TNFRSF13C wt Allele

Preferred Label : TNFRSF13C wt Allele;

NCIt synonyms : BAFFR; CD268; BROMIX; Tumor Necrosis Factor Receptor Superfamily, Member 13C Gene; BR3; BAFF-R; CVID4; Prolixin Gene; TNF Receptor Superfamily Member 13C wt Allele;

NCIt definition : Human TNFRSF13C wild-type allele is located within 22q13.1-q13.31 and is approximately 2 kb in length. This allele, which encodes tumor necrosis factor receptor superfamily member 13C protein, is involved in promoting peripheral B-cell survival. Mutations in this gene are associated with common variable immunodeficiency-4.;

GenBank Accession Number : NM_052945;

Details

Origin ID

C111796;

UMLS CUI

C3813965;

Automatic exact mappings (from CISMeF team)
- Immunodeficiency, common variable, 4 [OMIM Phenotype]
- TNF receptor superfamily member 13C [ORDO Gene]
- Tumor necrosis factor receptor superfamily, member 13c [OMIM gene]
- b-cell activation factor receptor [MeSH Descriptor]
OMIM relation
- Tumor necrosis factor receptor superfamily, member 13c [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_is_element_in_pathway
- B-Cell Immune Response Pathway [NCIt concept]
- Cytokine-Cytokine Receptor Signaling Pathway [NCIt concept]
- Intestinal IgA Production Pathway [NCIt concept]
- Primary Immunodeficiency Pathway [NCIt concept]
gene_plays_role_in_process
- Apoptosis [NCIt concept]
- Cell Survival [NCIt concept]
- Cytokine Signaling [NCIt concept]
- Cytokine Signaling Process [NCIt concept]
- Immunity [NCIt concept]
- Intercellular Communication Process [NCIt concept]
- Ligand Binding [NCIt concept]
- Receptor Signaling [NCIt concept]
- Signal Transduction [NCIt concept]
- Tumor Necrosis Factor Signaling Process [NCIt concept]

Keyword's position in hierarchy(ies) :

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