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Aliases for TYR Gene

Aliases for TYR Gene

  • Tyrosinase 2 3 5
  • Oculocutaneous Albinism IA 2 3
  • Tumor Rejection Antigen AB 3 4
  • Monophenol Monooxygenase 3 4
  • EC 4 63
  • LB24-AB 3 4
  • SK29-AB 3 4
  • OCA1A 3
  • OCAIA 3
  • SHEP3 3
  • CMM8 3
  • OCA1 3
  • ATN 3

External Ids for TYR Gene

Previous GeneCards Identifiers for TYR Gene

  • GC11P091234
  • GC11P090457
  • GC11P089095
  • GC11P088598
  • GC11P088550
  • GC11P088911
  • GC11P085151

Summaries for TYR Gene

Entrez Gene Summary for TYR Gene

  • The enzyme encoded by this gene catalyzes the first 2 steps, and at least 1 subsequent step, in the conversion of tyrosine to melanin. The enzyme has both tyrosine hydroxylase and dopa oxidase catalytic activities, and requires copper for function. Mutations in this gene result in oculocutaneous albinism, and nonpathologic polymorphisms result in skin pigmentation variation. The human genome contains a pseudogene similar to the 3' half of this gene. [provided by RefSeq, Oct 2008]

GeneCards Summary for TYR Gene

TYR (Tyrosinase) is a Protein Coding gene. Diseases associated with TYR include Albinism, Oculocutaneous, Type Ia and Albinism, Oculocutaneous, Type Ib. Among its related pathways are Glucose / Energy Metabolism and (S)-reticuline biosynthesis. GO annotations related to this gene include protein homodimerization activity and oxidoreductase activity. An important paralog of this gene is DCT.

UniProtKB/Swiss-Prot for TYR Gene

  • This is a copper-containing oxidase that functions in the formation of pigments such as melanins and other polyphenolic compounds. Catalyzes the rate-limiting conversions of tyrosine to DOPA, DOPA to DOPA-quinone and possibly 5,6-dihydroxyindole to indole-5,6 quinone.

Gene Wiki entry for TYR Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TYR Gene

Genomics for TYR Gene

Regulatory Elements for TYR Gene

Enhancers for TYR Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around TYR on UCSC Golden Path with GeneCards custom track

Genomic Location for TYR Gene

89,177,452 bp from pter
89,295,759 bp from pter
118,308 bases
Plus strand

Genomic View for TYR Gene

Genes around TYR on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for TYR Gene

Proteins for TYR Gene

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

    Protein Symbol:
    Recommended name:
    Protein Accession:
    Secondary Accessions:
    • Q15675
    • Q15676
    • Q15680
    • Q8TAK4
    • Q9BYY0
    • Q9BZX1

    Protein attributes for TYR Gene

    529 amino acids
    Molecular mass:
    60393 Da
    Name=Cu(2+); Xref=ChEBI:CHEBI:29036;
    Quaternary structure:
    No Data Available
    • Sequence=AAA61241.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAA68756.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for TYR Gene


neXtProt entry for TYR Gene

Proteomics data for TYR Gene at MOPED

Post-translational modifications for TYR Gene

  • Glycosylation at Asn 86, Asn 111, Asn 161, Asn 230, Asn 337, and Asn 371
  • Modification sites at PhosphoSitePlus

Other Protein References for TYR Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for TYR Gene

Protein Domains for TYR Gene

Suggested Antigen Peptide Sequences for TYR Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



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

No data available for Gene Families for TYR Gene

Function for TYR Gene

Molecular function for TYR Gene

GENATLAS Biochemistry:
tyrosinase,copper dependent (monophenol monooxygenase),homologous to mouse albino,melanin production
UniProtKB/Swiss-Prot CatalyticActivity:
2 L-dopa + O(2) = 2 dopaquinone + 2 H(2)O.
UniProtKB/Swiss-Prot CatalyticActivity:
L-tyrosine + O(2) = dopaquinone + H(2)O.
UniProtKB/Swiss-Prot Function:
This is a copper-containing oxidase that functions in the formation of pigments such as melanins and other polyphenolic compounds. Catalyzes the rate-limiting conversions of tyrosine to DOPA, DOPA to DOPA-quinone and possibly 5,6-dihydroxyindole to indole-5,6 quinone.
UniProtKB/Swiss-Prot Induction:
Increased expression after UVB irradiation.

Enzyme Numbers (IUBMB) for TYR Gene

Gene Ontology (GO) - Molecular Function for TYR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004503 monophenol monooxygenase activity IEA,IDA 11092760
GO:0042803 protein homodimerization activity IEA,ISS --
genes like me logo Genes that share ontologies with TYR: view
genes like me logo Genes that share phenotypes with TYR: view

Human Phenotype Ontology for TYR Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TYR Gene

MGI Knock Outs for TYR:

Animal Model Products

No data available for Transcription Factor Targets and HOMER Transcription for TYR Gene

Localization for TYR Gene

Subcellular locations from UniProtKB/Swiss-Prot for TYR Gene

Melanosome membrane; Single-pass type I membrane protein.

Subcellular locations from

Jensen Localization Image for TYR Gene COMPARTMENTS Subcellular localization image for TYR gene
Compartment Confidence
golgi apparatus 5
lysosome 5
vacuole 5
cytosol 3
nucleus 3
plasma membrane 3
cytoskeleton 2
endoplasmic reticulum 2
endosome 2
extracellular 2
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for TYR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol IEA --
genes like me logo Genes that share ontologies with TYR: view

Pathways & Interactions for TYR Gene

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

Pathways by source for TYR Gene

1 Cell Signaling Technology pathway for TYR Gene
1 GeneGo (Thomson Reuters) pathway for TYR Gene

SIGNOR curated interactions for TYR Gene

Is activated by:

Gene Ontology (GO) - Biological Process for TYR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0033280 response to vitamin D IEA --
GO:0034641 cellular nitrogen compound metabolic process TAS --
GO:0042438 melanin biosynthetic process IEA,TAS --
GO:0044281 small molecule metabolic process TAS --
GO:0048538 thymus development IEA --
genes like me logo Genes that share ontologies with TYR: view

Drugs & Compounds for TYR Gene

(72) Drugs for TYR Gene - From: DrugBank, ApexBio, DGIdb, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Monobenzone Approved Pharma inhibitor, Target 0
Azelaic acid Approved Pharma Target, inhibitor 31
Mimosine Approved Pharma Target, inhibitor 0
Dopamine Approved Pharma Full agonist, Agonist 3636
Levodopa Approved Pharma Agonist 374

(94) Additional Compounds for TYR Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • O-Dopaquinone
  • 1,4-Benzoquine
  • 1,4-Benzoquinone
  • 1,4-Cyclohexadiene dioxide
  • 1,4-Cyclohexadienedione
  • 1,4-Diossibenzene
  • 3'-Hydroxy-(S)-N-methylcoclaurine
  • 3'-Hydroxy-N-methyl-(S)-coclaurine
  • 3,4-Dihydroxy-trans-cinnamic acid
  • trans-Caffeate

(3) ApexBio Compounds for TYR Gene

Compound Action Cas Number
Arbutin 497-76-7
Deoxyarbutin 53936-56-4
Dihydroartemisinin 71939-50-9
genes like me logo Genes that share compounds with TYR: view

Transcripts for TYR Gene

mRNA/cDNA for TYR Gene

Unigene Clusters for TYR Gene

Representative Sequences:

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

No ASD Table

Relevant External Links for TYR Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for TYR Gene

mRNA expression in normal human tissues for TYR Gene

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

This gene is overexpressed in Skin - Not Sun Exposed (Suprapubic) (x25.6) and Skin - Sun Exposed (Lower leg) (x22.1).

SOURCE GeneReport for Unigene cluster for TYR Gene Hs.503555

genes like me logo Genes that share expression patterns with TYR: view

Primer Products

No data available for Protein differential expression in normal tissues , Protein expression , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for TYR Gene

Orthologs for TYR Gene

This gene was present in the common ancestor of chordates.

Orthologs for TYR Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia TYR 35
  • 86.2 (n)
  • 87.15 (a)
TYR 36
  • 87 (a)
(Canis familiaris)
Mammalia TYR 35
  • 89.15 (n)
  • 88.44 (a)
TYR 36
  • 88 (a)
(Mus musculus)
Mammalia Tyr 35
  • 84.06 (n)
  • 86.39 (a)
Tyr 16
Tyr 36
  • 86 (a)
(Pan troglodytes)
Mammalia TYR 35
  • 99.62 (n)
  • 99.62 (a)
TYR 36
  • 100 (a)
(Rattus norvegicus)
Mammalia Tyr 35
  • 83.68 (n)
  • 87.33 (a)
(Monodelphis domestica)
Mammalia TYR 36
  • 80 (a)
(Ornithorhynchus anatinus)
Mammalia TYR 36
  • 75 (a)
(Gallus gallus)
Aves TYR 35
  • 72.54 (n)
  • 73.67 (a)
TYR 36
  • 72 (a)
(Anolis carolinensis)
Reptilia TYR 36
  • 74 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia tyr 35
  • 67.81 (n)
  • 69.07 (a)
(Danio rerio)
Actinopterygii tyr 35
  • 61.49 (n)
  • 61.55 (a)
tyr 36
  • 60 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12134 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 42 (a)
Species with no ortholog for TYR:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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 TYR Gene

Gene Tree for TYR (if available)
Gene Tree for TYR (if available)

Paralogs for TYR Gene

Paralogs for TYR Gene

(4) SIMAP similar genes for TYR Gene using alignment to 8 proteins: Pseudogenes for TYR Gene

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

Variants for TYR Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for TYR Gene

Compound heterozygosity for the R402Q polymorphism and a mutant allele of TYR is a common cause of autosomal recessive ocular albinism. The R402Q polymorphism is also found in Waardenburg syndrome type II with ocular albinism (WS2-OA) in association with a deletion in the MITF gene.
Genetic variants in TYR define the skin/hair/eye pigmentation variation locus 3 (SHEP3) [MIM:601800]. Hair, eye and skin pigmentation are among the most visible examples of human phenotypic variation, with a broad normal range that is subject to substantial geographic stratification. In the case of skin, individuals tend to have lighter pigmentation with increasing distance from the equator. By contrast, the majority of variation in human eye and hair color is found among individuals of European ancestry, with most other human populations fixed for brown eyes and black hair.

Sequence variations from dbSNP and Humsavar for TYR Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
VAR_007649 Albinism, oculocutaneous, 1A (OCA1A)
VAR_007650 Albinism, oculocutaneous, 1A (OCA1A)
rs28940878 Albinism, oculocutaneous, 1A (OCA1A) 89,178,078(+) CGGGG(A/G)CAGGA reference, missense
rs61753180 Albinism, oculocutaneous, 1A (OCA1A) 89,178,093(+) CTGTG(A/G)CCAGC reference, missense
VAR_007653 -

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

Variant ID Type Subtype PubMed ID
esv32702 CNV Gain+Loss 17666407
nsv469976 CNV Gain 18288195
nsv468781 CNV Gain 19166990
esv989571 CNV Deletion 20482838
nsv39232 CNV Loss 16902084
esv3450 CNV Deletion 18987735
esv2744880 CNV Deletion 23290073
esv2660364 CNV Deletion 23128226
esv27246 CNV Loss 19812545
esv996249 CNV Loss 20482838
dgv165n27 CNV Loss 19166990

Variation tolerance for TYR Gene

Residual Variation Intolerance Score: 10.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.14; 87.80% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TYR Gene

Human Gene Mutation Database (HGMD)

Disorders for TYR Gene

MalaCards: The human disease database

(44) MalaCards diseases for TYR Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
albinism, oculocutaneous, type ia
  • oculocutaneous albinism type 1
albinism, oculocutaneous, type ib
  • oculocutaneous albinism type 1b
waardenburg syndrome/ocular albinism, digenic
  • waardenburg syndrome/albinism, digenic
melanoma, cutaneous malignant 8
  • melanoma, cutaneous malignant, susceptibility to, 8
ocular albinism with congenital sensorineural deafness
  • waardenburg syndrome type 2 with ocular albinism
- elite association - COSMIC cancer census association via MalaCards
Search TYR in MalaCards View complete list of genes associated with diseases


  • Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100]: An autosomal recessive disorder in which the biosynthesis of melanin pigment is absent in skin, hair, and eyes. It is characterized by complete lack of tyrosinase activity due to production of an inactive enzyme. Patients present with a life-long absence of melanin pigment after birth, and manifest increased sensitivity to ultraviolet radiation with predisposition to skin cancer. Visual anomalies include decreased acuity, nystagmus, strabismus and photophobia. {ECO:0000269 PubMed:10571953, ECO:0000269 PubMed:10671066, ECO:0000269 PubMed:10987646, ECO:0000269 PubMed:11295837, ECO:0000269 PubMed:11858948, ECO:0000269 PubMed:1487241, ECO:0000269 PubMed:15146472, ECO:0000269 PubMed:1642278, ECO:0000269 PubMed:1899321, ECO:0000269 PubMed:1943686, ECO:0000269 PubMed:1970634, ECO:0000269 PubMed:22981120, ECO:0000269 PubMed:2342539, ECO:0000269 PubMed:23504663, ECO:0000269 PubMed:24934919, ECO:0000269 PubMed:7902671, ECO:0000269 PubMed:7955413, ECO:0000269 PubMed:8128955, ECO:0000269 PubMed:8644824, ECO:0000269 PubMed:9259202}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Albinism, oculocutaneous, 1B (OCA1B) [MIM:606952]: An autosomal recessive disorder in which the biosynthesis of melanin pigment is reduced in skin, hair, and eyes. It is characterized by partial lack of tyrosinase activity. Patients have white hair at birth that rapidly turns yellow or blond. They manifest the development of minimal-to-moderate amounts of cutaneous and ocular pigment. Some patients may have with white hair in the warmer areas (scalp and axilla) and progressively darker hair in the cooler areas (extremities). This variant phenotype is due to a loss of tyrosinase activity above 35-37 degrees C. {ECO:0000269 PubMed:10987646, ECO:0000269 PubMed:1900309, ECO:0000269 PubMed:1903591, ECO:0000269 PubMed:8128955}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for TYR

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

No data available for Genatlas for TYR Gene

Publications for TYR Gene

  1. A genomewide association study of skin pigmentation in a South Asian population. (PMID: 17999355) Stokowski R.P. … Cox D.R. (Am. J. Hum. Genet. 2007) 3 4 48 67
  2. Oxazolones: new tyrosinase inhibitors; synthesis and their structure-activity relationships. (PMID: 16750372) Khan K.M. … Choudhary M.I. (Bioorg. Med. Chem. 2006) 23 25 26
  3. A possible mechanism of action for azelaic acid in the human epidermis. (PMID: 2114832) Schallreuter K.U. … Wood J.W. (Arch. Dermatol. Res. 1990) 23 25 26
  4. Tyrosinase gene (TYR) mutations in Chinese patients with oculocutaneous albinism type 1. (PMID: 20447099) Liu J. … Lai T.Y. (Clin. Experiment. Ophthalmol. 2010) 3 23
  5. Inhibition of melanogenesis by tyrosinase siRNA in human melanocytes. (PMID: 19336006) An S.M. … Boo Y.C. (BMB Rep 2009) 3 23

Products for TYR Gene

  • Addgene plasmids for TYR

Sources for TYR Gene