CARD11 wt Allele

Preferred Label : CARD11 wt Allele;

NCIt synonyms : BIMP3; CARMA1; MGC133069; Caspase Recruitment Domain Family, Member 11 Gene; BENTA; Caspase Recruitment Domain Family Member 11 wt Allele; PPBL; IMD11; IMD11A;

NCIt definition : Human CARD11 wild-type allele is located within 7p22 and is 138 kb in length. This allele, which encodes caspase recruitment domain-containing protein 11, plays a role in apoptosis regulation and signal transduction. Mutation of the gene is associated with immunodeficiency types 11A and 11B and with B-cell expansion with NFKB and T-cell anergy (BENTA).;

GenBank Accession Number : NM_032415;

Détails

Origin ID

C60669;

UMLS CUI

C1879917;

OMIM relation
- Caspase recruitment domain-containing protein 11 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 7p22 [NCIt concept]
gene_is_element_in_pathway
- BCR Signaling Pathway [NCIt concept]
- T Cell Receptor Signaling Pathway KEGG [NCIt concept]
- T-Cell Receptor Signaling Pathway in Naive CD4+ T Cells [NCIt concept]
- T-Cell Receptor Signaling Pathway in Naive CD8+ T Cells [NCIt concept]
gene_plays_role_in_process
- Apoptosis [NCIt concept]
- Caspase-Dependent Apoptosis [NCIt concept]
- Positive Regulation of Apoptosis [NCIt concept]
- T-Cell Activation [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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