JAK3 Chromosome 19
Janus kinase 3
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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 |
|---|---|---|---|
| RS1057518544 | Health Risk | Conflicting classifications of pathogenicity | T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency |
| RS1257606008 | Health Risk | Conflicting classifications of pathogenicity | T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency |
| RS138593705 | Health Risk | Conflicting classifications of pathogenicity | T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency |
| RS138645044 | Health Risk | Conflicting classifications of pathogenicity | T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency |
| RS139738701 | Health Risk | Conflicting classifications of pathogenicity | T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency |
| RS1424732031 | Health Risk | Conflicting classifications of pathogenicity | Severe combined immunodeficiency, autosomal recessive, T cell-negative |
| RS143038064 | Health Risk | 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 |
| RS143936463 | Health Risk | Conflicting classifications of pathogenicity | T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency |
| RS144195765 | Health Risk | Conflicting classifications of pathogenicity | T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency |
| RS1448668382 | Health Risk | Conflicting classifications of pathogenicity | T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency |
| RS145377049 | Health Risk | Conflicting classifications of pathogenicity | T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency |
| RS146837396 | Health Risk | Conflicting classifications of pathogenicity | T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency |
| RS147498283 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS149701114 | Health Risk | Conflicting classifications of pathogenicity | T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency |
| RS149873298 | Health Risk | Conflicting classifications of pathogenicity | T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency |
| RS193922362 | Health Risk | Conflicting classifications of pathogenicity | Severe combined immunodeficiency disease, T-B+ severe combined immunodeficiency due to JAK3 deficiency, Severe combined immunodeficiency disease |
| RS199902822 | Health Risk | Conflicting classifications of pathogenicity | T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency |
| RS199910484 | Health Risk | Conflicting classifications of pathogenicity | T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency |
| RS199939250 | Health Risk | Conflicting classifications of pathogenicity | T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency |
| RS200123352 | Health Risk | Conflicting classifications of pathogenicity | T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency |
| RS200269517 | Health Risk | 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 |
| RS200376035 | Health Risk | Conflicting classifications of pathogenicity | T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency |
| RS200658439 | Health Risk | Conflicting classifications of pathogenicity | T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency |
| RS200746503 | Health Risk | Conflicting classifications of pathogenicity | T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency |
| RS200863318 | Health Risk | 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 |
| RS201288968 | Health Risk | Conflicting classifications of pathogenicity | T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency |
| RS201698409 | Health Risk | Conflicting classifications of pathogenicity | T-B+ severe combined immunodeficiency due to JAK3 deficiency, JAK3-related disorder, T-B+ severe combined immunodeficiency due to JAK3 deficiency |
| RS201970522 | Health Risk | Conflicting classifications of pathogenicity | T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency |
| RS202043320 | Health Risk | Conflicting classifications of pathogenicity | T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency |
| RS3212716 | Health Risk | Conflicting classifications of pathogenicity | T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency |
| RS3213408 | Health Risk | Conflicting classifications of pathogenicity | T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency |
| RS35785705 | Health Risk | Conflicting classifications of pathogenicity | T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency |
| RS369402343 | Health Risk | Conflicting classifications of pathogenicity | T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency |
| RS56384680 | Health Risk | Conflicting classifications of pathogenicity | T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency |
| RS571402316 | Health Risk | Conflicting classifications of pathogenicity | T-B+ severe combined immunodeficiency due to JAK3 deficiency, JAK3-related disorder, T-B+ severe combined immunodeficiency due to JAK3 deficiency |
| RS752088869 | Health Risk | Conflicting classifications of pathogenicity | T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency |
| RS754402855 | Health Risk | Conflicting classifications of pathogenicity | T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency |
| RS757910571 | Health Risk | Conflicting classifications of pathogenicity | T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency |
| RS767424476 | Health Risk | Conflicting classifications of pathogenicity | T-B+ severe combined immunodeficiency due to JAK3 deficiency, JAK3-related disorder, Inborn genetic diseases |
| RS769459507 | Health Risk | Conflicting classifications of pathogenicity | T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency |
| RS781208496 | Health Risk | Conflicting classifications of pathogenicity | T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency |
| RS896905338 | Health Risk | 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 |
| RS1064793156 | Health Risk | Likely pathogenic | — |
| RS1064795657 | Health Risk | Likely pathogenic | — |
| RS1267244210 | Health Risk | Likely pathogenic | T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency |
| RS1456950456 | Health Risk | Likely pathogenic | T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency |
| RS1486760100 | Health Risk | Likely pathogenic | JAK3-related disorder, T-B+ severe combined immunodeficiency due to JAK3 deficiency, JAK3-related disorder |
| RS1555743321 | Health Risk | Likely pathogenic | Severe combined immunodeficiency disease, Severe combined immunodeficiency disease |
| RS1599876167 | Health Risk | Likely pathogenic | T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency |
| RS193922361 | Health Risk | Likely pathogenic | Severe combined immunodeficiency disease, T-B+ severe combined immunodeficiency due to JAK3 deficiency, Severe combined immunodeficiency disease |