TYK2 Chromosome 19
Tyrosine kinase 2
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What This Gene Does
This gene encodes a member of the tyrosine kinase and, more specifically, the Janus kinases (JAKs) protein families. This protein associates with the cytoplasmic domain of type I and type II cytokine receptors and promulgate cytokine signals by phosphorylating receptor subunits. It is also a component of both the type I and type III interferon signaling pathways. As such, it may play a role in anti-viral immunity. A mutation in this gene has been associated with Immunodeficiency 35. [provided by RefSeq, Sep 2020]
Gene Info
Gene Group
"FERM domain containing|Jak family tyrosine kinases"
Locus Type
gene with protein product
Location
19p13.2
Ensembl
ENSG00000105397
Associated Conditions (9)
Immunodeficiency 35
Recurrent skin infections
Immunodeficiency
Inborn genetic diseases
TYK2-related disorder
Thyroid cancer
nonmedullary
1
Squamous cell carcinoma of the head and neck
Key Variants
RS138652649
Conflicting classifications of pathogenicity
Immunodeficiency 35, Immunodeficiency 35
Health Risk
RS140078545
Conflicting classifications of pathogenicity
Immunodeficiency 35, Immunodeficiency 35
Health Risk
RS142642403
Conflicting classifications of pathogenicity
Immunodeficiency 35, Recurrent skin infections, Immunodeficiency
Health Risk
RS1433952909
Conflicting classifications of pathogenicity
Immunodeficiency 35, Inborn genetic diseases, Immunodeficiency 35
Health Risk
RS144332908
Conflicting classifications of pathogenicity
Immunodeficiency 35, Immunodeficiency 35
Health Risk
RS146786766
Conflicting classifications of pathogenicity
Immunodeficiency 35, TYK2-related disorder, Immunodeficiency 35
Health Risk
RS147442318
Conflicting classifications of pathogenicity
Immunodeficiency 35, Immunodeficiency 35
Health Risk
RS1555719851
Conflicting classifications of pathogenicity
Immunodeficiency 35, Immunodeficiency 35
Health Risk
RS184567726
Conflicting classifications of pathogenicity
Immunodeficiency 35, Immunodeficiency 35
Health Risk
RS199931972
Conflicting classifications of pathogenicity
Immunodeficiency 35, Immunodeficiency 35
Health Risk
RS200752112
Conflicting classifications of pathogenicity
Immunodeficiency 35, Immunodeficiency 35
Health Risk
RS200791116
Conflicting classifications of pathogenicity
Immunodeficiency 35, Immunodeficiency 35
Health Risk
All Variants (73)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2512567446 | Health Risk | Likely pathogenic | Immunodeficiency 35, Immunodeficiency 35 |
| RS775578531 | Health Risk | Likely pathogenic | Immunodeficiency 35, Immunodeficiency 35 |
| RS777488795 | Health Risk | Likely pathogenic | Immunodeficiency 35, Immunodeficiency 35 |
| RS779037308 | Health Risk | Likely pathogenic | — |
| RS201025290 | Health Risk | Pathogenic | Immunodeficiency 35, Immunodeficiency 35 |
| RS2145175361 | Health Risk | Pathogenic | Immunodeficiency 35, Immunodeficiency 35 |
| RS2145184643 | Health Risk | Pathogenic | Immunodeficiency 35, Immunodeficiency 35 |
| RS2512454201 | Health Risk | Pathogenic | Immunodeficiency 35, Immunodeficiency 35 |
| RS2512461325 | Health Risk | Pathogenic | Immunodeficiency 35, Immunodeficiency 35 |
| RS2512486811 | Health Risk | Pathogenic | Immunodeficiency 35, Immunodeficiency 35 |
| RS2512496801 | Health Risk | Pathogenic | Immunodeficiency 35, Immunodeficiency 35 |
| RS2512526008 | Health Risk | Pathogenic | Immunodeficiency 35, Immunodeficiency 35 |
| RS2512551491 | Health Risk | Pathogenic | Immunodeficiency 35, Immunodeficiency 35 |
| RS2512581936 | Health Risk | Pathogenic | Immunodeficiency 35, Immunodeficiency 35 |
| RS2512582393 | Health Risk | Pathogenic | Immunodeficiency 35, Immunodeficiency 35 |
| RS749285570 | Health Risk | Pathogenic | Immunodeficiency 35, Immunodeficiency 35 |
| RS759111483 | Health Risk | Pathogenic | Immunodeficiency 35, Immunodeficiency 35 |
| RS770927552 | Health Risk | Pathogenic | Immunodeficiency 35, Immunodeficiency 35 |
| RS781536408 | Health Risk | Pathogenic | Immunodeficiency 35, Immunodeficiency 35 |
| RS869320745 | Health Risk | Pathogenic | Immunodeficiency 35, Immunodeficiency 35 |
| RS879253731 | Health Risk | Pathogenic | Immunodeficiency 35, Immunodeficiency 35 |
| RS879253732 | Health Risk | Pathogenic | Immunodeficiency 35, Immunodeficiency 35 |
| RS1555719963 | Health Risk | Pathogenic/Likely pathogenic | Immunodeficiency 35, Immunodeficiency 35 |