CD247 gene

CD247 molecule

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

From NCBI Gene:

The protein encoded by this gene is T-cell receptor zeta, which together with T-cell receptor alpha/beta and gamma/delta heterodimers, and with CD3-gamma, -delta and -epsilon, forms the T-cell receptor-CD3 complex. The zeta chain plays an important role in coupling antigen recognition to several intracellular signal-transduction pathways. Low expression of the antigen results in impaired immune response. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

From UniProt:

Part of the TCR-CD3 complex present on T-lymphocyte cell surface that plays an essential role in adaptive immune response. When antigen presenting cells (APCs) activate T-cell receptor (TCR), TCR-mediated signals are transmitted across the cell membrane by the CD3 chains CD3D, CD3E, CD3G and CD3Z. All CD3 chains contain immunoreceptor tyrosine-based activation motifs (ITAMs) in their cytoplasmic domain. Upon TCR engagement, these motifs become phosphorylated by Src family protein tyrosine kinases LCK and FYN, resulting in the activation of downstream signaling pathways (PubMed:2470098, PubMed:7509083). CD3Z ITAMs phosphorylation creates multiple docking sites for the protein kinase ZAP70 leading to ZAP70 phosphorylation and its conversion into a catalytically active enzyme (PubMed:7509083). Plays an important role in intrathymic T-cell differentiation. Additionally, participates in the activity-dependent synapse formation of retinal ganglion cells (RGCs) in both the retina and dorsal lateral geniculate nucleus (dLGN).

From NCBI Gene:

  • Immunodeficiency due to defect in cd3-zeta

From UniProt:

Immunodeficiency 25 (IMD25): An immunological deficiency characterized by T-cells impaired immune response to alloantigens, tetanus toxoid and mitogens. [MIM:610163]

Cytogenetic Location: 1q24.2, which is the long (q) arm of chromosome 1 at position 24.2

Molecular Location: base pairs 167,430,640 to 167,518,610 on chromosome 1 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 1q24.2, which is the long (q) arm of chromosome 1 at position 24.2
  • CD3-ZETA
  • CD3H
  • CD3Q
  • CD3Z
  • IMD25
  • T3Z
  • TCRZ