SOX9
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.
Overview
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.
Open 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.
- Target · the protein and the cell it sits on
- Drug · antibody, small molecule, cell or radioligand
- Effect · signal, damage or kill
In plain words · 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.
- 1 · What it is
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.
- 2 · What goes wrong in cancer
Transcription factor that plays a key role in chondrocytes differentiation and skeletal development.
- 3 · How drugs use it
No product in this corpus aims at SOX9 yet. Because the protein is lost rather than overactive, drugs either restore its function or exploit the weakness its loss leaves (synthetic lethality).
External identifiers
Sources: HGNC HGNC:11204 (approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)); UniProt P48436 (protein name, function text, keywords and locations (REST API)); Open Targets ENSG00000125398 (association with cancer (MONDO_0004992) 0.68; per-cancer scores at or above 0.5: colorectal cancer 0.64 (GraphQL API, CC0)); IntOGen SOX9 (driver in 5 cohorts (Act 0, LoF 5); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0)
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).
- Colorectal cancer: Open Targets association 0.64 with colorectal cancer (MONDO_0005575); IntOGen driver in 5 cohorts (COAD, COADREAD)
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: 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.
Latest papers
topQuery for this target: (TITLE:"SOX9" OR ABSTRACT:"SOX9" OR TITLE:"SRY-box transcription factor 9" OR ABSTRACT:"SRY-box transcription factor 9" OR TITLE:"Transcription factor SOX-9" OR ABSTRACT:"Transcription factor SOX-9" OR TITLE:"SRA1" OR ABSTRACT:"SRA1" OR TITLE:"CMD1" OR ABSTRACT:"CMD1" OR TITLE:"CMPD1" OR ABSTRACT:"CMPD1") 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 SOX9, not a curated reading list.