C2 wt Allele - CISMeF

Preferred Label : C2 wt Allele;

NCIt synonyms : Complement Component 2 wt Allele; CO2; ARMD14;

NCIt definition : Human C2 wild-type allele is located in the vicinity of 6p21.3 and is approximately 48 kb in length. This allele, which encodes complement C2 protein, plays a role in proteolysis and complement activation. Mutation of the gene is associated with C2 deficiency and increased susceptibility for age-related macular degeneration.;

NCI Metathesaurus CUI : CL508109;

GenBank Accession Number : NM_001145903;

Détails

Origin ID

C126957;

UMLS CUI

C4284286;

Automatic exact mappings (from CISMeF team)
- CO2 [MedDRA LLT]
- Carbon dioxide [LOINC component]
- Macular degeneration, age-related, 14 [OMIM Phenotype]
- carbon dioxide [MeSH Descriptor]
- mitochondrially encoded cytochrome c oxidase II [ORDO Gene]
OMIM relation
- Complement component 2 [OMIM gene]
See also inter- (CISMeF)
- age related macular degeneration 14 [DO Concept]
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
- 6p21.3 [NCIt concept]
gene_is_element_in_pathway
- Classical Complement Pathway [NCIt concept]
- Complement Pathway [NCIt concept]
- Complement and Coagulation Cascade [NCIt concept]
- Lectin Induced Complement Pathway [NCIt concept]
- Systemic Lupus Erythematosus Pathway [NCIt concept]
gene_plays_role_in_process
- Complement Activation [NCIt concept]
- Immunity [NCIt concept]
- Proteolytic Processing [NCIt concept]

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