{"entity":{"id":"sox9","kind":"target","name":"SOX9","aka":["SRY-box transcription factor 9","Transcription factor SOX-9","SRA1","CMD1","CMPD1"],"tldr":"SOX9 (Transcription factor SOX-9) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Colorectal cancer.","summary":"Transcription factor that plays a key role in chondrocytes differentiation and skeletal development. Specifically binds the 5'-ACAAAG-3' DNA motif present in enhancers and super-enhancers and promotes expression of genes important for chondrogenesis, including cartilage matrix protein-coding genes COL2A1, COL4A2, COL9A1, COL11A2 and ACAN, SOX5 and SOX6. Also binds to some promoter regions.\n\nOpen Targets scores its association with cancer at 0.68 (direct and indirect evidence; datatypes literature 1.00, animal model 0.51, genetic association 0.66, somatic mutation 0.73). IntOGen calls it a driver in 5 cohorts (0 activating, 5 loss-of-function), covering Colon Adenocarcinoma, Colorectal Adenocarcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:11204","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11204"},{"label":"UniProt P48436","url":"https://www.uniprot.org/uniprotkb/P48436/entry"},{"label":"NCBI Gene 6662","url":"https://www.ncbi.nlm.nih.gov/gene/6662"},{"label":"Ensembl ENSG00000125398","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000125398"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["colorectal"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":["paper-tcga-colorectal-comprehensive-characterization-nature-2012"],"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: IntOGen calls it a loss-of-function (LoF) driver in 5 cohorts. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Colorectal cancer: inactivating mutation in 10 to 12%, one of the three genes the TCGA analysis added to the colorectal driver list with ARID1A and FAM123B (Cancer Genome Atlas Network 2012)."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"SOX9","role":["tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:11204","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11204","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P48436","url":"https://www.uniprot.org/uniprotkb/P48436/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000125398","url":"https://platform.opentargets.org/target/ENSG00000125398/associations","note":"association with cancer (MONDO_0004992) 0.68; per-cancer scores at or above 0.5: colorectal cancer 0.64 (GraphQL API, CC0)"},{"label":"IntOGen SOX9","url":"https://www.intogen.org/search?gene=SOX9","note":"driver in 5 cohorts (Act 0, LoF 5); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:11204","ensembl":"ENSG00000125398","uniprot":"P48436","entrez":"6662","firstDescribed":1994,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Foster J.W. et al, Nature, 1994, \"Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/7990924/","biology":"Transcription factor that plays a key role in chondrocytes differentiation and skeletal development. Specifically binds the 5'-ACAAAG-3' DNA motif present in enhancers and super-enhancers and promotes expression of genes important for chondrogenesis, including cartilage matrix protein-coding genes COL2A1, COL4A2, COL9A1, COL11A2 and ACAN, SOX5 and SOX6. Also binds to some promoter regions. Plays a central role in successive steps of chondrocyte differentiation. Absolutely required for precartilaginous condensation, the first step in chondrogenesis during which skeletal progenitors differentiate into prechondrocytes. Together with SOX5 and SOX6, required for overt chondrogenesis when condensed prechondrocytes differentiate into early stage chondrocytes, the second step in chondrogenesis. Location: Nucleus (UniProt). Locus 17q24.3 (HGNC).","whereFound":["Colorectal cancer: Open Targets association 0.64 with colorectal cancer (MONDO_0005575); IntOGen driver in 5 cohorts (COAD, COADREAD)","Colorectal cancer: inactivating mutation 10-12%"],"targetClass":"tumor-suppressor","prevalence":[{"cancerId":"colorectal","pct":"10-12","measure":"Inactivating mutation","source":"https://www.cbioportal.org/study/summary?id=crc_msk_2026","note":"cBioPortal: 869 of 7,237, 12.0%, in crc_msk_2026; 64 of 534, 12.0%, in coadread_tcga_pan_can_atlas_2018; 62 of 619, 10.0%, in coadread_dfci_2016; 154 of 1,516, 10.2%, in crc_eo_2020; 107 of 1,134, 9.4%, in crc_msk_2017. Named as a new significantly mutated gene by the TCGA analysis (Cancer Genome Atlas Network 2012)."}]},"route":"/targets/sox9/","neighbours":{"collection":[{"id":"intogen","kind":"collection","name":"IntOGen","route":"/collections/intogen/"},{"id":"open-targets","kind":"collection","name":"Open Targets Platform","route":"/collections/open-targets/"}],"cancer":[{"id":"colorectal","kind":"cancer","name":"Colorectal cancer","route":"/cancers/colorectal/"}],"paper":[{"id":"paper-tcga-colorectal-comprehensive-characterization-nature-2012","kind":"paper","name":"Comprehensive molecular characterization of human colon and rectal cancer","route":"/key-papers/paper-tcga-colorectal-comprehensive-characterization-nature-2012/"}]}}