Gene: JAK2

Alternate names for this Gene: JTK10

Gene Summary: This gene product is a protein tyrosine kinase involved in a specific subset of cytokine receptor signaling pathways. It has been found to be constituitively associated with the prolactin receptor and is required for responses to gamma interferon. Mice that do not express an active protein for this gene exhibit embryonic lethality associated with the absence of definitive erythropoiesis.

Gene is located in Chromosome: 9

Location in Chromosome : 9p24.1

Description of this Gene: Janus kinase 2

Type of Gene: protein-coding

Gene: INSL6

Alternate names for this Gene: RIF1

Gene Summary: The protein encoded by this gene contains a classical signature of the insulin superfamily and is significantly similar to relaxin and relaxin-like factor. This gene is preferentially expressed in testis. Its expression in testis is restricted to interstitial cells surrounding seminiferous tubules, which suggests a role in sperm development and fertilization.

Gene is located in Chromosome: 9

Location in Chromosome : 9p24.1

Description of this Gene: insulin like 6

Type of Gene: protein-coding

rs1057519722 in JAK2;INSL6 gene and Acute lymphoblastic leukemia with lymphomatous features PMID 18805579 2008 Mutations of JAK2 in acute lymphoblastic leukaemias associated with Down's syndrome.

PMID 22955920 2012 Targeting JAK1/2 and mTOR in murine xenograft models of Ph-like acute lymphoblastic leukemia.

PMID 22368270 2012 Sorafenib treatment of FLT3-ITD(+) acute myeloid leukemia: favorable initial outcome and mechanisms of subsequent nonresponsiveness associated with the emergence of a D835 mutation.

PMID 19470474 2009 JAK mutations in high-risk childhood acute lymphoblastic leukemia.

rs202237966 in JAK2;INSL6 gene and Body Height PMID 31562340 2019 Characterizing rare and low-frequency height-associated variants in the Japanese population.

rs1057520016 in JAK2;INSL6 gene and Myeloproliferative disease PMID 20585391 2010 JAK2 V617F constitutive activation requires JH2 residue F595: a pseudokinase domain target for specific inhibitors.

PMID 19287384 2009 A germline JAK2 SNP is associated with predisposition to the development of JAK2(V617F)-positive myeloproliferative neoplasms.

PMID 17267906 2007 JAK2 exon 12 mutations in polycythemia vera and idiopathic erythrocytosis.

rs150221602 in JAK2;INSL6 gene and Platelet Count measurement PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs12342421 in JAK2;INSL6 gene and Red Blood Cell Count measurement PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.