CD247 wt Allele

Preferred Label : CD247 wt Allele;

NCIt synonyms : CD247 Molecule wt Allele; T3Z; TCRZ; CD3Z; CD3Z wt Allele;

NCIt definition : Human CD247 wild-type allele is located within 1q22-q23 and is approximately 88 kb in length. This allele, which encodes T-cell surface glycoprotein CD3 zeta chain protein, is involved in coupling antigen recognition to several intracellular signal transduction pathways in T cells. Both heritable and somatic defects in the CD247 gene are associated with T cell immunodeficiency.;

NCIt note : The CD247 gene produces two RNA transcripts via alternative splicing which encode distinct protein isoforms. Decreased levels of the T-cell surface glycoprotein CD3 zeta chain protein are associated with an impaired immune response.;

GenBank Accession Number : NM_198053;

Details

Origin ID

C52024;

UMLS CUI

C1707100;

OMIM relation
- Cd247 antigen [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_has_physical_location
- 1: 164219484-164131543 [NCIt concept]
gene_in_chromosomal_location
- 1q22-q23 [NCIt concept]
gene_is_element_in_pathway
- CSK Protein Kinase Activation Pathway [NCIt concept]
- CTL-mediated Immune Response Pathway [NCIt concept]
- CXCR4-Mediated Signaling Pathway [NCIt concept]
- Chagas Disease Pathway [NCIt concept]
- Cytotoxic T Cell Surface Pathway [NCIt concept]
- Downstream Signaling Pathway in Naive CD8+ T Cells [NCIt concept]
- HIV Induced T Cell Apoptosis Pathway [NCIt concept]
- HIV-1 Nef: Negative Effector Pathway for Fas and TNF-Alpha [NCIt concept]
- IL12 Signaling Pathway [NCIt concept]
- IL12/STAT4 Signaling Pathway [NCIt concept]
- IL17 Signaling Pathway [NCIt concept]
- NO2-Dependent IL12 Pathway [NCIt concept]
- Natural Killer Cell-Mediated Cytotoxicity Pathway [NCIt concept]
- Stathmin Pathway [NCIt concept]
- T Cell Receptor Signaling Pathway BioCarta [NCIt concept]
- T Cell Receptor Signaling Pathway KEGG [NCIt concept]
- T Cell Receptor and CD3 Complex Signaling Pathway [NCIt concept]
- T Helper Cell Surface Molecule Pathway [NCIt concept]
- T-Cell Activation Co-Stimulatory Signaling Pathway [NCIt concept]
- T-Cell Activation Pathway [NCIt concept]
- T-Cell Receptor Signaling Pathway in Naive CD4+ T Cells [NCIt concept]
- T-Cell Receptor Signaling Pathway in Naive CD8+ T Cells [NCIt concept]
- TCR Activation Pathway [NCIt concept]

Keyword's position in hierarchy(ies) :

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