Gene Information
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Gene Name
|
CD3D |
|
Gene ID
|
915
|
|
Gene Full Name
|
CD3 delta subunit of T-cell receptor complex |
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Gene Alias
|
CD3-DELTA|CD3DELTA|IMD19|T3D |
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Transcripts
|
ENSG00000167286
|
|
Virus
|
TBEV |
|
Gene Type
|
protein-coding |
|
HPA Location Info
|
Endoplasmic reticulum, Vesicles;
|
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Membrane Info
|
CD markers, Disease related genes, FDA approved drug targets, Human disease related genes, Predicted intracellular proteins, Predicted membrane proteins |
|
Uniport_ID
|
P04234
|
|
HGNC ID
|
HGNC:1673
|
|
OMIM ID
|
186790 |
|
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, Feb 2009] |
Target gene [CD3D] related to virus gene/protein/region
Mutation Table: if previous studies reported that target gene was related to virus gene/region/protein, the information in this literature was listed in this section
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