TYR Gene (Protein Coding)

Tyrosinase

GC11P089177
GIFtS:
48
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. Th... See more...

Aliases for TYR Gene

Aliases for TYR Gene

  • Tyrosinase 2 3 4 5
  • Tumor Rejection Antigen AB 3 4
  • Oculocutaneous Albinism IA 2 3
  • Monophenol Monooxygenase 3 4
  • EC 1.14.18.1 4 54
  • 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 (S)-reticuline biosynthesis and Phenylalanine metabolism. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and oxidoreductase activity. An important paralog of this gene is TYRP1.

UniProtKB/Swiss-Prot Summary 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 initial and rate limiting step in the cascade of reactions leading to melanin production from tyrosine. In addition to hydroxylating tyrosine to DOPA (3,4-dihydroxyphenylalanine), also catalyzes the oxidation of DOPA to DOPA-quinone, and possibly the oxidation of DHI (5,6-dihydroxyindole) to indole-5,6 quinone.

Gene Wiki entry for TYR Gene

Additional gene information for TYR Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TYR Gene

Genomics for TYR Gene

GeneHancer (GH) Regulatory Elements for TYR Gene

Promoters and enhancers for TYR Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH11J089175 Enhancer 0.5 FANTOM5 Ensembl 770 -1.8 -1758 0.6 USF1 TYR GRM5
GH11J089177 Promoter 0.3 EPDnew 750.6 0.0 -2 0.1 TYR GRM5
GH11J089168 Enhancer 0.3 FANTOM5 Ensembl 13.9 -9.4 -9357 0.6 TYR GRM5
GH11J089066 Promoter 0.9 EPDnew Ensembl 0.1 -111.9 -111858 0.4 ZIC2 EZH2 L3MBTL2 GRM5 TYR
GH11J089294 Promoter/Enhancer 0.8 Ensembl ENCODE CraniofacialAtlas 0.1 +116.4 116443 1 CBX3P7 lnc-NOX4-2 ENSG00000279297 TYR
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TYR on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TYR gene promoter:
  • Bach2
  • FOXJ2
  • FOXJ2 (long isoform)
  • Ik-3
  • p53
  • POU3F2 (N-Oct-5a)
  • POU3F2 (N-Oct-5b)
  • STAT1
  • STAT3
  • STAT5A

Genomic Locations for TYR Gene

Genomic Locations for TYR Gene
chr11:89,177,858-89,295,759
(GRCh38/hg38)
Size:
117,902 bases
Orientation:
Plus strand
chr11:88,910,620-89,028,927
(GRCh37/hg19)
Size:
118,308 bases
Orientation:
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 Structure • Gene Density

RefSeq DNA sequence for TYR Gene

Proteins for TYR Gene

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

    Protein Symbol:
    P14679-TYRO_HUMAN
    Recommended name:
    Tyrosinase
    Protein Accession:
    P14679
    Secondary Accessions:
    • Q15675
    • Q15676
    • Q15680
    • Q8TAK4
    • Q9BYY0
    • Q9BZX1

    Protein attributes for TYR Gene

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

    Alternative splice isoforms for TYR Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TYR Gene

Selected DME Specific Peptides for TYR Gene

P14679:
  • SFRNTLEGFA
  • KECCPPW
  • NFMGFNCG
  • HNALHIYMNG
  • NAPIGHN
  • YMVPFIPLYRNG
  • LSGRGSCQ
  • SQSSMHN
  • GSANDPIFLLHHAFVDSIFEQWLR
  • WPSVFYNRTC
  • CTDEYMGG
  • YDLFVWMHYY
  • PLYRNGD
  • VYPEANAP
  • FEQWLRRH

Post-translational modifications for TYR Gene

  • Glycosylated.
  • Glycosylation at Asn86, Asn111, Asn161, Asn230, Asn337, and Asn371
  • Modification sites at PhosphoSitePlus

Other Protein References for TYR Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

Domains & Families for TYR Gene

Gene Families for TYR Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • FDA approved drug targets
  • Predicted membrane proteins

Protein Domains for TYR Gene

Blocks:
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for TYR Gene

GenScript: Design optimal peptide antigens:
  • TYR protein (Q9UMA2_HUMAN)
  • Tumor rejection antigen AB (TYRO_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P14679

UniProtKB/Swiss-Prot:

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

Function for TYR Gene

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Molecular function for TYR Gene

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 initial and rate limiting step in the cascade of reactions leading to melanin production from tyrosine. In addition to hydroxylating tyrosine to DOPA (3,4-dihydroxyphenylalanine), also catalyzes the oxidation of DOPA to DOPA-quinone, and possibly the oxidation of DHI (5,6-dihydroxyindole) to indole-5,6 quinone.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=2 L-dopa + O2 = 2 H2O + 2 L-dopaquinone; Xref=Rhea:RHEA:34287, ChEBI:CHEBI:15377, ChEBI:CHEBI:15379, ChEBI:CHEBI:57504, ChEBI:CHEBI:57924; EC=1.14.18.1; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=L-tyrosine + O2 = H2O + L-dopaquinone; Xref=Rhea:RHEA:18117, ChEBI:CHEBI:15377, ChEBI:CHEBI:15379, ChEBI:CHEBI:57924, ChEBI:CHEBI:58315; EC=1.14.18.1; Evidence=. ;.
UniProtKB/Swiss-Prot Induction:
Increased expression after UVB irradiation.
GENATLAS Biochemistry:
tyrosinase,copper dependent (monophenol monooxygenase),homologous to mouse albino,melanin production

Enzyme Numbers (IUBMB) for TYR Gene

Phenotypes From GWAS Catalog for TYR Gene

Gene Ontology (GO) - Molecular Function for TYR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004503 monophenol monooxygenase activity IBA,IDA 11092760
GO:0005507 copper ion binding IMP 11092760
GO:0005515 protein binding IPI 16162817
GO:0016491 oxidoreductase activity IEA --
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:
  • Tyr Tyr<tm1Arte>

Animal Model Products

CRISPR Products

miRNA for TYR Gene

miRTarBase miRNAs that target TYR

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TYR

Clone Products

  • Addgene plasmids for TYR

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. Melanosome. Note=Proper trafficking to melanosome is regulated by SGSM2, ANKRD27, RAB9A, RAB32 and RAB38. {ECO:0000250 UniProtKB:P11344}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TYR gene
Compartment Confidence
lysosome 5
plasma membrane 4
extracellular 3
mitochondrion 3
nucleus 3
cytosol 3
cytoskeleton 2
endoplasmic reticulum 2
endosome 2
peroxisome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Vesicles (4)
See all subcellular structures

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

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(83) 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 Target, inhibitor 0
Arbutin Approved Pharma Target, inhibitor 0
Azelaic acid Approved Pharma Target, inhibitor 38
Copper Approved, Investigational Pharma Enzyme, cofactor 227
Hydroquinone Approved, Investigational Pharma Target, inhibitor 25

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
5,6-Dihydroxyindole
  • DHI
  • Dopamine lutine
  • Aminochrome
  • Dopaminochrome
 3131-52-0
dopaquinone
  • (S)-2-amino-3-(3,4-Dioxocyclohexa-1,5-dien-1-yl)propanoate
  • (S)-2-amino-3-(3,4-Dioxocyclohexa-1,5-dien-1-yl)propanoic acid
  • O-Dopaquinone
  • 4-(2-Carboxy-2-aminoethyl)-1,2-benzoquinone
  • Dopaquinone, (S)-isomer
 4430-97-1
Quinone
  • 1,4-Benzochinon
  • 2,5-Cyclohexadiene-1,4-dione
  • benzo-1,4-Quinone
  • Benzoquinone
  • P-Benzoquinone
 106-51-4
(S)-3-Hydroxy-N-methylcoclaurine
  • 3'-Hydroxy-(S)-N-methylcoclaurine
  • 3'-Hydroxy-N-methyl-(S)-coclaurine
(S)-N-Methylcoclaurine
  • (S)-1,2,3,4-tetrahydro-1-[(4-Hydroxyphenyl)methyl]-6-methoxy-2-methyl-7-isoquinolinol

(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

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mRNA/cDNA for TYR Gene

(1) REFSEQ mRNAs :
(11) Additional mRNA sequences :
(69) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TYR

Clone Products

  • Addgene plasmids for TYR

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

No ASD Table

Relevant External Links for TYR Gene

GeneLoc Exon Structure for
TYR
ECgene alternative splicing isoforms for
TYR

Expression for TYR Gene

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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TYR Gene

mRNA expression in normal human tissues for TYR Gene
mRNA expression by GTEx for TYR GenemRNA expression by BioGPS 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:

TYR

SOURCE GeneReport for Unigene cluster for TYR Gene:

Hs.503555

Evidence on tissue expression from TISSUES for TYR Gene

  • Skin(4.8)
  • Blood(4.5)
  • Liver(4.2)
  • Eye(2.1)
  • Lymph node(2.1)
  • Kidney(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TYR Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • integumentary
  • nervous
  • skeletal muscle
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • eyelid
  • head
  • inner ear
General:
  • hair
  • peripheral nervous system
  • skin
genes like me logo Genes that share expression patterns with TYR: view

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
chimpanzee
(Pan troglodytes)
 Mammalia TYR 33 32
  • 99.62 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia TYR 33 32
  • 89.15 (n)
 OneToOne
cow
(Bos Taurus)
 Mammalia TYR 33 32
  • 86.2 (n)
 OneToOne
mouse
(Mus musculus)
 Mammalia Tyr 17 33 32
  • 84.06 (n)
rat
(Rattus norvegicus)
 Mammalia Tyr 32
  • 83.68 (n)
oppossum
(Monodelphis domestica)
 Mammalia TYR 33
  • 80 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia TYR 33
  • 75 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves TYR 33 32
  • 72.54 (n)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia TYR 33
  • 74 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia tyr 32
  • 67.81 (n)
zebrafish
(Danio rerio)
 Actinopterygii tyr 33 32 32
  • 61.49 (n)
 OneToOne
rainbow trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.12134 32
sea squirt
(Ciona savignyi)
 Ascidiacea -- 33
  • 42 (a)
 OneToOne
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

ENSEMBL:
Gene Tree for TYR (if available)
TreeFam:
Gene Tree for TYR (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TYR: view image

Paralogs for TYR Gene

Paralogs for TYR Gene

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

  • TYRO_HUMAN
  • L8B082_HUMAN
  • L8B086_HUMAN
  • L8B0B9_HUMAN
  • Q9UMA2_HUMAN
  • U3M8N0_HUMAN
  • U3M9D5_HUMAN
  • U3M9J2_HUMAN

Pseudogenes.org Pseudogenes for TYR Gene

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

Variants for TYR Gene

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Polymorphic Variants from UniProtKB/Swiss-Prot for TYR Gene

TYRO_HUMAN-P14679
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.
TYRO_HUMAN-P14679
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.

Sequence variations from dbSNP and Humsavar for TYR Gene

SNP ID Clin Chr 11 pos Variation AA Info Type
rs1013801316 pathogenic, Tyrosinase-negative oculocutaneous albinism 89,191,418(+) G/A/T coding_sequence_variant, missense_variant, stop_gained
rs1031268531 pathogenic, Tyrosinase-negative oculocutaneous albinism 89,191,362(+) A/G coding_sequence_variant, missense_variant
rs1042602 association, benign, not-provided, likely-benign, Skin/hair/eye pigmentation, variation in, 3, Tyrosinase-negative oculocutaneous albinism, not provided, not specified, Oculocutaneous albinism, - 89,178,528(+) C/A coding_sequence_variant, missense_variant
rs104894313 likely-pathogenic, pathogenic, pathogenic-likely-pathogenic, Oculocutaneous albinism type 1B, not provided, Oculocutaneous albinism, Tyrosinase-negative oculocutaneous albinism, Inborn genetic diseases, Albinism, ocular, with sensorineural deafness, Skin/hair/eye pigmentation, variation in, 3, Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100], Albinism, oculocutaneous, 1B (OCA1B) [MIM:606952] 89,284,805(+) C/T coding_sequence_variant, missense_variant
rs104894314 pathogenic, likely-pathogenic, Oculocutaneous albinism type 1B, not provided, Tyrosinase-negative oculocutaneous albinism, Albinism, ocular, with sensorineural deafness, Skin/hair/eye pigmentation, variation in, 3, Oculocutaneous albinism, Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100], Albinism, oculocutaneous, 1B (OCA1B) [MIM:606952] 89,191,205(+) G/A/T coding_sequence_variant, missense_variant

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)

Additional Variant Information for TYR Gene

Human Gene Mutation Database (HGMD)
TYR
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TYR

SNP Genotyping and Copy Number Assay Products

Disorders for TYR Gene

MalaCards: The human disease database

(77) MalaCards diseases for TYR Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
albinism, oculocutaneous, type ia
  • oca1a
albinism, oculocutaneous, type ib
  • oca1b
albinism, ocular, with sensorineural deafness
  • waardenburg syndrome, type 2, with ocular albinism, autosomal recessive; ws2-oa
skin/hair/eye pigmentation, variation in, 3
  • shep3
albinism
- elite association - COSMIC cancer census association via MalaCards
Search TYR in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

TYRO_HUMAN
  • 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.

Additional Disease Information for TYR

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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No data available for Genatlas for TYR Gene

Publications for TYR Gene

  1. Genetic determinants of hair, eye and skin pigmentation in Europeans. (PMID: 17952075) Sulem P … Stefansson K (Nature genetics 2007) 3 4 43 56
  2. A genomewide association study of skin pigmentation in a South Asian population. (PMID: 17999355) Stokowski RP … Cox DR (American journal of human genetics 2007) 3 4 43 56
  3. Susceptibility and outcome in MS: associations with polymorphisms in pigmentation-related genes. (PMID: 15210908) Partridge JM … Hawkins CP (Neurology 2004) 3 23 43 56
  4. Prostate cancer risk: associations with ultraviolet radiation, tyrosinase and melanocortin-1 receptor genotypes. (PMID: 11720436) Luscombe CJ … Strange RC (British journal of cancer 2001) 3 23 43 56
  5. The tyrosinase gene in gorillas and the albinism of 'Snowflake'. (PMID: 11153699) Martínez-Arias R … Bertranpetit J (Pigment cell research 2000) 3 4 23 56

ExternalLinks

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Products for TYR Gene

  • Addgene plasmids for TYR

Sources for TYR Gene