SPTBN1 wt Allele

Preferred Label : SPTBN1 wt Allele;

NCIt synonyms : betaSpII; Spectrin, Nonerythroid, Beta Subunit Gene; Spectrin Beta, Non-Erythrocytic 1 wt Allele; Spectrin, Beta, Non-Erythrocytic 1 Gene; Fodrin, Beta Gene; ELF; HEL102; SPTB2; Beta-Spectrin, General Form Gene; Spectrin, Beta-II Gene; Spectrin, Beta, Nonerythrocytic, 1 Gene;

NCIt definition : Human SPTBN1 wild-type allele is located in the vicinity of 2p21 and is approximately 215 kb in length. This allele, which encodes spectrin beta chain, non-erythrocytic 1 protein, is involved in the modulation of both cell shape and calcium-dependent secretory pathways.;

NCIt note : Expression of the SPTBN1 gene in HPV-negative head and neck squamous cell carcinoma may be a marker for poor prognosis. (Otolaryngol Head Neck Surg. 2016; pii: 0194599816642436.);

NCI Metathesaurus CUI : CL520398;

GenBank Accession Number : XM_005264517;

Details

Origin ID

C132082;

UMLS CUI

C4321336;

Automatic exact mappings (from CISMeF team)
- Spectrin, beta, nonerythrocytic, 1 [OMIM gene]
OMIM relation
- Spectrin, beta, nonerythrocytic, 1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 2p21 [NCIt concept]
gene_is_element_in_pathway
- Synaptic Junction Pathway [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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