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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

TYR Gene

protein-coding GIFtS: 69
GCID: GC11P088911

tyrosinase

Explore 95 diseases affiliated with
TYR via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Tyrosinase¹		EC 1.14.18.1³ ⁸
OCAIA¹ ²		CMM8² ⁵
Monophenol Monooxygenase² ³		SHEP3² ⁵
Tumor Rejection Antigen AB² ³		OCA1A²
LB24-AB² ³		Oculocutaneous Albinism IA²
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:

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)

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)

(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000011.9 NC_018922.1 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 plasmid: TYR 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-q21 Ensembl cytogenetic band: 11q14.3 HGNC cytogenetic band: 11q14-q21

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 ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Post-translational modifications:

View modification sites using PhosphoSitePlus²

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 MOPED and PaxDb: About this image

REFSEQ proteins: NP_000363.1

ENSEMBL proteins:

ENSP00000263321

Human Recombinant Protein Products:

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	Uscn Proteins for TYR

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005737	cytoplasm	IDA	11092760
GO:0005764	lysosome	TAS	11092760
GO:0005798	Golgi-associated vesicle	TAS	10823941
GO:0016021	integral to membrane	IEA	--
GO:0033162	melanosome membrane	IEA	--

TYR for ontologies About GeneDecksing

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	Uscn ELISAs and CLIAs for TYR

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

TYR for domains About GeneDecksing

2 InterPro domains/families:

IPR002227 Tyrosinase

IPR008922 Unchr_di-copper_centre

Graphical View of Domain Structure for InterPro Entry P14679

ProtoNet protein and cluster: P14679

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

UniProtKB/Swiss-Prot: TYRO_HUMAN, P14679

Similarity: Belongs to the tyrosinase family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

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

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

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		SwitchGear 3'UTR luciferase reporter plasmid: TYR 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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Gene Editing
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TYR

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004503	monophenol monooxygenase activity	IDA	11092760
GO:0005507	copper ion binding	IMP	11092760
GO:0005515	protein binding	IPI	16162817
GO:0042803	protein homodimerization activity	ISS	--
GO:0046982	protein heterodimerization activity	ISS	--

TYR for ontologies About GeneDecksing

1 GenomeRNAi human phenotype for TYR:

Decreased melanin production

Animal Models:
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

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/6 super-pathways (see all 6) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Tyrosine metabolism

	Tyrosine metabolism	1.00			Tyrosine metabolism p.1 (dopamine)	0.28
	Tyrosine metabolism p.1 (dopamine)	0.28

Riboflavin metabolism

	Riboflavin metabolism	1.00			(S)-reticuline biosynthesis II	0.08
	L-dopachrome biosynthesis	0.08

Glucose / Energy Metabolism

Glucose / Energy Metabolism

1.00

Selected targets of HNF1

Selected targets of HNF1

1.00

Metabolism

Metabolic pathways

0.38

Pathway sources
See GeneCards unified pathways
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

	(S)-reticuline biosynthesis II
	L-dopachrome biosynthesis

4 Kegg Pathways (Kegg details for TYR):

	Tyrosine metabolism
	Riboflavin metabolism
	Metabolic pathways
	Melanogenesis

TYR for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM 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)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
TYRP1	P17643³, ENSP00000373570⁴	I2D: score=2 STRING: ENSP00000373570
DDC	ENSP00000350616⁴	STRING: ENSP00000350616
GOT1	ENSP00000359539⁴	STRING: ENSP00000359539
GOT2	ENSP00000245206⁴	STRING: ENSP00000245206
IL4I1	ENSP00000342557⁴	STRING: ENSP00000342557

About this table

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

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:0042438	melanin biosynthetic process	--	--

TYR for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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

10/20 HMDB Compounds for TYR (see all 20) About this table

Compound	Synonyms	CAS #	PubMed Ids
Dihydrobiopterin	(S-(R,S))-2-amino-6-(1,2-dihydroxypropyl)-7,8-dihydro-4(1H)-Pteridinone (see all 15)	6779-87-9	15555584
Tetrahydrobiopterin	(1R,2S)-(2-Amino-3,4,5,6,7,8-hexahydro-4-oxo-6-pteridinyl)-1,2-propandiol (see all 11)	17528-72-2	7826365
(S)-3-Hydroxy-N-methylcoclaurine	3'-Hydroxy-N-methyl-(S)-coclaurine (see all 2)	--	--
3,4-Dihydroxy-trans-cinnamate	trans-Caffeate (see all 2)	501-16-6	--
4-Hydroxycinnamic acid	3-(4-Hydroxyphenyl)-2-propenoate (see all 36)	7400-08-0	--
5,6-Dihydroxyindole	DHI;dopaminochrome (see all 2)	3131-52-0	--
Carbon dioxide	Carbon oxide (see all 5)	124-38-9	--
Copper	Cu (see all 2)	7440-50-8	--
DL-Dopa	2-Amino-3-(3,4-dihydroxyphenyl)propanoate (see all 19)	63-84-3	--
Dopaquinone	o-Dopaquinone	4430-97-1	--

4 DrugBank Compounds for TYR About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Azelaic Acid	Anchoic acid (see all 7)	123-99-9	target	inhibitor	4004885 2114832 448162 2963038
Mimosine	L-Mimosine (see all 6)	500-44-7	target	inhibitor	6234942 16750372 15577244 3094574
NADH	beta-DPNH (see all 18)	606-68-8	target	--	16790533 17292452
Monobenzone	Benzoquin (see all 13)	103-16-2	target	inhibitor	19159217

10/147 Novoseek 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 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
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Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
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

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Additional cDNA sequence:

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):

M27160 BQ678960 BQ424558 BU154819 BU732939 BU156904 BG575202 CA396680

BM453335 U01873 BU191334 NM_000372 BQ439755 BU190117 BV203112 Y00819

N23994 BX102971 N20574 AI221879 BE893561 BU189475 BG576440 H96875

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)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GAGAAAGAGG

About this image

TYR expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Eye

Retinal Pigmented Epithelium

Retinal Pigmented Epithelium Progenitor Cells

Retinal Pigmented Epithelium

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

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
Assay Products:

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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 4/14 species (see all 14) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
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	--	74(a)	1 ↔ 1	3(199047444-199123973)
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, UniProtKB, 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

SNP ID	Valid	Clinical significance	Chr 11 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs61753178^1,2	C	pathogenic	88911182(+)	`ATTTCC/TCTAGA`	2	P S	mis¹		0	--	--	--	--
rs28940878^1,2	C	pathogenic	88911246(+)	`CGGGGA/GCAGGA`	2	D G	mis¹ ese³		1		NA	2
rs61753180^1,2	C,	pathogenic	88911261(+)	`CTGTGA/GCCAGC`	2	D G	mis¹		0	--	--	--	--
rs28940879^1,2	C,	pathogenic	88911285(+)	`TTCCTA/C/GTCAGA`	3	Y S C	mis¹ ese³		1		NA	2
rs61753185^1,2	C,	pathogenic	88911351(+)	`TGACCG/AGGAGT`	2	/Q /R	mis¹		1		NA	4544
rs28940877^1,2	C	pathogenic	88911386(+)	`GGACCT/CGCCAG`	2	/R /C	mis¹ ese³		2		NA	4
rs61753190^1,2	C	pathogenic	88911407(+)	`CTTCA-/ATGGGA`	2	M NG	fra¹		0	--	--	--	--
rs61754360^1,2	C	pathogenic	88911654(+)	`TGTCTA/GGATGC`	2	* W	stg¹		0	--	--	--	--
rs61754361^1,2	C	pathogenic	88911689(+)	`TGCTT-/GGGGGA`	2	G	fra¹		0	--	--	--	--
rs28940880^1,2	C	pathogenic	88911737(+)	`CACCAG/ACTTTT`	2	/T /A	mis¹		1		NA	2

HapMap Linkage Disequilibrium report for TYR (88910620 - 89028927 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 7 variations for TYR
7 CNVs: 85905 66023 5639 75737 6951 53361 43540
Human Gene Mutation Database (HGMD): TYR

Locus Specific Mutation Databases (LSDB): TYR

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat 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, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

TYR for disorders           About GeneDecksing

OMIM gene information: 606933
OMIM disorders: 203100  103470  606952  601800
UniProtKB/Swiss-Prot: TYRO_HUMAN, P14679

Defects in TYR are the cause of albinism oculocutaneous type 1A (OCA1A) [MIM:203100]; also known as tyrosinase

negative oculocutaneous albinism. 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

Defects in TYR are the cause of albinism oculocutaneous type 1B (OCA1B) [MIM:606952]; also known as albinism

yellow mutant type. 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

20/95 diseases for TYR (see all 95): About MalaCards

oculocutaneous albinism albinism skin/hair/eye pigmentation 3, freckling vogt-koyanagi-harada disease

waardenburg syndrome/albinism, digenic albinism, oculocutaneous, type ib albinism, oculocutaneous, type ia waardenburg syndrome/albinism

chediak-higashi syndrome gilles de la tourette syndrome oculocutaneous albinism type 1 hermansky-pudlak syndrome

maple syrup urine disease waardenburg's syndrome oculocutaneous albinism type 2 juvenile xanthogranuloma

prader-willi syndrome posterior uveal melanoma waardenburg syndrome type 2 developmental disabilities

7 diseases from the University of Copenhagen DISEASES database for TYR:

Oculocutaneous albinism Phenylketonuria Pain agnosia Melanoma

Vaccinia Maple syrup urine disease Vascular disease

10/87 Novoseek 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

Oculocutaneous Albinism Type 1

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 1391):
(articles sorted by number of sources associating them with TYR)

Utopia: connect your pdf to the dynamic
world of online information

Tyrosinase gene mutations associated with type IB ('yellow') oculocutaneous albinism. (PubMed id 1903591)^{1, 2, 4} Giebel L.B.... Spritz R.A. (1991)
The tyrosinase gene in gorillas and the albinism of 'Snowflake'. (PubMed id 11153699)^{1, 2, 9} Martinez-Arias R.... Bertranpetit J. (2000)
A genomewide association study of skin pigmentation in a South Asian population. (PubMed id 17999355)^{1, 2, 9} Stokowski R.P....Cox D.R. (2007)
Detection of 53 novel DNA variations within the tyrosinase gene and accumulation of mutations in 17 patients with albinism. (PubMed id 15146472)^{1, 2, 9} Opitz S.... Zuehlke C. (2004)
Susceptibility and outcome in MS: associations with polymorphisms in pigmentation-related genes. (PubMed id 15210908)^{1, 4, 9} Partridge J.M....Hawkins C.P. (2004)
A novel mutation of the tyrosinase gene causing oculocutaneous albinism type 1 (OCA1). (PubMed id 11858948)^{1, 2, 9} Nakamura E.... Tomita Y. (2002)
Mutation analysis of the tyrosinase gene in oculocutaneous albinism. (PubMed id 11295837)^{1, 2, 9} Camand O.... Abitbol M. (2001)
Prostate cancer risk: associations with ultraviolet radiation, tyrosinase and melanocortin-1 receptor genotypes. (PubMed id 11720436)^{1, 4, 9} Luscombe C.J....Strange R.C. (2001)
Insertion/deletion mutations of type I oculocutaneous albinism in Chinese patients from Taiwan. (PubMed id 10571953)^{1, 2, 9} Tsai C.-H....Lee C.-C. (1999)
Mutations of the human tyrosinase gene associated with tyrosinase related oculocutaneous albinism (OCA1). (PubMed id 10671066)^{1, 2, 9} Oetting W.S.... King R.A. (1998)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(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

Name	Description
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 gene	http://www.retina-international.org/files/sci-news/tyrmut.htm
Albinism database (ADB)	http://albinismdb.med.umn.edu/oca1mut.html
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/TYR
Protein Spotlight	http://web.expasy.org/spotlight/back_issues/sptlt049.shtml
Wikipedia	http://en.wikipedia.org/wiki/Tyrosinase

Intellectual Property for TYR gene
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Patent Information for TYR gene:
Search GeneIP for patents involving TYR

GeneCards and IP:
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GLAUCOMA, CONGENITAL
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