ZAP70 zeta chain of T cell receptor associated protein kinase 70
Gene ID: 7535, updated on 11-Apr-2024Gene type: protein coding
Also known as: SRK; STD; TZK; STCD; IMD48; ADMIO2; ZAP-70
- See all available tests in GTR for this gene
- Go to complete Gene record for ZAP70
- Go to Variation Viewer for ZAP70 variants
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]
Associated conditions
Genomic context
- Location:
- 2q11.2
- Sequence:
- Chromosome: 2; NC_000002.12 (97713576..97756364)
- Total number of exons:
- 17
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for ZAP70 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
- ZAP70 database
- ZAP70base: Mutation registry for autosomal recessive ZAP70 immunodeficiency
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