MAML2
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.
Overview
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.
Open 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.
- Target · the protein and the cell it sits on
- Drug · antibody, small molecule, cell or radioligand
- Effect · signal, damage or kill
In plain words · 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.
- 1 · What it is
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.
- 2 · What goes wrong in cancer
Acts as a transcriptional coactivator for NOTCH proteins. Has been shown to amplify NOTCH-induced transcription of HES1.
- 3 · How drugs use it
No product in this corpus aims at MAML2 yet. Because the protein is lost rather than overactive, drugs either restore its function or exploit the weakness its loss leaves (synthetic lethality).
External identifiers
Sources: HGNC HGNC:16259 (approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)); UniProt Q8IZL2 (protein name, function text, keywords and locations (REST API)); Open Targets ENSG00000184384 (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)); IntOGen MAML2 (driver in 3 cohorts (Act 0, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0)
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).
- 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)
Notes
top- 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.
Latest papers
topQuery for this target: (TITLE:"MAML2" OR ABSTRACT:"MAML2" OR TITLE:"mastermind like transcriptional coactivator 2" OR ABSTRACT:"mastermind like transcriptional coactivator 2" OR TITLE:"Mastermind-like protein 2" OR ABSTRACT:"Mastermind-like protein 2" OR TITLE:"KIAA1819" OR ABSTRACT:"KIAA1819" OR TITLE:"MAM3" OR ABSTRACT:"MAM3") 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 MAML2, not a curated reading list.
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