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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.
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).
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.
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.
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.
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).
Tumour-specific alteration: 1 of 1 medicines aimed at it name a mutant, fusion, exon or hotspot in their mechanism (GSK2256098), an alteration absent from normal cells. HPA NF2: RNA low tissue specificity; high antibody staining in 30 normal tissues; highest cancer staining endometrial cancer (10 of 11 high). Distribution: 8 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Mesothelioma, Renal cell carcinoma, Breast cancer (all types), Thyroid cancer, Ovarian cancer, Cervical cancer, Hepatocellular carcinoma and more); Open Targets associates it with 8 specific cancer types at or above 0.5 (NF2-related schwannomatosis, schwannomatosis, SMARCB1-related schwannomatosis, familial meningioma, acoustic neuroma, pleural mesothelioma and more). (Rule 4 of scripts/fetch-target-specificity.ts.)
Sources: Human Protein Atlas NF2 tissue; Open Targets ENSG00000186575 associations
First described 1993. Earliest sequence paper UniProt cites for the protein: Trofatter J.A. et al, Cell, 1993, "A novel moesin-, ezrin-, radixin-like gene is a candidate for the neurofibromatosis 2 tumor suppressor". Source.
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)
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).
RNA: low tissue specificity, detected in all normal tissues.
Medium: Appendix, Bone marrow, Fallopian tube, Lung, Lymph node, Ovary, Parathyroid gland, Prostate.
Medium only: glioma, lymphoma.
Human Protein Atlas version 25.1, antibody staining at reliability approved, enhanced or supported; used under CC BY-SA 3.0. Staining counts are patients per level in the atlas cohort, not population prevalence.
Query 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.
Shares Mesothelioma, Renal cell carcinoma, Cervical cancer, Hepatocellular carcinoma.
Shares Hippo-YAP/TAZ, Cervical cancer, IntOGen, Ovarian cancer.
Shares Thyroid cancer, Hepatocellular carcinoma, CIViC, IntOGen.
Shares Mesothelioma, Renal cell carcinoma, Cervical cancer, CIViC.
Shares Thyroid cancer, Renal cell carcinoma, CIViC, IntOGen.
Shares Mesothelioma, CIViC, IntOGen, Head and neck squamous cell carcinoma.
Shares Mesothelioma, CIViC, IntOGen, Ovarian cancer.
Shares Mesothelioma, Hepatocellular carcinoma, IntOGen, Head and neck squamous cell carcinoma.