CD3G Chromosome 11
CD3 gamma subunit of T-cell receptor complex
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What This Gene Does
The protein encoded by this gene is the CD3-gamma polypeptide, which together with CD3-epsilon, -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. Defects in this gene are associated with T cell immunodeficiency. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
CD molecules
Locus Type
gene with protein product
Location
11q23.3
Ensembl
ENSG00000160654
Associated Conditions (3)
Combined immunodeficiency due to CD3gamma deficiency
CD3G-related disorder
Severe combined immunodeficiency disease
Key Variants
RS115851096
Conflicting classifications of pathogenicity
Combined immunodeficiency due to CD3gamma deficiency, Combined immunodeficiency due to CD3gamma deficiency
Health Risk
RS142915569
Conflicting classifications of pathogenicity
Combined immunodeficiency due to CD3gamma deficiency, CD3G-related disorder, Combined immunodeficiency due to CD3gamma deficiency
Health Risk
RS143990986
Conflicting classifications of pathogenicity
Combined immunodeficiency due to CD3gamma deficiency, Combined immunodeficiency due to CD3gamma deficiency
Health Risk
RS146393315
Conflicting classifications of pathogenicity
Combined immunodeficiency due to CD3gamma deficiency, CD3G-related disorder, Combined immunodeficiency due to CD3gamma deficiency
Health Risk
RS148191859
Conflicting classifications of pathogenicity
Combined immunodeficiency due to CD3gamma deficiency, Combined immunodeficiency due to CD3gamma deficiency
Health Risk
RS200028255
Conflicting classifications of pathogenicity
Combined immunodeficiency due to CD3gamma deficiency, Combined immunodeficiency due to CD3gamma deficiency
Health Risk
RS200093444
Conflicting classifications of pathogenicity
Combined immunodeficiency due to CD3gamma deficiency, Combined immunodeficiency due to CD3gamma deficiency
Health Risk
RS201296802
Conflicting classifications of pathogenicity
Combined immunodeficiency due to CD3gamma deficiency, Combined immunodeficiency due to CD3gamma deficiency
Health Risk
RS377262966
Conflicting classifications of pathogenicity
Combined immunodeficiency due to CD3gamma deficiency, CD3G-related disorder, Combined immunodeficiency due to CD3gamma deficiency
Health Risk
RS755334490
Conflicting classifications of pathogenicity
Combined immunodeficiency due to CD3gamma deficiency, Combined immunodeficiency due to CD3gamma deficiency
Health Risk
RS1440888766
Likely pathogenic
Combined immunodeficiency due to CD3gamma deficiency, Combined immunodeficiency due to CD3gamma deficiency
Health Risk
RS1948391148
Likely pathogenic
Severe combined immunodeficiency disease, Severe combined immunodeficiency disease
Health Risk
All Variants (24)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS115851096 | Health Risk | Conflicting classifications of pathogenicity | Combined immunodeficiency due to CD3gamma deficiency, Combined immunodeficiency due to CD3gamma deficiency |
| RS142915569 | Health Risk | Conflicting classifications of pathogenicity | Combined immunodeficiency due to CD3gamma deficiency, CD3G-related disorder, Combined immunodeficiency due to CD3gamma deficiency |
| RS143990986 | Health Risk | Conflicting classifications of pathogenicity | Combined immunodeficiency due to CD3gamma deficiency, Combined immunodeficiency due to CD3gamma deficiency |
| RS146393315 | Health Risk | Conflicting classifications of pathogenicity | Combined immunodeficiency due to CD3gamma deficiency, CD3G-related disorder, Combined immunodeficiency due to CD3gamma deficiency |
| RS148191859 | Health Risk | Conflicting classifications of pathogenicity | Combined immunodeficiency due to CD3gamma deficiency, Combined immunodeficiency due to CD3gamma deficiency |
| RS200028255 | Health Risk | Conflicting classifications of pathogenicity | Combined immunodeficiency due to CD3gamma deficiency, Combined immunodeficiency due to CD3gamma deficiency |
| RS200093444 | Health Risk | Conflicting classifications of pathogenicity | Combined immunodeficiency due to CD3gamma deficiency, Combined immunodeficiency due to CD3gamma deficiency |
| RS201296802 | Health Risk | Conflicting classifications of pathogenicity | Combined immunodeficiency due to CD3gamma deficiency, Combined immunodeficiency due to CD3gamma deficiency |
| RS377262966 | Health Risk | Conflicting classifications of pathogenicity | Combined immunodeficiency due to CD3gamma deficiency, CD3G-related disorder, Combined immunodeficiency due to CD3gamma deficiency |
| RS755334490 | Health Risk | Conflicting classifications of pathogenicity | Combined immunodeficiency due to CD3gamma deficiency, Combined immunodeficiency due to CD3gamma deficiency |
| RS1440888766 | Health Risk | Likely pathogenic | Combined immunodeficiency due to CD3gamma deficiency, Combined immunodeficiency due to CD3gamma deficiency |
| RS1948391148 | Health Risk | Likely pathogenic | Severe combined immunodeficiency disease, Severe combined immunodeficiency disease |
| RS1948418139 | Health Risk | Likely pathogenic | Severe combined immunodeficiency disease, Severe combined immunodeficiency disease |
| RS1948335884 | Health Risk | Pathogenic | Combined immunodeficiency due to CD3gamma deficiency, Combined immunodeficiency due to CD3gamma deficiency |
| RS1948388503 | Health Risk | Pathogenic | Combined immunodeficiency due to CD3gamma deficiency, Combined immunodeficiency due to CD3gamma deficiency |
| RS199676861 | Health Risk | Pathogenic | Combined immunodeficiency due to CD3gamma deficiency, Combined immunodeficiency due to CD3gamma deficiency |
| RS201529449 | Health Risk | Pathogenic | Combined immunodeficiency due to CD3gamma deficiency, Combined immunodeficiency due to CD3gamma deficiency, Combined immunodeficiency due to CD3gamma deficiency |
| RS2134068305 | Health Risk | Pathogenic | Combined immunodeficiency due to CD3gamma deficiency, Combined immunodeficiency due to CD3gamma deficiency |
| RS2134069699 | Health Risk | Pathogenic | Combined immunodeficiency due to CD3gamma deficiency, Combined immunodeficiency due to CD3gamma deficiency |
| RS2496901413 | Health Risk | Pathogenic | Combined immunodeficiency due to CD3gamma deficiency, Combined immunodeficiency due to CD3gamma deficiency |
| RS2496908575 | Health Risk | Pathogenic | Combined immunodeficiency due to CD3gamma deficiency, Combined immunodeficiency due to CD3gamma deficiency |
| RS483352927 | Health Risk | Pathogenic | Combined immunodeficiency due to CD3gamma deficiency, Combined immunodeficiency due to CD3gamma deficiency |
| RS104894199 | Health Risk | Pathogenic/Likely pathogenic | Combined immunodeficiency due to CD3gamma deficiency, Combined immunodeficiency due to CD3gamma deficiency |
| RS570768621 | Health Risk | Pathogenic/Likely pathogenic | Combined immunodeficiency due to CD3gamma deficiency, Severe combined immunodeficiency disease, Combined immunodeficiency due to CD3gamma deficiency |