DCT

dopachrome tautomerase

Basic information

Region (hg38): 13:94436811-94479682

Previous symbols: [ "TYRP2" ]

Links

ENSG00000080166 ∙ NCBI:1638 ∙ OMIM:191275 ∙ HGNC:2709 ∙ Uniprot:P40126 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• oculocutaneous albinism type 8 (Strong), mode of inheritance: AR

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Oculocutaneous albinism, type VIII	AR	General	Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing	Dermatologic; Ophthalmologic	33100333

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the DCT gene.

• Oculocutaneous albinism type 8 (1 variants)
• Familial multiple polyposis syndrome (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DCT gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous					1	1
missense			39	3	1	43
nonsense	1					1
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	1	0	39	3	2

Highest pathogenic variant AF is 0.0000131

Variants in DCT

This is a list of pathogenic ClinVar variants found in the DCT region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
13-94439905-T-C		Inborn genetic diseases	Uncertain significance (Nov 17, 2022)
13-94439918-T-C		Inborn genetic diseases	Uncertain significance (Jan 04, 2024)
13-94439927-T-G		Inborn genetic diseases	Uncertain significance (Aug 12, 2021)
13-94440051-C-T		Oculocutaneous albinism type 8	Pathogenic (Sep 17, 2021)
13-94440055-C-A		Inborn genetic diseases	Uncertain significance (Jun 29, 2023)
13-94443496-T-C			Uncertain significance (Nov 17, 2023)
13-94443496-TAGTCACTGGAGGGA-T		Oculocutaneous albinism type 8 • Albinism	Pathogenic/Likely pathogenic (Apr 20, 2021)
13-94443535-G-A		Inborn genetic diseases	Uncertain significance (Jul 06, 2021)
13-94443541-G-C		Inborn genetic diseases	Uncertain significance (May 17, 2023)
13-94443547-T-C		Inborn genetic diseases	Uncertain significance (Feb 15, 2023)
13-94443580-G-A		Inborn genetic diseases	Likely benign (Feb 05, 2024)
13-94443596-C-T		Inborn genetic diseases	Uncertain significance (Jul 19, 2023)
13-94443759-T-C		Age related macular degeneration 7	association (-)
13-94445735-G-A		Inborn genetic diseases	Uncertain significance (Sep 29, 2023)
13-94445748-T-C		Inborn genetic diseases	Uncertain significance (Oct 26, 2021)
13-94460093-C-T		Inborn genetic diseases	Uncertain significance (Nov 17, 2022)
13-94460129-C-T		Inborn genetic diseases	Uncertain significance (Feb 06, 2023)
13-94460138-C-A		Inborn genetic diseases	Uncertain significance (Aug 22, 2023)
13-94460145-G-T		Inborn genetic diseases	Uncertain significance (Jun 14, 2023)
13-94460162-T-G		Inborn genetic diseases	Uncertain significance (Dec 28, 2023)
13-94460200-G-T		Inborn genetic diseases	Uncertain significance (Feb 10, 2023)
13-94462026-A-C		Inborn genetic diseases	Uncertain significance (Mar 01, 2023)
13-94462027-G-T		Inborn genetic diseases	Uncertain significance (Apr 09, 2024)
13-94462139-C-T		Inborn genetic diseases	Uncertain significance (Jan 18, 2022)
13-94462177-G-T		Oculocutaneous albinism type 8	Pathogenic (Sep 16, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DCT	protein_coding	protein_coding	ENST00000446125	10	42379

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
7.39e-14	0.121	125586	0	162	125748	0.000644

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.348	326	309	1.06	0.0000170	3612
Missense in Polyphen		143	127.56	1.121		1518
Synonymous	0.672	109	118	0.921	0.00000682	1054
Loss of Function	0.837	23	27.8	0.829	0.00000163	291

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00229	0.00229
Ashkenazi Jewish	0.00	0.00
East Asian	0.00180	0.00180
Finnish	0.00	0.00
European (Non-Finnish)	0.000530	0.000528
Middle Eastern	0.00180	0.00180
South Asian	0.000629	0.000621
Other	0.00131	0.00130

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Catalyzes the conversion of L-dopachrome into 5,6- dihydroxyindole-2-carboxylic acid (DHICA) (PubMed:8306979). Involved in regulating eumelanin and phaeomelanin levels. {ECO:0000269|PubMed:8306979}.
• Pathway: Tyrosine metabolism - Homo sapiens (human);Melanogenesis - Homo sapiens (human);Tyrosinemia, transient, of the newborn;Dopamine beta-hydroxylase deficiency;Disulfiram Action Pathway;Tyrosine Metabolism;Alkaptonuria;Monoamine oxidase-a deficiency (MAO-A);Hawkinsinuria;Tyrosinemia Type I;Neural Crest Differentiation;Metabolism of amino acids and derivatives;Tyrosine metabolism;Metabolism;Melanin biosynthesis;eumelanin biosynthesis (Consensus)

Recessive Scores

• pRec: 0.551

Intolerance Scores

• loftool: 0.114
• rvis_EVS: -0.6
• rvis_percentile_EVS: 18.14

Haploinsufficiency Scores

• pHI: 0.340
• hipred: N
• hipred_score: 0.289
• ghis: 0.549

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.886

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Dct
• Phenotype: vision/eye phenotype; pigmentation phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan)

Gene ontology

• Biological process: positive regulation of neuroblast proliferation;melanin biosynthetic process from tyrosine;epidermis development;ventricular zone neuroblast division;melanin biosynthetic process;developmental pigmentation;cell development;oxidation-reduction process
• Cellular component: cytosol;integral component of membrane;melanosome membrane;melanosome
• Molecular function: dopachrome isomerase activity;copper ion binding;oxidoreductase activity