CD247 Chromosome 1
CD247 molecule
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What This Gene Does
The protein encoded by this gene is T-cell receptor zeta, which together with T-cell receptor alpha/beta and gamma/delta heterodimers, and with CD3-gamma, -delta and -epsilon, forms the T-cell receptor-CD3 complex. The zeta chain plays an important role in coupling antigen recognition to several intracellular signal-transduction pathways. Low expression of the antigen results in impaired immune response. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
CD molecules
Locus Type
gene with protein product
Location
1q24.2
Ensembl
ENSG00000198821
Associated Conditions (6)
Immunodeficiency 25
CD247-related disorder
Severe combined immunodeficiency disease
Cervical cancer
Adrenocortical carcinoma
hereditary
Key Variants
RS201494226
Conflicting classifications of pathogenicity
Immunodeficiency 25, Immunodeficiency 25
Health Risk
RS1553238837
Pathogenic
Immunodeficiency 25, Immunodeficiency 25
Health Risk
RS193922740
Pathogenic
Immunodeficiency 25, Immunodeficiency 25
Health Risk
RS193922741
Pathogenic
Immunodeficiency 25, Immunodeficiency 25
Health Risk
RS672601318
Pathogenic
Immunodeficiency 25, Immunodeficiency 25
Health Risk
RS74315290
Pathogenic
Immunodeficiency 25, Immunodeficiency 25
Health Risk
RS779397562
Pathogenic
Immunodeficiency 25, Immunodeficiency 25
Health Risk
RS55729925
Pathogenic/Likely pathogenic
Immunodeficiency 25, CD247-related disorder, Severe combined immunodeficiency disease
Health Risk
All Variants (8)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS201494226 | Health Risk | Conflicting classifications of pathogenicity | Immunodeficiency 25, Immunodeficiency 25 |
| RS1553238837 | Health Risk | Pathogenic | Immunodeficiency 25, Immunodeficiency 25 |
| RS193922740 | Health Risk | Pathogenic | Immunodeficiency 25, Immunodeficiency 25 |
| RS193922741 | Health Risk | Pathogenic | Immunodeficiency 25, Immunodeficiency 25 |
| RS672601318 | Health Risk | Pathogenic | Immunodeficiency 25, Immunodeficiency 25 |
| RS74315290 | Health Risk | Pathogenic | Immunodeficiency 25, Immunodeficiency 25 |
| RS779397562 | Health Risk | Pathogenic | Immunodeficiency 25, Immunodeficiency 25 |
| RS55729925 | Health Risk | Pathogenic/Likely pathogenic | Immunodeficiency 25, CD247-related disorder, Severe combined immunodeficiency disease |