SH3BP2 wt Allele

Preferred Label : SH3BP2 wt Allele;

NCIt synonyms : 3BP-2; Cherubism Gene; SH3-Domain Binding Protein 2 wt Allele; RES4-23; CRBM; CRPM; 3BP2; FLJ42079; FLJ54978;

NCIt definition : Human SH3BP2 wild-type allele is located 4p16.3 and is approximately 48 kb in length. This allele, which encodes SH3 domain-binding protein 2, is involved in the modulation of signaling. Mutation of the gene is associated with cherubism.;

GenBank Accession Number : BC022996;

Details

Origin ID

C101438;

UMLS CUI

C3539607;

Automatic exact mappings (from CISMeF team)
- Cherubism [OMIM Phenotype]
- Cherubism [ORDO Disease]
- SH3 domain binding protein 2 [ORDO Gene]
- catch-relaxing peptide (Mytilus) [MeSH Supplementary Concept]
- cherubism [MeSH Descriptor]
OMIM relation
- Sh3 domain-binding protein 2 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 4p16.3 [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Cherubism [NCIt concept]
gene_is_element_in_pathway
- Natural Killer Cell-Mediated Cytotoxicity Pathway [NCIt concept]
- T-Cell Receptor Signaling Pathway in Naive CD4+ T Cells [NCIt concept]
gene_plays_role_in_process
- Protein-Protein Interaction [NCIt concept]
- Receptor Signaling [NCIt concept]
- Signal Transduction [NCIt concept]
- Subcellular Protein Targeting [NCIt concept]

Keyword's position in hierarchy(ies) :

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