Preferred Label : SIRPA V2 Allele;
NCIt synonyms : Signal Regulatory Protein Alpha V2 Allele; SIRPA Variant 2 Allele; SIRPalpha Variant 2 Allele; Signal Regulatory Protein-Alpha V2 Allele; SIRPalpha V2 Allele;
NCIt definition : Human SIRPA V2 allele is located within 20p13 and is approximately 45 kb in length.
This allele, which encodes an isoform of tyrosine-protein phosphatase non-receptor
type substrate 1 protein with 12 amino acid substitutions and 1 amino acid deletion
in the immunoglobulin-like V-type domain, is involved in the negative regulation of
receptor tyrosine kinase-coupled signaling processes.;
NCIt note : The protein encoded by SIRPA V2 (CAA71403.1) has the following amino acid variations:
D131del, L44S, T50S, T52I, R54H, A57V, G75A, D95E, L96S, N100E, R107S, G109S and V132T.;
NCI Metathesaurus CUI : CL1798583;
GenBank Accession Number : Y10375;
Origin ID : C189879;
UMLS CUI : C5708805;
OMIM relation
- Semantic type(s)
- concept_is_in_subset
- gene_found_in_organism
- gene_in_chromosomal_location
- gene_is_element_in_pathway
- gene_plays_role_in_process
