PAX6
PAX6 (Paired box protein Pax-6) is a protein that switches other genes on and off. In the public catalogues the evidence so far is association rather than a proven role. Tied to Renal cell carcinoma.
Overview
Transcription factor with important functions in the development of the eye, nose, central nervous system and pancreas. Required for the differentiation of pancreatic islet alpha cells. Competes with PAX4 in binding to a common element in the glucagon, insulin and somatostatin promoters.
Open Targets scores its association with cancer at 0.82 (direct and indirect evidence; datatypes literature 0.98, animal model 0.87, genetic association 0.89, genetic literature 0.89).
- Target · the protein and the cell it sits on
- Drug · antibody, small molecule, cell or radioligand
- Effect · signal, damage or kill
In plain words · PAX6 (Paired box protein Pax-6) is a protein that switches other genes on and off. In the public catalogues the evidence so far is association rather than a proven role. Tied to Renal cell carcinoma.
- 1 · What it is
PAX6 (Paired box protein Pax-6) is a protein that switches other genes on and off. In the public catalogues the evidence so far is association rather than a proven role. Tied to Renal cell carcinoma.
- 2 · What goes wrong in cancer
Transcription factor with important functions in the development of the eye, nose, central nervous system and pancreas. Required for the differentiation of pancreatic islet alpha cells.
- 3 · How drugs use it
No product in this corpus aims at PAX6 yet. Transcription factors have no pocket to plug, so drugs either degrade them or block the partner protein they need to dock on DNA.
External identifiers
Sources: HGNC HGNC:8620 (approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)); UniProt P26367 (protein name, function text, keywords and locations (REST API)); Open Targets ENSG00000007372 (association with cancer (MONDO_0004992) 0.82; per-cancer scores at or above 0.5: renal cell carcinoma 0.82 (GraphQL API, CC0))
Biology
Transcription factor with important functions in the development of the eye, nose, central nervous system and pancreas. Required for the differentiation of pancreatic islet alpha cells. Competes with PAX4 in binding to a common element in the glucagon, insulin and somatostatin promoters. Regulates specification of the ventral neuron subtypes by establishing the correct progenitor domains. Acts as a transcriptional repressor of NFATC1-mediated gene expression. Location: Nucleus (UniProt). Locus 11p13 (HGNC).
- Renal cell carcinoma: Open Targets association 0.82 with renal cell carcinoma (MONDO_0005086)
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:"PAX6" OR ABSTRACT:"PAX6" OR TITLE:"paired box 6" OR ABSTRACT:"paired box 6" OR TITLE:"Paired box protein Pax-6" OR ABSTRACT:"Paired box protein Pax-6" OR TITLE:"D11S812E" OR ABSTRACT:"D11S812E" OR TITLE:"AN1" OR ABSTRACT:"AN1" OR TITLE:"AN2" OR ABSTRACT:"AN2") 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 PAX6, not a curated reading list.