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NSD2 (Histone-lysine N-methyltransferase NSD2) 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 Multiple myeloma, Bladder & urothelial cancer, Lung cancer and 5 more.
Histone methyltransferase which specifically dimethylates nucleosomal histone H3 at 'Lys-36' (H3K36me2). Also monomethylates nucleosomal histone H3 at 'Lys-36' (H3K36me) in vitro. Does not trimethylate nucleosomal histone H3 at 'Lys-36' (H3K36me3).
CIViC holds 1 clinical evidence item and 0 assertions across 1 variant. Open Targets scores its association with cancer at 0.64 (direct and indirect evidence; datatypes literature 0.98, genetic association 0.00, somatic mutation 0.83). IntOGen calls it a driver in 4 cohorts (3 activating, 1 loss-of-function), covering Acute Lymphoblastic Leukaemia, Burkitt Lymphoma, Plasma Cell Myeloma, Upper Tract Urothelial Carcinoma.
In plain words · NSD2 (Histone-lysine N-methyltransferase NSD2) 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 Multiple myeloma, Bladder & urothelial cancer, Lung cancer and 5 more.
NSD2 (Histone-lysine N-methyltransferase NSD2) 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 Multiple myeloma, Bladder & urothelial cancer, Lung cancer and 5 more.
Histone methyltransferase which specifically dimethylates nucleosomal histone H3 at 'Lys-36' (H3K36me2). Also monomethylates nucleosomal histone H3 at 'Lys-36' (H3K36me) in vitro.
No product in this corpus aims at NSD2 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 NSD2: RNA low tissue specificity; high antibody staining in 13 normal tissues; highest cancer staining colorectal cancer (10 of 12 high). Distribution: 8 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Multiple myeloma, Bladder & urothelial cancer, Lung cancer (all types), Breast cancer (all types), Lymphoma, Head and neck squamous cell carcinoma, Leukaemia and more); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 6 of scripts/fetch-target-specificity.ts.)
Sources: UniProt O96028; CIViC gene NSD2; IntOGen NSD2; Human Protein Atlas NSD2 tissue; Open Targets ENSG00000109685 associations
First described 1998. Earliest sequence paper UniProt cites for the protein: Chesi et al, Blood, 1998, "The t(4;14) translocation in myeloma dysregulates both FGFR3 and a novel gene, MMSET, resulting in IgH/MMSET hybrid transcripts". Source.
Sources: HGNC HGNC:12766 (approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)); UniProt O96028 (protein name, function text, keywords and locations (REST API)); CIViC gene NSD2 (1 evidence items, 0 assertions, 1 variants; diseases: Mantle Cell Lymphoma (GraphQL API, CC0)); Open Targets ENSG00000109685 (association with cancer (MONDO_0004992) 0.64; per-cancer scores at or above 0.5: colorectal cancer 0.51, head and neck squamous cell carcinoma 0.52, non-Hodgkin lymphoma 0.53, breast cancer 0.54, lung cancer 0.54, leukaemia 0.51 (GraphQL API, CC0)); IntOGen NSD2 (driver in 4 cohorts (Act 3, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0)
Histone methyltransferase which specifically dimethylates nucleosomal histone H3 at 'Lys-36' (H3K36me2). Also monomethylates nucleosomal histone H3 at 'Lys-36' (H3K36me) in vitro. Does not trimethylate nucleosomal histone H3 at 'Lys-36' (H3K36me3). However, specifically trimethylates histone H3 at 'Lys-36' (H3K36me3) at euchromatic regions in embryonic stem (ES) cells. By methylating histone H3 at 'Lys-36', involved in the regulation of gene transcription during various biological processes. In ES cells, associates with developmental transcription factors such as SALL1 and represses inappropriate gene transcription mediated by histone deacetylation. Location: Nucleus; Chromosome; Cytoplasm; Nucleus, nucleolus (UniProt). Locus 4p16.3 (HGNC).
RNA: low tissue specificity, detected in all normal tissues.
Medium: Adrenal gland, Bone marrow, Breast, Caudate, Cerebellum, Colon, Endometrium, Epididymis.
Medium only: carcinoid, endometrial cancer, liver cancer, prostate 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:"NSD2" OR ABSTRACT:"NSD2" OR TITLE:"nuclear receptor binding SET domain protein 2" OR ABSTRACT:"nuclear receptor binding SET domain protein 2" OR TITLE:"Histone-lysine N-methyltransferase NSD2" OR ABSTRACT:"Histone-lysine N-methyltransferase NSD2" OR TITLE:"MMSET" OR ABSTRACT:"MMSET" OR TITLE:"KMT3G" OR ABSTRACT:"KMT3G" OR TITLE:"WHSC1" OR ABSTRACT:"WHSC1") 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 NSD2, not a curated reading list.
Shares Leukaemia (all types), CIViC, IntOGen, Head and neck squamous cell carcinoma.
Shares Leukaemia (all types), IntOGen, Lung cancer (all types), Breast cancer (all types).
Shares Leukaemia (all types), CIViC, IntOGen, Head and neck squamous cell carcinoma.
Shares Leukaemia (all types), Bladder & urothelial cancer, IntOGen, Head and neck squamous cell carcinoma.
Shares Leukaemia (all types), Bladder & urothelial cancer, CIViC, IntOGen.
Shares Leukaemia (all types), CIViC, IntOGen, Lung cancer (all types).
Shares Leukaemia (all types), IntOGen, Lung cancer (all types), Breast cancer (all types).
Shares Leukaemia (all types), IntOGen, Lung cancer (all types), Breast cancer (all types).