Tyrosine-protein kinase JAK2
The JAK2 gene encodes a tyrosine-protein kinase that is involved in signal transduction of various cytokines. Germline mutations cause autosomal dominant thrombocytemia 3 and somatic mutations various hematological disorders and Budd-Chiari syndrome.
Genetests:
Related Diseases:
References:
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Scott LM et al. (2007) JAK2 exon 12 mutations in polycythemia vera and idiopathic erythrocytosis.
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Saltzman A et al. (1998) Cloning and characterization of human Jak-2 kinase: high mRNA expression in immune cells and muscle tissue.
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Schwaller J et al. (2000) Stat5 is essential for the myelo- and lymphoproliferative disease induced by TEL/JAK2.
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Digicaylioglu M et al. (2001) Erythropoietin-mediated neuroprotection involves cross-talk between Jak2 and NF-kappaB signalling cascades.
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Huang LJ et al. (2001) The N-terminal domain of Janus kinase 2 is required for Golgi processing and cell surface expression of erythropoietin receptor.
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Tefferi A et al. (2005) JAK2 mutations in myeloproliferative disorders.
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Campbell PJ et al. (2005) Definition of subtypes of essential thrombocythaemia and relation to polycythaemia vera based on JAK2 V617F mutation status: a prospective study.
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Jamieson CH et al. (2006) The JAK2 V617F mutation occurs in hematopoietic stem cells in polycythemia vera and predisposes toward erythroid differentiation.
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Patel RK et al. (2006) Prevalence of the activating JAK2 tyrosine kinase mutation V617F in the Budd-Chiari syndrome.
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10. |
Sozer S et al. (2009) The presence of JAK2V617F mutation in the liver endothelial cells of patients with Budd-Chiari syndrome.
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Mercier E et al. (2007) JAK2 V617F mutation in unexplained loss of first pregnancy.
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Bercovich D et al. (2008) Mutations of JAK2 in acute lymphoblastic leukaemias associated with Down's syndrome.
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Dahabreh IJ et al. (2009) No evidence for increased prevalence of JAK2 V617F in women with a history of recurrent miscarriage.
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Jones AV et al. (2009) JAK2 haplotype is a major risk factor for the development of myeloproliferative neoplasms.
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Kilpivaara O et al. (2009) A germline JAK2 SNP is associated with predisposition to the development of JAK2(V617F)-positive myeloproliferative neoplasms.
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Olcaydu D et al. (2009) A common JAK2 haplotype confers susceptibility to myeloproliferative neoplasms.
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Dawson MA et al. (2009) JAK2 phosphorylates histone H3Y41 and excludes HP1alpha from chromatin.
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Mullighan CG et al. (2009) Rearrangement of CRLF2 in B-progenitor- and Down syndrome-associated acute lymphoblastic leukemia.
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Parganas E et al. (1998) Jak2 is essential for signaling through a variety of cytokine receptors.
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20. |
Chung RT et al. (2006) Case records of the Massachusetts General Hospital. Case 15-2006. A 46-year-old woman with sudden onset of abdominal distention.
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Lee JW et al. (2006) The JAK2 V617F mutation in de novo acute myelogenous leukemias.
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Ortmann CA et al. (2015) Effect of mutation order on myeloproliferative neoplasms.
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Baxter EJ et al. () Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders.
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Kralovics R et al. (2005) A gain-of-function mutation of JAK2 in myeloproliferative disorders.
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Méndez-Ferrer S et al. (2008) Haematopoietic stem cell release is regulated by circadian oscillations.
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Méndez-Ferrer S et al. (2010) Mesenchymal and haematopoietic stem cells form a unique bone marrow niche.
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Arranz L et al. (2014) Neuropathy of haematopoietic stem cell niche is essential for myeloproliferative neoplasms.
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James C et al. (2005) A unique clonal JAK2 mutation leading to constitutive signalling causes polycythaemia vera.
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Mead AJ et al. (2012) Germline JAK2 mutation in a family with hereditary thrombocytosis.
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Pritchard MA et al. (1992) Two members of the JAK family of protein tyrosine kinases map to chromosomes 1p31.3 and 9p24.
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Campbell GS et al. (1994) Activation of JAK2 tyrosine kinase by prolactin receptors in Nb2 cells and mouse mammary gland explants.
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Gough NM et al. (1995) Localization of genes for two members of the JAK family of protein tyrosine kinases to murine chromosomes 4 and 19.
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Watling D et al. (1993) Complementation by the protein tyrosine kinase JAK2 of a mutant cell line defective in the interferon-gamma signal transduction pathway.
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Peeters P et al. (1997) Fusion of TEL, the ETS-variant gene 6 (ETV6), to the receptor-associated kinase JAK2 as a result of t(9;12) in a lymphoid and t(9;15;12) in a myeloid leukemia.
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Lacronique V et al. (1997) A TEL-JAK2 fusion protein with constitutive kinase activity in human leukemia.
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Neubauer H et al. (1998) Jak2 deficiency defines an essential developmental checkpoint in definitive hematopoiesis.
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NCBI article
NCBI 3717
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OMIM.ORG article
Omim 147796
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Orphanet article
Orphanet ID 122727
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Wikipedia article
Wikipedia EN (Janus_kinase_2)
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Update: Aug. 14, 2020