Gene: ITK

Alternate names for this Gene: EMT|LPFS1|LYK|PSCTK2

Gene Summary: This gene encodes an intracellular tyrosine kinase expressed in T-cells. The protein contains both SH2 and SH3 domains which are often found in intracellular kinases. It is thought to play a role in T-cell proliferation and differentiation.

Gene is located in Chromosome: 5

Location in Chromosome : 5q33.3

Description of this Gene: IL2 inducible T cell kinase

Type of Gene: protein-coding

rs450067 in ITK gene and Eosinophil count procedure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs121908191 in ITK gene and LYMPHOPROLIFERATIVE SYNDROME 1 PMID 19425169 2009 Girls homozygous for an IL-2-inducible T cell kinase mutation that leads to protein deficiency develop fatal EBV-associated lymphoproliferation.

rs411174 in ITK gene and Personality Traits PMID 21368711 2011 Genome-wide association study of personality traits in bipolar patients.

rs111782388 in ITK gene and Respiratory Tract Diseases PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.