Loading
OCA2 (P protein) is a gene. In the public catalogues the evidence so far is association rather than a proven role. Tied to Skin cancer, Melanoma and Basal cell carcinoma.
Contributes to a melanosome-specific anion (chloride) current that modulates melanosomal pH for optimal tyrosinase activity required for melanogenesis and the melanosome maturation. One of the components of the mammalian pigmentary system. May serve as a key control point at which ethnic skin colour variation is determined.
Open Targets scores its association with cancer at 0.64 (direct and indirect evidence; datatypes literature 0.45, animal model 0.63, genetic association 0.76).
In plain words · OCA2 (P protein) is a gene. In the public catalogues the evidence so far is association rather than a proven role. Tied to Skin cancer, Melanoma and Basal cell carcinoma.
OCA2 (P protein) is a gene. In the public catalogues the evidence so far is association rather than a proven role. Tied to Skin cancer, Melanoma and Basal cell carcinoma.
Contributes to a melanosome-specific anion (chloride) current that modulates melanosomal pH for optimal tyrosinase activity required for melanogenesis and the melanosome maturation. One of the components of the mammalian pigmentary system.
No product in this corpus aims at OCA2 yet. Drugs bind the molecule precisely: to switch it off, flag the cell for the immune system, or deliver a payload.
First described 1992. Earliest sequence paper UniProt cites for the protein: Gardner J.M. et al, Science, 1992, "The mouse pink-eyed dilution gene: association with human Prader-Willi and Angelman syndromes". Source.
Sources: HGNC HGNC:8101 (approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)); UniProt Q04671 (protein name, function text, keywords and locations (REST API)); Open Targets ENSG00000104044 (association with cancer (MONDO_0004992) 0.64; per-cancer scores at or above 0.5: melanoma 0.59, skin cancer 0.63, basal cell carcinoma 0.54 (GraphQL API, CC0))
Contributes to a melanosome-specific anion (chloride) current that modulates melanosomal pH for optimal tyrosinase activity required for melanogenesis and the melanosome maturation. One of the components of the mammalian pigmentary system. May serve as a key control point at which ethnic skin colour variation is determined. Major determinant of brown and/or blue eye colour. Seems to regulate the post-translational processing of tyrosinase, which catalyses the limiting reaction in melanin synthesis. Location: Melanosome membrane (UniProt). Locus 15q12-q13.1 (HGNC).
Query for this target: (TITLE:"OCA2" OR ABSTRACT:"OCA2" OR TITLE:"OCA2 melanosomal transmembrane protein" OR ABSTRACT:"OCA2 melanosomal transmembrane protein" OR TITLE:"P protein" OR ABSTRACT:"P protein" OR TITLE:"BEY1" OR ABSTRACT:"BEY1" OR TITLE:"BEY2" OR ABSTRACT:"BEY2" OR TITLE:"SLC13B1" OR ABSTRACT:"SLC13B1") AND (cancer OR tumor OR tumour OR oncology OR carcinoma OR lymphoma OR leukemia OR leukaemia OR myeloma OR sarcoma OR melanoma OR glioma). Results are unfiltered search hits about OCA2, not a curated reading list.
Shares Basal cell carcinoma, Skin cancer (all types), Melanoma, Open Targets Platform.
Shares Basal cell carcinoma, Skin cancer (all types), Melanoma, Open Targets Platform.
Shares Basal cell carcinoma, Skin cancer (all types), Melanoma, Open Targets Platform.
Shares Basal cell carcinoma, Skin cancer (all types), Open Targets Platform.
Shares Basal cell carcinoma, Skin cancer (all types), Open Targets Platform.
Shares Basal cell carcinoma, Skin cancer (all types), Open Targets Platform.
Shares Basal cell carcinoma, Skin cancer (all types), Open Targets Platform.
Shares Basal cell carcinoma, Skin cancer (all types), Open Targets Platform.