CD46 wt Allele

Preferred Label : CD46 wt Allele;

NCIt synonyms : AHUS2; CD46 Molecule, Complement Regulatory Protein Gene; MCP; Membrane Cofactor Protein (CD46, Trophoblast-Lymphocyte Cross-Reactive Antigen) Gene; TRA2.10; TLX; CD46 Molecule wt Allele; CD46 Antigen, Complement Regulatory Protein Gene; MIC10; MGC26544;

NCIt definition : Human CD46 wild-type allele is located in the vicinity of 1q32 and is approximately 43 kb in length. This allele, which encodes membrane cofactor protein, plays a role in the stimulation of T-regulatory cell differentiation, oocyte fertilization, the classical complement pathway and pathogen binding. Mutation of the gene is associated with increased susceptibility to hemolytic uremic syndrome.;

NCI Metathesaurus CUI : CL508060;

GenBank Accession Number : BC030594;

Details

Origin ID

C126978;

UMLS CUI

C4283801;

Automatic exact mappings (from CISMeF team)
- CD46 molecule [ORDO Gene]
- Capping protein, gelsolin-like [OMIM gene]
- Cd46 antigen [OMIM gene]
- Hemolytic uremic syndrome, atypical, susceptibility to, 2 [OMIM Phenotype]
- Mitochondrial contact site and cristae organizing system, 10-kd subunit [OMIM gene]
- Multifocal choroiditis and panuveitis syndrome (disorder) [SNOMED CT concept]
- Nuclear receptor subfamily 2, group e, member 1 [OMIM gene]
- occupational diseases [MeSH Descriptor]
- threonine-type endopeptidase activity [GO term]
OMIM relation
- Cd46 antigen [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
- 1q32 [NCIt concept]
gene_is_element_in_pathway
- Complement and Coagulation Cascade [NCIt concept]
gene_plays_role_in_process
- Immunoregulation [NCIt concept]
- Ligand Binding [NCIt concept]
- Negative Regulation of Complement Activation [NCIt concept]
- T-Cell Differentiation [NCIt concept]

Keyword's position in hierarchy(ies) :

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