IL2RG wt Allele

Preferred Label : IL2RG wt Allele;

NCIt synonyms : CD132; SCIDX; IMD4; P64; SCIDX1; Interleukin 2 Receptor Subunit Gamma wt Allele; IL-2RG; Interleukin Receptor, Gamma-C Gene; Combined Immunodeficiency, X-Linked Gene; CIDX; Interleukin 2 Receptor, Gamma (Severe Combined Immunodeficiency) Gene; Interleukin Receptor, Common Gamma Chain Gene; Interleukin 2 Receptor, Gamma Gene;

NCIt definition : Human IL2RG wild-type allele is located in the vicinity of Xq13.1 and is approximately 4 kb in length. This allele, which encodes cytokine receptor common gamma protein, plays a role in interleukin signal transduction and regulation. Mutations in the gene cause X-linked severe combined immunodeficiency or (XSCID).;

NCIt note : IL2RG is necessary for normal growth and differentiation of T cells, B cells, natural killer cells, glioma cells, and cells of the monocyte lineage.;

GenBank Accession Number : NM_000206;

Details

Origin ID

C51364;

UMLS CUI

C1706035;

Automatic exact mappings (from CISMeF team)
- Combined immunodeficiency, X-linked [OMIM Phenotype]
- Interleukin 2 receptor, gamma [OMIM gene]
- Severe combined immunodeficiency, X-linked [OMIM Phenotype]
- T-B+ severe combined immunodeficiency due to gamma chain deficiency [ORDO Disease]
- X-linked severe combined immunodeficiency [DO Concept]
- interleukin 2 receptor subunit gamma [ORDO Gene]
- interleukin receptor common gamma subunit [MeSH Descriptor]
- severe combined immunodeficiency [MeSH Descriptor]
- transcription factor 12 [ORDO Gene]
- x-linked combined immunodeficiency diseases [MeSH Descriptor]
OMIM relation
- Interleukin 2 receptor, gamma [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]
- X-Linked Severe Combined Immunodeficiency [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_has_physical_location
- X: 70114424-70110580 [NCIt concept]
gene_in_chromosomal_location
- Xq13.1 [NCIt concept]
gene_is_element_in_pathway
- Cytokine-Cytokine Receptor Signaling Pathway [NCIt concept]
- Downstream Signaling Pathway in Naive CD8+ T Cells [NCIt concept]
- Endocytosis Pathway [NCIt concept]
- IL12-Mediated Signaling Pathway [NCIt concept]
- IL2 Signaling Pathway [NCIt concept]
- IL2/PI3K Signaling Pathway [NCIt concept]
- IL2/STAT5 Signaling Pathway [NCIt concept]
- IL2RB Pathway [NCIt concept]
- IL4 Signaling Pathway [NCIt concept]
- IL4-Mediated Signaling 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]

Keyword's position in hierarchy(ies) :

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