{"entity":{"id":"sox2","kind":"target","name":"SOX2","aka":["SRY-box transcription factor 2","Transcription factor SOX-2"],"tldr":"SOX2 (Transcription factor SOX-2) 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 Colorectal cancer, Skin cancer and Lung cancer.","summary":"Transcription factor that forms a trimeric complex with OCT4 on DNA and controls the expression of a number of genes involved in embryonic development such as YES1, FGF4, UTF1 and ZFP206. Binds to the proximal enhancer region of NANOG. Critical for early embryogenesis and for embryonic stem cell pluripotency.\n\nOpen Targets scores its association with cancer at 0.70 (direct and indirect evidence; datatypes literature 1.00, affected pathway 0.62, animal model 0.69, somatic mutation 0.96).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:11195","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11195"},{"label":"UniProt P48431","url":"https://www.uniprot.org/uniprotkb/P48431/entry"},{"label":"NCBI Gene 6657","url":"https://www.ncbi.nlm.nih.gov/gene/6657"},{"label":"Ensembl ENSG00000181449","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000181449"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["colorectal","skin-cancer","lung-cancer","nsclc","prostate","prostate-mcrpc","prostate-nepc"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["lineage-plasticity-neuroendocrine","transcription-addiction"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":["paper-tcga-lung-squamous-nature-2012","paper-mu-sox2-lineage-plasticity-science-2017","paper-ku-rb1-trp53-lineage-plasticity-science-2017"],"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.","Lung cancer: high-level amplification in about 40% of squamous tumours against 2% of adenocarcinomas, on the 3q26 amplicon with TP63 and PIK3CA (cBioPortal). It is the squamous lineage-survival gene, the counterpart of NKX2-1 in adenocarcinoma, and the central problem of the histology: its commonest alteration is a transcription factor amplicon with no direct drug.","Prostate cancer: SOX2 mediates the shift from androgen receptor-dependent luminal cells to androgen receptor-independent basal-like cells that follows loss of TP53 and RB1, and knocking it down reverses enzalutamide resistance in human models (Mu 2017)."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"SOX2","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:11195","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11195","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P48431","url":"https://www.uniprot.org/uniprotkb/P48431/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000181449","url":"https://platform.opentargets.org/target/ENSG00000181449/associations","note":"association with cancer (MONDO_0004992) 0.70; per-cancer scores at or above 0.5: colorectal cancer 0.55, skin cancer 0.53, lung cancer 0.51 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:11195","ensembl":"ENSG00000181449","uniprot":"P48431","entrez":"6657","firstDescribed":1992,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Sadler L.A. et al, 1992.","firstDescribedSource":"https://www.uniprot.org/uniprotkb/P48431/entry","biology":"Transcription factor that forms a trimeric complex with OCT4 on DNA and controls the expression of a number of genes involved in embryonic development such as YES1, FGF4, UTF1 and ZFP206. Binds to the proximal enhancer region of NANOG. Critical for early embryogenesis and for embryonic stem cell pluripotency. Downstream SRRT target that mediates the promotion of neural stem cell self-renewal. Keeps neural cells undifferentiated by counteracting the activity of proneural proteins and suppresses neuronal differentiation. May function as a switch in neuronal development. Location: Nucleus speckle; Cytoplasm; Nucleus (UniProt). Locus 3q26.33 (HGNC).","whereFound":["Colorectal cancer: Open Targets association 0.55 with colorectal cancer (MONDO_0005575)","Skin cancer: Open Targets association 0.53 with skin cancer (MONDO_0002898)","Lung cancer: Open Targets association 0.51 with lung cancer (MONDO_0008903)","Non-small-cell lung cancer: high-level amplification of the squamous lineage programme 29-43%"],"targetClass":"transcription","prevalence":[{"cancerId":"nsclc","pct":"29-43","measure":"High-level amplification of the squamous lineage programme","source":"https://www.cbioportal.org/study/summary?id=lusc_tcga_pan_can_atlas_2018","note":"cBioPortal high-level amplification: SOX2 194 of 487, 39.8%, and TP63 154 of 487, 31.6%, in lusc_tcga_pan_can_atlas_2018; SOX2 76 of 178, 42.7%, and TP63 51 of 178, 28.7%, in lusc_tcga_pub; SOX2 220 of 1,144, 19.2%, and TP63 176, 15.4%, in the combined nsclc_tcga_broad_2016. In adenocarcinoma the same genes are amplified in 10 of 511 (2.0%) and 10 of 511 (2.0%). The founding paper counted squamous differentiation genes altered in 44% of tumours (Cancer Genome Atlas Research Network 2012)."}]},"route":"/targets/sox2/","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":"prostate-mcrpc","kind":"cancer","name":"Metastatic castration-resistant prostate cancer","route":"/cancers/prostate-mcrpc/"},{"id":"prostate-nepc","kind":"cancer","name":"Neuroendocrine and small-cell prostate cancer","route":"/cancers/prostate-nepc/"},{"id":"nsclc","kind":"cancer","name":"Non-small-cell lung cancer","route":"/cancers/nsclc/"},{"id":"prostate","kind":"cancer","name":"Prostate cancer","route":"/cancers/prostate/"},{"id":"skin-cancer","kind":"cancer","name":"Skin cancer (all types)","route":"/cancers/skin-cancer/"}],"pathway":[{"id":"lineage-plasticity-neuroendocrine","kind":"pathway","name":"Lineage plasticity & neuroendocrine transformation","route":"/pathways/lineage-plasticity-neuroendocrine/"},{"id":"transcription-addiction","kind":"pathway","name":"Transcriptional machinery & addiction","route":"/pathways/transcription-addiction/"}],"paper":[{"id":"paper-tcga-lung-squamous-nature-2012","kind":"paper","name":"Comprehensive genomic characterization of squamous cell lung cancers","route":"/key-papers/paper-tcga-lung-squamous-nature-2012/"},{"id":"paper-ku-rb1-trp53-lineage-plasticity-science-2017","kind":"paper","name":"Rb1 and Trp53 cooperate to suppress prostate cancer lineage plasticity, metastasis and antiandrogen resistance","route":"/key-papers/paper-ku-rb1-trp53-lineage-plasticity-science-2017/"},{"id":"paper-mu-sox2-lineage-plasticity-science-2017","kind":"paper","name":"SOX2 promotes lineage plasticity and antiandrogen resistance in TP53- and RB1-deficient prostate cancer","route":"/key-papers/paper-mu-sox2-lineage-plasticity-science-2017/"}]}}