CNV gain+loss 17160897
nsv953055 CNV deletion 24416366
nsv964607 CNV duplication 23825009
nsv979656 CNV duplication 23825009

Additional Variant Information for DDT Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
DDT

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP and Variation tolerance for DDT Gene

Disorders for DDT Gene

MalaCards: The human disease database

(5) MalaCards diseases for DDT Gene - From: DISEASES

Disorder Aliases PubMed IDs
46,xy sex reversal 8
  • srxy8
46,xy sex reversal
  • 46 xy gonadal dysgenesis
retinitis pigmentosa 49
  • rp49
hemochromatosis type 2
  • hfe2
retinitis pigmentosa
  • retinitis pigmentosa 1
- elite association - COSMIC cancer census association via MalaCards
Search DDT in MalaCards View complete list of genes associated with diseases

Additional Disease Information for DDT

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

No data available for UniProtKB/Swiss-Prot and Genatlas for DDT Gene

Publications for DDT Gene

  1. Molecular cloning of human D-dopachrome tautomerase cDNA: N-terminal proline is essential for enzyme activation. (PMID: 9480844) Nishihira J … Sakai M (Biochemical and biophysical research communications 1998) 2 3 4 23
  2. Crystal structure of human D-dopachrome tautomerase, a homologue of macrophage migration inhibitory factor, at 1.54 A resolution. (PMID: 10079069) Sugimoto H … Nishihira J (Biochemistry 1999) 3 4 23
  3. Conserved gene structure and genomic linkage for D-dopachrome tautomerase (DDT) and MIF. (PMID: 9716662) Esumi N … Wistow G (Mammalian genome : official journal of the International Mammalian Genome Society 1998) 3 4 23
  4. Structure and organization of the human theta-class glutathione S-transferase and D-dopachrome tautomerase gene complex. (PMID: 9729470) Coggan M … Board P (The Biochemical journal 1998) 2 3 23
  5. D-dopachrome tautomerase (D-DT or MIF-2): doubling the MIF cytokine family. (PMID: 22507380) Merk M … Bucala R (Cytokine 2012) 2 3

Products for DDT Gene

Sources for DDT Gene