Gene Report

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Basic Info

Approved Symbol	TYR
Symbol Alias	OCAIA, OCA1A, OCA1
Approved Name	tyrosinase
Name Alias	oculocutaneous albinism IA
Location	11q14.3
Position	chr11:89177452-89295759, 1
External Links	HGNC: 12442 Entrez Gene: 7299 Ensembl: ENSG00000077498 UCSC: uc001pcs.3
No. of Studies	1 (Positive: 0; Negative: 1; trend: 0)
Overlap with SZ?	YES
Overlap with MDD?	NO

Gene related studies (count: 1)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
De bruyn, A.,1994	Other variant: TYR_(GA)n - (CA)n	Two-point linkage results excluded close linkage of bipolar illness to each candidate gene, and negative linkage results were obtained with the candidate genes DRD4, TH, TYR, and DRD2 under different genetic and phenotypic conditions	Negative	Comment on Study

Gene functional annotation

Gene related GO terms (count: 19)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0016021	integral component of membrane	cellular component	IEA	219
GO:0005764	lysosome	cellular component	TAS[11092760]	16

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0046982	protein heterodimerization activity	molecular function	ISS	42
GO:0005737	cytoplasm	cellular component	IDA[11092760]	322
GO:0005507	copper ion binding	molecular function	IMP[11092760]	4
GO:0048538	thymus development	biological process	IEA	5
GO:0048471	perinuclear region of cytoplasm	cellular component	IDA[11092760]	50
GO:0042470	melanosome	cellular component	ISS	15
GO:0006726	eye pigment biosynthetic process	biological process	TAS[7704033]	1
GO:0004503	monophenol monooxygenase activity	molecular function	IDA[11092760]	1
GO:0006583	melanin biosynthetic process from tyrosine	biological process	TAS[7704033]	1
GO:0008283	cell proliferation	biological process	IEA	37
GO:0033162	melanosome membrane	cellular component	IEA	3
GO:0005515	protein binding	molecular function	IPI[16162817]	563
GO:0042803	protein homodimerization activity	molecular function	ISS	71
GO:0042438	melanin biosynthetic process	biological process	IDA[8126111]	1
GO:0055114	oxidation-reduction process	biological process	IEA	43
GO:0007601	visual perception	biological process	TAS[7704033]	15
GO:0005798	Golgi-associated vesicle	cellular component	TAS[10823941]	1

Gene related KEGG pathways (count: 4)

ID	Name	No. of Genes in BDgene
hsa00350	Tyrosine metabolism	8
hsa00740	Riboflavin metabolism	2
hsa04916	Melanogenesis	16
hsa00950	Alkaloid biosynthesis I	2

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 1)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
TYR	TYRP1	NO	in vivo	14623273

Related other genetic factors

Gene related SNPs (count: 0)

Gene related CNVs (count: 0)

Gene related other variants (count: 1)

Variant Name	Variant Type	Location in Gene	No. of Studies (Positive/Negative/Trend)
TYR_(GA)n - (CA)n	duplication		1 (0/1/0)

Gene related regions (count: 5)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
11q14.1-14.3	chr11:77400000-93000000	1 (0/1/0)
11q14-q21	chr11:77100000-92800000	1 (0/1/0)
11q14.3	chr11:88600000-93000000	1 (0/0/1)
Chr 11	chr11:0-135086622	2 (0/2/0)
11q14.3-11q21	chr11:22000000-97400000	1 (0/0/1)

Overlap with schizophrenia (SZ) and major depressive disorder (MDD)

Gene relationship with SZ

Reference	ID in SZGene	Result Category
7909989	112	Negative

Gene relationship with MDD

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Region: chr11:89177452..89295759 View in gBrowse