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 Immune System and Infectious disease. 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.