CD3E gene

CD3e molecule

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

The protein encoded by this gene is the CD3-epsilon polypeptide, which together with CD3-gamma, -delta and -zeta, and the T-cell receptor alpha/beta and gamma/delta heterodimers, forms the T-cell receptor-CD3 complex. This complex plays an important role in coupling antigen recognition to several intracellular signal-transduction pathways. The genes encoding the epsilon, gamma and delta polypeptides are located in the same cluster on chromosome 11. The epsilon polypeptide plays an essential role in T-cell development. Defects in this gene cause immunodeficiency. This gene has also been linked to a susceptibility to type I diabetes in women. [provided by RefSeq, Jul 2008]

From UniProt:

The CD3 complex mediates signal transduction, resulting in T-cell activation and proliferation. Required for normal immune responses (PubMed:15546002, PubMed:8490660).

From NCBI Gene:

  • Immunodeficiency 18

From UniProt:

Immunodeficiency 18 (IMD18): An autosomal recessive primary immunodeficiency characterized by onset in infancy or early childhood of recurrent infections. The severity is variable, encompassing both a mild immunodeficiency and severe combined immunodeficiency (SCID), resulting in early death without bone marrow transplantation in some patients. Immunologic work-up of the IMD18 SCID patients shows a T cell-negative, B cell-positive, natural killer (NK) cell-positive phenotype, whereas T-cell development is not impaired in the mild form of IMD18. [MIM:615615]

Cytogenetic Location: 11q23.3, which is the long (q) arm of chromosome 11 at position 23.3

Molecular Location: base pairs 118,304,580 to 118,316,175 on chromosome 11 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 11q23.3, which is the long (q) arm of chromosome 11 at position 23.3
  • IMD18
  • T3E
  • TCRE