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:

Probable role in assembly and expression of the TCR complex as well as signal transduction upon antigen triggering.

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