{"entity":{"id":"phox2b","kind":"target","name":"PHOX2B","aka":["paired like homeobox 2B","Paired mesoderm homeobox protein 2B","NBPhox","PMX2B"],"tldr":"PHOX2B (Paired mesoderm homeobox protein 2B) 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 Skin cancer, Colorectal cancer, Lung cancer and 2 more.","summary":"Involved in the development of several major noradrenergic neuron populations, including the locus coeruleus. Transcription factor which could determine a neurotransmitter phenotype in vertebrates. Enhances second-messenger-mediated activation of the dopamine beta-hydrolase and c-fos promoters, and of several enhancers including cAMP-response element and serum-response element.\n\nOpen Targets scores its association with cancer at 0.62 (direct and indirect evidence; datatypes literature 0.62, animal model 0.55, genetic association 0.02, somatic mutation 0.97).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:9143","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9143"},{"label":"UniProt Q99453","url":"https://www.uniprot.org/uniprotkb/Q99453/entry"},{"label":"NCBI Gene 8929","url":"https://www.ncbi.nlm.nih.gov/gene/8929"},{"label":"Ensembl ENSG00000109132","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000109132"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["skin-cancer","colorectal","lung-cancer","neuroblastoma","melanoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"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."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PHOX2B","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:9143","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9143","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q99453","url":"https://www.uniprot.org/uniprotkb/Q99453/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000109132","url":"https://platform.opentargets.org/target/ENSG00000109132/associations","note":"association with cancer (MONDO_0004992) 0.62; per-cancer scores at or above 0.5: colorectal cancer 0.53, melanoma 0.57, neuroblastoma 0.63, skin cancer 0.56, lung cancer 0.52 (GraphQL API, CC0)"}],"hgnc":"HGNC:9143","ensembl":"ENSG00000109132","uniprot":"Q99453","entrez":"8929","biology":"Involved in the development of several major noradrenergic neuron populations, including the locus coeruleus. Transcription factor which could determine a neurotransmitter phenotype in vertebrates. Enhances second-messenger-mediated activation of the dopamine beta-hydrolase and c-fos promoters, and of several enhancers including cAMP-response element and serum-response element. Location: Nucleus (UniProt). Locus 4p13 (HGNC).","whereFound":["Skin cancer: Open Targets association 0.56 with skin cancer (MONDO_0002898)","Colorectal cancer: Open Targets association 0.53 with colorectal cancer (MONDO_0005575)","Lung cancer: Open Targets association 0.52 with lung cancer (MONDO_0008903)","Neuroblastoma: Open Targets association 0.63 with neuroblastoma (MONDO_0005072)","Melanoma: Open Targets association 0.57 with melanoma (MONDO_0005105)"],"targetClass":"transcription","prevalence":[]},"route":"/targets/phox2b/","neighbours":{"collection":[{"id":"open-targets","kind":"collection","name":"Open Targets Platform","route":"/collections/open-targets/"}],"cancer":[{"id":"colorectal","kind":"cancer","name":"Colorectal cancer","route":"/cancers/colorectal/"},{"id":"lung-cancer","kind":"cancer","name":"Lung cancer (all types)","route":"/cancers/lung-cancer/"},{"id":"melanoma","kind":"cancer","name":"Melanoma","route":"/cancers/melanoma/"},{"id":"neuroblastoma","kind":"cancer","name":"Neuroblastoma (paediatric)","route":"/cancers/neuroblastoma/"},{"id":"skin-cancer","kind":"cancer","name":"Skin cancer (all types)","route":"/cancers/skin-cancer/"}]}}