U2AF1
U2AF1 (Splicing factor U2AF 35 kDa subunit) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Myeloproliferative neoplasms, Leukaemia, Lung cancer and 5 more.
Overview
Plays a critical role in both constitutive and enhancer-dependent splicing by mediating protein-protein interactions and protein-RNA interactions required for accurate 3'-splice site selection. Recruits U2 snRNP to the branch point. Directly mediates interactions between U2AF2 and proteins bound to the enhancers and thus may function as a bridge between U2AF2 and the enhancer complex to recruit it to the adjacent intron.
CIViC holds 9 clinical evidence items and 0 assertions across 4 variants. Open Targets scores its association with cancer at 0.76 (direct and indirect evidence; datatypes affected pathway 0.61, literature 0.93, genetic association 0.00, somatic mutation 0.97, animal model 0.53). IntOGen calls it a driver in 15 cohorts (15 activating, 0 loss-of-function), covering Acute Myeloid Leukaemia, Cholangiocarcinoma, Lung Adenocarcinoma, Non-Small Cell Lung Cancer, Pancreatic Adenocarcinoma, Prostate Adenocarcinoma and others.
- Target · the protein and the cell it sits on
- Drug · antibody, small molecule, cell or radioligand
- Effect · signal, damage or kill
In plain words · U2AF1 (Splicing factor U2AF 35 kDa subunit) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Myeloproliferative neoplasms, Leukaemia, Lung cancer and 5 more.
- 1 · What it is
U2AF1 (Splicing factor U2AF 35 kDa subunit) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Myeloproliferative neoplasms, Leukaemia, Lung cancer and 5 more.
- 2 · What goes wrong in cancer
Plays a critical role in both constitutive and enhancer-dependent splicing by mediating protein-protein interactions and protein-RNA interactions required for accurate 3'-splice site selection. Recruits U2 snRNP to the branch point.
- 3 · How drugs use it
No product in this corpus aims at U2AF1 yet. Drugs fit a pocket that exists only in one shape of the mutant protein and hold it there, off.
External identifiers
Sources: HGNC HGNC:12453 (approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)); UniProt Q01081 (protein name, function text, keywords and locations (REST API)); CIViC gene U2AF1 (9 evidence items, 0 assertions, 4 variants; diseases: Acute Myeloid Leukaemia, Myelodysplastic Syndrome, Myelofibrosis (GraphQL API, CC0)); Open Targets ENSG00000160201 (association with cancer (MONDO_0004992) 0.76; per-cancer scores at or above 0.5: non-small cell lung carcinoma 0.60, melanoma 0.52, acute myeloid leukaemia 0.64, skin cancer 0.52, myeloproliferative neoplasm 0.70, lung cancer 0.64 (GraphQL API, CC0)); IntOGen U2AF1 (driver in 15 cohorts (Act 15, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0)
Biology
Plays a critical role in both constitutive and enhancer-dependent splicing by mediating protein-protein interactions and protein-RNA interactions required for accurate 3'-splice site selection. Recruits U2 snRNP to the branch point. Directly mediates interactions between U2AF2 and proteins bound to the enhancers and thus may function as a bridge between U2AF2 and the enhancer complex to recruit it to the adjacent intron. Location: Nucleus; Nucleus speckle (UniProt). Locus 21q22.3 (HGNC).
- Myeloproliferative neoplasms: Open Targets association 0.70 with myeloproliferative neoplasm (MONDO_0020076)
- Leukaemia: Open Targets association 0.70 with leukaemia (MONDO_0005059)
- Lung cancer: Open Targets association 0.64 with lung cancer (MONDO_0008903)
- Pancreatic ductal adenocarcinoma: IntOGen driver in 4 cohorts (PAAD)
- Myelodysplastic syndromes / neoplasms: CIViC evidence names this disease
- Prostate cancer: IntOGen driver in 1 cohort (PRAD)
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 15 cohorts; CIViC holds 9 clinical evidence items on its variants. 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: Myelofibrosis.
Latest papers
topQuery for this target: (TITLE:"U2AF1" OR ABSTRACT:"U2AF1" OR TITLE:"U2 small nuclear RNA auxiliary factor 1" OR ABSTRACT:"U2 small nuclear RNA auxiliary factor 1" OR TITLE:"Splicing factor U2AF 35 kDa subunit" OR ABSTRACT:"Splicing factor U2AF 35 kDa subunit" OR TITLE:"U2AF35" OR ABSTRACT:"U2AF35" OR TITLE:"RNU2AF1" OR ABSTRACT:"RNU2AF1" OR TITLE:"U2AFBP" OR ABSTRACT:"U2AFBP") 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 U2AF1, not a curated reading list.
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