ETV6
ETV6 (Transcription factor ETV6) is a protein that switches other genes on and off. The public catalogues list it as an oncogene driver, a tumour suppressor, a biomarker and a fusion partner, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Leukaemia, Myeloproliferative neoplasms, Non-Hodgkin lymphoma and 5 more.
Overview
Transcriptional repressor; binds to the DNA sequence 5'-CCGGAAGT-3'. Plays a role in haematopoiesis and malignant transformation.
CIViC holds 9 clinical evidence items and 0 assertions across 7 variants. Open Targets scores its association with cancer at 0.85 (direct and indirect evidence; datatypes genetic literature 0.76, affected pathway 0.95, literature 0.96, genetic association 0.39, somatic mutation 0.86, animal model 0.63). IntOGen calls it a driver in 4 cohorts (3 activating, 1 loss-of-function), covering Acute Lymphoblastic Leukaemia, Bladder Urothelial Carcinoma, Diffuse Large B-Cell Lymphoma, NOS.
- Target · the protein and the cell it sits on
- Drug · antibody, small molecule, cell or radioligand
- Effect · signal, damage or kill
In plain words · ETV6 (Transcription factor ETV6) is a protein that switches other genes on and off. The public catalogues list it as an oncogene driver, a tumour suppressor, a biomarker and a fusion partner, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Leukaemia, Myeloproliferative neoplasms, Non-Hodgkin lymphoma and 5 more.
- 1 · What it is
ETV6 (Transcription factor ETV6) is a protein that switches other genes on and off. The public catalogues list it as an oncogene driver, a tumour suppressor, a biomarker and a fusion partner, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Leukaemia, Myeloproliferative neoplasms, Non-Hodgkin lymphoma and 5 more.
- 2 · What goes wrong in cancer
Transcriptional repressor; binds to the DNA sequence 5'-CCGGAAGT-3'. Plays a role in haematopoiesis and malignant transformation.
- 3 · How drugs use it
No product in this corpus aims at ETV6 yet. Transcription factors have no pocket to plug, so drugs either degrade them or block the partner protein they need to dock on DNA.
External identifiers
Sources: HGNC HGNC:3495 (approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)); UniProt P41212 (protein name, function text, keywords and locations (REST API)); CIViC gene ETV6 (9 evidence items, 0 assertions, 7 variants; diseases: Haematologic Cancer, Acute Lymphoblastic Leukaemia, Myelodysplastic Syndrome (GraphQL API, CC0)); Open Targets ENSG00000139083 (association with cancer (MONDO_0004992) 0.85; per-cancer scores at or above 0.5: sarcoma 0.58, acute myeloid leukaemia 0.64, acute lymphoblastic leukaemia 0.67, non-Hodgkin lymphoma 0.73, myeloproliferative neoplasm 0.75, breast cancer 0.52 (GraphQL API, CC0)); IntOGen ETV6 (driver in 4 cohorts (Act 3, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0)
Biology
Transcriptional repressor; binds to the DNA sequence 5'-CCGGAAGT-3'. Plays a role in haematopoiesis and malignant transformation. Location: Nucleus (UniProt). Locus 12p13.2 (HGNC).
- Leukaemia: Open Targets association 0.79 with leukaemia (MONDO_0005059)
- Myeloproliferative neoplasms: Open Targets association 0.75 with myeloproliferative neoplasm (MONDO_0020076)
- Non-Hodgkin lymphoma: Open Targets association 0.73 with non-Hodgkin lymphoma (MONDO_0018908)
- Myelodysplastic syndromes / neoplasms: CIViC evidence names this disease
- Sarcomas: Open Targets association 0.58 with sarcoma (MONDO_0005089)
- Bladder & urothelial cancer: IntOGen driver in 1 cohort (BLCA)
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 an activating (Act) driver in 3 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 1 cohort; CIViC holds 9 clinical evidence items on its variants; UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier "clinical-evidence" is the strongest of those signals.
- Prevalence not recorded: none of the sources gives a positivity rate.
- Diseases the sources name that have no OnCo cancer page yet, so they are not linked: Haematologic Cancer.
Latest papers
topQuery for this target: (TITLE:"ETV6" OR ABSTRACT:"ETV6" OR TITLE:"ETS variant transcription factor 6" OR ABSTRACT:"ETS variant transcription factor 6" OR TITLE:"Transcription factor ETV6" OR ABSTRACT:"Transcription factor ETV6") 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 ETV6, not a curated reading list.
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