Written | 2007-04 | Berthold Streubel |
Department of Pathology, Medical University of Vienna, Waehringer, Guertel 18-20, A-1090 Vienna, Austria |
Identity |
Alias (NCBI) | EMT | LYK | MGC126257 | MGC126258 | PSCTK2 |
HGNC (Hugo) | ITK |
HGNC Alias symb | EMT | PSCTK2 | LYK |
HGNC Previous name | IL2-inducible T-cell kinase | IL2 inducible T-cell kinase |
LocusID (NCBI) | 3702 |
Atlas_Id | 43329 |
Location | 5q33.3 [Link to chromosome band 5q33] |
Location_base_pair | Starts at 157180840 and ends at 157255185 bp from pter ( according to GRCh38/hg38-Dec_2013) [Mapping ITK.png] |
Fusion genes (updated 2017) | Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands) |
AKR1B1 (7q33) / ITK (5q33.3) | ITK (5q33.3) / SYK (9q22.2) | SYK (9q22.2) / ITK (5q33.3) | |
DNA/RNA |
Description | centromere to telomere orientation; Exons: 17 |
Transcription | Transcript length: 4,419 bps |
Protein |
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ITK protein | |
Description | Number of residues: 620 residues; Molecular weight: 71 kDa; Conserved domains: PH-Tec, Tec pleckstrin homology (PH) domain; BTK, Bruton's tyrosine kinase Cys-rich motif; SH3, Src homology 3 domains; SH2, Src homology 2 domains; TyrKc, Tyrosine kinase, catalytic domain. |
Function | Although originally described as an important component of proximal TCR signaling pathways, the Tec family tyrosine kinase Itk has become increasingly recognized for its important role in regulating T-helper-cell differentiation. Itk has a crucial role in Th2 responses, both the protective responses to pathogenic infections in addition to the pathological responses resulting in allergic asthma. Itk is not required for Th2 differentiation per se, but effector Th2 cytokine production during recall responses is severely impaired in the absence of Itk. |
Implicated in |
Note | |
Entity | t(5;9)(q33;q22) |
Disease | peripheral T-cell lymphomas, unspecified (PTCL-u). ITK-SYK transcripts were detected in 5 of 30 (17%) unspecified peripheral T-cell lymphomas, but not in cases of angioimmunoblastic T-cell lymphoma (n=9) and ALK-negative anaplastic large cell lymphoma (n=7) |
Hybrid/Mutated Gene | N-terminal pleckstrin homology domain and proline-rich region of ITK fused to the tyrosine kinase domain of SYK. |
Bibliography |
Regulatory intramolecular association in a tyrosine kinase of the Tec family. |
Andreotti AH, Bunnell SC, Feng S, Berg LJ, Schreiber SL |
Nature. 1997 ; 385 (6611) : 93-97. |
PMID 8985255 |
Tec kinases: modulators of lymphocyte signaling and development. |
Lewis CM, Broussard C, Czar MJ, Schwartzberg PL |
Current opinion in immunology. 2001 ; 13 (3) : 317-325. |
PMID 11406363 |
Altered T cell receptor signaling and disrupted T cell development in mice lacking Itk. |
Liao XC, Littman DR |
Immunity. 1995 ; 3 (6) : 757-769. |
PMID 8777721 |
T cell receptor-initiated calcium release is uncoupled from capacitative calcium entry in Itk-deficient T cells. |
Liu KQ, Bunnell SC, Gurniak CB, Berg LJ |
The Journal of experimental medicine. 1998 ; 187 (10) : 1721-1727. |
PMID 9584150 |
Requirement for Tec kinases Rlk and Itk in T cell receptor signaling and immunity. |
Schaeffer EM, Debnath J, Yap G, McVicar D, Liao XC, Littman DR, Sher A, Varmus HE, Lenardo MJ, Schwartzberg PL |
Science (New York, N.Y.). 1999 ; 284 (5414) : 638-641. |
PMID 10213685 |
Novel t(5;9)(q33;q22) fuses ITK to SYK in unspecified peripheral T-cell lymphoma. |
Streubel B, Vinatzer U, Willheim M, Raderer M, Chott A |
Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K. 2006 ; 20 (2) : 313-318. |
PMID 16341044 |
Tec kinases: a family with multiple roles in immunity. |
Yang WC, Collette Y, Nunès JA, Olive D |
Immunity. 2000 ; 12 (4) : 373-382. |
PMID 10795735 |
Citation |
This paper should be referenced as such : |
Streubel, Berthold |
ITK (IL2-inducible T-cell kinase) |
Atlas Genet Cytogenet Oncol Haematol. 2007;11(4):272-273. |
Free journal version : [ pdf ] [ DOI ] |
Other Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ] |
t(5;9)(q33;q22) ITK/SYK
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External links |
REVIEW articles | automatic search in PubMed |
Last year publications | automatic search in PubMed |
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