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AFF4 (AF4/FMR2 family member 4) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver and a fusion partner, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Hepatocellular carcinoma, Skin cancer, Colorectal cancer and 3 more.
Key component of the super elongation complex (SEC), a complex required to increase the catalytic rate of RNA polymerase II transcription by suppressing transient pausing by the polymerase at multiple sites along the DNA. In the SEC complex, AFF4 acts as a central scaffold that recruits other factors through direct interactions with ELL proteins (ELL, ELL2 or ELL3) and the P-TEFb complex. In case of infection by HIV-1 virus, the SEC complex is recruited by the viral Tat protein to stimulate viral gene expression.
Open Targets scores its association with cancer at 0.67 (direct and indirect evidence; datatypes literature 0.87, genetic association 0.31, somatic mutation 0.81). IntOGen calls it a driver in 1 cohort (1 activating, 0 loss-of-function), covering Hepatocellular Carcinoma.
In plain words · AFF4 (AF4/FMR2 family member 4) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver and a fusion partner, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Hepatocellular carcinoma, Skin cancer, Colorectal cancer and 3 more.
AFF4 (AF4/FMR2 family member 4) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver and a fusion partner, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Hepatocellular carcinoma, Skin cancer, Colorectal cancer and 3 more.
Key component of the super elongation complex (SEC), a complex required to increase the catalytic rate of RNA polymerase II transcription by suppressing transient pausing by the polymerase at multiple sites along the DNA.
No product in this corpus aims at AFF4 yet. Drugs fit a pocket that exists only in one shape of the mutant protein and hold it there, off.
First described 1999. Earliest sequence paper UniProt cites for the protein: Taki et al, Proc. Natl. Acad. Sci. U.S.A, 1999, "AF5q31, a newly identified AF4-related gene, is fused to MLL in infant acute lymphoblastic leukemia with ins(5;11)(q31;q13q23)". Source.
Sources: HGNC HGNC:17869 (approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)); UniProt Q9UHB7 (protein name, function text, keywords and locations (REST API)); Open Targets ENSG00000072364 (association with cancer (MONDO_0004992) 0.67; per-cancer scores at or above 0.5: colorectal cancer 0.52, melanoma 0.52, skin cancer 0.54, breast cancer 0.52, lung cancer 0.51 (GraphQL API, CC0)); IntOGen AFF4 (driver in 1 cohort (Act 1, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0)
Key component of the super elongation complex (SEC), a complex required to increase the catalytic rate of RNA polymerase II transcription by suppressing transient pausing by the polymerase at multiple sites along the DNA. In the SEC complex, AFF4 acts as a central scaffold that recruits other factors through direct interactions with ELL proteins (ELL, ELL2 or ELL3) and the P-TEFb complex. In case of infection by HIV-1 virus, the SEC complex is recruited by the viral Tat protein to stimulate viral gene expression. Location: Nucleus; Chromosome (UniProt). Locus 5q31.1 (HGNC).
Query for this target: (TITLE:"AFF4" OR ABSTRACT:"AFF4" OR TITLE:"ALF transcription elongation factor 4" OR ABSTRACT:"ALF transcription elongation factor 4" OR TITLE:"AF4/FMR2 family member 4" OR ABSTRACT:"AF4/FMR2 family member 4" OR TITLE:"AF5Q31" OR ABSTRACT:"AF5Q31") 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 AFF4, not a curated reading list.