Gene: ZAP70

Alternate names for this Gene: ADMIO2|IMD48|SRK|STCD|STD|TZK|ZAP-70

Gene 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.

Gene is located in Chromosome: 2

Location in Chromosome : 2q11.2

Description of this Gene: zeta chain of T cell receptor associated protein kinase 70

Type of Gene: protein-coding

rs199840952 in ZAP70 gene and AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2 PMID 26783323 2016 A novel human autoimmune syndrome caused by combined hypomorphic and activating mutations in ZAP-70.

rs6714710 in ZAP70 gene and Alzheimer's Disease PMID 26993346 2016 Genetic risk factors for the posterior cortical atrophy variant of Alzheimer's disease.

rs4851462 in ZAP70 gene and Diastolic blood pressure PMID 30224653 2018 Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits.

rs11687510 in ZAP70 gene and Leukemia, Myelocytic, Acute PMID 27903959 2017 Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

rs6714710 in ZAP70 gene and Posterior cortical atrophy syndrome PMID 26993346 2016 Genetic risk factors for the posterior cortical atrophy variant of Alzheimer's disease.

rs104893674 in ZAP70 gene and ZAP70 deficiency PMID 18509675 2009 Clinical heterogeneity can hamper the diagnosis of patients with ZAP70 deficiency.

PMID 8124727 1994 Defective T cell receptor signaling and CD8+ thymic selection in humans lacking zap-70 kinase.

PMID 8202713 1994 ZAP-70 deficiency in an autosomal recessive form of severe combined immunodeficiency.

PMID 11123350 2001 Distinct T cell developmental consequences in humans and mice expressing identical mutations in the DLAARN motif of ZAP-70.

PMID 11412303 2001 Specific immunoglobulin E responses in ZAP-70-deficient patients are mediated by Syk-dependent T-cell receptor signalling.

rs11683207 in ZAP70 gene and mathematical ability PMID 30038396 2018 Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.