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 Tautomerase 3 4
  • L-Dopachrome Isomerase 2 3
  • EC 5.3.3.12 4 51
  • TRP-2 3 4
  • TYRP2 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
  • DCT 5

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 Amelanotic Melanoma and Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1. Among its related pathways are Neural Crest Differentiation and Aldosterone synthesis and secretion. 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 Summary 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

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

Genomics for DCT Gene

GeneHancer (GH) Regulatory Elements Pubs

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
GH13J094548 Promoter/Enhancer 1.7 EPDnew ENCODE CraniofacialAtlas 612.4 0.0 -49 2.5 BRCA1 HNRNPL GATAD2A CTCF TEAD4 PRDM10 ZNF629 IKZF1 KDM1A ZNF692 DCT TRF-GAA1-5 lnc-GPR180-11 lnc-TGDS-1 piR-43773-002 GPR180 TGDS
GH13J094479 Promoter/Enhancer 1.2 EPDnew Ensembl ENCODE 600.2 +68.4 68405 3.2 JUND BRCA1 MGA CEBPB EZH2 FOSL1 CEBPG POLR2A BHLHE40 SPI1 DCT TGDS lnc-TGDS-2 lnc-DCT-1
GH13J094500 Promoter 0.4 EPDnew 611.6 +49.1 49055 0.1 L3MBTL2 DCT lnc-DCT-1 piR-55036-030
GH13J094545 Enhancer 0.6 Ensembl ENCODE 17.5 +3.1 3105 1.4 TEAD4 SCRT2 MAFF MAFK DCT lnc-TGDS-1 piR-55036-030
GH13J094419 Enhancer 0.7 Ensembl ENCODE 10.9 +129.8 129805 2 JUND CEBPB FOS GABPA FOSL1 MAFK EBF1 ATF4 CEBPG ATF3 DCT RF00998-039 lnc-DCT-11
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

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

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

Top Transcription factor binding sites by QIAGEN in the DCT gene promoter:
  • Chx10
  • CUTL1
  • FOXO4
  • HSF1 (long)
  • HSF1short
  • ISGF-3
  • LCR-F1
  • PPAR-gamma1
  • PPAR-gamma2
  • SRY

Genomic Locations for DCT Gene

Genomic Locations for DCT Gene
chr13:94,436,811-94,549,406
(GRCh38/hg38)
Size:
112,596 bases
Orientation:
Minus strand
chr13:95,089,558-95,131,936
(GRCh37/hg19)
Size:
42,379 bases
Orientation:
Minus strand

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, Asn178, Asn237, Asn300, Asn342, and Asn377
  • 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

InterPro:
Blocks:
  • Tyrosinase copper-binding domain signature
ProtoNet:

Suggested Antigen Peptide Sequences for DCT Gene

GenScript: Design optimal peptide antigens:
  • Tyrosinase-related protein-2 (O75767_HUMAN)
  • DCT (Q0PK43_HUMAN)
  • Tyrosinase related protein-2 (Q9NQD7_HUMAN)
  • Tyrosinase-related protein-2 (Q9NQD8_HUMAN)
  • Tyrosinase-related protein 2 (TYRP2_HUMAN)

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

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.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=L-dopachrome = 5,6-dihydroxyindole-2-carboxylate; Xref=Rhea:RHEA:13041, ChEBI:CHEBI:16875, ChEBI:CHEBI:57509; EC=5.3.3.12; Evidence={ECO:0000250|UniProtKB:P29812};.
GENATLAS Biochemistry:
DOPAchrome tautomerase

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 IBA,ISS --
GO:0005507 copper ion binding TAS 8206391
GO:0016491 oxidoreductase activity IEA --
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 Dct<tm1b(KOMP)Mbp>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

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

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
plasma membrane 5
cytosol 5
extracellular 3
nucleus 3
cytoskeleton 2
mitochondrion 2
endoplasmic reticulum 2
endosome 2
lysosome 2
golgi apparatus 2
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (3)
  • Vesicles (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for DCT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IEA,ISS --
GO:0005886 plasma membrane IDA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane TAS,IEA --
genes like me logo Genes that share ontologies with DCT: view

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.

SIGNOR curated interactions for DCT Gene

Is activated by:

Gene Ontology (GO) - Biological Process for DCT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002052 positive regulation of neuroblast proliferation IBA 21873635
GO:0006583 melanin biosynthetic process from tyrosine IBA,ISS --
GO:0008544 epidermis development TAS 8206391
GO:0021847 ventricular zone neuroblast division IBA 21873635
GO:0042438 melanin biosynthetic process TAS --
genes like me logo Genes that share ontologies with DCT: view

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 2368
Ranibizumab Approved Pharma 546
Angiogenesis Inhibitors Pharma 4526
Antineoplastic Agents, Immunological Pharma 8762

(15) Additional Compounds for DCT 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
l-dopachrome
  • 2-L-Carboxy-2,3-dihydroindole-5,6-quinone
89762-39-0
5,6-Dihydroxyindole-2-carboxylic acid
  • 5,6-DHICA
  • 5,6-Dihydroxy-2-indolecarboxylic acid
  • 5,6-Dihydroxy-2-indolylcarboxylic acid
  • 5,6-Dihydroxyindole-2-carboxylate
  • DHI2c
4790-08-3
genes like me logo Genes that share compounds with DCT: view

Transcripts for DCT Gene

mRNA/cDNA for DCT Gene

7 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
5 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 DCT

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

Expression for DCT Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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

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

SOURCE GeneReport for Unigene cluster for DCT Gene:

Hs.301865

Evidence on tissue expression from TISSUES for DCT Gene

  • Skin(4.7)
  • Liver(4.4)
  • Eye(3.3)
  • Blood(2.9)
  • Spleen(2.9)
  • Lymph node(2.8)
  • Nervous system(2.7)
  • Bone marrow(2.5)
  • Heart(2.5)
  • Kidney(2.3)
  • Intestine(2.1)
  • Muscle(2.1)
  • Lung(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 30 31
  • 96.52 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia DCT 30 31
  • 85.94 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia DCT 30 31
  • 85.43 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Dct 30
  • 83.08 (n)
Mouse
(Mus musculus)
Mammalia Dct 30 17 31
  • 82.66 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia DCT 31
  • 75 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia DCT 31
  • 72 (a)
OneToOne
Chicken
(Gallus gallus)
Aves DCT 30 31
  • 70.91 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia DCT 31
  • 68 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia dct 30
  • 68.64 (n)
Str.15440 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.12540 30
Zebrafish
(Danio rerio)
Actinopterygii dct 30 31
  • 63.3 (n)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 49 (a)
OneToMany
CSA.6982 31
  • 49 (a)
OneToMany
-- 31
  • 46 (a)
OneToMany
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.236 30
Species where no ortholog for DCT 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 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)
Aminode:
Evolutionary constrained regions (ECRs) for DCT: view image

Paralogs for DCT Gene

Paralogs for DCT Gene

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

  • TYRP2_HUMAN
  • Q0PK43_HUMAN
genes like me logo Genes that share paralogs with DCT: view

Variants for DCT Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DCT Gene

SNP ID Clinical significance and condition Chr 13 pos Variation AA Info Type
709290 Benign: not provided 94,465,672(-) C/T MISSENSE_VARIANT,FIVE_PRIME_UTR_VARIANT
717314 Benign: not provided 94,468,999(-) G/A SYNONYMOUS_VARIANT,FIVE_PRIME_UTR_VARIANT,INTRON_VARIANT
730602 Likely Benign: not provided 94,468,832(-) T/C MISSENSE_VARIANT,FIVE_PRIME_UTR_VARIANT,INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for DCT Gene

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

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

- 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
Open Targets Platform
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 23
  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 23
  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 23
  4. 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 23
  5. Sequence of the human dopachrome tautomerase-encoding TRP-2 cDNA. (PMID: 8206391) Cassady JL … Sturm RA (Gene 1994) 3 4 23

Products for DCT Gene

Sources for DCT Gene