CD3D wt Allele

Preferred Label : CD3D wt Allele;

NCIt synonyms : CD3D Antigen, Delta Polypeptide (TiT3 Complex) wt Allele; T3D;

NCIt definition : Human CD3D wild-type allele is located within 11q23 and is approximately 4 kb in length. This allele, which encodes T-cell surface glycoprotein CD3 delta chain protein, plays a role in the regulation of signal transduction underlying the developmental transition of immature thymocytes to mature CD4 or CD8 T cells. Certain allelic variants of the CD3D gene cause a form of severe combined immunodeficiency (SCID) characterized by the absence of T cells but normal numbers of B cells and NK cells.;

GenBank Accession Number : NM_000732;

Details

Origin ID

C52021;

UMLS CUI

C1705089;

OMIM relation
- Cd3 antigen, delta subunit [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_has_physical_location
- 11: 117718669-117714999 [NCIt concept]
gene_in_chromosomal_location
- 11q23 [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]
- Hematopoietic Cell Lineage Pathway [NCIt concept]
- IL12 Signaling Pathway [NCIt concept]
- IL12/STAT4 Signaling Pathway [NCIt concept]
- IL17 Signaling Pathway [NCIt concept]
- NO2-Dependent IL12 Pathway [NCIt concept]
- Primary Immunodeficiency 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]
gene_plays_role_in_process
- Cell Differentiation Process [NCIt concept]
- T-Cell Activation [NCIt concept]
- T-Cell Differentiation in the Thymus [NCIt concept]
- T-Cell Receptor Activation [NCIt concept]

Keyword's position in hierarchy(ies) :

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