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Aliases for TYR Gene

Aliases for TYR Gene

  • Tyrosinase 2 3 3 5
  • Oculocutaneous Albinism IA 2 3
  • Tumor Rejection Antigen AB 3 4
  • Monophenol Monooxygenase 3 4
  • EC 4 61
  • 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 Dopamine metabolism and Tyrosine metabolism. GO annotations related to this gene include protein homodimerization activity and oxidoreductase activity. An important paralog of this gene is TYRP1.

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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

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

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:0004497 monooxygenase activity TAS --
GO:0004503 monophenol monooxygenase activity IEA,IDA 11092760
GO:0005507 copper ion binding IMP 11092760
GO:0005515 protein binding IEA,IPI 16162817
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

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for TYR

Flow Cytometry 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:0005634 nucleus IEA --
GO:0005737 cytoplasm IDA 11092760
GO:0005764 lysosome TAS 11092760
GO:0005798 Golgi-associated vesicle TAS 10823941
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:0006583 melanin biosynthetic process from tyrosine TAS 7704033
GO:0006726 eye pigment biosynthetic process TAS 7704033
GO:0007601 visual perception TAS 7704033
GO:0008283 cell proliferation IEA --
GO:0009411 response to UV IEA --
genes like me logo Genes that share ontologies with TYR: view

Drugs & Compounds for TYR Gene

(77) 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
Hydroquinone Approved Pharma Target, inhibitor 36
Mimosine Approved Pharma Target, inhibitor 0
Copper Approved Pharma 166

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • Aminochrome
  • DHI
  • Dopaminochrome
  • 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

(4) ApexBio Compounds for TYR Gene

Compound Action Cas Number
Arbutin 497-76-7
Curcumin Tyrosinase inhibitor 458-37-7
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:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for TYR

Flow Cytometry Products

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).

NURSA nuclear receptor signaling pathways regulating expression of TYR Gene:


SOURCE GeneReport for Unigene cluster for TYR Gene:

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 , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt 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 34
  • 86.2 (n)
  • 87.15 (a)
TYR 35
  • 87 (a)
(Canis familiaris)
Mammalia TYR 34
  • 89.15 (n)
  • 88.44 (a)
TYR 35
  • 88 (a)
(Mus musculus)
Mammalia Tyr 34
  • 84.06 (n)
  • 86.39 (a)
Tyr 16
Tyr 35
  • 86 (a)
(Pan troglodytes)
Mammalia TYR 34
  • 99.62 (n)
  • 99.62 (a)
TYR 35
  • 100 (a)
(Rattus norvegicus)
Mammalia Tyr 34
  • 83.68 (n)
  • 87.33 (a)
(Monodelphis domestica)
Mammalia TYR 35
  • 80 (a)
(Ornithorhynchus anatinus)
Mammalia TYR 35
  • 75 (a)
(Gallus gallus)
Aves TYR 34
  • 72.54 (n)
  • 73.67 (a)
TYR 35
  • 72 (a)
(Anolis carolinensis)
Reptilia TYR 35
  • 74 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia tyr 34
  • 67.81 (n)
  • 69.07 (a)
(Danio rerio)
Actinopterygii tyr 34
  • 61.49 (n)
  • 61.55 (a)
tyr 35
  • 60 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12134 34
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 42 (a)
Species where no ortholog for TYR was found in the sources mined by GeneCards:
  • 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
dgv165n27 CNV loss 19166990
dgv2062n54 CNV gain 21841781
dgv2063n54 CNV loss 21841781
dgv2064n54 CNV loss 21841781
dgv2065n54 CNV loss 21841781
dgv2066n54 CNV loss 21841781
dgv2067n54 CNV loss 21841781
dgv403e212 CNV loss 25503493
dgv686n106 CNV deletion 24896259
esv2660364 CNV deletion 23128226
esv27246 CNV loss 19812545
esv2744880 CNV deletion 23290073
esv32702 CNV gain+loss 17666407
esv3450 CNV loss 18987735
esv3548119 CNV deletion 23714750
esv3579809 CNV loss 25503493
esv3579813 CNV loss 25503493
esv3627164 CNV loss 21293372
esv989571 CNV deletion 20482838
esv996249 CNV loss 20482838
nsv1050341 CNV loss 25217958
nsv1113420 CNV deletion 24896259
nsv1159914 CNV deletion 26073780
nsv39232 CNV deletion 16902084
nsv468781 CNV gain 19166990
nsv469976 CNV gain 18288195
nsv555735 CNV loss 21841781
nsv555743 CNV loss 21841781
nsv555758 CNV loss 21841781
nsv555763 CNV gain+loss 21841781
nsv555764 CNV gain 21841781
nsv555765 CNV loss 21841781
nsv555768 CNV loss 21841781

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

Disorders for TYR Gene

MalaCards: The human disease database

(50) 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
waardenburg syndrome/ocular albinism, digenic
  • waardenburg syndrome/albinism, digenic
albinism, oculocutaneous, type ib
  • oculocutaneous albinism type 1b
melanoma, cutaneous malignant 8
  • melanoma, cutaneous malignant, susceptibility to, 8
- 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 46 65
  2. Genetic determinants of hair, eye and skin pigmentation in Europeans. (PMID: 17952075) Sulem P. … Stefansson K. (Nat. Genet. 2007) 3 4 46 65
  3. Susceptibility and outcome in MS: associations with polymorphisms in pigmentation-related genes. (PMID: 15210908) Partridge J.M. … Hawkins C.P. (Neurology 2004) 3 22 46 65
  4. Prostate cancer risk: associations with ultraviolet radiation, tyrosinase and melanocortin-1 receptor genotypes. (PMID: 11720436) Luscombe C.J. … Strange R.C. (Br. J. Cancer 2001) 3 22 46 65
  5. The tyrosinase gene in gorillas and the albinism of 'Snowflake'. (PMID: 11153699) Martinez-Arias R. … Bertranpetit J. (Pigment Cell Res. 2000) 3 4 22 65

Products for TYR Gene

  • Addgene plasmids for TYR

Sources for TYR Gene

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