ITK (IL2 Inducible T Cell Kinase)
A key tyrosine kinase in T-cell signaling and immune regulation
Gene Information Card
| Symbol | ITK |
|---|---|
| Full Name | IL2 Inducible T Cell Kinase |
| Gene Type | Protein coding |
| Chromosomal Location | 5q33.3 |
| NCBI Gene ID | 3702 ncbi.nlm.nih.gov/gene/3702 |
| Ensembl ID | ENSG00000113263 |
| UniProt ID | Q08881 |
| OMIM ID | 186973 |
| HGNC ID | 6171 |
| Aliases | EMT, LYK, PSCTK2, TSK |
Description
ITK (IL2 Inducible T Cell Kinase) encodes a tyrosine kinase of the Tec family, predominantly expressed in T cells. It plays a critical role in T-cell receptor (TCR) signaling, T-cell development, and differentiation. ITK is essential for proper immune responses, and its deficiency leads to impaired T-cell function and immune dysregulation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Lymphoproliferative syndrome 1 (LPFS1) | Loss-of-function mutations in ITK impair TCR signaling, leading to defective T-cell activation and proliferation, resulting in lymphoproliferation and autoimmunity. | OMIM #613011; multiple case reports |
| Severe combined immunodeficiency (SCID) phenotype | Biallelic ITK mutations cause a combined immunodeficiency with susceptibility to infections and EBV-associated lymphoproliferation. | ClinVar; PMID: 19210553 |
| T-cell non-Hodgkin lymphoma | Somatic mutations and altered ITK expression contribute to aberrant T-cell signaling and lymphomagenesis. | COSMIC; PMID: 22955918 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | 32.5 | High |
| Spleen | 28.1 | High |
| Thymus | 25.3 | High |
| Bone marrow | 12.4 | Medium |
| Blood | 10.8 | Medium |
| Lung | 2.3 | Low |
| Brain | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Jurkat (T-cell leukemia) | 45.2 | High expression; model for TCR signaling |
| K-562 (myelogenous leukemia) | 3.1 | Low expression |
| HeLa (cervical carcinoma) | 0.8 | Not detected |
| HEK293 (embryonic kidney) | 0.2 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1762C>T (p.Arg588*) | Nonsense | Rare | Loss of function; truncation of kinase domain |
| c.1678G>A (p.Gly560Arg) | Missense | Rare | Loss of function; impaired kinase activity |
| c.1325A>G (p.Tyr442Cys) | Missense | Rare | Loss of function; reduced protein stability |
| c.100C>T (p.Arg34*) | Nonsense | Rare | Loss of function; premature stop codon |
Mutation functional classification
Loss of Function (LOF)
Most reported ITK mutations are loss-of-function, leading to reduced or absent kinase activity, impaired TCR signaling, and T-cell dysfunction.
Gain of Function (GOF)
No well-characterized gain-of-function mutations reported in ITK.
Dominant Negative (DN)
Some missense mutations may exert dominant-negative effects by interfering with wild-type ITK signaling complexes.
View complete mutation data：
Gene Ontology (GO)
Pathways
• T cell receptor signaling pathway (KEGG hsa04660)
• Fc epsilon RI signaling pathway (KEGG hsa04664)
• Chemokine signaling pathway (KEGG hsa04062)
Protein Summary
ITK is a 620-amino acid cytoplasmic tyrosine kinase belonging to the Tec family. It contains PH, SH2, SH3, and kinase domains. Upon TCR activation, ITK is recruited to the membrane via PI3K-generated PIP3, where it phosphorylates PLCG1, leading to calcium mobilization and downstream signaling essential for T-cell activation, proliferation, and cytokine production.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ITK Knockout HEK293 Cell Line | EDJ-KQ3755 | Human | 3702 | Details Get a Quote |
| ITK Knockout HeLa Cell Line | EDJ-KQ53687 | Human | 3702 | Details Get a Quote |
| ITK Knockout A-549 Cell Line | EDJ-KQ62163 | Human | 3702 | Details Get a Quote |
| ITK Knockout HCT 116 Cell Line | EDJ-KQ70651 | Human | 3702 | Details Get a Quote |
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