{"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"}],"specificitySources":[],"hgnc":"HGNC:16259","ensembl":"ENSG00000184384","uniprot":"Q8IZL2","entrez":"84441","firstDescribed":2001,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Nagase et al, DNA Res, 2001, \"Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/11347906/","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/"}]}}