{"entity":{"id":"maml2","kind":"target","name":"MAML2","aka":["mastermind like transcriptional coactivator 2","Mastermind-like protein 2","KIAA1819","MAM3"],"tldr":"MAML2 (Mastermind-like protein 2) 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 Lung cancer, Vulvar cancer, Breast cancer and 5 more.","summary":"Acts as a transcriptional coactivator for NOTCH proteins. Has been shown to amplify NOTCH-induced transcription of HES1. Potentiates activation by NOTCH3 and NOTCH4 more efficiently than MAML1 or MAML3.\n\nOpen Targets scores its association with cancer at 0.80 (direct and indirect evidence; datatypes literature 0.91, affected pathway 0.94, genetic association 0.31, somatic mutation 0.89). IntOGen calls it a driver in 3 cohorts (0 activating, 1 loss-of-function), covering Acute Myeloid Leukaemia, Lung Squamous Cell Carcinoma, Vulva/Vagina.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:16259","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:16259"},{"label":"UniProt Q8IZL2","url":"https://www.uniprot.org/uniprotkb/Q8IZL2/entry"},{"label":"NCBI Gene 84441","url":"https://www.ncbi.nlm.nih.gov/gene/84441"},{"label":"Ensembl ENSG00000184384","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000184384"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["lung-cancer","vulvar","breast-cancer","skin-cancer","mucoepidermoid-carcinoma","nsclc","aml","oral-cavity-cancer"],"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":"MAML2","role":["tumour-suppressor","fusion-partner"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:16259","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:16259","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q8IZL2","url":"https://www.uniprot.org/uniprotkb/Q8IZL2/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000184384","url":"https://platform.opentargets.org/target/ENSG00000184384/associations","note":"association with cancer (MONDO_0004992) 0.80; per-cancer scores at or above 0.5: non-small cell lung carcinoma 0.51, skin cancer 0.52, breast cancer 0.55, lung cancer 0.60, oral cavity cancer 0.56, mucoepidermoid carcinoma 0.58 (GraphQL API, CC0)"},{"label":"IntOGen MAML2","url":"https://www.intogen.org/search?gene=MAML2","note":"driver in 3 cohorts (Act 0, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"hgnc":"HGNC:16259","ensembl":"ENSG00000184384","uniprot":"Q8IZL2","entrez":"84441","biology":"Acts as a transcriptional coactivator for NOTCH proteins. Has been shown to amplify NOTCH-induced transcription of HES1. Potentiates activation by NOTCH3 and NOTCH4 more efficiently than MAML1 or MAML3. Location: Nucleus speckle (UniProt). Locus 11q21 (HGNC).","whereFound":["Lung cancer: Open Targets association 0.60 with lung cancer (MONDO_0008903)","Vulvar cancer: IntOGen driver in 1 cohort (VULVA)","Breast cancer: Open Targets association 0.55 with breast cancer (MONDO_0007254)","Skin cancer: Open Targets association 0.52 with skin cancer (MONDO_0002898)","Mucoepidermoid carcinoma: Open Targets association 0.58 with mucoepidermoid carcinoma (MONDO_0003036)","Non-small-cell lung cancer: Open Targets association 0.51 with non-small cell lung carcinoma (MONDO_0005233); IntOGen driver in 1 cohort (LUSC)"],"targetClass":"tumor-suppressor","prevalence":[]},"route":"/targets/maml2/","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":"aml","kind":"cancer","name":"Acute myeloid leukaemia","route":"/cancers/aml/"},{"id":"breast-cancer","kind":"cancer","name":"Breast cancer (all types)","route":"/cancers/breast-cancer/"},{"id":"lung-cancer","kind":"cancer","name":"Lung cancer (all types)","route":"/cancers/lung-cancer/"},{"id":"mucoepidermoid-carcinoma","kind":"cancer","name":"Mucoepidermoid carcinoma","route":"/cancers/mucoepidermoid-carcinoma/"},{"id":"nsclc","kind":"cancer","name":"Non-small-cell lung cancer","route":"/cancers/nsclc/"},{"id":"oral-cavity-cancer","kind":"cancer","name":"Oral cavity cancer (mouth and tongue)","route":"/cancers/oral-cavity-cancer/"},{"id":"skin-cancer","kind":"cancer","name":"Skin cancer (all types)","route":"/cancers/skin-cancer/"},{"id":"vulvar","kind":"cancer","name":"Vulvar cancer","route":"/cancers/vulvar/"}]}}