ITK

Chr 5q33.3

IL2 inducible T cell kinase

Aliases:: EMT, PSCTK2, LYK
MANE:: ENST00000422843.8

OMIM: 186973 ↗NCBI: 3702 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

ITK · Q08881

v62025-08-01

Predicted Aligned Error matrix for ITK — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

84.5/ 100

Confident

620 residues

Confidence breakdown

Very high(≥ 90)51%
Confident(70–90)34%
Low(50–70)11%
Very low(< 50)5%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

COVID-19 research
BIALLELIC, autosomal or pseudoautosomal
Haematological malignancies cancer susceptibility
BIALLELIC, autosomal or pseudoautosomal
Haematological malignancies for rare disease
BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

lymphoproliferative syndrome 1
0.77
renal cell carcinoma
0.58
alopecia areata
0.56
sarcoma
0.50
Hodgkins lymphoma
0.49
combined immunodeficiency
0.46
severe combined immunodeficiency
0.46
soft tissue sarcoma
0.46
hypothyroidism
0.44
neoplasm
0.42

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Tyrosine-protein kinase ITK/TSK

Tyrosine kinase that plays an essential role in regulation of the adaptive immune response. Regulates the development, function and differentiation of conventional T-cells and nonconventional NKT-cells. When antigen presenting cells (APC) activate T-cell receptor (TCR), a series of phosphorylation lead to the recruitment of ITK to the cell membrane, in the vicinity of the stimulated TCR receptor, where it is phosphorylated by LCK. Phosphorylation leads to ITK autophosphorylation and full activation. Once activated, phosphorylates PLCG1, leading to the activation of this lipase and subsequent cleavage of its substrates. In turn, the endoplasmic reticulum releases calcium in the cytoplasm and the nuclear activator of activated T-cells (NFAT) translocates into the nucleus to perform its transcriptional duty. Phosphorylates 2 essential adapter proteins: the linker for activation of T-cells/LAT protein and LCP2. Then, a large number of signaling molecules such as VAV1 are recruited and ultimately lead to lymphokine production, T-cell proliferation and differentiation (PubMed:12186560, PubMed:12682224, PubMed:21725281). Required for TCR-mediated calcium response in gamma-delta T-cells, may also be involved in the modulation of the transcriptomic signature in the Vgamma2-positive subset of immature gamma-delta T-cells (By similarity). Phosphorylates TBX21 at 'Tyr-530' and mediates its interaction with GATA3 (By similarity)