NF2
NF2 (Merlin) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a drug target, an oncogene driver, a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Mesothelioma, Renal cell carcinoma, Breast cancer and 5 more.
Overview
Probable regulator of the Hippo/SWH (Sav/Wts/Hpo) signalling pathway, a signalling pathway that plays a pivotal role in tumour suppression by restricting proliferation and promoting apoptosis. Along with WWC1 can synergistically induce the phosphorylation of LATS1 and LATS2 and can probably function in the regulation of the Hippo/SWH (Sav/Wts/Hpo) signalling pathway. May act as a membrane stabilising protein.
CIViC holds 6 clinical evidence items and 0 assertions across 5 variants, naming Selumetinib, Temsirolimus, Carboplatin and Cisplatin and others. Open Targets scores its association with cancer at 0.77 (direct and indirect evidence; datatypes genetic literature 0.30, affected pathway 0.81, literature 0.98, genetic association 0.24, somatic mutation 0.88). IntOGen calls it a driver in 13 cohorts (1 activating, 12 loss-of-function), covering Renal Clear Cell Carcinoma, Cervical Squamous Cell Carcinoma, Hepatocellular Carcinoma, Head and Neck Squamous Cell Carcinoma, Melanoma, Ovarian Epithelial Tumour and others. In OnCo, 1 product record names it (GSK2256098).
- Target · the protein and the cell it sits on
- Drug · antibody, small molecule, cell or radioligand
- Effect · signal, damage or kill
In plain words · NF2 (Merlin) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a drug target, an oncogene driver, a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Mesothelioma, Renal cell carcinoma, Breast cancer and 5 more.
- 1 · What it is
NF2 (Merlin) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a drug target, an oncogene driver, a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Mesothelioma, Renal cell carcinoma, Breast cancer and 5 more.
- 2 · What goes wrong in cancer
Probable regulator of the Hippo/SWH (Sav/Wts/Hpo) signalling pathway, a signalling pathway that plays a pivotal role in tumour suppression by restricting proliferation and promoting apoptosis.
- 3 · How drugs use it
No product in this corpus aims at NF2 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:7773 (approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)); UniProt P35240 (protein name, function text, keywords and locations (REST API)); CIViC gene NF2 (6 evidence items, 0 assertions, 5 variants; diseases: Adult Spinal Cord Ependymoma, Breast Cancer, Peritoneal Mesothelioma, Malignant Mesothelioma, Thyroid Gland Carcinoma (GraphQL API, CC0)); Open Targets ENSG00000186575 (association with cancer (MONDO_0004992) 0.77; per-cancer scores at or above 0.5: renal cell carcinoma 0.59, ovarian cancer 0.55, sarcoma 0.52, malignant mesothelioma 0.59, skin cancer 0.52, breast cancer 0.50 (GraphQL API, CC0)); IntOGen NF2 (driver in 13 cohorts (Act 1, LoF 12); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0)
Biology
Probable regulator of the Hippo/SWH (Sav/Wts/Hpo) signalling pathway, a signalling pathway that plays a pivotal role in tumour suppression by restricting proliferation and promoting apoptosis. Along with WWC1 can synergistically induce the phosphorylation of LATS1 and LATS2 and can probably function in the regulation of the Hippo/SWH (Sav/Wts/Hpo) signalling pathway. May act as a membrane stabilising protein. May inhibit PI3 kinase by binding to AGAP2 and impairing its stimulating activity. Suppresses cell proliferation and tumorigenesis by inhibiting the CUL4A-RBX1-DDB1-VprBP/DCAF1 E3 ubiquitin-protein ligase complex. Location: Cell projection, filopodium membrane; Cell projection, ruffle membrane; Nucleus; Cytoplasm, perinuclear region (UniProt). Locus 22q12.2 (HGNC).
- Mesothelioma: Open Targets association 0.59 with malignant mesothelioma (MONDO_0006292); IntOGen driver in 4 cohorts (PLMESO)
- Renal cell carcinoma: Open Targets association 0.59 with renal cell carcinoma (MONDO_0005086); IntOGen driver in 3 cohorts (CCRCC, PRCC, RCC)
- Breast cancer: Open Targets association 0.50 with breast cancer (MONDO_0007254); CIViC evidence names this disease
- Thyroid cancer: CIViC evidence names this disease
- Ovarian cancer: Open Targets association 0.55 with ovarian cancer (MONDO_0008170); IntOGen driver in 1 cohort (OVT)
- Cervical cancer: IntOGen driver in 1 cohort (CESC)
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: CIViC lists 5 therapies; IntOGen calls it an activating (Act) driver in 1 cohort; IntOGen calls it a loss-of-function (LoF) driver in 12 cohorts; CIViC holds 6 clinical evidence items on its variants. Evidence tier "clinical-evidence" is the strongest of those signals.
- Prevalence not recorded: none of the sources gives a positivity rate.
- Diseases the sources name that have no OnCo cancer page yet, so they are not linked: Adult Spinal Cord Ependymoma; Malignant Mesothelioma.
Latest papers
topQuery for this target: (TITLE:"NF2" OR ABSTRACT:"NF2" OR TITLE:"NF2, moesin-ezrin-radixin like MERLIN tumor suppressor" OR ABSTRACT:"NF2, moesin-ezrin-radixin like MERLIN tumor suppressor" OR TITLE:"Merlin" OR ABSTRACT:"Merlin" OR TITLE:"merlin" OR ABSTRACT:"merlin" OR TITLE:"merlin-1" OR ABSTRACT:"merlin-1") 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 NF2, not a curated reading list.
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