Basic Information

Symbol
ZAP70
RNA class
mRNA
Alias
Zeta Chain Of T Cell Receptor Associated Protein Kinase 70 SRK Tyrosine-Protein Kinase ZAP-70 ZAP-70 STD 70 KDa Zeta-Chain Associated Protein Syk-Related Tyrosine Kinase EC 2.7.10.2 Zeta Chain Of T Cell Receptor Associated Protein Kinase 70kDa Zeta-Chain (TCR) Associated Protein Kinase 70kDa Zeta-Chain Associated Protein Kinase, 70kD 70 KDa Zeta-Associated Protein EC 2.7.10 ADMIO2 IMD48 STCD TZK
Location (GRCh38)
2:97713576-97744327
UCSC Genome Browser Search in Marker Scope
Forensic tag(s)
Cause of death analysis Individual identification
External database
HGNC NCBI Ensembl OMIM UniProt GTEx

MANE select

Transcript ID
NM_001079.4
Sequence length
2421.0 nt
GC content
0.6349

Transcripts

ID Sequence Length GC content
NM_001079.4 NCBI
AGUUUCAGACAAGCCUGCUUGCCGGAGCUCAGCAGACACCAGGCCUUCC… 2421 nt 0.6349
NM_001378594.1 NCBI
AAACCGGCUUUGUAAGCCCCGAUUCCUCACCCAGAACCGGCUCUCCAUU… 2356 nt 0.6329
NM_207519.2 NCBI
CUGCUGCUCCCACACUCCCAGCCCACCCAUCCACGUUGACUCAUGUGAG… 2553 nt 0.6114
Summary

This gene encodes an enzyme belonging to the protein tyrosine kinase family, and it plays a role in T-cell development and lymphocyte activation. This enzyme, which is phosphorylated on tyrosine residues upon T-cell antigen receptor (TCR) stimulation, functions in the initial step of TCR-mediated signal transduction in combination with the Src family kinases, Lck and Fyn. This enzyme is also essential for thymocyte development. Mutations in this gene cause selective T-cell defect, a severe combined immunodeficiency disease characterized by a selective absence of CD8-positive T-cells. Two transcript variants that encode different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Forensic Context

A study in mice demonstrated that the ZAP70 protein was up-regulated in lung tissue following thoracic irradiation, as validated by immunohistochemistry, indicating its involvement in Th1 and Th2 differentiation pathways during radiation-induced lung injury [Li et al. DOI:10.2147/JIR.S322736]. In human monozygotic twins, differential methylation of the ZAP70 gene at a CpG site was associated with lower leisure-time physical activity in heavier co-twins [Kibble et al. DOI:10.1098/rsos.200872].