DNM2 wt Allele

Preferred Label : DNM2 wt Allele;

NCIt synonyms : DYN2; CMTDI1; CMTDIB; DYNII; CMT2M; DI-CMTB; Dynamin 2 wt Allele;

NCIt definition : Human DNM2 wild-type allele is located in the vicinity of 19p13.2 and is approximately 118 kb in length. This allele, which encodes dynamin-2 protein, is involved in both microtubule polymerization and GTPase activity. Mutation of the gene is associated with centronuclear myopathy type 1 and Charcot-Marie-Tooth disease types dominant intermediate B and 2M axonal.;

NCIt note : Somatic mutation of the DNM2 gene may be associated with early T-cell precursor acute lymphoblastic leukemia. (Nature. 2012; 481:157-163.);

GenBank Accession Number : NM_004945;

Détails

Origin ID

C102797;

UMLS CUI

C3540809;

Automatic exact mappings (from CISMeF team)
- Autosomal dominant intermediate Charcot-Marie-Tooth disease type B [ORDO Disease]
- Charcot-Marie-Tooth disease dominant intermediate B [DO Concept]
- Charcot-Marie-Tooth disease, dominant intermediate B [MeSH Supplementary Concept]
- Charcot-marie-tooth disease, dominant intermediate b [OMIM Phenotype]
- Dynamin 2 [OMIM gene]
- dynamin 2 [ORDO Gene]
OMIM relation
- Dynamin 2 [OMIM gene]
See also inter- (CISMeF)
- Autosomal dominant Charcot-Marie-Tooth disease type 2M [ORDO Disease]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 19p13.2 [NCIt concept]
gene_is_element_in_pathway
- Adherens Junction Stabilization Pathway [NCIt concept]
- Arf6 Trafficking Pathway [NCIt concept]
- Bacterial Invasion of Epithelial Cell Pathway [NCIt concept]
- Endocytosis Pathway [NCIt concept]
- Fc Gamma Receptor-Mediated Phagocytosis Pathway [NCIt concept]
- PDGFR-beta Signaling Pathway [NCIt concept]
- Syndecan-4-Mediated Signaling Pathway [NCIt concept]
- VEGFR1 and VEGFR2 Signaling [NCIt concept]
gene_plays_role_in_process
- Cell Cycle Progression [NCIt concept]
- Cytoskeletal Modeling [NCIt concept]
- Endocytotic Process [NCIt concept]
- GTP Binding [NCIt concept]
- Hydrolysis [NCIt concept]
- Intracellular Transport [NCIt concept]
- Ligand Binding [NCIt concept]
- Transport Process [NCIt concept]

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

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