PTPRC wt Allele

Preferred Label : PTPRC wt Allele;

NCIt synonyms : CD45; B220; T200; LCA; GP180; LY5; Protein Tyrosine Phosphatase, Receptor Type, C Gene; L-CA; CD45R; Protein Tyrosine Phosphatase, Receptor Type C wt Allele;

NCIt definition : Human PTPRC wild-type allele is located in the vicinity of 1q31-q32 and is approximately 118 kb in length. This allele, which encodes receptor-type tyrosine-protein phosphatase C protein, plays a role in T-cell activation through the antigen receptor. Defects in the PTPRC gene are a cause of autosomal recessive severe combined immunodeficiency (SCID).;

GenBank Accession Number : NM_080923;

Details

Origin ID

C49531;

UMLS CUI

C1706240;

Automatic exact mappings (from CISMeF team)
- B 220 [MeSH Supplementary Concept]
- CD45 [LOINC component]
- CD45 (Lymphs) cells [LOINC component]
- CD45 Ag [LOINC component]
- Carboxypeptidase D [OMIM gene]
- Clathrin, light polypeptide a [OMIM gene]
- Leber congenital amaurosis [DO Concept]
- Leber congenital amaurosis 1 [OMIM Phenotype]
- Leukocyte Common Antigens [MeSH Descriptor]
- Leukocyte common Ag [LOINC component]
- Protein-tyrosine phosphatase, receptor-type, C [OMIM gene]
- guanylate cyclase 2D, retinal [ORDO Gene]
- protein tyrosine phosphatase receptor type C [ORDO Gene]
False automatic mappings
- Left main coronary artery [ICD-11 Extension code]
OMIM relation
- Protein-tyrosine phosphatase, receptor-type, C [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_associated_with_disease
- Multiple Sclerosis [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 1q31-q32 [NCIt concept]
gene_is_element_in_pathway
- B Lymphocyte Cell Surface Molecule Pathway [NCIt concept]
- CSK Protein Kinase Activation Pathway [NCIt concept]
- Cell Adhesion Molecule Signaling Pathway [NCIt concept]
- Cytotoxic T Cell Surface Pathway [NCIt concept]
- Fc Gamma Receptor-Mediated Phagocytosis Pathway [NCIt concept]
- Primary Immunodeficiency Pathway [NCIt concept]
- T Cell Receptor Signaling Pathway KEGG [NCIt concept]
- T Helper Cell Surface Molecule Pathway [NCIt concept]
- TCR Activation Pathway [NCIt concept]
gene_plays_role_in_process
- Dephosphorylation [NCIt concept]
- Hydrolysis [NCIt concept]
- Protein Dephosphorylation [NCIt concept]
- Signal Transduction [NCIt concept]
- T-Cell Activation [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients