STXBP2 wt Allele

Preferred Label : STXBP2 wt Allele;

NCIt synonyms : UNC18B; UNC18-2; unc-18B; Hunc18b; Syntaxin Binding Protein 2 wt Allele; MUNC18-2; FHL5; pp10122; UNC18, C. elegans, Homolog of, 2 Gene;

NCIt related terms : FHL5 / MUNC18-2 (STXBP2);

NCIt definition : Human STXBP2 wild-type allele is located within 19p13.3-p13.2 and is approximately 11 kb in length. This allele, which encodes syntaxin-binding protein 2, plays a role in intracellular vesicle trafficking and vesicle fusion with membranes. Mutations in this gene are associated with familial hemophagocytic lymphohistiocytosis type 5.;

NCIt note : The gene encodes alternatively spliced transcript variants that generate different protein isoforms.;

GenBank Accession Number : NM_006949;

Details

Origin ID

C114623;

UMLS CUI

C3890002;

Automatic exact mappings (from CISMeF team)
- Four-and-a-half lim domains 5 [OMIM gene]
- Syntaxin-binding protein 2 [OMIM gene]
- familial hemophagocytic lymphohistiocytosis 5 [DO Concept]
- hemophagocytic lymphohistiocytosis, familial, 5 [MeSH Supplementary Concept]
- syntaxin binding protein 2 [ORDO Gene]
OMIM relation
- Syntaxin-binding protein 2 [OMIM gene]
See also inter- (CISMeF)
- Hemophagocytic lymphohistiocytosis, familial, 5, with or without microvillus inclusion disease [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_involved_in_pathogenesis_of_disease
- Familial Hemophagocytic Lymphohistiocytosis Type 5 [NCIt concept]
gene_plays_role_in_process
- Exocytosis [NCIt concept]
- Ligand Binding [NCIt concept]
- Transport Process [NCIt concept]

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