CD3D Chromosome 11
CD3 delta subunit of T-cell receptor complex
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What This Gene Does
The protein encoded by this gene is part of the T-cell receptor/CD3 complex (TCR/CD3 complex) and is involved in T-cell development and signal transduction. The encoded membrane protein represents the delta subunit of the CD3 complex, and along with four other CD3 subunits, binds either TCR alpha/beta or TCR gamma/delta to form the TCR/CD3 complex on the surface of T-cells. Defects in this gene are a cause of severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-positive (SCIDBNK). Two transcript variants encoding different isoforms have been found for this gene. Other variants may also exist, but the full-length natures of their transcripts has yet to be defined. [provided by RefSeq, Feb 2009]
Gene Info
Gene Group
CD molecules
Locus Type
gene with protein product
Location
11q23.3
Ensembl
ENSG00000167286
Associated Conditions (3)
Immunodeficiency 19
Severe combined immunodeficiency disease
CD3D-related disorder
Key Variants
RS146997233
Conflicting classifications of pathogenicity
Immunodeficiency 19, Immunodeficiency 19
Health Risk
RS201810356
Conflicting classifications of pathogenicity
Immunodeficiency 19, Immunodeficiency 19
Health Risk
RS201994476
Conflicting classifications of pathogenicity
Immunodeficiency 19, Immunodeficiency 19
Health Risk
RS1262227887
Likely pathogenic
Immunodeficiency 19, Immunodeficiency 19
Health Risk
RS1341165259
Likely pathogenic
Immunodeficiency 19, Immunodeficiency 19
Health Risk
RS2134058885
Likely pathogenic
Immunodeficiency 19, Immunodeficiency 19
Health Risk
RS2496870461
Likely pathogenic
Immunodeficiency 19, Immunodeficiency 19
Health Risk
RS111033580
Pathogenic
Immunodeficiency 19, Immunodeficiency 19
Health Risk
RS111033581
Pathogenic
Immunodeficiency 19, Immunodeficiency 19
Health Risk
RS1172098673
Pathogenic
Immunodeficiency 19, Immunodeficiency 19
Health Risk
RS1180673589
Pathogenic
Immunodeficiency 19, Immunodeficiency 19
Health Risk
RS1591278347
Pathogenic
Immunodeficiency 19, Immunodeficiency 19
Health Risk
All Variants (19)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS146997233 | Health Risk | Conflicting classifications of pathogenicity | Immunodeficiency 19, Immunodeficiency 19 |
| RS201810356 | Health Risk | Conflicting classifications of pathogenicity | Immunodeficiency 19, Immunodeficiency 19 |
| RS201994476 | Health Risk | Conflicting classifications of pathogenicity | Immunodeficiency 19, Immunodeficiency 19 |
| RS1262227887 | Health Risk | Likely pathogenic | Immunodeficiency 19, Immunodeficiency 19 |
| RS1341165259 | Health Risk | Likely pathogenic | Immunodeficiency 19, Immunodeficiency 19 |
| RS2134058885 | Health Risk | Likely pathogenic | Immunodeficiency 19, Immunodeficiency 19 |
| RS2496870461 | Health Risk | Likely pathogenic | Immunodeficiency 19, Immunodeficiency 19 |
| RS111033580 | Health Risk | Pathogenic | Immunodeficiency 19, Immunodeficiency 19 |
| RS111033581 | Health Risk | Pathogenic | Immunodeficiency 19, Immunodeficiency 19 |
| RS1172098673 | Health Risk | Pathogenic | Immunodeficiency 19, Immunodeficiency 19 |
| RS1180673589 | Health Risk | Pathogenic | Immunodeficiency 19, Immunodeficiency 19 |
| RS1591278347 | Health Risk | Pathogenic | Immunodeficiency 19, Immunodeficiency 19 |
| RS2496872144 | Health Risk | Pathogenic | Immunodeficiency 19, Immunodeficiency 19 |
| RS2496872976 | Health Risk | Pathogenic | Severe combined immunodeficiency disease, Severe combined immunodeficiency disease |
| RS2496878023 | Health Risk | Pathogenic | Immunodeficiency 19, Immunodeficiency 19 |
| RS2496878055 | Health Risk | Pathogenic | Immunodeficiency 19, Immunodeficiency 19 |
| RS767884151 | Health Risk | Pathogenic | Immunodeficiency 19, Immunodeficiency 19 |
| RS1311932817 | Health Risk | Pathogenic/Likely pathogenic | Immunodeficiency 19, Immunodeficiency 19 |
| RS730880296 | Health Risk | Pathogenic/Likely pathogenic | Immunodeficiency 19, CD3D-related disorder, Immunodeficiency 19 |