SYNE2 wt Allele

Preferred Label : SYNE2 wt Allele;

NCIt synonyms : Synaptic Nuclei Expressed Gene 2; KIAA1011; Nesp2; EDMD5; SYNE-2; Nesprin-2; TROPH; DKFZP434H2235; NUANCE; NUA; Spectrin Repeat Containing, Nuclear Envelope 2 wt Allele;

NCIt definition : Human SYNE2 wild-type allele is located in the vicinity of 14q23.2 and is approximately 373 kb in length. This allele, which encodes nesprin-2 protein, is involved in the structure, organization, and localization of the nucleus. Variation of the gene is associated with Emery-Dreifuss muscular dystrophy type 5.;

GenBank Accession Number : AB023228;

Details

Origin ID

C120061;

UMLS CUI

C3890001;

Automatic exact mappings (from CISMeF team)
- Spectrin repeat-containing nuclear envelope protein 2 [OMIM gene]
- autosomal dominant Emery-Dreifuss muscular dystrophy 5 [DO Concept]
- spectrin repeat containing nuclear envelope protein 2 [ORDO Gene]
OMIM relation
- Spectrin repeat-containing nuclear envelope protein 2 [OMIM gene]
See also inter- (CISMeF)
- Emery-dreifuss muscular dystrophy 5, autosomal dominant [OMIM Phenotype]
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_plays_role_in_process
- Regulation of Cell Shape [NCIt concept]

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