IL7R wt Allele

Preferred Label : IL7R wt Allele;

NCIt synonyms : IL-7R-alpha; CDW127; Interleukin 7 Receptor wt Allele; CD127; Interleukin-7 Receptor Subunit Alpha Gene;

NCIt definition : Human IL7R wild-type allele is located within 5p13 and is approximately 20 kb in length. This allele, which encodes interleukin-7 receptor alpha chain protein, is involved in V(D)J recombination during lymphocyte development.;

NCIt note : Knockout studies in mice suggested that blocking apoptosis is an essential function of this protein during differentiation and activation of T lymphocytes.;

GenBank Accession Number : NM_002185;

Details

Origin ID

C51369;

UMLS CUI

C1706034;

Automatic exact mappings (from CISMeF team)
- CD127 [LOINC component]
- Interleukin 7 receptor [OMIM gene]
- interleukin 7 receptor [ORDO Gene]
- interleukin-7 receptor alpha subunit [MeSH Descriptor]
- interleukin-7 receptor, alpha chain [MeSH Supplementary Concept]
OMIM relation
- Interleukin 7 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
- Severe Combined Immunodeficiency [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_has_physical_location
- 5: 35892748-35912681 [NCIt concept]
gene_in_chromosomal_location
- 5p13 [NCIt concept]
gene_is_element_in_pathway
- Cytokine-Cytokine Receptor Signaling Pathway [NCIt concept]
- Hematopoietic Cell Lineage Pathway [NCIt concept]
- IL7 Signaling Pathway [NCIt concept]
- Jak-STAT Signaling Pathway [NCIt concept]
- Primary Immunodeficiency Pathway [NCIt concept]
gene_plays_role_in_process
- Cytokine Signaling [NCIt concept]
- Cytokine Signaling Process [NCIt concept]
- Intercellular Communication Process [NCIt concept]
- Interleukin Signaling Process [NCIt concept]
- Ligand Binding [NCIt concept]
- Receptor Signaling [NCIt concept]
- V(D)J Recombination [NCIt concept]

Keyword's position in hierarchy(ies) :

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