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Aliases for DCT Gene

Aliases for DCT Gene

  • Dopachrome Tautomerase 2 3 5
  • L-Dopachrome Delta-Isomerase 3 4
  • Dopachrome Delta-Isomerase 2 3
  • Tyrosine-Related Protein 2 2 3
  • L-Dopachrome Isomerase 2 3
  • EC 5.3.3.12 4 56
  • TYRP2 3 4
  • TRP-2 3 4
  • TRP2 3 4
  • DT 3 4
  • Dopachrome Tautomerase (Dopachrome Delta-Isomerase, Tyrosine-Related Protein 2) 3
  • Tyrosinase Related Protein-2 3
  • Tyrosinase-Related Protein 2 4
  • L-Dopachrome Tautomerase 3

External Ids for DCT Gene

Previous HGNC Symbols for DCT Gene

  • TYRP2

Previous GeneCards Identifiers for DCT Gene

  • GC13M093451
  • GC13M089476
  • GC13M093926
  • GC13M092789
  • GC13M093889
  • GC13M095091
  • GC13M075688

Summaries for DCT Gene

GeneCards Summary for DCT Gene

DCT (Dopachrome Tautomerase) is a Protein Coding gene. Diseases associated with DCT include Microphthalmia and Hermansky-Pudlak Syndrome 3. Among its related pathways are Phenylalanine metabolism and Neural Crest Differentiation. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and dopachrome isomerase activity. An important paralog of this gene is TYRP1.

UniProtKB/Swiss-Prot for DCT Gene

  • Catalyzes the conversion of L-dopachrome into 5,6-dihydroxyindole-2-carboxylic acid (DHICA) (PubMed:8306979). Involved in regulating eumelanin and phaeomelanin levels.

Gene Wiki entry for DCT Gene

Additional gene information for DCT Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DCT Gene

Genomics for DCT Gene

GeneHancer (GH) Regulatory Elements for DCT Gene

Promoters and enhancers for DCT Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH13I094548 Enhancer 1.3 Ensembl ENCODE 562.5 +0.8 810 2.5 HDGF SMAD1 ARNT ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 DCT TRF-GAA1-5 GC13M094348
GH13I094479 Promoter/Enhancer 0.8 EPDnew ENCODE 550.2 +70.6 70576 0.1 EZH2 DCT TRF-GAA1-5 GC13M094348
GH13I094545 Enhancer 0.4 ENCODE 17.3 +4.0 4029 1.1 SCRT2 MAFK DCT TRF-GAA1-5 GC13M094348
GH13I094419 Enhancer 0.5 ENCODE 10.9 +130.7 130663 0.1 FOSL1 ATF4 EBF1 CEBPG ETV6 PRDM10 GABPA DCT GC13M094348 TRF-GAA1-5
GH13I094432 Enhancer 0.8 ENCODE 4.9 +117.0 116958 1.5 HDAC1 RAD21 TCF12 GATA2 ZSCAN5C ATF7 CEBPB ZEB2 NFIL3 ATF4 DCT GC13M094348 TRF-GAA1-5
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around DCT on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the DCT gene promoter:

Genomic Locations for DCT Gene

Genomic Locations for DCT Gene
chr13:94,436,808-94,550,265
(GRCh38/hg38)
Size:
113,458 bases
Orientation:
Minus strand
chr13:95,089,558-95,131,936
(GRCh37/hg19)

Genomic View for DCT Gene

Genes around DCT on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for DCT Gene

Proteins for DCT Gene

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

    Protein Symbol:
    P40126-TYRP2_HUMAN
    Recommended name:
    L-dopachrome tautomerase
    Protein Accession:
    P40126
    Secondary Accessions:
    • Q09GT4

    Protein attributes for DCT Gene

    Size:
    519 amino acids
    Molecular mass:
    59145 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    • Tyrosinase, TYRP1 and DCT/TYRP2 may form a multienzyme complex.

    Three dimensional structures from OCA and Proteopedia for DCT Gene

    Alternative splice isoforms for DCT Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DCT Gene

Selected DME Specific Peptides for DCT Gene

P40126:
  • YNMVPFFPPVTN
  • HSFLNGT
  • HPDYVITTQHWLGLLGPNGT
  • AIDFSHQGPAFVTWHRYHLL
  • ELAPIGHNR
  • SFRNALEGF
  • FVWLHYYSVRDTLLGPGRP
  • CTGNFAGYNCG

Post-translational modifications for DCT Gene

  • Glycosylated.
  • Glycosylation at Asn170, posLast=178178, Asn237, posLast=300300, Asn342, and posLast=377377
  • Modification sites at PhosphoSitePlus

Domains & Families for DCT Gene

Gene Families for DCT Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Predicted membrane proteins

Protein Domains for DCT Gene

Graphical View of Domain Structure for InterPro Entry

P40126

UniProtKB/Swiss-Prot:

TYRP2_HUMAN :
  • Belongs to the tyrosinase family.
Family:
  • Belongs to the tyrosinase family.
genes like me logo Genes that share domains with DCT: view

Function for DCT Gene

Molecular function for DCT Gene

GENATLAS Biochemistry:
DOPAchrome tautomerase
UniProtKB/Swiss-Prot CatalyticActivity:
L-dopachrome = 5,6-dihydroxyindole-2-carboxylate.
UniProtKB/Swiss-Prot Function:
Catalyzes the conversion of L-dopachrome into 5,6-dihydroxyindole-2-carboxylic acid (DHICA) (PubMed:8306979). Involved in regulating eumelanin and phaeomelanin levels.

Enzyme Numbers (IUBMB) for DCT Gene

Phenotypes From GWAS Catalog for DCT Gene

Gene Ontology (GO) - Molecular Function for DCT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004167 dopachrome isomerase activity ISS --
GO:0005507 copper ion binding TAS 8206391
GO:0016491 oxidoreductase activity TAS --
GO:0016853 isomerase activity IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with DCT: view
genes like me logo Genes that share phenotypes with DCT: view

Animal Models for DCT Gene

MGI Knock Outs for DCT:
  • Dct tm1b(KOMP)Mbp

Clone Products

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

Localization for DCT Gene

Subcellular locations from UniProtKB/Swiss-Prot for DCT Gene

Melanosome membrane; Single-pass type I membrane protein. Melanosome. Note=Proper trafficking to melanosome is regulated by SGSM2, ANKRD27, RAB9A, RAB32 and RAB38. {ECO:0000250 UniProtKB:P29812}.

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 DCT gene
Compartment Confidence
cytosol 5
plasma membrane 3
extracellular 2
nucleus 2
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
lysosome 1

Gene Ontology (GO) - Cellular Components for DCT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol ISS,IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane TAS,IEA --
GO:0033162 melanosome membrane TAS --
genes like me logo Genes that share ontologies with DCT: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for DCT Gene

Pathways & Interactions for DCT Gene

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

Pathways by source for DCT Gene

1 BioSystems pathway for DCT Gene

UniProtKB/Swiss-Prot P40126-TYRP2_HUMAN

  • Pathway: Pigment biosynthesis; melanin biosynthesis.

Interacting Proteins for DCT Gene

Gene Ontology (GO) - Biological Process for DCT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002052 positive regulation of neuroblast proliferation IEA --
GO:0006583 melanin biosynthetic process from tyrosine IEA,ISS --
GO:0008152 metabolic process IEA --
GO:0008544 epidermis development TAS 8206391
GO:0021847 ventricular zone neuroblast division IEA --
genes like me logo Genes that share ontologies with DCT: view

No data available for SIGNOR curated interactions for DCT Gene

Drugs & Compounds for DCT Gene

(18) Drugs for DCT Gene - From: ClinicalTrials and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Bevacizumab Approved, Investigational Pharma VEGF antagonist, Therapeutic Antibodies, Vascular endothelial growth factor (VEGF) and VEGF receptor (VEGFR) inhibitors 2087
Ranibizumab Approved Pharma 502
Angiogenesis Inhibitors Pharma 4399
Angiogenesis Modulating Agents Pharma 4324

(15) Additional Compounds for DCT Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
5,6-Dihydroxyindole
  • Aminochrome
  • DHI
  • Dopaminochrome
3131-52-0
l-dopachrome
  • 2-L-Carboxy-2,3-dihydroindole-5,6-quinone
  • L-Dopachrome
89762-39-0
5,6-Dihydroxyindole-2-carboxylic acid
  • 5,6-Dhica
  • 5,6-Dihydroxy-1H-indole-2-carboxylate
  • 5,6-Dihydroxy-1H-indole-2-carboxylic acid
  • 5,6-Dihydroxy-2-indolecarboxylate
  • 5,6-Dihydroxy-2-indolecarboxylic acid
4790-08-3
genes like me logo Genes that share compounds with DCT: view

Transcripts for DCT Gene

Unigene Clusters for DCT Gene

Dopachrome tautomerase:
Representative Sequences:

Clone Products

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

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11a · 11b
SP1: - - - -
SP2: - - - - - -
SP3: - -
SP4: -
SP5: -
SP6:
SP7:

Relevant External Links for DCT Gene

GeneLoc Exon Structure for
DCT
ECgene alternative splicing isoforms for
DCT

Expression for DCT Gene

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

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

This gene is overexpressed in Skin - Not Sun Exposed (Suprapubic) (x14.8) and Skin - Sun Exposed (Lower leg) (x14.8).

Protein differential expression in normal tissues from HIPED for DCT Gene

This gene is overexpressed in Urine (69.0).

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



Protein tissue co-expression partners for DCT Gene

NURSA nuclear receptor signaling pathways regulating expression of DCT Gene:

DCT

SOURCE GeneReport for Unigene cluster for DCT Gene:

Hs.301865

Evidence on tissue expression from TISSUES for DCT Gene

  • Skin(4.7)
  • Liver(4)
  • Eye(2.8)
  • Spleen(2.6)
  • Lymph node(2.5)
  • Blood(2)
genes like me logo Genes that share expression patterns with DCT: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for DCT Gene

Orthologs for DCT Gene

This gene was present in the common ancestor of chordates.

Orthologs for DCT Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DCT 33 34
  • 96.52 (n)
cow
(Bos Taurus)
Mammalia DCT 33 34
  • 85.94 (n)
dog
(Canis familiaris)
Mammalia DCT 33 34
  • 85.43 (n)
rat
(Rattus norvegicus)
Mammalia Dct 33
  • 83.08 (n)
mouse
(Mus musculus)
Mammalia Dct 33 16 34
  • 82.66 (n)
oppossum
(Monodelphis domestica)
Mammalia DCT 34
  • 75 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DCT 34
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves DCT 33 34
  • 70.91 (n)
lizard
(Anolis carolinensis)
Reptilia DCT 34
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dct 33
  • 68.64 (n)
Str.15440 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.12540 33
zebrafish
(Danio rerio)
Actinopterygii dct 33 34
  • 63.3 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 49 (a)
OneToMany
CSA.6982 34
  • 49 (a)
OneToMany
-- 34
  • 46 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.236 33
Species where no ortholog for DCT was found in the sources mined by GeneCards:
  • 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)
  • 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 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 DCT Gene

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

Paralogs for DCT Gene

Paralogs for DCT Gene

(3) SIMAP similar genes for DCT Gene using alignment to 2 proteins:

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

Variants for DCT Gene

Sequence variations from dbSNP and Humsavar for DCT Gene

SNP ID Clin Chr 13 pos Variation AA Info Type
rs1000022877 -- 94,479,743(-) G/A genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000060638 -- 94,450,597(-) G/T intron_variant
rs1000082468 -- 94,528,080(-) G/T genic_upstream_transcript_variant, intron_variant
rs1000112866 -- 94,517,316(-) C/T genic_upstream_transcript_variant, intron_variant
rs1000192577 -- 94,515,035(-) A/G genic_upstream_transcript_variant, intron_variant

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

Variant ID Type Subtype PubMed ID
esv34004 CNV loss 18971310
nsv1133 CNV insertion 18451855

Variation tolerance for DCT Gene

Residual Variation Intolerance Score: 40.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.91; 48.79% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DCT Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for DCT Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
microphthalmia
  • microphthalmos
hermansky-pudlak syndrome 3
  • albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells
- elite association - COSMIC cancer census association via MalaCards
Search DCT in MalaCards View complete list of genes associated with diseases

Additional Disease Information for DCT

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

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

Publications for DCT Gene

  1. Molecular characterization of a human tyrosinase-related-protein-2 cDNA. Patterns of expression in melanocytic cells. (PMID: 8306979) Bouchard B … Dubertret L (European journal of biochemistry 1994) 2 3 4 22 58
  2. Pre-existing immunity to tyrosinase-related protein (TRP)-2, a new TRP-2 isoform, and the NY-ESO-1 melanoma antigen in a patient with a dramatic response to immunotherapy. (PMID: 11777994) Khong HT … Rosenberg SA (Journal of immunology (Baltimore, Md. : 1950) 2002) 3 4 22 58
  3. Chromosomal structure of the human TYRP1 and TYRP2 loci and comparison of the tyrosinase-related protein gene family. (PMID: 8530077) Sturm RA … Dunn IS (Genomics 1995) 3 4 22 58
  4. Cloning of the human DOPAchrome tautomerase/tyrosinase-related protein 2 gene and identification of two regulatory regions required for its pigment cell-specific expression. (PMID: 7929451) Yokoyama K … Shibahara S (The Journal of biological chemistry 1994) 3 4 22 58
  5. Molecular cloning and functional analysis of a cDNA coding for human DOPAchrome tautomerase/tyrosinase-related protein-2. (PMID: 8148378) Yokoyama K … Shibahara S (Biochimica et biophysica acta 1994) 3 4 22 58

Products for DCT Gene

Sources for DCT Gene

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