IL12B wt Allele

Preferred Label : IL12B wt Allele;

NCIt synonyms : Interleukin 12B wt Allele; NKSF2; IL-12B; CLMF; CLMF2; NKSF; Interleukin 12B (Natural Killer Cell Stimulatory Factor 2, Cytotoxic Lymphocyte Maturation Factor 2, P40) Gene;

NCIt definition : Human IL12B wild-type allele is located within 5q31.1-q33.1 and is approximately 16 kb in length. This allele, which encodes interleukin-12 beta chain protein, plays a role in promoting the growth of both T cells and natural killer cells. It is also involved in the differentiation of both Th1 and Th2 cells. Overexpression of the IL12B gene is associated with multiple sclerosis. A polymorphism in the promoter region of this gene is associated with the severity of both atopic and non-atopic asthma in children. Heritable defects in the IL12B gene are a cause of susceptibility to mycobacterial disease.;

NCIt note : Certain polymorphisms in the IL12B gene may affect the final steps in gastric carcinogenesis in patients with H. pylori infection.;

GenBank Accession Number : NM_002187;

Détails

Origin ID

C52043;

UMLS CUI

C1704795;

OMIM relation
- Interleukin 12b [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_associated_with_disease
- Asthma [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_has_physical_location
- 5: 158690059-158674369 [NCIt concept]
gene_in_chromosomal_location
- 5q31.1-q33.1 [NCIt concept]
gene_is_element_in_pathway
- Allograft Rejection Pathway [NCIt concept]
- Amoebiasis Pathway [NCIt concept]
- Chagas Disease Pathway [NCIt concept]
- Cytokine-Cytokine Receptor Signaling Pathway [NCIt concept]
- IL12 Signaling Pathway [NCIt concept]
- IL12-Mediated Signaling Pathway [NCIt concept]
- IL23-Mediated Signaling Pathway [NCIt concept]
- IL27-Mediated Signaling Pathway [NCIt concept]
- Jak-STAT Signaling Pathway [NCIt concept]
- Leishmaniasis Infection Pathway [NCIt concept]
- Malaria Pathway [NCIt concept]
- NO2-Dependent IL12 Pathway [NCIt concept]
- RIG-I-Like Receptor Signaling Pathway [NCIt concept]
- Th1/Th2 Differentiation Pathway [NCIt concept]
- Toll-Like Receptor Signaling Pathway [NCIt concept]
- Type I Diabetes Mellitus Pathway [NCIt concept]
gene_plays_role_in_process
- Cell Differentiation Process [NCIt concept]
- Cell Proliferation Regulatory Process [NCIt concept]
- Cell-Mediated Immunity [NCIt concept]
- Cytokine Receptor Activation [NCIt concept]
- Cytokine Receptor Binding [NCIt concept]
- Cytokine Signaling [NCIt concept]
- Cytokine Signaling Process [NCIt concept]
- Intercellular Communication Process [NCIt concept]
- Interleukin Signaling Process [NCIt concept]
- NK Cell Activation [NCIt concept]
- Receptor Signaling [NCIt concept]
- T-Cell Activation [NCIt concept]

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

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