OCA2
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.
Overview
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).
- Target · the protein and the cell it sits on
- Drug · antibody, small molecule, cell or radioligand
- Effect · signal, damage or kill
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.
- 1 · What it is
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.
- 2 · What goes wrong in cancer
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.
- 3 · How drugs use it
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.
External identifiers
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))
Biology
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).
- Skin cancer: Open Targets association 0.63 with skin cancer (MONDO_0002898)
- Melanoma: Open Targets association 0.59 with melanoma (MONDO_0005105)
- Basal cell carcinoma: Open Targets association 0.54 with basal cell carcinoma (MONDO_0020804)
Notes
top- Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier "association-only" is the strongest of those signals.
- Prevalence not recorded: none of the sources gives a positivity rate.
Latest papers
topQuery 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.
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