Entrez gene ID | | 915 |
Official gene symbol | | CD3D |
Full name | | CD3d molecule, delta (CD3-TCR complex) |
Aliases | | ,CD3-DELTA,T3D, |
Gene summary | | 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] |
Location | | Chromosome: 11 Locus: 11q23 |
Gene position | | 118213459 - 118209789 Map Viewer |
Gene orientation | | minus |
Gene size | | 3671 bp |
Gene sequence |
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OMIM ID | | 186790 |
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