ADHDgene Database

Gene Report

Basic Info

Approved Symbol	TYR
Symbol Alias	OCAIA
Approved Name	tyrosinase (oculocutaneous albinism IA)
Location	11q14-q21
Position	chr11:88910620-89028927, +
External Links	HGNC: 12442 Entrez Gene: 7299 Ensembl: ENSG00000077498 UCSC: uc001pcs.2
No. of Studies	0 (significant: 0; non-significant: 0; trend: 0)
Source	Mapped by significant region

Gene related studies (count: 0)

Gene related SNPs (count: 0)

Gene related CNVs (count: 0)

Gene related other variant (count: 0)

Gene related regions (count: 1)

Region Name	Position	No. of Studies (significant/non-significant/trend)
11q	chr11:53700000-135006516	2 (1/1/0)

Gene related GO terms (count: 17)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0042470	melanosome	Cellular Component		22
GO:0042803	protein homodimerization activity	Molecular Function		113
GO:0046982	protein heterodimerization activity	Molecular Function		68
GO:0048471	perinuclear region of cytoplasm	Cellular Component	IDA[11092760]	87
GO:0048538	thymus development	Biological Process		14
GO:0005798	Golgi-associated vesicle	Cellular Component	TAS[10823941]	5
GO:0005764	lysosome	Cellular Component	TAS[11092760]	31
GO:0006726	eye pigment biosynthetic process	Biological Process	TAS[7704033]	2
GO:0006583	melanin biosynthetic process from tyrosine	Biological Process	TAS[7704033]	1
GO:0008283	cell proliferation	Biological Process		60
GO:0007601	visual perception	Biological Process	TAS[7704033]	30
GO:0033162	melanosome membrane	Cellular Component		4
GO:0016021	integral to membrane	Cellular Component		845
GO:0005507	copper ion binding	Molecular Function	IMP[11092760]	9
GO:0004503	monophenol monooxygenase activity	Molecular Function	IDA[11092760]	1
GO:0005737	cytoplasm	Cellular Component	IDA[11092760]	690
GO:0005515	protein binding	Molecular Function	IPI[16162817]	910

Gene related KEGG pathways (count: 4)

ID	Name	No. of Genes in ADHDgene	Brief Description
hsa01100	Metabolic pathways	237
hsa00740	Riboflavin metabolism	4
hsa00350	Tyrosine metabolism	15
hsa04916	Melanogenesis	15	Cutaneous melanin pigment plays a critical role in camouflag...... Cutaneous melanin pigment plays a critical role in camouflage, mimicry, social communication, and protection against harmful effects of solar radiation. Melanogenesis is under complex regulatory control by multiple agents. The most important positive regulator of melanogenesis is the MC1 receptor with its ligands melanocortic peptides. MC1R activates the cyclic AMP (cAMP) response-element binding protein (CREB). Increased expression of MITF and its activation by phosphorylation (P) stimulate the transcription of tyrosinase (TYR), tyrosinase-related protein 1 (TYRP1), and dopachrome tautomerase (DCT), which produce melanin. Melanin synthesis takes place within specialized intracellular organelles named melanosomes. Melanin-containing melanosomes then move from the perinuclear region to the dendrite tips and are transferred to keratinocytes by a still not well-characterized mechanism. More...

Genes shared at least 5 GO terms with TYR (count: 4)

Gene Symbol	Pathway Count	Pathway List
OCA2	6	eye pigment biosynthetic process; cell proliferation; melanosome membrane; integral to membrane; cytoplasm; protein binding;
TPD52L1	5	protein homodimerization activity; protein heterodimerization activity; perinuclear region of cytoplasm; cytoplasm; protein binding;
ALG2	5	protein heterodimerization activity; perinuclear region of cytoplasm; integral to membrane; cytoplasm; protein binding;
ERBB2	5	protein heterodimerization activity; perinuclear region of cytoplasm; cell proliferation; integral to membrane; protein binding;

Genes shared at least 2 KEGG pathways with TYR (count: 14)

Gene Symbol	Pathway Count	Pathway List
ALDH3A1	2	Metabolic pathways; Tyrosine metabolism;
ALDH3B1	2	Metabolic pathways; Tyrosine metabolism;
ALDH3B2	2	Metabolic pathways; Tyrosine metabolism;
COMT	2	Metabolic pathways; Tyrosine metabolism;
DBH	2	Metabolic pathways; Tyrosine metabolism;
DDC	2	Metabolic pathways; Tyrosine metabolism;
ENPP1	2	Metabolic pathways; Riboflavin metabolism;
ENPP3	2	Metabolic pathways; Riboflavin metabolism;
MAOA	2	Metabolic pathways; Tyrosine metabolism;
MAOB	2	Metabolic pathways; Tyrosine metabolism;
PLCB2	2	Metabolic pathways; Melanogenesis;
PLCB3	2	Metabolic pathways; Melanogenesis;
PNMT	2	Metabolic pathways; Tyrosine metabolism;
TH	2	Metabolic pathways; Tyrosine metabolism;

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Region: chr11:88910620..89028927 View in gBrowse