Merlin - CISMeF

Preferred Label : Merlin;

NCIt synonyms : Schwannomerlin; Neurofibromin 2; Schwannomin; NF2;

NCIt definition : Merlin (595 aa, 70 kDa) is encoded by the human NF2 gene. This protein plays a role in the progression of apoptotic signaling pathways.;

NCIt note : Merlin protein (schwannomin, NF2 gene product) exhibits similarity to erythrocyte protein 4.1 and members of the ERM family (moesin, ezrin, and radixin), proteins thought to link cytoskeletal components with cell membrane proteins.;

NCI Metathesaurus CUI : CL1375161;

Détails

Origin ID

C17797;

UMLS CUI

C5197349;

Currated CISMeF NLP mapping
- Merlin (substance) [SNOMED CT concept]
- neurofibromin 2 [MeSH Descriptor]
- neurofibromin 2 [MeSH concept]
OMIM relation
- Nf2, moesin-ezrin-radixin-like (merlin) tumor suppressor [OMIM gene]
Semantic type(s)
- Amino Acid, Peptide, or Protein [UMLS semantic type]
- Biologically Active Substance [UMLS semantic type]
UMLS correspondences (same concept)
- Merlin (substance) [SNOMED CT concept]
- NF2 protein, human [MeSH Supplementary Concept]
- neurofibromin 2 [MeSH concept]
- neurofibromin 2 [MeSH Descriptor]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_encodes_gene_product
- NF2 Gene [NCIt concept]
- Signaling Pathway Gene [NCIt concept]
gene_product_expressed_in_tissue
- Kidney [NCIt concept]
- Lung [NCIt concept]
- Ovary [NCIt concept]
gene_product_has_abnormality
- Loss of Merlin Expression [NCIt concept]
gene_product_has_associated_anatomy
- Plasma Membrane [NCIt concept]
gene_product_is_element_in_pathway
- Hippo Signaling Pathway [NCIt concept]
- Tight Junction Assembly Pathway [NCIt concept]
gene_product_malfunction_associated_with_disease
- Neurofibromatosis Type 2 [NCIt concept]
gene_product_plays_role_in_biological_process
- Cell-Cell Adhesion Process [NCIt concept]
- Signal Transduction [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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