CD3E Chromosome 11
CD3 epsilon subunit of T-cell receptor complex
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What This Gene Does
The protein encoded by this gene is the CD3-epsilon polypeptide, which together with CD3-gamma, -delta and -zeta, and the T-cell receptor alpha/beta and gamma/delta heterodimers, forms the T-cell receptor-CD3 complex. This complex plays an important role in coupling antigen recognition to several intracellular signal-transduction pathways. The genes encoding the epsilon, gamma and delta polypeptides are located in the same cluster on chromosome 11. The epsilon polypeptide plays an essential role in T-cell development. Defects in this gene cause immunodeficiency. This gene has also been linked to a susceptibility to type I diabetes in women. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
CD molecules
Locus Type
gene with protein product
Location
11q23.3
Ensembl
ENSG00000198851
Associated Conditions (5)
Immunodeficiency 18
Lung cancer
Inborn genetic diseases
severe combined immunodeficiency variant
Severe combined immunodeficiency disease
Key Variants
RS140639753
Conflicting classifications of pathogenicity
Immunodeficiency 18, Lung cancer, Immunodeficiency 18
Health Risk
RS143015515
Conflicting classifications of pathogenicity
Immunodeficiency 18, Immunodeficiency 18
Health Risk
RS143630318
Conflicting classifications of pathogenicity
Immunodeficiency 18, Immunodeficiency 18
Health Risk
RS143868906
Conflicting classifications of pathogenicity
Immunodeficiency 18, Immunodeficiency 18
Health Risk
RS148647954
Conflicting classifications of pathogenicity
Immunodeficiency 18, Immunodeficiency 18
Health Risk
RS202200315
Conflicting classifications of pathogenicity
Immunodeficiency 18, Immunodeficiency 18
Health Risk
RS374456909
Conflicting classifications of pathogenicity
Immunodeficiency 18, Immunodeficiency 18
Health Risk
RS528492194
Conflicting classifications of pathogenicity
Immunodeficiency 18, Immunodeficiency 18
Health Risk
RS773135734
Conflicting classifications of pathogenicity
Immunodeficiency 18, Inborn genetic diseases, Immunodeficiency 18
Health Risk
RS201543770
Likely pathogenic
Immunodeficiency 18, Immunodeficiency 18, Immunodeficiency 18
Health Risk
RS2496836773
Likely pathogenic
Immunodeficiency 18, Immunodeficiency 18
Health Risk
RS2496837183
Likely pathogenic
Immunodeficiency 18, Immunodeficiency 18
Health Risk
All Variants (24)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS140639753 | Health Risk | Conflicting classifications of pathogenicity | Immunodeficiency 18, Lung cancer, Immunodeficiency 18 |
| RS143015515 | Health Risk | Conflicting classifications of pathogenicity | Immunodeficiency 18, Immunodeficiency 18 |
| RS143630318 | Health Risk | Conflicting classifications of pathogenicity | Immunodeficiency 18, Immunodeficiency 18 |
| RS143868906 | Health Risk | Conflicting classifications of pathogenicity | Immunodeficiency 18, Immunodeficiency 18 |
| RS148647954 | Health Risk | Conflicting classifications of pathogenicity | Immunodeficiency 18, Immunodeficiency 18 |
| RS202200315 | Health Risk | Conflicting classifications of pathogenicity | Immunodeficiency 18, Immunodeficiency 18 |
| RS374456909 | Health Risk | Conflicting classifications of pathogenicity | Immunodeficiency 18, Immunodeficiency 18 |
| RS528492194 | Health Risk | Conflicting classifications of pathogenicity | Immunodeficiency 18, Immunodeficiency 18 |
| RS773135734 | Health Risk | Conflicting classifications of pathogenicity | Immunodeficiency 18, Inborn genetic diseases, Immunodeficiency 18 |
| RS201543770 | Health Risk | Likely pathogenic | Immunodeficiency 18, Immunodeficiency 18, Immunodeficiency 18 |
| RS2496836773 | Health Risk | Likely pathogenic | Immunodeficiency 18, Immunodeficiency 18 |
| RS2496837183 | Health Risk | Likely pathogenic | Immunodeficiency 18, Immunodeficiency 18 |
| RS483352928 | Health Risk | Likely pathogenic | Immunodeficiency 18, Immunodeficiency 18 |
| RS908640922 | Health Risk | Likely pathogenic | Immunodeficiency 18, Immunodeficiency 18 |
| RS1213870519 | Health Risk | Pathogenic | Immunodeficiency 18, Immunodeficiency 18 |
| RS121918659 | Health Risk | Pathogenic | Immunodeficiency 18, Immunodeficiency 18 |
| RS1249197356 | Health Risk | Pathogenic | Immunodeficiency 18, Immunodeficiency 18 |
| RS147435007 | Health Risk | Pathogenic | Immunodeficiency 18, Immunodeficiency 18, Immunodeficiency 18 |
| RS1948142385 | Health Risk | Pathogenic | Immunodeficiency 18, Immunodeficiency 18 |
| RS201840561 | Health Risk | Pathogenic | Immunodeficiency 18, Immunodeficiency 18 |
| RS2496837031 | Health Risk | Pathogenic | Immunodeficiency 18, Immunodeficiency 18 |
| RS483352929 | Health Risk | Pathogenic | Immunodeficiency 18, severe combined immunodeficiency variant, Immunodeficiency 18 |
| RS1419311230 | Health Risk | Pathogenic/Likely pathogenic | Severe combined immunodeficiency disease, Immunodeficiency 18, Severe combined immunodeficiency disease |
| RS2496834883 | Health Risk | Pathogenic/Likely pathogenic | Immunodeficiency 18, Immunodeficiency 18 |