NF2 wt Allele - CISMeF

Preferred Label : NF2 wt Allele;

NCIt synonyms : ACN; BANF; SCH; Neurofibromin 2 (Bilateral Acoustic Neuroma) Gene; Neurofibromin 2 (Merlin) Gene; Neurofibromin 2 wt Allele;

NCIt definition : Human NF2 wild type allele is located in the vicinity of 22q12.2 and is approximately 95 kb in length. This allele, which encodes merlin protein, plays a role in the mediation of protein localization, cytoskeletal conformation and ion transport. Mutations in this allele are a factor in the occurrence of neurofibromatosis type II, schwannomatosis and somatic meningioma.;

GenBank Accession Number : NM_000268;

Details

Origin ID

C52883;

UMLS CUI

C1704891;

OMIM relation
- Neurofibromin 2 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_has_abnormality
- NF2 Gene Inactivation [NCIt concept]
gene_in_chromosomal_location
- 22q12.2 [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Neurofibromatosis Type 2 [NCIt concept]
- Schwannoma [NCIt concept]
gene_is_element_in_pathway
- Tight Junction Assembly Pathway [NCIt concept]
gene_plays_role_in_process
- Cell-Cell Adhesion Process [NCIt concept]
- Signal Transduction [NCIt concept]

Keyword's position in hierarchy(ies) :

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