AlphaFold predicted structure
JAK3 · P52333

Mean pLDDT
85.7/ 100
Confident
1,124 residues
Confidence breakdown
- Very high(≥ 90)62%
- Confident(70–90)26%
- Low(50–70)4%
- Very low(< 50)8%
AlphaFold (Jumper et al., 2021) · CC BY 4.0
Janus kinase 3
Annotations refreshed 10 hours ago.
Diagnostic Grade (Green)
COVID-19 research
BIALLELIC, autosomal or pseudoautosomalDDG2P
BIALLELIC, autosomal or pseudoautosomalPrimary immunodeficiency or monogenic inflammatory bowel disease
BIALLELIC, autosomal or pseudoautosomalCytopenias and congenital anaemias
UnknownFetal anomalies
BIALLELIC, autosomal or pseudoautosomalIntellectual disability
BIALLELIC, autosomal or pseudoautosomalT-B+ severe combined immunodeficiency due to JAK3 deficiency
ulcerative colitis
rheumatoid arthritis
myelofibrosis
atopic eczema
alopecia areata
psoriatic arthritis
Crohn disease
acquired polycythemia vera
severe combined immunodeficiency
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Tyrosine-protein kinase JAK3
Non-receptor tyrosine kinase involved in various processes such as cell growth, development, or differentiation. Mediates essential signaling events in both innate and adaptive immunity and plays a crucial role in hematopoiesis during T-cells development. In the cytoplasm, plays a pivotal role in signal transduction via its association with type I receptors sharing the common subunit gamma such as IL2R, IL4R, IL7R, IL9R, IL15R and IL21R. Following ligand binding to cell surface receptors, phosphorylates specific tyrosine residues on the cytoplasmic tails of the receptor, creating docking sites for STATs proteins. Subsequently, phosphorylates the STATs proteins once they are recruited to the receptor. Phosphorylated STATs then form homodimer or heterodimers and translocate to the nucleus to activate gene transcription. For example, upon IL2R activation by IL2, JAK1 and JAK3 molecules bind to IL2R beta (IL2RB) and gamma chain (IL2RG) subunits inducing the tyrosine phosphorylation of both receptor subunits on their cytoplasmic domain. Then, STAT5A and STAT5B are recruited, phosphorylated and activated by JAK1 and JAK3. Once activated, dimerized STAT5 translocates to the nucleus and promotes the transcription of specific target genes in a cytokine-specific fashion
Curated MONDO disease pages that list JAK3 among their top associated genes.
JAK3 · P52333

Mean pLDDT
85.7/ 100
Confident
1,124 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0