Aliases for CD247 Gene
External Ids for CD247 Gene
Previous HGNC Symbols for CD247 Gene
Previous GeneCards Identifiers for CD247 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]
GeneCards Summary for CD247 Gene
CD247 (CD247 Molecule) is a Protein Coding gene. Diseases associated with CD247 include Immunodeficiency 25 and T-B+ Severe Combined Immunodeficiency Due To Cd3delta/Cd3epsilon/Cd3zeta. Among its related pathways are CTLA4 Signaling and Regulation of actin dynamics for phagocytic cup formation. GO annotations related to this gene include protein homodimerization activity and transmembrane signaling receptor activity.
UniProtKB/Swiss-Prot for CD247 Gene
Probable role in assembly and expression of the TCR complex as well as signal transduction upon antigen triggering.