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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.
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.
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.
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.
Transcriptional repressor; binds to the DNA sequence 5'-CCGGAAGT-3'. Plays a role in haematopoiesis and malignant transformation.
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.
Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance) and a tumour suppressor (IntOGen finds it knocked out more often than chance) and a fusion partner (UniProt records a translocation), so the direction differs between cohorts but the alteration is somatic either way; what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA ETV6: RNA low tissue specificity; high antibody staining in 1 normal tissue; highest cancer staining breast cancer (3 of 9 high). Distribution: 6 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Leukaemia, Myeloid neoplasms, Lymphoma, Sarcomas (soft tissue, bone, GIST), Bladder & urothelial cancer, Breast cancer (all types)); Open Targets associates it with 3 specific cancer types at or above 0.5 (thrombocytopenia 5, acute myeloid leukemia, acute lymphoblastic leukemia). (Rule 6 of scripts/fetch-target-specificity.ts.)
Sources: UniProt P41212; CIViC gene ETV6; IntOGen ETV6; Human Protein Atlas ETV6 tissue; Open Targets ENSG00000139083 associations
First described 1994. Earliest sequence paper UniProt cites for the protein: Golub T.R. et al, Cell, 1994, "Fusion of PDGF receptor beta to a novel ets-like gene, tel, in chronic myelomonocytic leukemia with t(5;12) chromosomal translocation". Source.
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)
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).
RNA: low tissue specificity, detected in all normal tissues.
Medium: Appendix, Breast, Cervix, Esophagus, Gallbladder, Heart muscle, Nasopharynx, Pancreas.
Medium only: colorectal cancer, liver cancer, melanoma, pancreatic cancer.
Human Protein Atlas version 25.1, antibody staining at reliability approved, enhanced or supported; used under CC BY-SA 3.0. Staining counts are patients per level in the atlas cohort, not population prevalence.
Query 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.
Shares Myelodysplastic syndromes / neoplasms (MDS), Myeloproliferative neoplasms (PV, ET, myelofibrosis), Leukaemia (all types), Sarcomas (soft tissue, bone, GIST).
Shares Myelodysplastic syndromes / neoplasms (MDS), Myeloproliferative neoplasms (PV, ET, myelofibrosis), Leukaemia (all types), Bladder & urothelial cancer.
Shares Myelodysplastic syndromes / neoplasms (MDS), Myeloproliferative neoplasms (PV, ET, myelofibrosis), Leukaemia (all types), Bladder & urothelial cancer.
Shares Myeloproliferative neoplasms (PV, ET, myelofibrosis), Leukaemia (all types), Sarcomas (soft tissue, bone, GIST), Bladder & urothelial cancer.
Shares Leukaemia (all types), Acute lymphoblastic leukaemia, CIViC, IntOGen.
Shares Myelodysplastic syndromes / neoplasms (MDS), Myeloproliferative neoplasms (PV, ET, myelofibrosis), Leukaemia (all types), Acute lymphoblastic leukaemia.
Shares Myelodysplastic syndromes / neoplasms (MDS), Myeloproliferative neoplasms (PV, ET, myelofibrosis), Leukaemia (all types), Acute lymphoblastic leukaemia.
Shares Myelodysplastic syndromes / neoplasms (MDS), Myeloproliferative neoplasms (PV, ET, myelofibrosis), Leukaemia (all types), Acute lymphoblastic leukaemia.