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Target intelligence / Profile preview
Janus kinase 2 V617F mutant (JAK2V617F)
- Target
- JAK2V617F
- Molecular classification
- Kinase, Tyrosine kinase, Pseudokinase
01
Overview
The JAK2V617F mutation is a gain-of-function mutation in the JAK2 tyrosine kinase that drives constitutive activation of the JAK/STAT signaling pathway, leading to uncontrolled proliferation of hematopoietic cells. It is a key driver mutation in myeloproliferative neoplasms (MPNs) like polycythemia vera, essential thrombocythemia, and primary myelofibrosis and a therapeutic target.
- Other names
- JAK2 V617FJAK2 (V617F)JAK2 p.Val617PheJAK2 c.1849G>T
02
Mechanism of action
Ruxolitinib inhibits both wild-type and mutant JAK2, reducing downstream signaling through the JAK/STAT pathway.
03
Biological functions
Signal transductionCell proliferationHematopoiesisCytokine signalingRegulation of gene expression
04
Disease associations
Myeloproliferative neoplasmsPolycythemia veraEssential thrombocythemiaPrimary myelofibrosisAcute myeloid leukemia
05
Safety considerations
ThrombocytopeniaAnemiaNeutropeniaIncreased risk of infectionIncreased risk of thrombosis
06
Interacting drugs
07
Biomarkers
JAK2V617F allele burdenComplete blood countSpleen size
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