CD3E Gene: Structure, Function, and Clinical Significance
A comprehensive overview of the CD3E gene, its protein product, associated diseases, expression patterns, and mutations.
Gene Information Card
| Symbol | CD3E |
|---|---|
| Full Name | CD3 epsilon subunit of T-cell receptor complex |
| Gene Type | protein-coding |
| Chromosomal Location | 11q23.3 |
| NCBI Gene ID | 916 ncbi.nlm.nih.gov/gene/916 |
| Ensembl ID | ENSG00000198851 |
| UniProt ID | P07766 |
| OMIM ID | 186830 |
| HGNC ID | 1674 |
| Aliases | CD3-epsilon, T3E, IMD18 |
Description
The CD3E gene encodes the epsilon subunit of the T-cell receptor (TCR) complex, which is essential for T-cell development and activation. CD3E is a type I transmembrane protein that associates with other CD3 subunits (gamma, delta, zeta) and the TCR alpha/beta heterodimer to form the complete TCR complex. Upon antigen recognition, CD3E undergoes phosphorylation and recruits downstream signaling molecules, leading to T-cell activation. Mutations in CD3E cause severe combined immunodeficiency (SCID) characterized by absence of T cells and impaired cellular immunity.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Severe combined immunodeficiency (SCID) autosomal recessive T-cell-negative/B-cell-positive/NK-cell-positive | Loss-of-function mutations in CD3E lead to defective TCR complex assembly and signaling, resulting in impaired T-cell development and function. | OMIM #186830; ClinVar |
| Immunodeficiency 18 (IMD18) | Mutations in CD3E cause a form of SCID with similar mechanism. | OMIM #615617 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymphoid tissues (spleen, lymph node, tonsil) | High (e.g., spleen nTPM ~ 200) | High |
| Blood (T-cells) | High (nTPM ~ 150) | High |
| Bone marrow | Moderate (nTPM ~ 50) | Moderate |
| Thymus | High (nTPM ~ 180) | High |
| Other tissues (e.g., brain, liver) | Low or not detected | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Jurkat (T-cell leukemia) | High (nTPM ~ 300) | T-cell line, expresses CD3E |
| MOLT-4 (T-cell leukemia) | High (nTPM ~ 250) | T-cell line |
| Ramos (B-cell lymphoma) | Low (nTPM ~ 5) | B-cell line, minimal expression |
| HeLa (cervical carcinoma) | Low (nTPM ~ 2) | Non-hematopoietic, minimal expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.202-2A>G (splice site) | Splice variant | Rare | Loss of function, leads to SCID |
| p.Arg90Ter (nonsense) | Nonsense | Rare | Truncated protein, loss of function |
| p.Leu107Pro (missense) | Missense | Rare | Disrupts protein folding, loss of function |
| p.Gly111Arg (missense) | Missense | Rare | Impaired TCR assembly |
Mutation functional classification
Loss of Function (LOF)
Most CD3E mutations are loss-of-function, leading to SCID due to defective TCR signaling.
Gain of Function (GOF)
No gain-of-function mutations reported in CD3E.
Dominant Negative (DN)
Some missense mutations may exert dominant-negative effects by interfering with TCR complex assembly, but most are recessive.
View complete mutation data：
Gene Ontology (GO)
| • protein binding | • transmembrane signaling receptor activity |
| • T cell receptor complex | • plasma membrane |
| • immune response | • T cell activation |
| • signal transduction |
Pathways
• T cell receptor signaling pathway (KEGG hsa04660)
• PD-1 signaling
• Costimulation by the CD28 family
• Th17 cell differentiation
Protein Summary
The CD3E protein (UniProt P07766) is a 207-amino-acid type I membrane protein with an extracellular immunoglobulin-like domain, a transmembrane region, and a cytoplasmic tail containing immunoreceptor tyrosine-based activation motifs (ITAMs). It is a critical component of the TCR complex, mediating signal transduction after antigen recognition. CD3E is expressed on the surface of T cells and plays a role in thymocyte development and peripheral T-cell activation. Defects in CD3E lead to immunodeficiency.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CD3E Knockout HEK293 Cell Line | EDJ-KQ3486 | Human | 916 | Details Get a Quote |
| CD3E Knockout HeLa Cell Line | EDJ-KQ52813 | Human | 916 | Details Get a Quote |
| CD3E Knockout A-549 Cell Line | EDJ-KQ61284 | Human | 916 | Details Get a Quote |
| CD3E Knockout HCT 116 Cell Line | EDJ-KQ69779 | Human | 916 | Details Get a Quote |
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