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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

TYR Gene

protein-coding   GIFtS: 70
GCID: GC11P088911

Tyrosinase

Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
tyrosinase1 2     EC 1.14.18.13 8
Oculocutaneous Albinism IA1 2     CMM82 5
Monophenol Monooxygenase2 3     SHEP32 5
Tumor Rejection Antigen AB2 3     OCA1A2
LB24-AB2 3     OCAIA2
SK29-AB2 3     

External Ids:    HGNC: 124421   Entrez Gene: 72992   Ensembl: ENSG000000774987   OMIM: 6069335   UniProtKB: P146793   

Export aliases for TYR gene to outside databases

Previous GC identifers: GC11P091234 GC11P090457 GC11P089095 GC11P088598 GC11P088550 GC11P085151


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 oculocutaneous albinism type 1, and amelanotic melanoma, and among its related super-pathways are L-dopachrome biosynthesis and Tyrosine metabolism p.1 (dopamine) . GO annotations related to this gene include copper ion binding and protein homodimerization activity. An important paralog of this gene is TYRP1.

UniProtKB/Swiss-Prot: TYRO_HUMAN, P14679
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

Gene Wiki entry for TYR (Tyrosinase) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000011.9  NC_018922.2  NT_167190.1  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the TYR gene promoter:
         STAT1   p53   Bach2   POU3F2 (N-Oct-5a)   POU3F2 (N-Oct-5b)   STAT5A   Ik-3   FOXJ2 (long isoform)   STAT3   FOXJ2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTYR promoter sequence
   Search SABiosciences Chromatin IP Primers for TYR

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TYR


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 11q14.3   Ensembl cytogenetic band:  11q14.3   HGNC cytogenetic band: 11q14.3

TYR Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TYR gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11P088911:  view genomic region     (about GC identifiers)

Start:
88,910,620 bp from pter      End:
89,028,927 bp from pter
Size:
118,308 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: TYRO_HUMAN, P14679 (See protein sequence)
Recommended Name: Tyrosinase precursor  
Size: 529 amino acids; 60393 Da
Cofactor: Binds 2 copper ions per subunit
Subcellular location: Melanosome membrane; Single-pass type I membrane protein
Sequence caution: Sequence=AAA61241.1; Type=Erroneous initiation; Sequence=CAA68756.1; Type=Erroneous initiation;
Secondary accessions: Q15675 Q15676 Q15680 Q8TAK4 Q9BYY0 Q9BZX1
Alternative splicing: 2 isoforms:  P14679-1   P14679-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for TYR: NX_P14679

Explore proteomics data for TYR at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P14679

  • 4/15 DME Specific Peptides for TYR (P14679) (see all 15)
     PLYRNGD  SQSSMHN  KECCPPW  NAPIGHN 

    TYR Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    TYR Protein Expression
    REFSEQ proteins: NP_000363.1  
    ENSEMBL proteins: 
     ENSP00000263321  

    Human Recombinant Protein Products for TYR: 
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    Cloud-Clone Corp. Proteins for TYR 

    Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA11092760
    GO:0005764lysosome TAS11092760
    GO:0005798Golgi-associated vesicle TAS10823941
    GO:0016021integral to membrane IEA--
    GO:0033162melanosome membrane IEA--

    TYR for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    2 InterPro protein domains:
     IPR002227 Tyrosinase
     IPR008922 Unchr_di-copper_centre

    Graphical View of Domain Structure for InterPro Entry P14679

    ProtoNet protein and cluster: P14679

    1 Blocks protein domain: IPB002227 Tyrosinase copper-binding domain signature

    UniProtKB/Swiss-Prot: TYRO_HUMAN, P14679
    Similarity: Belongs to the tyrosinase family


    TYR for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: TYRO_HUMAN, P14679
    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
    Catalytic activity: 2 L-dopa + O(2) = 2 dopaquinone + 2 H(2)O
    Catalytic activity: L-tyrosine + O(2) = dopaquinone + H(2)O
    Induction: Increased expression after UVB irradiation

         Genatlas biochemistry entry for TYR:
    tyrosinase,copper dependent (monophenol monooxygenase),homologous to mouse albino,melanin production

         Enzyme Number (IUBMB): EC 1.14.18.11 2

         Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004503monophenol monooxygenase activity IDA11092760
    GO:0005507copper ion binding IMP11092760
    GO:0005515protein binding IPI16162817
    GO:0016491oxidoreductase activity ----
    GO:0042803protein homodimerization activity ISS--
         
    TYR for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for TYR:
     Decreased melanin production 

         15/20 MGI mutant phenotypes (inferred from 114 alleles(MGI details for Tyr) (see all 20):
     behavior/neurological  cardiovascular system  cellular  embryogenesis  endocrine/exocrine gland 
     growth/size  homeostasis/metabolism  immune system  integument  limbs/digits/tail 
     mortality/aging  nervous system  no phenotypic analysis  normal  pigmentation 

    TYR for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for TYR 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for TYR

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for TYR 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for TYR 

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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for TYR About   (see all 8)                                                                                              See pathways by source

    SuperPathContained pathways About
    1(S)-reticuline biosynthesis II
    (S)-reticuline biosynthesis II1.00
    L-dopachrome biosynthesis1.00
    2Tyrosine metabolism p.1 (dopamine)
    Tyrosine metabolism p.1 (dopamine)1.00
    3Metabolism
    Metabolic pathways0.40
    4Phenylalanine metabolism
    Tyrosine metabolism0.36
    5Basal cell carcinoma
    Melanogenesis0.32

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 EMD Millipore Pathways for TYR
        Tyrosine metabolism p.1 (dopamine)
    Selected targets of HNF1


    1 Cell Signaling Technology (CST) Pathway for TYR
        Glucose / Energy Metabolism

    1 GeneGo (Thomson Reuters) Pathway for TYR
        Tyrosine metabolism p.1 (dopamine)

    2 BioSystems Pathways for TYR
        L-dopachrome biosynthesis
    (S)-reticuline biosynthesis II



    4         Kegg Pathways  (Kegg details for TYR):
        Tyrosine metabolism
    Riboflavin metabolism
    Metabolic pathways
    Melanogenesis


    TYR for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for TYR

    STRING Interaction Network Preview (showing 5 interactants - click image to see 12)

    5/12 Interacting proteins for TYR (P146793 ENSP000002633214) via UniProtKB, MINT, STRING, and/or I2D (see all 12)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TYRP1P176433, ENSP000003735704I2D: score=2 STRING: ENSP00000373570
    DDCENSP000003506164STRING: ENSP00000350616
    GOT1ENSP000003595394STRING: ENSP00000359539
    GOT2ENSP000002452064STRING: ENSP00000245206
    IL4I1ENSP000003425574STRING: ENSP00000342557
    About this table

    Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006583melanin biosynthetic process from tyrosine TAS7704033
    GO:0006726eye pigment biosynthetic process TAS7704033
    GO:0007601visual perception TAS7704033
    GO:0008152metabolic process ----
    GO:0008283cell proliferation IEA--

    TYR for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    TYR for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Enzo Life Sciences drugs & compounds for TYR

    Browse Tocris compounds for TYR (TYRO)

    10/20 HMDB Compounds for TYR (see all 20)    About this table
    CompoundSynonyms CAS #PubMed Ids
    Dihydrobiopterin(S-(R*,S*))-2-amino-6-(1,2-dihydroxypropyl)-7,8-dihydro-4(1H)-Pteridinone (see all 15)6779-87-915555584
    Tetrahydrobiopterin(1R,2S)-(2-Amino-3,4,5,6,7,8-hexahydro-4-oxo-6-pteridinyl)-1,2-propandiol (see all 11)17528-72-27826365
    (S)-3-Hydroxy-N-methylcoclaurine3'-Hydroxy-N-methyl-(S)-coclaurine (see all 2)----
    3,4-Dihydroxy-trans-cinnamatetrans-Caffeate (see all 2)501-16-6--
    4-Hydroxycinnamic acid3-(4-Hydroxyphenyl)-2-propenoate (see all 36)7400-08-0--
    5,6-DihydroxyindoleDHI;dopaminochrome (see all 2)3131-52-0--
    Carbon dioxideCarbon oxide (see all 5)124-38-9--
    CopperCu (see all 2)7440-50-8--
    DL-Dopa2-Amino-3-(3,4-dihydroxyphenyl)propanoate (see all 19)63-84-3--
    Dopaquinoneo-Dopaquinone 4430-97-1--

    4 DrugBank Compounds for TYR    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Azelaic AcidAnchoic acid (see all 7)123-99-9targetinhibitor4004885 2114832 448162 2963038
    MimosineL-Mimosine (see all 6)500-44-7targetinhibitor6234942 16750372 15577244 3094574
    NADHbeta-DPNH (see all 18)606-68-8target--16790533 17292452
    MonobenzoneBenzoquin (see all 13)103-16-2targetinhibitor19159217

    10/147 Novoseek inferred chemical compound relationships for TYR gene (see all 147)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    dopaquinone 92.5 34 8433004 (2), 7945390 (1), 11744399 (1), 16392817 (1) (see all 29)
    dopachrome 91.8 65 11434569 (3), 11851878 (3), 8126111 (3), 7526730 (3) (see all 39)
    kojic acid 90.5 62 19884780 (3), 9523332 (2), 19700313 (2), 15997128 (2) (see all 40)
    o-quinone 88.8 27 9511473 (2), 9158692 (2), 11341938 (2), 15620894 (1) (see all 23)
    eumelanin 86.3 25 16524431 (2), 11171088 (2), 1655007 (2), 11799132 (1) (see all 15)
    4-s-cysteaminylphenol 85.1 29 2127097 (3), 1555210 (3), 9260870 (3), 1997095 (2) (see all 10)
    arbutin 84.3 47 8632348 (4), 9523330 (4), 1920891 (3), 12843585 (3) (see all 22)
    levodopa 84.3 265 11124258 (4), 18670186 (3), 8064113 (3), 9266600 (3) (see all 99)
    n-acetyl-4-s-cysteaminylphenol 83.5 14 7577578 (3), 1555210 (3), 1929460 (1), 11118049 (1) (see all 5)
    4-tert-butylcatechol 83.3 17 17868943 (3), 8841378 (2), 1519764 (1), 10761994 (1) (see all 8)

    Search CenterWatch for drugs/clinical trials and news about TYR / TYRO

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    About This Section

    REFSEQ mRNAs for TYR gene: 
    NM_000372.4  

    Unigene Cluster for TYR:

    Tyrosinase
    Hs.503555  [show with all ESTs]
    Unigene Representative Sequence: M27160
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000263321(uc001pcs.3) ENST00000526139 ENST00000528243
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    Additional mRNA sequence: 

    AB775899.1 AB775900.1 AB775901.1 BC027179.1 J03581.1 M27160.1 M74314.1 S66645.1 
    U01873.1 Y00819.1 

    1 DOTS entry:

    DT.113443 

    24/69 AceView cDNA sequences (see all 69):

    BU156904 BG575202 BQ424558 M27160 BQ439755 BM453335 CA396680 BQ678960 
    U01873 BU191334 BU732939 BU154819 BU190117 NM_000372 BM557397 BQ424713 
    BQ677071 Y00819 AI221879 BG576440 CA392993 S66645 BU183039 N20574 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TYR expression in normal human tissues (normalized intensities)      TYR embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAGAAAGAGG
    TYR Expression
    About this image


    TYR expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/4 selected tissues (see all 4) fully expand (Integumentary System)    fully expand to see all 3 entries
     
     Eye (Sensory Organs)    fully expand to see all 4 entries
             Retinal Pigmented Epithelium Progenitor Cells Retinal Pigmented Epithelium
             Human Retinal Pigment Epithelial Cells (HRPEpiC)   
             cornea   
     
     Melanocytes (Integumentary System)    fully expand to see all 4 entries
             skin ; melanocytes   
     
     Epidermis (Integumentary System)    fully expand to see all 4 entries
             Human EpiDermal Melanocytes-medium (HEM-m)   
     
     Ear (Sensory Organs)
             stria vascularis   
             skin ; keratinocytes   

     -- (Integumentary System)
             skin   

    See TYR Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TYR

    SOURCE GeneReport for Unigene cluster: Hs.503555
        SABiosciences Expression via Pathway-Focused PCR Arrays including TYR: 
              Cell Lineage Identification in human mouse rat
              Terminal Differentiation Markers in human mouse rat
              Amino Acid Metabolism II in human mouse rat

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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for TYR gene from 5/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tyr1 , 5 tyrosinase1, 5 84.06(n)1
    86.39(a)1
      7 (49.01 cM)5
    221731  NM_011661.41  NP_035791.11 
     874274055 
    chicken
    (Gallus gallus)
    Aves TYR1 tyrosinase (oculocutaneous albinism IA) 72.55(n)
    73.81(a)
      373971  NM_204160.1  NP_989491.1 
    lizard
    (Anolis carolinensis)
    Reptilia TYR6
    Uncharacterized protein
    74(a)
    1 ↔ 1
    3(199045604-199124140)
    African clawed frog
    (Xenopus laevis)
    Amphibia AB108529.12   -- 77.44(n)    AB108529.1 
    zebrafish
    (Danio rerio)
    Actinopterygii tyr2 tyrosinase 72.04(n)   30207  AF542067.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for TYR gene
    TYRP12  DCT2  
    4 SIMAP similar genes for TYR using alignment to 5 protein entries:     TYRO_HUMAN (see all proteins):
    TYRL    TRP-2    DCT    TYRP1

    TYR for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for TYR
    PGOHUM00000257815


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    UniProtKB/Swiss-Prot: TYRO_HUMAN, P14679
    Polymorphism: 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
    Polymorphism: 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


    10/2917 SNPs in TYR are shown (see all 2917)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0217044
    Albinism, oculocutaneous, 1A (OCA1A)4--see VAR_0217042 H Y mis40--------
    VAR_0076894
    Albinism, oculocutaneous, 1B (OCA1B)4--see VAR_0076892 P L mis40--------
    VAR_0216834
    Albinism, oculocutaneous, 1A (OCA1A)4--see VAR_0216832 C Y mis40--------
    VAR_0217034
    Albinism, oculocutaneous, 1A (OCA1A)4--see VAR_0217032 K T mis40--------
    VAR_0216954
    Albinism, oculocutaneous, 1A (OCA1A)4--see VAR_0216952 A S mis40--------
    VAR_0076914
    Albinism, oculocutaneous, 1B (OCA1B)4--see VAR_0076912 R Q mis40--------
    VAR_0217094
    Albinism, oculocutaneous, 1A (OCA1A)4--see VAR_0217092 M T mis40--------
    VAR_0216874
    Albinism, oculocutaneous, 1A (OCA1A)4--see VAR_0216872 Q H mis40--------
    VAR_0216924
    Albinism, oculocutaneous, 1A (OCA1A)4--see VAR_0216922 M L mis40--------
    VAR_0076834
    Albinism, oculocutaneous, 1A (OCA1A)4--see VAR_0076832 D N mis40--------

    HapMap Linkage Disequilibrium report for TYR (88910620 - 89028927 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/11 variations for TYR (see all 11):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv989571CNV Deletion20482838
    esv3450CNV Deletion18987735
    esv2744880CNV Deletion23290073
    esv2660364CNV Deletion23128226
    esv27246CNV Loss19812545
    nsv39232CNV Loss16902084
    esv996249CNV Loss20482838
    dgv165n27CNV Loss19166990
    nsv469976CNV Gain18288195
    nsv468781CNV Gain19166990


    Human Gene Mutation Database (HGMD): TYR

    Locus Specific Mutation Databases (LSDB): TYR
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing TYR
    DNA2.0 Custom Variant and Variant Library Synthesis for TYR

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 606933   
    OMIM disorders: 203100  103470  606952  601800  
    UniProtKB/Swiss-Prot: TYRO_HUMAN, P14679
  • 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. 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. Note=The disease is caused by
    mutations affecting the gene represented in this entry

  • 20/85 diseases for TYR (see all 85):    About MalaCards
    oculocutaneous albinism type 1    amelanotic melanoma    vogt-koyanagi-harada disease    waardenburg syndrome/albinism, digenic
    oculocutaneous albinism    albinism    oculocutaneous albinism type 2    retroperitoneal sarcoma
    skin melanoma    juvenile xanthogranuloma    vitiligo    chediak-higashi syndrome
    glaucoma, congenital    waardenburg's syndrome    waardenburg syndrome type 2    posterior uveal melanoma
    ocular albinism    angiomyolipoma    hermansky-pudlak syndrome    tyrosinemia

    10 diseases from the University of Copenhagen DISEASES database for TYR:
    Melanoma     Oculocutaneous albinism     Vitiligo     Microphthalmia
    Ocular albinism     Pain agnosia     Phenylketonuria     Vaccinia
    Skin cancer     Shipyard eye

    TYR for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/87 Novoseek inferred disease relationships for TYR gene (see all 87)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    albinism oculocutaneous 92.2 58 20447099 (4), 1498098 (2), 18683130 (2), 15635296 (2) (see all 35)
    oculocutaneous albinism, tyrosinase-negative 91.7 27 8618053 (2), 1832718 (2), 10929771 (2), 9059668 (1) (see all 17)
    melanoma 91.2 786 9118024 (5), 7667256 (5), 18791269 (5), 10360670 (4) (see all 99)
    albinism 86.4 24 1476926 (2), 8433006 (2), 11153699 (2), 1693779 (1) (see all 14)
    melanoma b16 81.6 37 9872567 (2), 17397179 (2), 1920891 (2), 19814867 (2) (see all 28)
    metastatic melanoma 81.2 39 15103749 (2), 16252260 (2), 9456433 (1), 11178974 (1) (see all 35)
    melanoma amelanotic 79.4 23 9177196 (2), 11775059 (2), 1903481 (1), 19133143 (1) (see all 19)
    hyperpigmentation 79.2 17 16392817 (1), 20026160 (1), 12372097 (1), 7662120 (1) (see all 18)
    vitiligo 78.1 74 9204957 (7), 10206048 (7), 10469315 (5), 8697641 (4) (see all 28)
    microphthalmia 76.6 52 11145253 (4), 9700169 (4), 12470134 (3), 10707962 (3) (see all 33)

    GeneTests: TYR
    GeneReviews: TYR
    Genetic Association Database (GAD): TYR
    Human Genome Epidemiology (HuGE) Navigator: TYR (166 documents)

    Export disorders for TYR gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for TYR gene, integrated from 9 sources (see all 1397):
    (articles sorted by number of sources associating them with TYR)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A genomewide association study of skin pigmentation in a South Asian population. (PubMed id 17999355)1, 2, 4, 9 Stokowski R.P....Cox D.R. (2007)
    2. Genetic determinants of hair, eye and skin pigmentation in Europeans. (PubMed id 17952075)1, 2, 4 Sulem P.... Stefansson K. (2007)
    3. Tyrosinase gene mutations associated with type IB ('yellow') oculocutaneous albinism. (PubMed id 1903591)1, 2, 4 Giebel L.B.... Spritz R.A. (1991)
    4. The tyrosinase gene in gorillas and the albinism of 'Snowflake'. (PubMed id 11153699)1, 2, 9 Martinez-Arias R.... Bertranpetit J. (2000)
    5. Birth prevalence and mutation spectrum in danish patients with autosomal recessive albinism. (PubMed id 19060277)1, 4, 9 GrA...Rosenberg T. (2009)
    6. Variant of TYR and autoimmunity susceptibility loci i n generalized vitiligo. (PubMed id 20410501)1, 4, 9 Jin Y....Spritz R.A. (2010)
    7. A comprehensive analysis reveals mutational spectra a nd common alleles in Chinese patients with oculocutaneous albinism. (PubMed id 19865097)1, 4, 9 Wei A....Li W. (2010)
    8. Multiple pigmentation gene polymorphisms account for a substantial proportion of risk of cutaneous malignant melanoma. (PubMed id 19710684)1, 4, 9 Duffy D.L....Montgomery G.W. (2010)
    9. Contribution of genetic factors for melanoma susceptibility in sporadic US melanoma patients. (PubMed id 19320745)1, 4, 9 Laurin Council M....Bowcock A.M. (2009)
    10. Comprehensive Analysis of Oculocutaneous Albinism among Non-Hispanic Caucasians Shows that OCA1 Is the Most Prevalent OCA Type. (PubMed id 18463683)1, 4, 9 Hutton S.M. and Spritz R.A. (2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
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      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 7299 HGNC: 12442 AceView: TYR Ensembl:ENSG00000077498 euGenes: HUgn7299
    ECgene: TYR Kegg: 7299 H-InvDB: TYR

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for TYR Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for TYR Genetics and Cytogenetics in Oncology and Haematology
    Mutations of the TYR genehttp://www.retina-international.org/files/sci-news/tyrmut.htm
    Albinism database (ADB)http://albinismdb.med.umn.edu/oca1mut.html
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/TYR
    Protein Spotlighthttp://web.expasy.org/spotlight/back_issues/sptlt049.shtml
    Wikipedia http://en.wikipedia.org/wiki/Tyrosinase

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for TYR gene:
    Search GeneIP for patents involving TYR

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

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