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JAK2 - Janus kinase 2

Synonym(s) : JTK10
Previous symbols and names : _
Type : gene with protein product
Chromosomal location : 9p24.1
OMIM: 147796
HGNC: 6192
UniProtKB: O60674
Genatlas: JAK2
GenCC: JAK2
Ensembl: ENSG00000096968
IUPHAR-DB: 2048
Reactome: O60674
LOVD: JAK2

Diseases list

Disease-causing germline mutation(s) (gain of function) in Familial thrombocytosis ORPHA:71493
Disease-causing somatic mutation(s) in Essential thrombocythemia ORPHA:3318
Disease-causing somatic mutation(s) in Polycythemia vera ORPHA:729
Disease-causing somatic mutation(s) in Primary myelofibrosis ORPHA:824
Candidate gene tested in Budd-Chiari syndrome ORPHA:131

: Assessed

Additional information

Patient-centred resources for this gene

Diagnostic tests (256)

Research activities on this gene

Specialised Social Services

Eurordis directory

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