Gene
ZAP70
zeta chain of T cell receptor associated protein kinase 70
- HGNC 12858(opens in a new tab)
- Ensembl gene ENSG00000115085(opens in a new tab)
- NCBI Gene 7535(opens in a new tab)
Summary
- Cytogenetic location
- 2q11.2
- Coordinates
- Chromosome 2: 97,713,576–97,739,860 (GRCh38)
- Exons
- 14 exons across 26.3 kb
- Protein
- 619 amino acids
- Also known as
- ZAP-70, STD
- Previous symbols
- SRK
- MANE Select transcript
- ENST00000264972.10NM_001079.4
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Autoimmune Disease
A disorder resulting from loss of function or tissue destruction of an organ or multiple organs, arising from humoral or cellular immune responses of the individual to their own tissue constituents. It may be systemic (e.g., systemic lupus erythematosus), or organ specific, (e.g., thyroiditis).
- 1 GenCC submitter rates it definitive or strong
Broader groupings
Other Inborn Errors of Immunity
- Immunodeficiency Disease
One of 170 genes linked to it
Disease in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral.
- ClinGen rates the link definitive
- 3 GenCC submitters rate it definitive or strong
What knowing changes
HSCT for SCID and severe PIDs; immunoglobulin replacement (IVIG/SCIG) for antibody deficiencies; leniolisib (Joenja, FDA 2023) for APDS; gene therapy for ADA-SCID; abatacept for CTLA4/LRBA deficiency; prophylactic antibiotics; G-CSF for CGD
How ZAP70 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 2.4 kb of the gene's 26.3 kb; 1,860 of those bases code for the protein.
How a genome test reads ZAP70
32
positions in ZAP70 where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 26.3 kb of ZAP70, introns included, not only the 2.4 kb of exons.
Traits linked to ZAP70
The Human Phenotype Ontology lists these as features of the rare conditions ZAP70 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the immune system
- Absent circulating isohemagglutinin
- Complete or near-complete absence of specific antibody response to tetanus vaccine
- Decreased circulating specific pneumococcal antibody concentration
- Recurrent Candida infection
- Recurrent respiratory infections
- Recurrent bacterial infections
- Recurrent opportunistic infections
- Recurrent viral infections
Abnormality of blood and blood-forming tissues
- Absence of CD8+ T cells
- Decreased CD4+ T cell ZAP-70 protein expression
- Increased CD4:CD8 ratio
- Decreased total CD8+ T cell proportion
- High blood eosinophil count
- High lymphocyte count
- Autoimmune hemolytic anemia
- Autoimmune thrombocytopenia
Show 2 more traits
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). ZAP70 gene: zeta chain of T cell receptor associated protein kinase 70. Retrieved 17 October 2026, from https://dantelabs.com/genes/zap70
Dante Labs. ZAP70 gene: zeta chain of T cell receptor associated protein kinase 70 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/zap70
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