TYR (tyrosinase)

Gene
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
7299
Gene name Gene Name - the full gene name approved by the HGNC.
Tyrosinase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TYR
Synonyms (NCBI Gene) Gene synonyms aliases
ATN, CMM8, OCA1, OCA1A, OCAIA, SHEP3
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11q14.3
Summary Summary of gene provided in NCBI Entrez 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. Mutati
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(5)
SNP ID Visualize variation Clinical significance Consequence
rs61754399 ->T Pathogenic Coding sequence variant, frameshift variant, genic downstream transcript variant, downstream transcript variant
rs281865328 ->C Pathogenic, not-provided Coding sequence variant, frameshift variant, genic downstream transcript variant, downstream transcript variant
rs1402167763 GGTCATGGCT>- Likely-pathogenic Coding sequence variant, frameshift variant, 3 prime UTR variant
rs1555100853 ->T Likely-pathogenic Coding sequence variant, stop gained, 3 prime UTR variant
rs1590909462 G>- Pathogenic Coding sequence variant, frameshift variant, genic downstream transcript variant, downstream transcript variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(11)
miRTarBase ID miRNA Experiments Reference
MIRT733673 hsa-miR-1291 Luciferase reporter assay, qRT-PCR, Western blotting 33318297
MIRT733673 hsa-miR-1291 Luciferase reporter assay, qRT-PCR, Western blotting 33318297
MIRT1465650 hsa-miR-3154 CLIP-seq
MIRT1465651 hsa-miR-3179 CLIP-seq
MIRT2462696 hsa-miR-3120-3p CLIP-seq
Transcription factors
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(5)
Transcription factor Regulation Reference
MITF Activation 10080955;12034359;23872139
MITF Unknown 10587587;12136092;18424413;21910056;22259223;9158138
OTX2 Activation 22259223
SOX9 Unknown 17702866
TFEB Unknown 10707962
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(38)
GO ID Ontology Definition Evidence Reference
GO:0004497 Function Monooxygenase activity IEA
GO:0004503 Function Tyrosinase activity IBA
GO:0004503 Function Tyrosinase activity IDA 11092760
GO:0004503 Function Tyrosinase activity IEA
GO:0005507 Function Copper ion binding IMP 11092760
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
606933 12442 ENSG00000077498
Protein
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID P14679
Protein name Tyrosinase (EC 1.14.18.1) (LB24-AB) (Monophenol monooxygenase) (SK29-AB) (Tumor rejection antigen AB)
Protein function This is a copper-containing oxidase that functions in the formation of pigments such as melanins and other polyphenolic compounds. Catalyzes the initial and rate limiting step in the cascade of reactions leading to melanin production from tyrosi
PDB 7RK7
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00264 Tyrosinase 170 → 403 Common central domain of tyrosinase Domain
Sequence 
MLLAVLYCLLWSFQTSAGHFPRACVSSKNLMEKECCPPWSGDRSPCGQLSGRGSCQNILL
SNAPLGPQFPFTGVDDRESWPSVFYNRTCQCSGNFMGFNCGNCKFGFWGPNCTERRLLVR
RNIFDLSAPEKDKFFAYLTLAKHTISSDYVIPIGTYGQMKNGSTPMFNDINIYDLFVWMH
YYVSMDALLGGSEIWRDIDFAHEAPAFLPWHRLFLLRWEQEIQKLTGDENFTIPYWDWRD
AEKCDICTDEYMGGQHPTNPNLLSPASFFSSWQIVCSRLEEYNSHQSLCNGTPEGPLRRN
PGNHDKSRTPRLPSSADVEFCLSLTQYESGSMDKAANFSFRNTLEGFASPLTGIADASQS
SMHNALHIYMNGTMSQVQGSANDPIFLLHHAFVDSIFEQWLRRHRPLQEVYPEANAPIGH
NRESYMVPFIPLYRNGDFFISSKDLGYDYSYLQDSDPDSFQDYIKSYLEQASRIWSWLLG
AAMVGAVLTALLAGLVSLLCRHKRKQLPEEKQPLLMEKEDYHSLYQSHL
Sequence length 529
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Tyrosine metabolism
Metabolic pathways
Melanogenesis 		  Melanin biosynthesis
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (4)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Albinism albinism rs28940876 N/A
oculocutaneous albinism Oculocutaneous albinism rs104894313, rs61754399, rs1482829698, rs1031268531, rs28940876, rs28940879, rs28940881, rs748901196, rs61754381, rs773970123, rs61754375, rs62645914, rs104894314, rs61754387, rs61753254
View all (6 more)		 N/A
Oculocutaneous albinism oculocutaneous albinism type 1b rs540911439, rs61754393, rs28940881, rs61753178, rs28940876, rs61753180, rs61754381, rs1289685376, rs104894314, rs61753185, rs104894317, rs104894313, rs61754399 N/A
Ocular albinism ocular albinism rs1057518763 N/A
Show/Hide Unknown Diseases (7)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Actinic keratosis Actinic keratosis N/A N/A GWAS
Carcinoma Basal cell carcinoma, Squamous cell carcinoma N/A N/A GWAS
Insomnia Insomnia N/A N/A GWAS
Melanoma Melanoma N/A N/A GWAS
Show/Hide Text Mining Associations (68)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
46 XY female Associate 1910093
Albinism Associate 14685142, 1910093, 21541274, 24392141, 27640074, 27775880, 35488210, 35803923, 35933957, 37460203, 38232104, 39349469, 6770679
Albinism Ocular Associate 21541274, 26167114, 28667292
Albinism Oculocutaneous Associate 10321549, 10766867, 11179026, 1429711, 14961451, 15451, 16056219, 16417222, 1676041, 1711223, 1832718, 1899321, 1900307, 1903591, 1905879
View all (35 more)
Albinism Oculocutaneous Type I Temperature Sensitive Associate 1900309
Angiomyolipoma Associate 11371226, 11800647
Autoimmune Diseases Stimulate 28630054
Brain Neoplasms Associate 35018490
Central Nervous System Neoplasms Associate 29428974
Cryptophthalmos Unilateral or Bilateral Isolated Associate 10321549