Spectrin Beta Chain, Non-Erythrocytic 2

Preferred Label : Spectrin Beta Chain, Non-Erythrocytic 2;

NCIt synonyms : Beta-III Spectrin; Spectrin, Non-Erythroid Beta Chain 2; Spinocerebellar Ataxia 5; Spectrin Beta Chain, Brain 2; Spinocerebellar Ataxia 5 Protein; Glutamate Transporter EAAT4-Associated Protein 41;

NCIt definition : Spectrin beta chain, non-erythrocytic 2 (2390 aa, 271 kDa) is encoded by the human SPTBN2 gene. This protein plays a role in the regulation of actin filament function.;

Details

Origin ID

C106020;

UMLS CUI

C1531080;

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)
- Amino Acid, Peptide, or Protein [UMLS semantic type]
- Biologically Active Substance [UMLS semantic type]
UMLS correspondences (same concept)
- SPTBN2 protein, human [MeSH Supplementary Concept]
- SPTBN2 protein, human [MeSH concept]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_encodes_gene_product
- Cytoskeletal Gene [NCIt concept]
- SPTBN2 Gene [NCIt concept]
- Structural Protein Gene [NCIt concept]
gene_product_has_associated_anatomy
- Cytoskeleton [NCIt concept]
gene_product_has_biochemical_function
- Actin-Binding Protein [NCIt concept]
gene_product_plays_role_in_biological_process
- Cell Movement Process [NCIt concept]
- Cell-Cell Adhesion Process [NCIt concept]
- Cytoskeletal Process [NCIt concept]
- Regulation of Cell Shape [NCIt concept]

Keyword's position in hierarchy(ies) :

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