CD3D Gene: Structure, Function, and Clinical Significance
A comprehensive overview of the CD3D gene, its role in T cell immunity, associated diseases, and molecular characteristics.
Gene Information Card
| Symbol | CD3D |
|---|---|
| Full Name | CD3 delta subunit of T-cell receptor complex |
| Gene Type | Protein coding |
| Chromosomal Location | 11q23.3 |
| NCBI Gene ID | 915 ncbi.nlm.nih.gov/gene/915 |
| Ensembl ID | ENSG00000167286 |
| UniProt ID | P04234 |
| OMIM ID | 186790 |
| HGNC ID | 1673 |
| Aliases | CD3-DELTA, T3D, IMD19 |
Description
The CD3D gene encodes the CD3 delta polypeptide, a component of the T-cell receptor (TCR) complex. This transmembrane protein is essential for TCR assembly, signal transduction, and T-cell development. CD3D is expressed on the surface of mature T lymphocytes and plays a critical role in adaptive immune responses. Mutations in CD3D can lead to severe combined immunodeficiency (SCID) or other immune dysregulation disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Severe combined immunodeficiency (SCID) | Loss-of-function mutations in CD3D impair TCR complex assembly and signaling, leading to defective T-cell development and function. | ClinVar, OMIM |
| Immunodeficiency 19 (IMD19) | Biallelic mutations in CD3D cause autosomal recessive SCID with absence of T cells and natural killer cells. | OMIM, PubMed |
| Autoimmune diseases (e.g., type 1 diabetes) | Polymorphisms in CD3D may influence T-cell activation thresholds, contributing to autoimmune susceptibility. | GWAS studies (not directly in provided sources, but inferred from literature) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | High (nTPM ~ 200) | High expression in lymphoid tissues |
| Spleen | High (nTPM ~ 150) | High expression in spleen |
| Blood | Medium (nTPM ~ 80) | Expression in peripheral blood leukocytes |
| Thymus | High (nTPM ~ 120) | Expression in thymocytes |
| Bone marrow | Low (nTPM ~ 20) | Low expression in bone marrow |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Jurkat (T cell leukemia) | High | T cell line with high CD3D expression |
| Ramos (B cell lymphoma) | Low | B cell line with minimal expression |
| K562 (chronic myelogenous leukemia) | Low | Non-T cell line with low expression |
| MCF7 (breast cancer) | Low | Epithelial cell line with low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.202C>T (p.Arg68Ter) | Nonsense | Rare | Premature stop codon leading to truncated protein and loss of function |
| c.274G>A (p.Gly92Ser) | Missense | Rare | Alters protein structure, impairing TCR complex assembly |
| c.IVS2+1G>A | Splice site | Rare | Disrupts splicing, leading to aberrant mRNA and reduced protein expression |
Mutation functional classification
Loss of Function (LOF)
Most CD3D mutations are loss-of-function, leading to SCID due to defective T-cell development.
Gain of Function (GOF)
No gain-of-function mutations reported; CD3D primarily acts as a signaling component.
Dominant Negative (DN)
Some missense mutations may exert dominant-negative effects by interfering with TCR complex assembly, though most are recessive.
View complete mutation data：
Gene Ontology (GO)
| • T cell receptor complex | • protein homodimerization activity |
| • transmembrane signaling receptor activity | • immune response |
| • cell surface receptor signaling pathway | • T cell activation |
Pathways
• T cell receptor signaling pathway
• PD-1 signaling
• Costimulation by the CD28 family
• Th17 cell differentiation
Protein Summary
The CD3D protein (UniProt P04234) is a 171-amino acid type I transmembrane protein with an extracellular immunoglobulin-like domain, a transmembrane region, and a cytoplasmic tail containing immunoreceptor tyrosine-based activation motifs (ITAMs). It forms heterodimers with CD3 epsilon (CD3E) and associates with the TCR alpha/beta heterodimer to form the complete TCR complex. Upon antigen recognition, CD3D ITAMs are phosphorylated by Lck, recruiting ZAP-70 and initiating downstream signaling cascades that lead to T-cell activation and proliferation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CD3D Knockout HEK293 Cell Line | EDJ-KQ3526 | Human | 915 | Details Get a Quote |
| CD3D Knockout HeLa Cell Line | EDJ-KQ52812 | Human | 915 | Details Get a Quote |
| CD3D Knockout A-549 Cell Line | EDJ-KQ61283 | Human | 915 | Details Get a Quote |
| CD3D Knockout HCT 116 Cell Line | EDJ-KQ69778 | Human | 915 | Details Get a Quote |
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