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FLASH GENE

Symbol

JAK2

contributors: mct/shn - updated : 20-06-2016

HGNC name	Janus kinase 2
HGNC id	6192

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

PRV , MPD

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral   translocation     in acute lymphoblastic leukemia tumoral fusion     gain of function in leukemia or constitutively expressed in acute lymphoblastic leukemia with t(9;12) (p24;p13) and a chimeric fusion protein, 5' - ETV6 -JAK2 - 3' tumoral fusion       BCR-JAK2 fusion, result of a t(9;22)(p24;q11.2) translocation in a chronic myeloid leukemia tumoral   translocation     t(8;9)(p22;p24), in in atypical chronic myeloid leukaemia with a PCM1-JAK2 fusion tumoral fusion       with RPN1, in t(3;9)(q21;p24) in a patient with chronic idiopathic myelofibrosis (CIMF), a chronic myeloproliferative disorder constitutional germinal mutation       V617F mutation is associated with thrombosis and pregnancy loss tumoral fusion       with SSBP2 in a t(5;9)(q14.1;p24.1) in pre-B acute lymphocytic leukemia tumoral   amplification     V617F activating mutation in addition to KIT and FLT3 mutations is associated with clinical outcome in patients with t(8;21)(q22;q22) acute myeloid leukemia tumoral somatic mutation       somatic activating mutation in 18p 100 of Down syndrome acute lymphoblastic leukaemia tumoral somatic mutation       in pediatric acute lymphoblastic leukemia tumoral   translocation     t(4;9)(q21;p24) leading to a novel SEC31A-JAK2 fusion, in classical Hodgkin lymphoma constitutional       loss of function JAK2 deficiency leaves NK cell numbers and maturation unaltered

Susceptibility

to Budd-Chiari syndrome and portal vein thrombosis

Variant & Polymorphism other	JAK2 46/1 haplotype associated with Budd-Chiari syndrome and portal vein thrombosis

Candidate gene
Marker
Therapy target	a possible therapeutic target for compounds with anti-tyrosine kinase activity
	inhibition of JAK signaling is a logical target for therapeutic intervention in JAK mutated ALL
	inhibition of CRLF2/JAK2 signaling may represent a therapeutic approach for high-risk B-ALL patients )
	System Type Disorder Pubmed blood     JAK2-targeted therapy in individuals with Chuvash polycythemia

ANIMAL & CELL MODELS

	Jak2-deficient mice are lethal at embryonic stage due to the absence of definitive erythropoiesis (
	Jak2-/- mouse embryos are anemic and die around day 12.5 postcoitum because of absence of definitive erythropoiesis (
	GnRH neuron-specific Jak2 conditional knock-out mice display reduced GnRH mRNA levels, reduced secretion of GnRH and basal serum luteinizing hormone (LH) levels are ignificantly lower in female. Female Jak2 G(-/-) mice exhibit significantly delayed puberty and first estrus, abnormal estrous cyclicity, and impaired fertility (