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25 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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CD247
CD247 molecule
Chromosome 1 · 1q24.2
NCBI Gene: 919Ensembl: ENSG00000198821.12HGNC: HGNC:1677UniProt: A0A8V8TPP4
264PubMed Papers
21Diseases
0Drugs
8Pathogenic Variants
FUNCTIONAL ROLE
Hub GeneReceptor
RESEARCH IMPACT
Trending
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
cytoplasmplasma membraneFc-gamma receptor III complexprotein-macromolecule adaptor activityimmunodeficiency 25cutaneous Leishmaniasisasthmahypothyroidism
✦AI Summary

CD247 (CD3ζ) is a critical component of the T-cell receptor (TCR)-CD3 complex expressed on T lymphocytes and natural killer cells 1. It functions as a signal transduction molecule containing three immunoreceptor tyrosine-based activation motifs (ITAMs) in its cytoplasmic domain. Upon TCR engagement by antigen-presenting cells, CD247's ITAMs become phosphorylated by Src family kinases (LCK and FYN), creating docking sites for ZAP70 and initiating downstream signaling cascades essential for T-cell activation and adaptive immunity 2. CD247 is also involved in intrathymic T-cell differentiation and plays roles in activity-dependent synapse formation in retinal ganglion cells. CD247 dysfunction is clinically significant in multiple disease contexts. Homozygous null mutations cause immunodeficiency 25, while heterozygous nonsense mutations exert dominant-negative effects, reducing surface TCR expression and impairing T-cell signaling 2. CD247 deficiency is associated with systemic lupus erythematosus, with more than half of SLE patients showing attenuated or absent CD247 expression 3. Polymorphisms in CD247 are associated with type 1 diabetes, autoimmune thyroid disease 4, and rheumatoid arthritis 5. Additionally, CD247 expression levels serve as a potential biomarker for septic shock prognosis 6. Recent therapeutic applications exploit CD247's signaling properties in CAR-T cell engineering for cancer immunotherapy 7.

Sources cited
1
CD247 (CD3ζ) is expressed primarily in NK and T cells and is a component of the TCR-CD3 complex
PMID: 35388926
2
CD247 contains three ITAMs; heterozygous nonsense mutations exert dominant-negative effects on TCR expression and signaling
PMID: 38992472
3
CD247 deficiency is associated with systemic lupus erythematosus; more than half of SLE patients show attenuated or absent CD247 expression
PMID: 23525753
4
CD247 polymorphisms are associated with type 1 diabetes and autoimmune thyroid disease susceptibility
PMID: 27716086
5
CD247 polymorphisms show genome-wide significant association with rheumatoid arthritis risk
PMID: 23861880
6
CD247 expression levels serve as a potential biomarker for septic shock prognosis and patient stratification
PMID: 34397323
7
CD247 can be exploited in CAR-T cell engineering by using CRISPR-Cas gene editing to create CAR fusion-genes
PMID: 38493479
Disease Associationsⓘ21
immunodeficiency 25Open Targets
0.74Strong
cutaneous LeishmaniasisOpen Targets
0.58Moderate
asthmaOpen Targets
0.51Moderate
hypothyroidismOpen Targets
0.48Moderate
T-B- severe combined immunodeficiencyOpen Targets
0.46Moderate
T-B+ severe combined immunodeficiencyOpen Targets
0.46Moderate
T+ B+ severe combined immunodeficiencyOpen Targets
0.46Moderate
allergic rhinitisOpen Targets
0.45Moderate
allergic diseaseOpen Targets
0.45Moderate
immune system diseaseOpen Targets
0.43Moderate
Eczematoid dermatitisOpen Targets
0.41Moderate
respiratory system diseaseOpen Targets
0.41Moderate
systemic sclerodermaOpen Targets
0.39Weak
myxedemaOpen Targets
0.38Weak
T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zetaOpen Targets
0.38Weak
HIV infectionOpen Targets
0.37Weak
viral diseaseOpen Targets
0.37Weak
influenzaOpen Targets
0.37Weak
severe combined immunodeficiencyOpen Targets
0.34Weak
Hashimoto's thyroiditisOpen Targets
0.32Weak
Immunodeficiency 25UniProt
Pathogenic Variants8
NM_198053.3(CD247):c.301C>T (p.Gln101Ter)Pathogenic
not provided|Immunodeficiency 25|CD247-related disorder|Severe combined immunodeficiency disease|Cervical cancer|Adrenocortical carcinoma, hereditary
★★☆☆2026→ Residue 101
NM_198053.3(CD247):c.235C>T (p.Arg79Ter)Pathogenic
Immunodeficiency 25
★☆☆☆2021→ Residue 79
NM_198053.3(CD247):c.51dup (p.Ile18fs)Pathogenic
Immunodeficiency 25
★☆☆☆2017→ Residue 18
NM_198053.3(CD247):c.2T>C (p.Met1Thr)Pathogenic
Immunodeficiency 25
☆☆☆☆2013→ Residue 1
NM_198053.3(CD247):c.208C>T (p.Gln70Ter)Pathogenic
Immunodeficiency 25
☆☆☆☆2006→ Residue 70
NM_198053.3(CD247):c.208_210delinsTAT (p.Gln70Tyr)Pathogenic
Immunodeficiency 25
☆☆☆☆2006→ Residue 70
NM_198053.3(CD247):c.209A>T (p.Gln70Leu)Pathogenic
Immunodeficiency 25
☆☆☆☆2006→ Residue 70
NM_198053.3(CD247):c.208_209inv (p.Gln70Trp)Pathogenic
Immunodeficiency 25
☆☆☆☆2006→ Residue 70
View on ClinVar ↗
Related Genes
B2MProtein interaction100%LCKProtein interaction100%HCSTProtein interaction100%HLA-DRAProtein interaction100%ZAP70Protein interaction100%LILRA4Protein interaction99%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
41%
Liver
20%
Heart
3%
Ovary
3%
Brain
3%
Gene Interaction Network
Click a node to explore
CD247B2MLCKHCSTHLA-DRAZAP70LILRA4
PROTEIN STRUCTURE
Preparing viewer…
PDB2OQ1 · 1.90 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.63LoF Tolerant
pLIⓘ
0.66Intermediate
Observed/Expected LoF0.36 [0.22–0.63]
RankingsWhere CD247 stands among ~20K protein-coding genes
  • #1,422of 20,598
    Most Researched264 · top 10%
  • #3,024of 5,498
    Most Pathogenic Variants8
  • #4,483of 17,882
    Most Constrained (LOEUF)0.63
Genes detectedCD247
Sources retrieved25 papers
Response time—
📄 Sources
25▼
1
Disrupting the phase separation of KAT8-IRF1 diminishes PD-L1 expression and promotes antitumor immunity.
PMID: 36894639
Nat Cancer · 2023
1.00
2
Advances in CD247.
PMID: 35388926
Scand J Immunol · 2022
0.90
3
PMID: 34397323
Comb Chem High Throughput Screen · 2022
0.80
4
Integration of ζ-deficient CARs into the CD3ζ gene conveys potent cytotoxicity in T and NK cells.
PMID: 38493479
Blood · 2024
0.70
5
Discordant Restoration of TCR Expression and Function by CD247 Somatic Reversions.
PMID: 40711587
J Clin Immunol · 2025
0.68