JAK3 Chromosome 19
Janus kinase 3
Upload your DNA to see your personal genotypes for variants in JAK3.
What This Gene Does
The protein encoded by this gene is a member of the Janus kinase (JAK) family of tyrosine kinases involved in cytokine receptor-mediated intracellular signal transduction. It is predominantly expressed in immune cells and transduces a signal in response to its activation via tyrosine phosphorylation by interleukin receptors. Mutations in this gene are associated with autosomal SCID (severe combined immunodeficiency disease). [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Jak family tyrosine kinases
Locus Type
gene with protein product
Location
19p13.11
Ensembl
ENSG00000105639
Associated Conditions (18)
T-B+ severe combined immunodeficiency due to JAK3 deficiency
Severe combined immunodeficiency
autosomal recessive
T cell-negative
B cell-negative
NK cell-positive
Severe combined immunodeficiency disease
Inborn genetic diseases
JAK3-related disorder
Thyroid cancer
nonmedullary
1
Neoplasm
NK-cell enteropathy
NK cell-negative
due to adenosine deaminase deficiency
Adenoid cystic carcinoma
Hereditary spastic paraplegia
Key Variants
RS1057518544
Conflicting classifications of pathogenicity
T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency
Health Risk
RS1257606008
Conflicting classifications of pathogenicity
T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency
Health Risk
RS138593705
Conflicting classifications of pathogenicity
T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency
Health Risk
RS138645044
Conflicting classifications of pathogenicity
T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency
Health Risk
RS139738701
Conflicting classifications of pathogenicity
T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency
Health Risk
RS1424732031
Conflicting classifications of pathogenicity
Severe combined immunodeficiency, autosomal recessive, T cell-negative
Health Risk
RS143038064
Conflicting classifications of pathogenicity
T-B+ severe combined immunodeficiency due to JAK3 deficiency, Inborn genetic diseases, T-B+ severe combined immunodeficiency due to JAK3 deficiency
Health Risk
RS143936463
Conflicting classifications of pathogenicity
T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency
Health Risk
RS144195765
Conflicting classifications of pathogenicity
T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency
Health Risk
RS1448668382
Conflicting classifications of pathogenicity
T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency
Health Risk
RS145377049
Conflicting classifications of pathogenicity
T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency
Health Risk
RS146837396
Conflicting classifications of pathogenicity
T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency
Health Risk
All Variants (148)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2094216237 | Health Risk | Likely pathogenic | T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency |
| RS2094229647 | Health Risk | Likely pathogenic | Severe combined immunodeficiency disease, T-B+ severe combined immunodeficiency due to JAK3 deficiency, Severe combined immunodeficiency disease |
| RS2147674472 | Health Risk | Likely pathogenic | T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency |
| RS2147678827 | Health Risk | Likely pathogenic | T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency |
| RS2147681264 | Health Risk | Likely pathogenic | T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency |
| RS2147683334 | Health Risk | Likely pathogenic | Severe combined immunodeficiency disease, Severe combined immunodeficiency disease |
| RS2147686036 | Health Risk | Likely pathogenic | T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency |
| RS2514544299 | Health Risk | Likely pathogenic | T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency |
| RS2514546031 | Health Risk | Likely pathogenic | T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency |
| RS2514546551 | Health Risk | Likely pathogenic | T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency |
| RS2514549046 | Health Risk | Likely pathogenic | T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency |
| RS2514549413 | Health Risk | Likely pathogenic | — |
| RS2514559502 | Health Risk | Likely pathogenic | T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency |
| RS2514566418 | Health Risk | Likely pathogenic | T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency |
| RS2514570944 | Health Risk | Likely pathogenic | T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency |
| RS2514578433 | Health Risk | Likely pathogenic | T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency |
| RS2514579231 | Health Risk | Likely pathogenic | T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency |
| RS2514580420 | Health Risk | Likely pathogenic | T-B+ severe combined immunodeficiency due to JAK3 deficiency, Thyroid cancer, nonmedullary |
| RS2514582034 | Health Risk | Likely pathogenic | T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency |
| RS767428670 | Health Risk | Likely pathogenic | T-B+ severe combined immunodeficiency due to JAK3 deficiency, Severe combined immunodeficiency disease, T-B+ severe combined immunodeficiency due to JAK3 deficiency |
| RS773590163 | Health Risk | Likely pathogenic | — |
| RS936493226 | Health Risk | Likely pathogenic | T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency |
| RS1011307501 | Health Risk | Pathogenic | T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency |
| RS1187805545 | Health Risk | Pathogenic | T-B+ severe combined immunodeficiency due to JAK3 deficiency, Severe combined immunodeficiency disease, T-B+ severe combined immunodeficiency due to JAK3 deficiency |
| RS1198251679 | Health Risk | Pathogenic | T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency |
| RS1232129873 | Health Risk | Pathogenic | T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency |
| RS1251299279 | Health Risk | Pathogenic | T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency |
| RS1305851796 | Health Risk | Pathogenic | T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency |
| RS1315983507 | Health Risk | Pathogenic | T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency |
| RS1333361833 | Health Risk | Pathogenic | T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency |
| RS1359327847 | Health Risk | Pathogenic | T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency |
| RS137852624 | Health Risk | Pathogenic | T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency |
| RS137852625 | Health Risk | Pathogenic | T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency |
| RS137852626 | Health Risk | Pathogenic | T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency |
| RS137852627 | Health Risk | Pathogenic | T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency |
| RS1380154594 | Health Risk | Pathogenic | T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency |
| RS138201425 | Health Risk | Pathogenic | T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency |
| RS140655992 | Health Risk | Pathogenic | Severe combined immunodeficiency disease, Neoplasm, T-B+ severe combined immunodeficiency due to JAK3 deficiency |
| RS149316157 | Health Risk | Pathogenic | T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency |
| RS1568400897 | Health Risk | Pathogenic | T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency |
| RS1568404443 | Health Risk | Pathogenic | T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency |
| RS1599873586 | Health Risk | Pathogenic | NK-cell enteropathy, NK-cell enteropathy |
| RS1599873591 | Health Risk | Pathogenic | T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency |
| RS193922364 | Health Risk | Pathogenic | Severe combined immunodeficiency disease, T-B+ severe combined immunodeficiency due to JAK3 deficiency, Severe combined immunodeficiency disease |
| RS2094211974 | Health Risk | Pathogenic | T-B+ severe combined immunodeficiency due to JAK3 deficiency, Severe combined immunodeficiency disease, T-B+ severe combined immunodeficiency due to JAK3 deficiency |
| RS2094212167 | Health Risk | Pathogenic | T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency |
| RS2094216961 | Health Risk | Pathogenic | T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency |
| RS2094235007 | Health Risk | Pathogenic | T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency |
| RS2094238720 | Health Risk | Pathogenic | T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency |
| RS2094242185 | Health Risk | Pathogenic | T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency |