# PAX6

Source: https://onco.cc/targets/pax6/  
OnCo record `pax6` (Target). Data CC BY-NC 4.0, attribute "Data from OnCo (onco.cc)"; commercial use needs a licence.

## TL;DR

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.

## Summary

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).

## Fields

- Kind: Target
- Last checked: 2026-09-23
- Also known as: paired box 6; Paired box protein Pax-6; D11S812E; AN1; AN2
- Tags: cancer-genes-wave
- Symbol: PAX6
- Class: transcription
- 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).
- Where found: Renal cell carcinoma: Open Targets association 0.82 with renal cell carcinoma (MONDO_0005086)

## Notes

- 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.

## Sources

- HGNC HGNC:8620: https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8620
- UniProt P26367: https://www.uniprot.org/uniprotkb/P26367/entry
- NCBI Gene 5080: https://www.ncbi.nlm.nih.gov/gene/5080
- Ensembl ENSG00000007372: https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000007372

## Connected records

- collections: [Open Targets Platform](https://onco.cc/collections/open-targets/)
- cancers: [Renal cell carcinoma](https://onco.cc/cancers/rcc/)

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JSON: https://onco.cc/api/v1/entities/pax6.json