DCT (dopachrome tautomerase)

Gene

• Entrez ID: 1638
• Gene name: Dopachrome tautomerase
• Gene symbol: DCT
• Synonyms (NCBI Gene): OCA8, TRP-2, TYRP2
• Chromosome: 13
• Chromosome location: 13q32.1

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT2210008	hsa-miR-1185	CLIP-seq
MIRT2210009	hsa-miR-3159	CLIP-seq
MIRT2210010	hsa-miR-3605-5p	CLIP-seq
MIRT2210011	hsa-miR-3679-5p	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
ESR1	Activation	15892717
MITF	Activation	15892717
OTX2	Unknown	12559959
SOX9	Unknown	17702866

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002052	Process	Positive regulation of neuroblast proliferation	IBA
GO:0002052	Process	Positive regulation of neuroblast proliferation	IEA
GO:0004167	Function	Dopachrome isomerase activity	IBA
GO:0004167	Function	Dopachrome isomerase activity	IEA
GO:0004167	Function	Dopachrome isomerase activity	ISS
GO:0005507	Function	Copper ion binding	TAS	8206391
GO:0005515	Function	Protein binding	IPI	28842328, 32296183
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	ISS
GO:0005886	Component	Plasma membrane	IDA
GO:0006583	Process	Melanin biosynthetic process from tyrosine	IBA
GO:0006583	Process	Melanin biosynthetic process from tyrosine	IEA
GO:0006583	Process	Melanin biosynthetic process from tyrosine	ISS
GO:0006583	Process	Melanin biosynthetic process from tyrosine	TAS	8206391
GO:0007405	Process	Neuroblast proliferation	IEA
GO:0008544	Process	Epidermis development	TAS	8206391
GO:0009637	Process	Response to blue light	IDA	28842328
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	TAS	8206391
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016853	Function	Isomerase activity	IEA
GO:0021847	Process	Ventricular zone neuroblast division	IBA
GO:0021847	Process	Ventricular zone neuroblast division	IEA
GO:0033162	Component	Melanosome membrane	IEA
GO:0033162	Component	Melanosome membrane	TAS
GO:0042438	Process	Melanin biosynthetic process	IEA
GO:0042438	Process	Melanin biosynthetic process	IEA
GO:0042470	Component	Melanosome	IBA
GO:0042470	Component	Melanosome	IEA
GO:0042470	Component	Melanosome	ISS
GO:0043473	Process	Pigmentation	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048066	Process	Developmental pigmentation	IBA
GO:0048066	Process	Developmental pigmentation	IEA
GO:0048468	Process	Cell development	IEA

Other IDs

• MIM: 191275
• HGNC: 2709
• e!Ensembl: ENSG00000080166

Protein

• UniProt ID: P40126
• Protein name: L-dopachrome tautomerase (DCT) (DT) (EC 5.3.3.12) (L-dopachrome Delta-isomerase) (Tyrosinase-related protein 2) (TRP-2) (TRP2)
• Protein function: Plays a role in melanin biosynthesis (PubMed:33100333). Catalyzes the conversion of L-dopachrome into 5,6-dihydroxyindole-2-carboxylic acid (DHICA).
• PDB: 4HX1
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00264	Tyrosinase	179 → 409	Common central domain of tyrosinase	Domain

• Sequence:

  MSPLWWGFLLSCLGCKILPGAQGQFPRVCMTVDSLVNKECCPRLGAESANVCGSQQGRGQ
  CTEVRADTRPWSGPYILRNQDDRELWPRKFFHRTCKCTGNFAGYNCGDCKFGWTGPNCER
  KKPPVIRQNIHSLSPQEREQFLGALDLAKKRVHPDYVITTQHWLGLLGPNGTQPQFANCS
  VYDFFVWLHYYSVRDTLLGPGRPYRAIDFSHQGPAFVTWHRYHLLCLERDLQRLIGNESF
  ALPYWNFATGRNECDVCTDQLFGAARPDDPTLISRNSRFSSWETVCDSLDDYNHLVTLCN
  GTYEGLLRRNQMGRNSMKLPTLKDIRDCLSLQKFDNPPFFQNSTFSFRNALEGFDKADGT
  LDSQVMSLHNLVHSFLNGTNALPHSAANDPIFVVLHSFTDAIFDEWMKRFNPPADAWPQE
  LAPIGHNRMYNMVPFFPPVTNEELFLTSDQLGYSYAIDLPVSVEETPGWPTTLLVVMGTL
  VALVGLFVLLAFLQYRRLRKGYTPLMETHLSSKRYTEEA

• Sequence length: 519

Pathways

KEGG:

Tyrosine metabolism
Metabolic pathways
Melanogenesis

Reactome:

Melanin biosynthesis

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Albinism	Likely pathogenic; Pathogenic	rs370729240, rs1885297366, rs1882493359	RCV001270365 RCV001270366 RCV001270367	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Oculocutaneous albinism type 8	Pathogenic; Likely pathogenic	rs1885298359, rs201692579, rs764655568, rs758102115, rs370729240, rs1885297366, rs1882493359	RCV001678579 RCV001678580 RCV001678581 RCV004579630 RCV001290117 RCV001290119 RCV001290118	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Age related macular degeneration 7	association	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DCT-related disorder	Uncertain significance; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MACULAR DEGENERATION, AGE-RELATED, 7	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OCULOCUTANEOUS ALBINISM, TYPE VIII	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PELVIC ORGAN PROLAPSE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Albinism	Albinism	Pubtator	35163231	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Albinism	Albinism	BEFREE	8433006		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Albinism Oculocutaneous	Oculocutaneous albinism	Pubtator	39951296	Associate	★☆☆☆☆ Found in Text Mining only
Anaplastic thyroid carcinoma	Anaplastic thyroid cancer	BEFREE	29123502		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	9328128		★☆☆☆☆ Found in Text Mining only
Bartter Disease	Bartter syndrome	BEFREE	27906863		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	19471308	Associate	★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	6965910		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	30255248		★☆☆☆☆ Found in Text Mining only
dowling-degos disease	Dowling-Degos Disease	BEFREE	16371896, 27798555		★☆☆☆☆ Found in Text Mining only
Frontotemporal dementia	Frontotemporal dementia	BEFREE	30545478		★☆☆☆☆ Found in Text Mining only
Gingival Diseases	Gingival diseases	Pubtator	31743516	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	12944987, 17004103		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	9176405	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	12843792, 12944987, 17004103		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	12843792, 22534618		★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves Disease	BEFREE	9328128		★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	BEFREE	31118899		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	31118899		★☆☆☆☆ Found in Text Mining only
Hypopigmentation disorder	Hypopigmentation Disorder	BEFREE	10728600, 23104352, 9856813		★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral Disc Degeneration	BEFREE	16133074, 16371896, 18246003, 26342701		★☆☆☆☆ Found in Text Mining only
Intervertebral disc disorder	Intervertebral Disc Disorder	BEFREE	24636772		★☆☆☆☆ Found in Text Mining only
Langer-Giedion Syndrome	Langer-Giedion Syndrome	BEFREE	3594935		★☆☆☆☆ Found in Text Mining only
Lumbar disc disease	Lumbar Disc Disease	BEFREE	16133074, 17024315, 18080148, 27798555		★☆☆☆☆ Found in Text Mining only
Malignant Glioma	Glioma	BEFREE	12843792		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	29778982		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	10078966, 10596909, 10728600, 10779556, 10861482, 10886507, 11095412, 11471202, 11779404, 12543800, 14712208, 15235388, 17332361, 17986862, 18204435, 18807035, 18989352, 20844763, 21152437, 22428979, 24475287, 24709887, 25346513, 27053106, 27863995, 28273716, 28537465, 28666759, 29249397, 29296525, 29355622, 29778982, 30005865, 30282011, 30764534, 31460428, 31593795, 8148378, 8617263, 9743519, 9856813, 9973437		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	10886507, 11471202, 24475287, 25965393, 26239596, 27053106, 35181301, 7929451, 9176405, 9565352	Associate	★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	LHGDN	15856458, 18206123		★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	BEFREE	22534618		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	Pubtator	35577105	Associate	★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	Pubtator	11886515	Associate	★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	BEFREE	29621941, 31322203		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10861482, 11779404, 12843792, 17004103, 17027283, 17986862, 23104352, 24349329, 24709887, 27053106, 28104440, 28273716, 28811978, 28992509, 29263161, 29355622, 29778982, 30005865, 30034625, 30723575, 31460428, 9973437		★☆☆☆☆ Found in Text Mining only
Nephrocalcinosis	Nephrocalcinosis	BEFREE	27906863		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	34436011	Associate	★☆☆☆☆ Found in Text Mining only
Oculocutaneous albinism type 1	Oculocutaneous albinism	Pubtator	35163231	Associate	★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	29123502		★☆☆☆☆ Found in Text Mining only
Pick Disease of the Brain	Pica	BEFREE	30545478		★☆☆☆☆ Found in Text Mining only
Posterior subcapsular cataract	Capsular cataract	BEFREE	28811978		★☆☆☆☆ Found in Text Mining only
Primary sclerosing cholangitis	Sclerosing Cholangitis	BEFREE	28811978		★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	20360305		★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	11180971		★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin neoplasm	Pubtator	22297637	Associate	★☆☆☆☆ Found in Text Mining only
Spondylolisthesis	Spondylolisthesis	BEFREE	21311409		★☆☆☆☆ Found in Text Mining only
Uveomeningoencephalitic Syndrome	Uveomeningoencephalitic syndrome	Pubtator	24991188	Associate	★☆☆☆☆ Found in Text Mining only
Vitiligo	Vitiligo	Pubtator	16946711, 34107850	Associate	★☆☆☆☆ Found in Text Mining only
Vitiligo	Vitiligo	BEFREE	17651944, 19284502, 23104352, 31306558, 9328128, 9856813		★☆☆☆☆ Found in Text Mining only
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)	Vitiligo-associated SYSTEMIC LUPUS ERYTHEMATOSUS	BEFREE	17651944, 19284502, 23104352, 31306558, 9328128, 9856813		★☆☆☆☆ Found in Text Mining only