SPTBN2 wt Allele

Preferred Label : SPTBN2 wt Allele;

NCIt synonyms : GTRAP41; KIAA0302; Spectrin, Beta, Non-Erythrocytic 2 wt Allele; SCA5;

NCIt definition : Human SPTBN2 wild-type allele is located in the vicinity of 11q13.2 and is approximately 44 kb in length. This allele, which encodes spectrin beta chain, non-erythrocytic 2 protein, is involved in the regulation of actin filament function. Mutations in this gene are associated with spinocerebellar ataxia 5.;

GenBank Accession Number : NM_006946;

Details

Origin ID

C106019;

UMLS CUI

C3811242;

Automatic exact mappings (from CISMeF team)
- Spectrin, beta, nonerythrocytic, 2 [OMIM gene]
- Spinocerebellar ataxia type 5 [ORDO Disease]
- spinocerebellar ataxias [MeSH Descriptor]
OMIM relation
- Spectrin, beta, nonerythrocytic, 2 [OMIM gene]
See also inter- (CISMeF)
- Spinocerebellar ataxia 5 [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
- Cell Movement Process [NCIt concept]
- Cytoskeletal Process [NCIt concept]
- Regulation of Cell Shape [NCIt concept]

Keyword's position in hierarchy(ies) :

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