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

rs7849191 in JAK2 gene and Crohn Disease PMID 18587394 2008 Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease.

rs1887428 in JAK2 gene and Lupus Erythematosus, Systemic PMID 27399966 2016 Genome-wide association meta-analysis in Chinese and European individuals identifies ten new loci associated with systemic lupus erythematosus.

rs1887428 in JAK2 gene and White Blood Cell Count procedure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.