IL12RB2 wt Allele

Preferred Label : IL12RB2 wt Allele;

NCIt synonyms : Interleukin 12 Receptor, Beta 2 wt Allele; Interleukin 12 Receptor, Beta-2 Gene; RP11-102M16.1; IL-12RB2;

NCIt definition : Human IL12RB2 wild-type allele is located within 1p31.3-p31.2 and is approximately 90 kb in length. This allele, which encodes interleukin-12 receptor beta-2 chain protein, plays a role in the proliferation of both T cells and natural killer cells. It is also involved in Th1 cell differentiation. Up-regulation of the IL12RB2 gene is associated with certain infectious diseases such as Crohn's disease and leprosy.;

NCIt note : Expression of the IL12RB2 gene is up-regulated by interferon gamma in Th1 cells. This gene has been identified as a putative tumor suppressor gene in chronic B cell malignancies.;

GenBank Accession Number : NM_001559;

Details

Origin ID

C52045;

UMLS CUI

C1708421;

Automatic exact mappings (from CISMeF team)
- Interleukin 12 receptor, beta-2 [OMIM gene]
OMIM relation
- Interleukin 12 receptor, beta-2 [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_has_physical_location
- 1: 67485068-67574604 [NCIt concept]
gene_in_chromosomal_location
- 1p31.3-p31.2 [NCIt concept]
gene_is_element_in_pathway
- Cytokine-Cytokine Receptor Signaling Pathway [NCIt concept]
- IL12 Signaling Pathway [NCIt concept]
- IL12-Mediated Signaling Pathway [NCIt concept]
- IL27-Mediated Signaling Pathway [NCIt concept]
- Jak-STAT Signaling Pathway [NCIt concept]
- NO2-Dependent IL12 Pathway [NCIt concept]
gene_plays_role_in_process
- Cytokine Signaling [NCIt concept]
- Cytokine Signaling Process [NCIt concept]
- Host Defense Mechanism [NCIt concept]
- Inflammatory Response [NCIt concept]
- Intercellular Communication Process [NCIt concept]
- Interleukin Signaling Process [NCIt concept]
- Ligand Binding [NCIt concept]
- Receptor Signaling [NCIt concept]

Keyword's position in hierarchy(ies) :

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