IL4R wt Allele

Preferred Label : IL4R wt Allele;

NCIt synonyms : CD124; Interleukin 4 Receptor wt Allele; IL4RA; Interleukin 4 Receptor, Alpha Gene; 582J2.1; IL-4RA;

NCIt definition : Human IL4R wild-type allele is located within 16p11.2-12.1 and is approximately 35 kb in length. This allele, which encodes interleukin-4 receptor subunit alpha protein, plays a role in Th2 cell differentiation, immunoglobulin E (IgE) production and cellular proliferation regulation. Allelic variants are associated with atopy. This condition can be typified as allergic rhinitis, sinusitus, asthma, or eczema.;

GenBank Accession Number : NM_000418;

Details

Origin ID

C51366;

UMLS CUI

C1705220;

OMIM relation
- Interleukin 4 receptor [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]
- Atopy [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_has_physical_location
- 16: 27248888-27283596 [NCIt concept]
gene_in_chromosomal_location
- 16p11.2-12.1 [NCIt concept]
gene_is_element_in_pathway
- Cytokine-Cytokine Receptor Signaling Pathway [NCIt concept]
- Hematopoietic Cell Lineage Pathway [NCIt concept]
- IL4 Signaling Pathway [NCIt concept]
- IL4-Mediated Signaling Pathway [NCIt concept]
- Jak-STAT Signaling Pathway [NCIt concept]
- T-Cell Polarization Pathway [NCIt concept]
- Th1/Th2 Differentiation Pathway [NCIt concept]
gene_plays_role_in_process
- Cytokine Signaling [NCIt concept]
- Cytokine Signaling Process [NCIt concept]
- Immune Response Process [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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