CD3 Antigen, Delta Subunit

Alternative Names

  • CD3D
  • CD3-Delta
  • T-Cell Antigen Receptor Complex, Delta Subunit of T3
  • T3D
  • OKT3, Delta Chain

Associated Diseases

Immunodeficiency 19
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OMIM Number

186790

NCBI Gene ID

915

Uniprot ID

P04234

Length

3,752 bases

No. of Exons

5

No. of isoforms

2

Protein Name

T-cell surface glycoprotein CD3 delta chain

Molecular Mass

18930 Da

Amino Acid Count

171

Genomic Location

chr11:118,338,953-118,342,704

Gene Map Locus
11q23.3

Description

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. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinical SignificanceCondition(s)HGVS ExpressionsdbSNPClinvar
NM_000732.4:c.128G>AUnited Arab EmiratesNC_000011.10:g.118340521C>TPathogenicImmunodeficiency 19NG_009891.1:g.7224G>A; NM_000732.4:c.128G>A; NP_000723.1:p.Trp43Ter1591278347643120
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