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GeneE
25 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
CD3E
CD3 epsilon subunit of T-cell receptor complex
Chromosome 11 Β· 11q23.3
NCBI Gene: 916Ensembl: ENSG00000198851.11HGNC: HGNC:1674UniProt: P07766
164PubMed Papers
21Diseases
22Drugs
21Pathogenic Variants
FUNCTIONAL ROLE
Hub GeneReceptor
RESEARCH IMPACT
Trending
CLINICAL
FDA Approved TargetOMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
plasma membraneSH3 domain bindingprotein-macromolecule adaptor activityT cell receptor compleximmunodeficiency 18neoplasmmultiple myelomafollicular lymphoma
✦AI Summary

CD3E encodes the epsilon subunit of the T-cell receptor (TCR)-CD3 complex, a critical component of adaptive immunity located on T-lymphocyte surfaces 1. As part of the TCR-CD3 signaling apparatus, CD3E works with CD3D, CD3G, and CD247/CD3Z to transmit antigen-induced signals across the cell membrane when antigen-presenting cells activate the TCR 12. CD3E contains immunoreceptor tyrosine-based activation motifs (ITAMs) in its cytoplasmic domain that become phosphorylated by Src family kinases upon TCR engagement, recruiting and activating downstream signaling proteins like ZAP70 3. Notably, CD3E functions as a self-restrained signaling tuner: while some ITAM phosphorylation events activate T cells, mono-phosphorylated CD3E ITAMs selectively recruit inhibitory Csk kinase to attenuate TCR signaling 3. CD3E also serves as a receptor for ITPRIPL1, whose binding inhibits T-cell activation by blocking CD3E-ZAP70 interaction and downstream signaling cascades, enabling tumor immune evasion 4. Additionally, CD3E mediates TCR internalization and regulates cell surface expression through endocytosis. Mutations in CD3E cause Immunodeficiency 18, manifesting as severe combined immunodeficiency with complete T-cell developmental block 5.

Sources cited
1
CD3Ξ΅ structure and signaling requirements differ between Ξ±Ξ² and Ξ³Ξ΄ TCRs; CD3Ξ΅ PRS exposure occurs with Ξ±Ξ² TCR activating ligands and is required for Ξ±Ξ² TCR signaling
PMID: 31994778
2
ITPRIPL1 functions as inhibitory ligand of CD3Ξ΅; binding impedes T cell activation by decreasing calcium influx and ZAP70 phosphorylation
PMID: 38614099
3
LAG-3 forms condensate with CD3Ξ΅ through FSAL motif, disrupting CD3Ξ΅/Lck association and suppressing T cell activation
PMID: 40592325
4
CD3Ξ΅ contains ITAMs that undergo phosphorylation; mono-phosphorylated CD3Ξ΅ ITAMs recruit inhibitory Csk kinase to attenuate TCR signaling; CD3Ξ΅ cytoplasmic domain improves CAR-T cell function
PMID: 32730808
5
Homozygous mutations in CD3E gene cause severe combined immunodeficiency with complete block in T-cell development at double-negative to double-positive thymocyte transition
PMID: 16264327
Disease Associationsβ“˜21
immunodeficiency 18Open Targets
0.75Strong
neoplasmOpen Targets
0.60Moderate
multiple myelomaOpen Targets
0.59Moderate
follicular lymphomaOpen Targets
0.58Moderate
diffuse large B-cell lymphomaOpen Targets
0.58Moderate
type 1 diabetes mellitusOpen Targets
0.56Moderate
acute lymphoblastic leukemiaOpen Targets
0.54Moderate
small cell lung carcinomaOpen Targets
0.53Moderate
B-cell acute lymphoblastic leukemiaOpen Targets
0.50Moderate
AscitesOpen Targets
0.49Moderate
T-B- severe combined immunodeficiencyOpen Targets
0.46Moderate
T-B+ severe combined immunodeficiencyOpen Targets
0.46Moderate
T+ B+ severe combined immunodeficiencyOpen Targets
0.46Moderate
graft versus host diseaseOpen Targets
0.45Moderate
lymphoid leukemiaOpen Targets
0.41Moderate
B-cell non-Hodgkins lymphomaOpen Targets
0.41Moderate
cancerOpen Targets
0.39Weak
T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zetaOpen Targets
0.37Weak
ulcerative colitisOpen Targets
0.34Weak
non-Hodgkins lymphomaOpen Targets
0.33Weak
Immunodeficiency 18UniProt
Pathogenic Variants21
NM_000733.4(CD3E):c.103+1G>ALikely pathogenic
Immunodeficiency 18
β˜…β˜…β˜†β˜†2025
NM_000733.4(CD3E):c.288T>A (p.Tyr96Ter)Pathogenic
Severe combined immunodeficiency disease|Immunodeficiency 18
β˜…β˜…β˜†β˜†2025β†’ Residue 96
NM_000733.4(CD3E):c.173del (p.Leu58fs)Pathogenic
not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 58
NM_000733.4(CD3E):c.131_132del (p.Thr44fs)Pathogenic
Immunodeficiency 18
β˜…β˜…β˜†β˜†2023β†’ Residue 44
NM_000733.4(CD3E):c.71-2A>GLikely pathogenic
Immunodeficiency 18
β˜…β˜†β˜†β˜†2026
NM_000733.4(CD3E):c.416dup (p.Cys139fs)Pathogenic
Immunodeficiency 18
β˜…β˜†β˜†β˜†2025β†’ Residue 139
NM_000733.4(CD3E):c.49+1G>CPathogenic
Immunodeficiency 18
β˜…β˜†β˜†β˜†2025
NM_000733.4(CD3E):c.86-1G>ALikely pathogenic
Immunodeficiency 18
β˜…β˜†β˜†β˜†2024
NM_000733.4(CD3E):c.310A>T (p.Lys104Ter)Pathogenic
Immunodeficiency 18
β˜…β˜†β˜†β˜†2024β†’ Residue 104
NM_000733.4(CD3E):c.520+1G>ALikely pathogenic
Immunodeficiency 18
β˜…β˜†β˜†β˜†2024
NM_000733.4(CD3E):c.353-1G>ALikely pathogenic
Immunodeficiency 18
β˜…β˜†β˜†β˜†2024
NM_000733.4(CD3E):c.490C>T (p.Arg164Ter)Pathogenic
Immunodeficiency 18
β˜…β˜†β˜†β˜†2024β†’ Residue 164
NM_000733.4(CD3E):c.190A>T (p.Lys64Ter)Pathogenic
Immunodeficiency 18
β˜…β˜†β˜†β˜†2023β†’ Residue 64
NM_000733.4(CD3E):c.520+2T>CLikely pathogenic
Immunodeficiency 18
β˜…β˜†β˜†β˜†2023
NM_000733.4(CD3E):c.49+1G>APathogenic
Immunodeficiency 18
β˜…β˜†β˜†β˜†2023
NM_000733.4(CD3E):c.472A>T (p.Lys158Ter)Pathogenic
Immunodeficiency 18
β˜…β˜†β˜†β˜†2023β†’ Residue 158
NM_000733.4(CD3E):c.428del (p.Gly143fs)Pathogenic
Immunodeficiency 18
β˜…β˜†β˜†β˜†2023β†’ Residue 143
NM_000733.4(CD3E):c.103+1G>TLikely pathogenic
Immunodeficiency 18
β˜…β˜†β˜†β˜†2023
NM_000733.4(CD3E):c.261_262del (p.Ser88fs)Pathogenic
Immunodeficiency 18
β˜…β˜†β˜†β˜†2019β†’ Residue 88
NM_000733.4(CD3E):c.128_129del (p.Thr43fs)Pathogenic
Immunodeficiency 18, severe combined immunodeficiency variant
β˜†β˜†β˜†β˜†2020β†’ Residue 43
View on ClinVar β†—
Drug Targets22
BLINATUMOMABApproved
B-lymphocyte antigen CD19 cross-linking agent
acute lymphoblastic leukemia
CATUMAXOMABApproved
Epithelial cell adhesion molecule cross-linking agent
ELRANATAMABApproved
T cell surface glycoprotein CD3 binding agent
multiple myeloma
EPCORITAMABApproved
B-lymphocyte antigen CD20 binding agent
follicular lymphoma
ERTUMAXOMABPhase II
T-cell surface glycoprotein CD3 epsilon chain cross-linking agent
breast cancer
FBT-A05Phase I/II
B-lymphocyte antigen CD20 cross-linking agent
chronic lymphocytic leukemia
FLOTETUZUMABPhase II
Interleukin-3 receptor subunit alpha binding agent
acute leukemia of ambiguous lineage
FORALUMABPhase II
T cell surface glycoprotein CD3 inhibitor
COVID-19
GLOFITAMABApproved
B-lymphocyte antigen CD20 binding agent
diffuse large B-cell lymphoma
HOKT3Phase II
T-cell surface glycoprotein CD3 epsilon chain inhibitor
psoriatic arthritis
MEDI-565Phase I
T-cell surface glycoprotein CD3 epsilon chain cross-linking agent
MOSUNETUZUMABApproved
B-lymphocyte antigen CD20 binding agent
follicular lymphoma
MUROMONAB-CD3Approved
T cell surface glycoprotein CD3 inhibitor
graft versus host disease
ODRONEXTAMABApproved
B-lymphocyte antigen CD20 binding agent
follicular lymphoma
OTELIXIZUMABPhase III
T-cell surface glycoprotein CD3 epsilon chain binding agent
type 1 diabetes mellitus
RESIMMUNEPhase II
Elongation factor 2 inhibitor
Cutaneous T-cell lymphoma
SOLITOMABPhase I
Epithelial cell adhesion molecule cross-linking agent
TALQUETAMABApproved
G-protein coupled receptor family C group 5 member D binding agent
multiple myeloma
TARLATAMABApproved
Delta-like protein 3 binding agent
small cell lung carcinoma
TECLISTAMABApproved
T cell surface glycoprotein CD3 binding agent
multiple myeloma
TEPLIZUMABApproved
T-cell surface glycoprotein CD3 epsilon chain other
type 1 diabetes mellitus
VISILIZUMABPhase III
T-cell surface glycoprotein CD3 epsilon chain inhibitor
graft versus host disease
Related Genes
B2MProtein interaction100%LCKProtein interaction100%HMBSProtein interaction100%HLA-DRAProtein interaction100%CD5Protein interaction100%HLA-DRB1Protein interaction99%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
36%
Liver
11%
Heart
7%
Brain
2%
Ovary
2%
Gene Interaction Network
Click a node to explore
CD3EB2MLCKHMBSHLA-DRACD5HLA-DRB1
PROTEIN STRUCTURE
Preparing viewer…
PDB5QU2 Β· 1.04 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.66LoF Tolerant
pLIβ“˜
0.47Tolerant
Observed/Expected LoF0.39 [0.24–0.66]
RankingsWhere CD3E stands among ~20K protein-coding genes
  • #2,726of 20,598
    Most Researched164 Β· top quartile
  • #135of 1,025
    FDA-Approved Drug Targets12 Β· top quartile
  • #2,134of 5,498
    Most Pathogenic Variants21
  • #4,821of 17,882
    Most Constrained (LOEUF)0.66
Genes detectedCD3E
Sources retrieved25 papers
Response timeβ€”
πŸ“„ Sources
25β–Ό
1
Ξ±Ξ² and Ξ³Ξ΄ T cell receptors: Similar but different.
PMID: 31994778
J Leukoc Biol Β· 2020
1.00
2
ITPRIPL1 binds CD3Ξ΅ to impede TΒ cell activation and enable tumor immune evasion.
PMID: 38614099
Cell Β· 2024
0.90
3
PMID: 39190734
0.80
4
From TCR fundamental research to innovative chimeric antigen receptor design.
PMID: 39433885
Nat Rev Immunol Β· 2025
0.76
5
Proximity between LAG-3 and the T cell receptor guides suppression of T cell activation and autoimmunity.
PMID: 40592325
Cell Β· 2025
0.70