Gene table of OCA2 : OCA2 melanosomal transmembrane protein

Gene-disease associations table

Disease ID	Disease name	Source of annotation with OCA2	OMIM link	Number of associated genes	genes
PS203100	OCULOCUTANEOUS ALBINISM	ClinVar, OMIM, HUMSAVAR	link to OMIM	7	SLC45A2, C10orf11, TYRP1, OCA2, TYR, MC1R, SLC24A5
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

Associated GO terms for Molecular function

GO term	GO ID	GO IC
substrate-specific transmembrane transporter activity	GO:0022891	2.9
substrate-specific transporter activity	GO:0022892	2.72
organic acid transmembrane transporter activity	GO:0005342	4.97
L-tyrosine transmembrane transporter activity	GO:0005302	9.74
transporter activity	GO:0005215	2.57
transmembrane transporter activity	GO:0022857	2.82
binding	GO:0005488	0.18
protein binding	GO:0005515	0.46
aromatic amino acid transmembrane transporter activity	GO:0015173	8.64
amino acid transmembrane transporter activity	GO:0015171	5.38
carboxylic acid transmembrane transporter activity	GO:0046943	4.99
L-amino acid transmembrane transporter activity	GO:0015179	6.0