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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
External Ids for TYR Gene
- HGNC: 12442
- Entrez Gene: 7299
- Ensembl: ENSG00000077498
- OMIM: 606933
- UniProtKB: P14679
Previous GeneCards Identifiers for TYR Gene
- GC11P091234
- GC11P090457
- GC11P089095
- GC11P088598
- GC11P088550
- GC11P088911
- GC11P085151
Summaries 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 Tyrosine 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.
Additional gene information for TYR Gene
- HGNC(12442)
- Entrez Gene(7299)
- Ensembl(ENSG00000077498)
- OMIM(606933)
- UniProtKB(P14679)
- Open Targets Platform(ENSG00000077498)
- Monarch Initiative
- Search for TYR at DataMed
- Search for TYR at HumanCyc
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 Pubs
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 | 620 | -1.5 | -1465 | 0.6 | USF1 | TYR LOC107984363 GRM5 | |
| GH11J089177 | Promoter | 0.3 | EPDnew | 600.7 | +0.3 | 291 | 0.1 | TYR RF00994-198 LOC107984363 NOX4 | ||
| GH11J089168 | Enhancer | 0.3 | FANTOM5 Ensembl | 13.9 | -9.1 | -9064 | 0.6 | TYR GRM5 LOC107984363 | ||
| GH11J089066 | Promoter | 1 | EPDnew Ensembl | 0.1 | -111.6 | -111565 | 0.4 | ZIC2 EZH2 RAD21 ZBTB26 TBP L3MBTL2 | GRM5 TYR | |
| GH11J089294 | Promoter/Enhancer | 0.9 | Ensembl ENCODE CraniofacialAtlas | 0.1 | +116.7 | 116736 | 1 | CTCF | CBX3P7 lnc-NOX4-2 ENSG00000279297 TYR NOX4 |
- 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 the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TYR
- 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
- chr11:89,177,565-89,295,759
- (GRCh38/hg38)
- Size:
- 118,195 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:
-
- 11q14.3 by HGNC
- 11q14.3 by Entrez Gene
- 11q14.3 by Ensembl
TYR Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for TYR Gene
Proteins for TYR Gene
-
Protein details for TYR Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P14679-TYRO_HUMAN
- Recommended name:
- Tyrosinase
- Protein Accession:
- P14679
- 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};
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
- NX_P14679 (NX_P14679-1)
- Modification sites at PhosphoSitePlus
Other Protein References for TYR Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- LifeSpan BioSciences Tyrosinase Monoclonal Antibody
- NSJ Bioreagents Tyrosinase Antibody
- Novus Biologicals Antibodies for TYR
-
Abcam antibodies for TYR
- Invitrogen Antibodies for TYR (AFLGC-TYR)
-
Santa Cruz Biotechnology (SCBT) Antibodies for TYR
Protein Products
- Search Origene for MassSpec and Protein Over-expression Lysates for TYR
- Origene Custom Protein Services for TYR
- antibodies-online: Show 15 available TYR Proteins ranked by validation data
- Compare Top TYR Proteins
-
Abcam proteins for TYR
Assay Products
- G Biosciences Immunotag™ Human TYR (Tyrosinase) ELISA and Immunotag™ Tyrosinase ELISA Kit
- antibodies-online: Show 65 available TYR Elisa Kits ranked by validation data
- Compare Top TYR Elisa Kits
-
Quality Products:
-
Boster Bio ELISA Kits for TYR
-
Signalway ELISA kits for TYR
-
Abcam assays for TYR
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
- InterPro:
- Blocks:
-
- Tyrosinase copper-binding domain signature
- 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- Family:
-
- Belongs to the tyrosinase family.
Function for TYR Gene
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={ECO:0000250|UniProtKB:P11344};.
- 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={ECO:0000250|UniProtKB:P11344};.
- 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
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0004497 | monooxygenase activity | IEA | -- |
| 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 | -- |
Phenotypes for TYR Gene
- MGI mutant phenotypes for TYR:
-
inferred from 134 alleles
- nervous system phenotype
- immune system phenotype
- normal phenotype
- cardiovascular system phenotype
- cellular phenotype
- behavior/neurological phenotype
- mortality/aging
- homeostasis/metabolism phenotype
- growth/size/body region phenotype
- renal/urinary system phenotype
- neoplasm
- endocrine/exocrine gland phenotype
- reproductive system phenotype
- vision/eye phenotype
- limbs/digits/tail phenotype
- hearing/vestibular/ear phenotype
- skeleton phenotype
- integument phenotype
- embryo phenotype
- pigmentation phenotype
- craniofacial phenotype
- adipose tissue phenotype
- no phenotypic analysis
- GenomeRNAi human phenotypes for TYR:
Animal Models for TYR Gene
- MGI Knock Outs for TYR:
-
- Tyr Tyr<tm1Arte>
Animal Model Products
-
Taconic Biosciences Mouse Models for TYR
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for TYR - Select products 50% OFF >
- * TYR CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for TYR
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for TYR
-
Santa Cruz Biotechnology (SCBT) CRISPR for TYR
miRNA for TYR Gene
- miRTarBase miRNAs that target TYR
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for TYR
- Browse OriGene Inhibitory RNA Products For TYR
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TYR
Clone Products
- Applied Biological Materials (abm): Clones for TYR - Select products 50% OFF >
- * TYR as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for TYR
- Addgene plasmids for TYR
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for TYR
Cell Line Products
-
Horizon Cell Lines 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}.
| Compartment | Confidence |
|---|---|
| lysosome | 5 |
| plasma membrane | 4 |
| nucleus | 4 |
| cytosol | 4 |
| extracellular | 3 |
| cytoskeleton | 3 |
| mitochondrion | 3 |
| endoplasmic reticulum | 3 |
| peroxisome | 2 |
| endosome | 2 |
| golgi apparatus | 2 |
- Vesicles (4)
| 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 | -- |
Pathways & Interactions for TYR Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Metabolism |
.40
|
|
| 2 | Tyrosine metabolism |
Tyrosine metabolism p.1 (dopamine)
.32
|
|
| 3 | (S)-reticuline biosynthesis | ||
| 4 | Glucose / Energy Metabolism | ||
| 5 | Aldosterone synthesis and secretion |
.41
|
|
Pathways by source for TYR Gene
3 BioSystems pathways for TYR Gene
3 Reactome pathways for TYR Gene
3 KEGG pathways for TYR Gene
1 GeneGo (Thomson Reuters) pathway for TYR Gene
- Tyrosine metabolism p.1 (dopamine)
1 Cell Signaling Technology pathway for TYR Gene
Interacting Proteins for TYR Gene
Selected Interacting proteins:
P14679-TYRO_HUMAN
ENSP00000263321
for TYR Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for TYR
| 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 | -- |
Drugs & Compounds for TYR Gene
| 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 | 249 | ||
| Hydroquinone | Approved, Investigational | Pharma | Target, inhibitor | 27 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| 5,6-Dihydroxyindole |
|
3131-52-0 | ||||
| dopaquinone |
|
4430-97-1 | ||||
| Quinone |
|
106-51-4 | ||||
| (S)-3-Hydroxy-N-methylcoclaurine |
|
|
||||
| (S)-N-Methylcoclaurine |
|
|
(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 |
Transcripts for TYR Gene
mRNA/cDNA for TYR Gene
- 1 REFSEQ mRNAs :
- 11 NCBI additional mRNA sequence :
- 3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000263321 2062 nts (view in UCSC)
- ENST00000526139 1446 nts (view in UCSC)
- ENST00000528243 530 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for TYR - Select products 50% OFF >
- * TYR CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for TYR
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for TYR
-
Santa Cruz Biotechnology (SCBT) CRISPR for TYR
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for TYR
- Browse OriGene Inhibitory RNA Products For TYR
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TYR
Clone Products
- Applied Biological Materials (abm): Clones for TYR - Select products 50% OFF >
- * TYR as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for TYR
- Addgene plasmids for TYR
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for TYR
Relevant External Links for TYR Gene
- GeneLoc Exon Structure for
- TYR
Expression for TYR Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Eye (Sensory Organs)
- Mature Retinal Pigmented Epithelium Cells Retinal Pigmented Epithelium
- Retinal Pigmented Epithelium Progenitor Cells Retinal Pigmented Epithelium
- cornea
- Human Retinal Pigment Epithelial Cells (HRPEpiC)
- Mature retinal pigmented epithelium cells(Lu B et. al. 2009)
- Melanocytes (Integumentary System)
- Epidermis (Integumentary System)
-
Epithelial Cells
- Mature Retinal Pigmented Epithelium Cells Retinal Pigmented Epithelium
- Mature retinal pigmented epithelium cells(Lu B et. al. 2009)
- NULL (Sensory Organs)
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).
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TYR
SOURCE GeneReport for Unigene cluster for TYR Gene:
Hs.503555Evidence on tissue expression from TISSUES for TYR Gene
- Skin(4.9)
- Blood(4.7)
- Liver(4.6)
- Nervous system(3.2)
- Kidney(3)
- Muscle(2.9)
- Heart(2.8)
- Intestine(2.8)
- Eye(2.7)
- Spleen(2.6)
- Lymph node(2.6)
- Pancreas(2.5)
- Lung(2.4)
- Stomach(2.4)
- Bone(2.4)
- Urine(2.4)
- Adrenal gland(2.3)
- Bone marrow(2.3)
- Thyroid gland(2.2)
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
Primer Products
-
OriGene qPCR primer pairs for TYR
-
OriGene qPCR primer pairs and template standards for TYR
Gene Expression Assay 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | TYR 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | TYR 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | TYR 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Tyr 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Tyr 30 |
|
||
| Oppossum (Monodelphis domestica) |
Mammalia | TYR 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | TYR 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | TYR 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | TYR 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | tyr 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | tyr 30 31 |
|
OneToOne | |
| Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.12134 30 |
|
||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne |
- Species where no ortholog for TYR was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
- 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
(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
Variants for TYR Gene
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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TYR Gene
| SNP ID | Clinical significance and condition | Chr 11 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 627594 | Likely Pathogenic: Tyrosinase-negative oculocutaneous albinism | 89,178,110(+) | G/T | MISSENSE_VARIANT | |
| 627595 | Likely Pathogenic: Tyrosinase-negative oculocutaneous albinism | 89,178,482(+) | G/C | MISSENSE_VARIANT | |
| 627596 | Pathogenic: Tyrosinase-negative oculocutaneous albinism | 89,284,863(+) | C/G | NONSENSE | |
| 627597 | Likely Pathogenic: Tyrosinase-negative oculocutaneous albinism | 89,284,786(+) | T/A | MISSENSE_VARIANT | |
| 637017 | Pathogenic: Tyrosinase-negative oculocutaneous albinism | 89,295,228(+) | AG/A | FRAMESHIFT_VARIANT |
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
SNP Genotyping and Copy Number Assay Products
Disorders for TYR Gene
(107) MalaCards diseases for TYR Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| albinism, oculocutaneous, type ia |
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| albinism, oculocutaneous, type ib |
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| skin/hair/eye pigmentation, variation in, 3 |
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| ocular albinism with congenital sensorineural deafness |
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| albinism |
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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)
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No data available for Genatlas for TYR Gene
Publications for TYR Gene
- 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 23 41
- A comprehensive analysis reveals mutational spectra and common alleles in Chinese patients with oculocutaneous albinism. (PMID: 19865097) Wei A … Li W (The Journal of investigative dermatology 2010) 3 23 41
- Multiple pigmentation gene polymorphisms account for a substantial proportion of risk of cutaneous malignant melanoma. (PMID: 19710684) Duffy DL … Montgomery GW (The Journal of investigative dermatology 2010) 3 23 41
- Birth prevalence and mutation spectrum in danish patients with autosomal recessive albinism. (PMID: 19060277) Grønskov K … Rosenberg T (Investigative ophthalmology & visual science 2009) 3 23 41
- Contribution of genetic factors for melanoma susceptibility in sporadic US melanoma patients. (PMID: 19320745) Council ML … Bowcock AM (Experimental dermatology 2009) 3 23 41
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Sources for TYR Gene
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