SH2B3 wt Allele

Preferred Label : SH2B3 wt Allele;

NCIt synonyms : SH2B Adaptor Protein 3 wt Allele; IDDM20; LNK;

NCIt definition : Human SH2B3 wild-type allele is located in the vicinity of 12q24 and is approximately 46 kb in length. This allele, which encodes SH2B adapter protein 3, is involved in signal transduction. Mutation of the gene is associated with susceptibility to both celiac disease type 13 and insulin-dependent diabetes mellitus.;

NCIt note : Somatic mutation of the SH2B3 gene may be associated with early T-cell precursor acute lymphoblastic leukemia. (Nature. 2012; 481:157-163.);

GenBank Accession Number : AF055581;

Details

Origin ID

C102803;

UMLS CUI

C3539670;

Automatic exact mappings (from CISMeF team)
- SH2B adaptor protein 3 [ORDO Gene]
- Sh2b adaptor protein 3 [OMIM gene]
- Type 1 diabetes mellitus 20 [OMIM Phenotype]
- diabetes mellitus, Insulin-Dependent, 20 [MeSH Supplementary Concept]
- type 1 diabetes mellitus 20 [DO Concept]
OMIM relation
- Sh2b adaptor protein 3 [OMIM gene]
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_in_chromosomal_location
- 12q24 [NCIt concept]
gene_is_element_in_pathway
- Erythropoietin Signaling Pathway [NCIt concept]
- Mast/Stem Cell Growth Factor Receptor Signaling Pathway [NCIt concept]
- Neurotrophin Signaling Pathway [NCIt concept]
gene_plays_role_in_process
- Coagulation Process [NCIt concept]
- Hematopoietic Process [NCIt concept]
- 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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