IL12RB1 wt Allele

Preferred Label : IL12RB1 wt Allele;

NCIt synonyms : Interleukin 12 Receptor, Beta 1 wt Allele; IL12RB; IL12R; CD212; IL-12R-BETA1;

NCIt definition : Human IL12RB1 wild-type allele is located in the vicinity of 19p13.1 and is approximately 74 kb in length. This allele, which encodes interleukin-12 receptor beta-1 chain protein, is involved in IL12 signal transduction. Heritable defects in the IL12RB1 gene are a cause of susceptibility to mycobacterial disease.;

NCIt note : The IL12RB1 gene produces two RNA transcript variants via alternative splicing which, in turn, encode two distinct protein isoforms.;

GenBank Accession Number : NM_153701;

Details

Origin ID

C52044;

UMLS CUI

C1708420;

OMIM relation
- Interleukin 12 receptor, beta-1 [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
- 19: 18058697-18031704 [NCIt concept]
gene_in_chromosomal_location
- 19p13.1 [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]
- IL23-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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