CD40 wt Allele

Preferred Label : CD40 wt Allele;

NCIt synonyms : TNFRSF5; MGC9013; p50; CD40 Molecule, TNF Receptor Superfamily Member 5 wt Allele; CDW40; Tumor Necrosis Factor Receptor Superfamily Member 5 Gene; Bp50; TNFRSF5 Gene; TNFRSF5 wt Allele; CD40 Antigen (TNF Receptor Superfamily Member 5) Gene; Tumor Necrosis Factor Receptor Superfamily, Member 5 Gene;

NCIt definition : Human CD40 wild-type allele is located within 20q12-q13.2 and is approximately 186 kb in length. This allele, which encodes tumor necrosis factor receptor superfamily member 5 protein, is involved in the modulation of T cell-dependent immunoglobulin class switching, memory B cell development, and germinal center formation. Deletions in the gene are associated with hyper-IgM immunodeficiency type 3. The gene may play a role in the pathogenesis of Alzheimer's disease.;

NCIt note : The CD40 gene is expressed as two isoforms that are produced by alternative splicing. One isoform has a transmembrane domain and the other is a secreted protein. (SwissProt);

GenBank Accession Number : NM_001250;

Details

Origin ID

C51382;

UMLS CUI

C1705525;

OMIM relation
- Cd40 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
- 20q12-q13.2 [NCIt concept]
gene_is_element_in_pathway
- Allograft Rejection Pathway [NCIt concept]
- Antigen Dependent B Cell Activation Pathway [NCIt concept]
- Apoptosis Pathway [NCIt concept]
- Asthma Pathway [NCIt concept]
- Autoimmune Thyroid Disease Pathway [NCIt concept]
- Bystander B Cell Activation Pathway [NCIt concept]
- CD40L Signaling Pathway [NCIt concept]
- Cell Adhesion Molecule Signaling Pathway [NCIt concept]
- Cytokine-Cytokine Receptor Signaling Pathway [NCIt concept]
- Dendritic Cell Pathway [NCIt concept]
- Intestinal IgA Production Pathway [NCIt concept]
- Malaria Pathway [NCIt concept]
- Primary Immunodeficiency Pathway [NCIt concept]
- Systemic Lupus Erythematosus Pathway [NCIt concept]
- Th1/Th2 Differentiation Pathway [NCIt concept]
- Toll-Like Receptor Signaling Pathway [NCIt concept]
- Viral Myocarditis Pathway [NCIt concept]
gene_plays_role_in_process
- Apoptosis [NCIt concept]
- B-Cell Differentiation [NCIt concept]
- Cell Survival [NCIt concept]
- Cytokine Signaling [NCIt concept]
- Cytokine Signaling Process [NCIt concept]
- Inflammatory Response [NCIt concept]
- Intercellular Communication Process [NCIt concept]
- Ligand Binding [NCIt concept]
- Receptor Signaling [NCIt concept]
- Tumor Necrosis Factor Signaling Process [NCIt concept]

Keyword's position in hierarchy(ies) :

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