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 |
|---|---|---|---|
| RS2094245783 | Health Risk | Pathogenic | T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency |
| RS2147674587 | Health Risk | Pathogenic | T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency |
| RS2147678860 | Health Risk | Pathogenic | T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency |
| RS2147681619 | Health Risk | Pathogenic | T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency |
| RS2147687373 | Health Risk | Pathogenic | T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency |
| RS2147691124 | Health Risk | Pathogenic | T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency |
| RS2147692665 | Health Risk | Pathogenic | T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency |
| RS2514537464 | Health Risk | Pathogenic | T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency |
| RS2514544261 | Health Risk | Pathogenic | T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency |
| RS2514544388 | Health Risk | Pathogenic | T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency |
| RS2514549645 | Health Risk | Pathogenic | T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency |
| RS2514549730 | Health Risk | Pathogenic | T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency |
| RS2514550384 | Health Risk | Pathogenic | T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency |
| RS2514553135 | Health Risk | Pathogenic | T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency |
| RS2514553390 | Health Risk | Pathogenic | T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency |
| RS2514554819 | Health Risk | Pathogenic | T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency |
| RS2514556610 | Health Risk | Pathogenic | T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency |
| RS2514556659 | Health Risk | Pathogenic | T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency |
| RS2514559505 | Health Risk | Pathogenic | T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency |
| RS2514561322 | Health Risk | Pathogenic | T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency |
| RS2514566459 | Health Risk | Pathogenic | T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency |
| RS2514568357 | Health Risk | Pathogenic | T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency |
| RS2514571932 | Health Risk | Pathogenic | T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency |
| RS2514572030 | Health Risk | Pathogenic | T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency |
| RS2514572175 | Health Risk | Pathogenic | T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency |
| RS2514575779 | Health Risk | Pathogenic | T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency |
| RS2514576148 | Health Risk | Pathogenic | T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency |
| RS2514577804 | Health Risk | Pathogenic | T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency |
| RS2514582221 | Health Risk | Pathogenic | T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency |
| RS2514582341 | Health Risk | Pathogenic | T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency |
| RS267605358 | 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 |
| RS760051760 | Health Risk | Pathogenic | T-B+ severe combined immunodeficiency due to JAK3 deficiency, Thyroid cancer, nonmedullary |
| RS769633203 | Health Risk | Pathogenic | T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency |
| RS771722300 | Health Risk | Pathogenic | T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency |
| RS774202259 | 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 |
| RS786205517 | Health Risk | Pathogenic | T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency |
| RS1057523762 | Health Risk | Pathogenic/Likely pathogenic | T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency |
| RS1160856608 | Health Risk | Pathogenic/Likely pathogenic | T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency |
| RS1467075214 | Health Risk | Pathogenic/Likely pathogenic | T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency |
| RS2094229550 | Health Risk | Pathogenic/Likely pathogenic | T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency |
| RS2147676806 | Health Risk | Pathogenic/Likely pathogenic | Severe combined immunodeficiency disease, T-B+ severe combined immunodeficiency due to JAK3 deficiency, Severe combined immunodeficiency disease |
| RS2147676896 | Health Risk | Pathogenic/Likely pathogenic | T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency |
| RS747131454 | Health Risk | Pathogenic/Likely pathogenic | T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency |
| RS749481781 | Health Risk | Pathogenic/Likely pathogenic | T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency |
| RS755706305 | Health Risk | Pathogenic/Likely pathogenic | T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency, Severe combined immunodeficiency |
| RS761583890 | Health Risk | Pathogenic/Likely pathogenic | T-B+ severe combined immunodeficiency due to JAK3 deficiency, Severe combined immunodeficiency disease, T-B+ severe combined immunodeficiency due to JAK3 deficiency |
| RS886039394 | Health Risk | Pathogenic/Likely pathogenic | T-B+ severe combined immunodeficiency due to JAK3 deficiency, Severe combined immunodeficiency disease, Adenoid cystic carcinoma |
| RS1446786243 | Trait | Affects | Hereditary spastic paraplegia, Hereditary spastic paraplegia |