Gene table of TYR : tyrosinase

Gene-disease associations table

Disease ID	Disease name	Source of annotation with TYR	OMIM link	Number of associated genes	genes
PS155600	MELANOMA, CUTANEOUS MALIGNANT	ClinVar	link to OMIM	11	STK11, POT1, BRAF, TERT, PTEN, CDKN2A, MITF, TYR, MC1R, CDK4, XRCC3
PS203100	OCULOCUTANEOUS ALBINISM	ClinVar, OMIM, HUMSAVAR	link to OMIM	7	SLC45A2, C10orf11, TYRP1, OCA2, TYR, MC1R, SLC24A5
PS193500	WAARDENBURG SYNDROME	OMIM	link to OMIM	7	PAX3, EDN3, EDNRB, MITF, SOX10, TYR, SNAI2
PS227220	SKIN/HAIR/EYE PIGMENTATION, VARIATION IN	ClinVar, OMIM	link to OMIM	12	SLC45A2, KITLG, TYRP1, SLC24A4, ASIP, TPCN2, IRF4, HERC2, TYR, MC1R, SLC24A5, OCA2

Associated genes in ENSEMBL

Associated proteins - SwissProt Accession ID

Associated PDB IDs

Cytogenetic Band

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

Associated KEGG pathways

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
Metabolism of amino acids and derivatives	R-HSA-71291	5.4
Metabolism	R-HSA-1430728	2.34
Melanin biosynthesis	R-HSA-5662702	11.98

Associated GO terms for Molecular function

GO term	GO ID	GO IC
oxidoreductase activity	GO:0016491	3.12
cation binding	GO:0043169	1.4
monooxygenase activity	GO:0004497	5.1
oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen	GO:0016716	8.64
monophenol monooxygenase activity	GO:0004503	9.74
transition metal ion binding	GO:0046914	2.48
metal ion binding	GO:0046872	1.41
protein heterodimerization activity	GO:0046982	3.64
oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	GO:0016705	4.65
ion binding	GO:0043167	1.36
catalytic activity	GO:0003824	1.05
binding	GO:0005488	0.18
protein binding	GO:0005515	0.46
protein dimerization activity	GO:0046983	2.72
copper ion binding	GO:0005507	5.71
identical protein binding	GO:0042802	2.63
protein homodimerization activity	GO:0042803	3.16