ZAP70 Chromosome 2
Zeta chain of T cell receptor associated protein kinase 70
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What This Gene Does
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]
Gene Info
Gene Group
"SH2 domain containing|Syk family tyrosine kinases"
Locus Type
gene with protein product
Location
2q11.2
Ensembl
ENSG00000115085
Associated Conditions (10)
Combined immunodeficiency due to ZAP70 deficiency
Severe combined immunodeficiency disease
ZAP70-related disorder
Autoimmune disease
multisystem
infantile-onset
2
Inborn genetic diseases
Combined immunodeficiency
Melanoma
Key Variants
RS1017182331
Conflicting classifications of pathogenicity
Health Risk
RS1289751768
Conflicting classifications of pathogenicity
Combined immunodeficiency due to ZAP70 deficiency, Combined immunodeficiency due to ZAP70 deficiency
Health Risk
RS1340607126
Conflicting classifications of pathogenicity
Combined immunodeficiency due to ZAP70 deficiency, Severe combined immunodeficiency disease, Combined immunodeficiency due to ZAP70 deficiency
Health Risk
RS138447206
Conflicting classifications of pathogenicity
Combined immunodeficiency due to ZAP70 deficiency, ZAP70-related disorder, Combined immunodeficiency due to ZAP70 deficiency
Health Risk
RS142702703
Conflicting classifications of pathogenicity
Combined immunodeficiency due to ZAP70 deficiency, Combined immunodeficiency due to ZAP70 deficiency
Health Risk
RS145218891
Conflicting classifications of pathogenicity
Autoimmune disease, multisystem, infantile-onset
Health Risk
RS149765220
Conflicting classifications of pathogenicity
Inborn genetic diseases, Combined immunodeficiency due to ZAP70 deficiency, Inborn genetic diseases
Health Risk
RS150096962
Conflicting classifications of pathogenicity
Combined immunodeficiency due to ZAP70 deficiency, Combined immunodeficiency due to ZAP70 deficiency
Health Risk
RS189807102
Conflicting classifications of pathogenicity
Combined immunodeficiency due to ZAP70 deficiency, Combined immunodeficiency due to ZAP70 deficiency
Health Risk
RS199840952
Conflicting classifications of pathogenicity
Combined immunodeficiency, Autoimmune disease, multisystem
Health Risk
RS199874724
Conflicting classifications of pathogenicity
Combined immunodeficiency due to ZAP70 deficiency, Combined immunodeficiency due to ZAP70 deficiency
Health Risk
RS199943332
Conflicting classifications of pathogenicity
Combined immunodeficiency due to ZAP70 deficiency, Combined immunodeficiency due to ZAP70 deficiency
Health Risk
All Variants (47)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1017182331 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1289751768 | Health Risk | Conflicting classifications of pathogenicity | Combined immunodeficiency due to ZAP70 deficiency, Combined immunodeficiency due to ZAP70 deficiency |
| RS1340607126 | Health Risk | Conflicting classifications of pathogenicity | Combined immunodeficiency due to ZAP70 deficiency, Severe combined immunodeficiency disease, Combined immunodeficiency due to ZAP70 deficiency |
| RS138447206 | Health Risk | Conflicting classifications of pathogenicity | Combined immunodeficiency due to ZAP70 deficiency, ZAP70-related disorder, Combined immunodeficiency due to ZAP70 deficiency |
| RS142702703 | Health Risk | Conflicting classifications of pathogenicity | Combined immunodeficiency due to ZAP70 deficiency, Combined immunodeficiency due to ZAP70 deficiency |
| RS145218891 | Health Risk | Conflicting classifications of pathogenicity | Autoimmune disease, multisystem, infantile-onset |
| RS149765220 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Combined immunodeficiency due to ZAP70 deficiency, Inborn genetic diseases |
| RS150096962 | Health Risk | Conflicting classifications of pathogenicity | Combined immunodeficiency due to ZAP70 deficiency, Combined immunodeficiency due to ZAP70 deficiency |
| RS189807102 | Health Risk | Conflicting classifications of pathogenicity | Combined immunodeficiency due to ZAP70 deficiency, Combined immunodeficiency due to ZAP70 deficiency |
| RS199840952 | Health Risk | Conflicting classifications of pathogenicity | Combined immunodeficiency, Autoimmune disease, multisystem |
| RS199874724 | Health Risk | Conflicting classifications of pathogenicity | Combined immunodeficiency due to ZAP70 deficiency, Combined immunodeficiency due to ZAP70 deficiency |
| RS199943332 | Health Risk | Conflicting classifications of pathogenicity | Combined immunodeficiency due to ZAP70 deficiency, Combined immunodeficiency due to ZAP70 deficiency |
| RS200538234 | Health Risk | Conflicting classifications of pathogenicity | Combined immunodeficiency due to ZAP70 deficiency, ZAP70-related disorder, Combined immunodeficiency due to ZAP70 deficiency |
| RS200797733 | Health Risk | Conflicting classifications of pathogenicity | Combined immunodeficiency due to ZAP70 deficiency, Combined immunodeficiency due to ZAP70 deficiency |
| RS201487332 | Health Risk | Conflicting classifications of pathogenicity | Combined immunodeficiency due to ZAP70 deficiency, ZAP70-related disorder, Combined immunodeficiency due to ZAP70 deficiency |
| RS201605654 | Health Risk | Conflicting classifications of pathogenicity | Combined immunodeficiency due to ZAP70 deficiency, Combined immunodeficiency due to ZAP70 deficiency |
| RS201712942 | Health Risk | Conflicting classifications of pathogenicity | Combined immunodeficiency due to ZAP70 deficiency, Combined immunodeficiency due to ZAP70 deficiency |
| RS55933862 | Health Risk | Conflicting classifications of pathogenicity | Combined immunodeficiency due to ZAP70 deficiency, Autoimmune disease, multisystem |
| RS55997284 | Health Risk | Conflicting classifications of pathogenicity | Combined immunodeficiency due to ZAP70 deficiency, Combined immunodeficiency due to ZAP70 deficiency |
| RS56249179 | Health Risk | Conflicting classifications of pathogenicity | Combined immunodeficiency due to ZAP70 deficiency, Melanoma, Combined immunodeficiency due to ZAP70 deficiency |
| RS754793583 | Health Risk | Conflicting classifications of pathogenicity | Combined immunodeficiency due to ZAP70 deficiency, Combined immunodeficiency due to ZAP70 deficiency |
| RS1064793298 | Health Risk | Likely pathogenic | — |
| RS113994174 | Health Risk | Likely pathogenic | Combined immunodeficiency due to ZAP70 deficiency, Severe combined immunodeficiency disease, Autoimmune disease |
| RS1677695565 | Health Risk | Likely pathogenic | Combined immunodeficiency due to ZAP70 deficiency, Combined immunodeficiency due to ZAP70 deficiency |
| RS200126170 | Health Risk | Likely pathogenic | — |
| RS201207626 | Health Risk | Likely pathogenic | Combined immunodeficiency due to ZAP70 deficiency, Combined immunodeficiency due to ZAP70 deficiency |
| RS2104693246 | Health Risk | Likely pathogenic | — |
| RS2482756016 | Health Risk | Likely pathogenic | Combined immunodeficiency due to ZAP70 deficiency, Combined immunodeficiency due to ZAP70 deficiency |
| RS104893674 | Health Risk | Pathogenic | Combined immunodeficiency due to ZAP70 deficiency, Combined immunodeficiency due to ZAP70 deficiency |
| RS1064793340 | Health Risk | Pathogenic | — |
| RS1263533157 | Health Risk | Pathogenic | Combined immunodeficiency due to ZAP70 deficiency, Combined immunodeficiency due to ZAP70 deficiency |
| RS1559328006 | Health Risk | Pathogenic | Combined immunodeficiency due to ZAP70 deficiency, Combined immunodeficiency due to ZAP70 deficiency |
| RS1573262398 | Health Risk | Pathogenic | Combined immunodeficiency, Combined immunodeficiency |
| RS1677953034 | Health Risk | Pathogenic | Combined immunodeficiency due to ZAP70 deficiency, Combined immunodeficiency due to ZAP70 deficiency |
| RS200679671 | Health Risk | Pathogenic | Combined immunodeficiency due to ZAP70 deficiency, Combined immunodeficiency due to ZAP70 deficiency |
| RS2104688189 | Health Risk | Pathogenic | Combined immunodeficiency due to ZAP70 deficiency, Combined immunodeficiency due to ZAP70 deficiency |
| RS2482690458 | Health Risk | Pathogenic | Combined immunodeficiency due to ZAP70 deficiency, Combined immunodeficiency due to ZAP70 deficiency |
| RS2482741381 | Health Risk | Pathogenic | Combined immunodeficiency due to ZAP70 deficiency, Combined immunodeficiency due to ZAP70 deficiency |
| RS2482766787 | Health Risk | Pathogenic | Combined immunodeficiency due to ZAP70 deficiency, Combined immunodeficiency due to ZAP70 deficiency |
| RS730880318 | Health Risk | Pathogenic | Combined immunodeficiency due to ZAP70 deficiency, ZAP70-related disorder, Severe combined immunodeficiency disease |
| RS730880319 | Health Risk | Pathogenic | Combined immunodeficiency due to ZAP70 deficiency, Combined immunodeficiency due to ZAP70 deficiency |
| RS750794851 | Health Risk | Pathogenic | Combined immunodeficiency due to ZAP70 deficiency, Combined immunodeficiency due to ZAP70 deficiency |
| RS754420169 | Health Risk | Pathogenic | Combined immunodeficiency due to ZAP70 deficiency, Combined immunodeficiency due to ZAP70 deficiency |
| RS770985198 | Health Risk | Pathogenic | Combined immunodeficiency due to ZAP70 deficiency, Combined immunodeficiency due to ZAP70 deficiency |
| RS869025224 | Health Risk | Pathogenic | Combined immunodeficiency, Autoimmune disease, multisystem |
| RS897972295 | Health Risk | Pathogenic | — |
| RS1573261820 | Health Risk | Pathogenic/Likely pathogenic | Severe combined immunodeficiency disease, Combined immunodeficiency due to ZAP70 deficiency, Severe combined immunodeficiency disease |