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SETD2 (Histone-lysine N-methyltransferase SETD2) is a protein that switches other genes on and off. The public catalogues list it as a drug target, an oncogene driver, a tumour suppressor, a biomarker and a DNA repair gene, and an approved or late-stage drug is recorded against it. Tied to Renal cell carcinoma, Leukaemia, Non-Hodgkin lymphoma and 5 more.
Histone methyltransferase that specifically trimethylates 'Lys-36' of histone H3 (H3K36me3) using dimethylated 'Lys-36' (H3K36me2) as substrate. It is capable of trimethylating unmethylated H3K36 (H3K36me0) in vitro. Represents the main enzyme generating H3K36me3, a specific tag for epigenetic transcriptional activation.
CIViC holds 3 clinical evidence items and 0 assertions across 2 variants, naming Akt Inhibitor MK2206, PI3Kbeta Inhibitor AZD8186, Samotolisib and Anti-PD1 Monoclonal Antibody and others. Open Targets scores its association with cancer at 0.81 (direct and indirect evidence; datatypes genetic literature 0.38, affected pathway 0.76, literature 0.99, genetic association 0.36, somatic mutation 0.94). IntOGen calls it a driver in 34 cohorts (1 activating, 33 loss-of-function), covering Acute Lymphoblastic Leukaemia, Renal Clear Cell Carcinoma, Chronic Lymphocytic Leukaemia/Small Lymphocytic Lymphoma, Oesophagogastric Adenocarcinoma, Ewing Sarcoma, Glioblastoma and others. In OnCo, 1 product record names it (Temsirolimus).
In plain words · SETD2 (Histone-lysine N-methyltransferase SETD2) is a protein that switches other genes on and off. The public catalogues list it as a drug target, an oncogene driver, a tumour suppressor, a biomarker and a DNA repair gene, and an approved or late-stage drug is recorded against it. Tied to Renal cell carcinoma, Leukaemia, Non-Hodgkin lymphoma and 5 more.
SETD2 (Histone-lysine N-methyltransferase SETD2) is a protein that switches other genes on and off. The public catalogues list it as a drug target, an oncogene driver, a tumour suppressor, a biomarker and a DNA repair gene, and an approved or late-stage drug is recorded against it. Tied to Renal cell carcinoma, Leukaemia, Non-Hodgkin lymphoma and 5 more.
Histone methyltransferase that specifically trimethylates 'Lys-36' of histone H3 (H3K36me3) using dimethylated 'Lys-36' (H3K36me2) as substrate. It is capable of trimethylating unmethylated H3K36 (H3K36me0) in vitro.
No product in this corpus aims at SETD2 yet. Transcription factors have no pocket to plug, so drugs either degrade them or block the partner protein they need to dock on DNA.
Broadly expressed or essential: HPA lists SETD2 among essential proteins and finds the RNA at low tissue specificity; the 1 medicine aimed at it (Temsirolimus) act on the wild-type protein, so normal tissue is exposed and the therapeutic window comes from the tumour's faster division or its dependence on the protein. HPA SETD2: RNA low tissue specificity; no normal tissue stained high; highest cancer staining colorectal cancer (2 of 12 high). Distribution: 8 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Renal cell carcinoma, Leukaemia, Lymphoma, Pancreatic ductal adenocarcinoma, Mesothelioma, Skin cancer (all types), Lung cancer (all types) and more); Open Targets associates it with 3 specific cancer types at or above 0.5 (clear cell renal carcinoma, pleural mesothelioma, lung adenocarcinoma). (Rule 7 of scripts/fetch-target-specificity.ts.)
Sources: Human Protein Atlas SETD2 tissue; Open Targets ENSG00000181555 associations
First described 1998. Earliest sequence paper UniProt cites for the protein: Faber P.W. et al, Hum. Mol. Genet, 1998, "Huntingtin interacts with a family of WW domain proteins". Source.
Sources: HGNC HGNC:18420 (approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)); UniProt Q9BYW2 (protein name, function text, keywords and locations (REST API)); CIViC gene SETD2 (3 evidence items, 0 assertions, 2 variants; diseases: Clear Cell Renal Cell Carcinoma, Malignant Mesothelioma (GraphQL API, CC0)); Open Targets ENSG00000181555 (association with cancer (MONDO_0004992) 0.81; per-cancer scores at or above 0.5: non-small cell lung carcinoma 0.59, renal cell carcinoma 0.70, melanoma 0.64, neuroendocrine neoplasm 0.52, acute lymphoblastic leukaemia 0.64, B-cell chronic lymphocytic leukaemia 0.51 (GraphQL API, CC0)); IntOGen SETD2 (driver in 34 cohorts (Act 1, LoF 33); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0)
Histone methyltransferase that specifically trimethylates 'Lys-36' of histone H3 (H3K36me3) using dimethylated 'Lys-36' (H3K36me2) as substrate. It is capable of trimethylating unmethylated H3K36 (H3K36me0) in vitro. Represents the main enzyme generating H3K36me3, a specific tag for epigenetic transcriptional activation. Plays a role in chromatin structure modulation during elongation by coordinating recruitment of the FACT complex and by interacting with hyperphosphorylated POLR2A. Acts as a key regulator of DNA mismatch repair in G1 and early S phase by generating H3K36me3, a mark required to recruit MSH6 subunit of the MutS alpha complex: early recruitment of the MutS alpha complex to chromatin to be replicated allows a quick identification of mismatch DNA to initiate the mismatch repair reaction. Required for DNA double-strand break repair in response to DNA damage: acts by mediating formation of H3K36me3, promoting recruitment of RAD51 and DNA repair via homologous recombination (HR). Location: Nucleus; Chromosome (UniProt). Locus 3p21.31 (HGNC).
RNA: low tissue specificity, detected in all normal tissues.
No normal tissue stained high; medium in Adrenal gland, Appendix, Cerebral cortex, Cervix, Colon, Duodenum and more.
Medium only: breast cancer, carcinoid, cervical cancer, endometrial cancer.
HPA SETD2 tissue · HPA SETD2 pathology · HPA protein class: Essential proteins
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:"SETD2" OR ABSTRACT:"SETD2" OR TITLE:"SET domain containing 2, histone lysine methyltransferase" OR ABSTRACT:"SET domain containing 2, histone lysine methyltransferase" OR TITLE:"Histone-lysine N-methyltransferase SETD2" OR ABSTRACT:"Histone-lysine N-methyltransferase SETD2" OR TITLE:"HIF-1" OR ABSTRACT:"HIF-1" OR TITLE:"KIAA1732" OR ABSTRACT:"KIAA1732" OR TITLE:"FLJ23184" OR ABSTRACT:"FLJ23184") 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 SETD2, not a curated reading list.
Shares Mesothelioma, Leukaemia (all types), Skin cancer (all types), CIViC.
Shares Mesothelioma, Leukaemia (all types), Skin cancer (all types), CIViC.
Shares Leukaemia (all types), Skin cancer (all types), CIViC, IntOGen.
Shares Leukaemia (all types), Skin cancer (all types), IntOGen, Lung cancer (all types).
Shares Leukaemia (all types), Skin cancer (all types), IntOGen, Lung cancer (all types).
Shares Leukaemia (all types), Skin cancer (all types), IntOGen, Non-Hodgkin lymphoma (all types).
Shares Leukaemia (all types), Skin cancer (all types), CIViC, IntOGen.
Shares Leukaemia (all types), Skin cancer (all types), CIViC, IntOGen.