Preferred Label : HLA Class I Histocompatibility Antigen, A-2 Alpha Chain;
NCIt synonyms : MHC Class I Antigen A*2; HLA-A Histocompatibility Type Antigen 2; HLA-A Class I Antigen 2; HLA-A2 Antigen; Major Histocompatibility Complex, Class I, A2 Antigen; HLA-A2; HLA-A; MHC Class I Antigen A*02; HLA-A Histocompatibility Type Antigen*02; HLA-A*02;
NCIt definition : HLA class I histocompatibility antigen, A-2 alpha chain (365 aa, 41 kDa) is encoded
by the human HLA-A gene. This protein is involved in antigen presentation.;
NCIt note : HLA-A protein organization includes a signal peptide, extracellular alpha1, 2, and
3 domains (90-aa each), a transmembrane region, and a cytoplasmic tail. Polymorphic
alpha1 and 2 domains determine peptide binding specificity. Ig-like alpha3 mediates
CD8 binding on cytotoxic T-lymphocytes. In the immune response, HLA antigens mediate
antigen presentation to TCR. HLA-A2 subtypes are associated with decreased risk of
HIV-1 infection and increased frequency of early-onset Alzheimer disease. (from LocusLink,
Swiss-Prot, OMIM);
Origin ID : C16691;
UMLS CUI : C4721543;
Currated CISMeF NLP mapping
- OMIM relation
- Semantic type(s)
- UMLS correspondences (same concept)
- concept_is_in_subset
- gene_encodes_gene_product
- gene_product_expressed_in_tissue
- gene_product_has_associated_anatomy
- gene_product_has_chemical_classification
- gene_product_has_organism_source
- gene_product_has_structural_domain_or_motif
- gene_product_is_element_in_pathway
- gene_product_plays_role_in_biological_process
- is_target
