{"entity":{"id":"nsd3","kind":"target","name":"NSD3","aka":["nuclear receptor binding SET domain protein 3","Histone-lysine N-methyltransferase NSD3","FLJ20353","WHISTLE","KMT3F","WHSC1L1"],"tldr":"NSD3 (Histone-lysine N-methyltransferase NSD3) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a tumour suppressor and a fusion partner, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Breast cancer, Skin cancer, Colorectal cancer and 1 more.","summary":"Histone methyltransferase. Preferentially dimethylates 'Lys-4' and 'Lys-27' of histone H3 forming H3K4me2 and H3K27me2. H3 'Lys-4' methylation represents a specific tag for epigenetic transcriptional activation, while 'Lys-27' is a mark for transcriptional repression.\n\nOpen Targets scores its association with cancer at 0.65 (direct and indirect evidence; datatypes literature 0.97, genetic association 0.19, somatic mutation 0.83). IntOGen calls it a driver in 1 cohort (0 activating, 1 loss-of-function), covering Lung Squamous Cell Carcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:12767","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12767"},{"label":"UniProt Q9BZ95","url":"https://www.uniprot.org/uniprotkb/Q9BZ95/entry"},{"label":"NCBI Gene 54904","url":"https://www.ncbi.nlm.nih.gov/gene/54904"},{"label":"Ensembl ENSG00000147548","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000147548"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["breast-cancer","skin-cancer","colorectal","nsclc"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["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 a loss-of-function (LoF) driver in 1 cohort; UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"NSD3","role":["tumour-suppressor","fusion-partner"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:12767","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12767","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9BZ95","url":"https://www.uniprot.org/uniprotkb/Q9BZ95/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000147548","url":"https://platform.opentargets.org/target/ENSG00000147548/associations","note":"association with cancer (MONDO_0004992) 0.65; per-cancer scores at or above 0.5: colorectal cancer 0.51, skin cancer 0.52, breast cancer 0.54 (GraphQL API, CC0)"},{"label":"IntOGen NSD3","url":"https://www.intogen.org/search?gene=NSD3","note":"driver in 1 cohort (Act 0, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"hgnc":"HGNC:12767","ensembl":"ENSG00000147548","uniprot":"Q9BZ95","entrez":"54904","biology":"Histone methyltransferase. Preferentially dimethylates 'Lys-4' and 'Lys-27' of histone H3 forming H3K4me2 and H3K27me2. H3 'Lys-4' methylation represents a specific tag for epigenetic transcriptional activation, while 'Lys-27' is a mark for transcriptional repression. Location: Nucleus; Chromosome (UniProt). Locus 8p11.23 (HGNC).","whereFound":["Breast cancer: Open Targets association 0.54 with breast cancer (MONDO_0007254)","Skin cancer: Open Targets association 0.52 with skin cancer (MONDO_0002898)","Colorectal cancer: Open Targets association 0.51 with colorectal cancer (MONDO_0005575)","Non-small-cell lung cancer: IntOGen driver in 1 cohort (LUSC)"],"targetClass":"tumor-suppressor","prevalence":[]},"route":"/targets/nsd3/","neighbours":{"collection":[{"id":"intogen","kind":"collection","name":"IntOGen","route":"/collections/intogen/"},{"id":"open-targets","kind":"collection","name":"Open Targets Platform","route":"/collections/open-targets/"}],"cancer":[{"id":"breast-cancer","kind":"cancer","name":"Breast cancer (all types)","route":"/cancers/breast-cancer/"},{"id":"colorectal","kind":"cancer","name":"Colorectal cancer","route":"/cancers/colorectal/"},{"id":"nsclc","kind":"cancer","name":"Non-small-cell lung cancer","route":"/cancers/nsclc/"},{"id":"skin-cancer","kind":"cancer","name":"Skin cancer (all types)","route":"/cancers/skin-cancer/"}]}}