ITK (IL2-inducible T-cell kinase)

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ITK (IL2-inducible T-cell kinase)

Written	2007-04	Berthold Streubel
		Department of Pathology, Medical University of Vienna, Waehringer, Guertel 18-20, A-1090 Vienna, Austria

(Note : for Links provided by Atlas : click)

Identity

Alias_names	IL2-inducible T-cell kinase
Alias_symbol (synonym)	EMT
	PSCTK2
	LYK
Other alias	MGC126257
	MGC126258
HGNC (Hugo)	ITK
LocusID (NCBI)	3702
Atlas_Id	43329
Location	5q33.3 [Link to chromosome band 5q33]
Location_base_pair	Starts at 157180896 and ends at 157255099 bp from pter ( according to hg19-Feb_2009) [Mapping ITK.png]

Fusion genes (updated 2016)	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



	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 ]

On line version : http://AtlasGeneticsOncology.org/Genes/ITKID43329ch5q33.html

Other Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ]

t(5;9)(q33;q22) ITK/SYK

External links

	Nomenclature
HGNC (Hugo)	ITK 6171
LRG (Locus Reference Genomic)	LRG_189
	Cards
Atlas	ITKID43329ch5q33
Entrez_Gene (NCBI)	ITK 3702 IL2 inducible T-cell kinase
Aliases	EMT; LPFS1; LYK; PSCTK2
GeneCards (Weizmann)	ITK
Ensembl hg19 (Hinxton)	ENSG00000113263 [Gene_View]
Ensembl hg38 (Hinxton)	ENSG00000113263 [Gene_View] chr5:157180896-157255099 [Contig_View] ITK [Vega]
ICGC DataPortal	ENSG00000113263
TCGA cBioPortal	ITK
AceView (NCBI)	ITK
Genatlas (Paris)	ITK
WikiGenes	3702
SOURCE (Princeton)	ITK
Genetics Home Reference (NIH)	ITK
	Genomic and cartography
GoldenPath hg38 (UCSC)	ITK - chr5:157180896-157255099 + 5q33.3 [Description] (hg38-Dec_2013)
GoldenPath hg19 (UCSC)	ITK - 5q33.3 [Description] (hg19-Feb_2009)
Ensembl	ITK - 5q33.3 [CytoView hg19] ITK - 5q33.3 [CytoView hg38]
Mapping of homologs : NCBI	ITK [Mapview hg19] ITK [Mapview hg38]
OMIM	186973 613011
	Gene and transcription
Genbank (Entrez)	AB209622 AK303609 AK311654 AK312846 BC094701
RefSeq transcript (Entrez)	NM_005546
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)	ITK
Cluster EST : Unigene	Hs.558348 [ NCBI ]
CGAP (NCI)	Hs.558348
Alternative Splicing Gallery	ENSG00000113263
Gene Expression	ITK [ NCBI-GEO ] ITK [ EBI - ARRAY_EXPRESS ] ITK [ SEEK ] ITK [ MEM ]
Gene Expression Viewer (FireBrowse)	ITK [ Firebrowse - Broad ]
SOURCE (Princeton)	Expression in : [Datasets] [Normal Tissue Atlas] [carcinoma Classsification] [NCI60]
Genevisible	Expression in : [tissues] [cell-lines] [cancer] [perturbations]
BioGPS (Tissue expression)	3702
GTEX Portal (Tissue expression)	ITK
	Protein : pattern, domain, 3D structure
UniProt/SwissProt	Q08881 [function] [subcellular_location] [family_and_domains] [pathology_and_biotech] [ptm_processing] [expression] [interaction]
NextProt	Q08881 [Sequence] [Exons] [Medical] [Publications]
With graphics : InterPro	Q08881
Splice isoforms : SwissVar	Q08881
Catalytic activity : Enzyme	2.7.10.2 [ Enzyme-Expasy ] 2.7.10.2 2.7.10.2 [ IntEnz-EBI ] 2.7.10.2 [ BRENDA ] 2.7.10.2 [ KEGG ]
PhosPhoSitePlus	Q08881
Domaine pattern : Prosite (Expaxy)	PH_DOMAIN (PS50003) PROTEIN_KINASE_ATP (PS00107) PROTEIN_KINASE_DOM (PS50011) PROTEIN_KINASE_TYR (PS00109) SH2 (PS50001) SH3 (PS50002) ZF_BTK (PS51113)
Domains : Interpro (EBI)	Kinase-like_dom PH_dom-like PH_domain Prot_kinase_dom Protein_kinase_ATP_BS Ser-Thr/Tyr_kinase_cat_dom SH2 SH3_domain Tyr_kinase_AS Tyr_kinase_cat_dom Znf_Btk_motif
Domain families : Pfam (Sanger)	BTK (PF00779) PH (PF00169) Pkinase_Tyr (PF07714) SH2 (PF00017) SH3_1 (PF00018)
Domain families : Pfam (NCBI)	pfam00779 pfam00169 pfam07714 pfam00017 pfam00018
Domain families : Smart (EMBL)	BTK (SM00107) PH (SM00233) SH2 (SM00252) SH3 (SM00326) TyrKc (SM00219)
Conserved Domain (NCBI)	ITK
DMDM Disease mutations	3702
Blocks (Seattle)	ITK
PDB (SRS)	1SM2 1SNU 1SNX 2E6I 2LMJ 2YUQ 3MIY 3MJ1 3MJ2 3QGW 3QGY 3T9T 3V5J 3V5L 3V8T 3V8W 4HCT 4HCU 4HCV 4KIO 4L7S 4M0Y 4M0Z 4M12 4M13 4M14 4M15 4MF0 4MF1 4PP9 4PPA 4PPB 4PPC 4PQN 4QD6 4RFM
PDB (PDBSum)	1SM2 1SNU 1SNX 2E6I 2LMJ 2YUQ 3MIY 3MJ1 3MJ2 3QGW 3QGY 3T9T 3V5J 3V5L 3V8T 3V8W 4HCT 4HCU 4HCV 4KIO 4L7S 4M0Y 4M0Z 4M12 4M13 4M14 4M15 4MF0 4MF1 4PP9 4PPA 4PPB 4PPC 4PQN 4QD6 4RFM
PDB (IMB)	1SM2 1SNU 1SNX 2E6I 2LMJ 2YUQ 3MIY 3MJ1 3MJ2 3QGW 3QGY 3T9T 3V5J 3V5L 3V8T 3V8W 4HCT 4HCU 4HCV 4KIO 4L7S 4M0Y 4M0Z 4M12 4M13 4M14 4M15 4MF0 4MF1 4PP9 4PPA 4PPB 4PPC 4PQN 4QD6 4RFM
PDB (RSDB)	1SM2 1SNU 1SNX 2E6I 2LMJ 2YUQ 3MIY 3MJ1 3MJ2 3QGW 3QGY 3T9T 3V5J 3V5L 3V8T 3V8W 4HCT 4HCU 4HCV 4KIO 4L7S 4M0Y 4M0Z 4M12 4M13 4M14 4M15 4MF0 4MF1 4PP9 4PPA 4PPB 4PPC 4PQN 4QD6 4RFM
Structural Biology KnowledgeBase	1SM2 1SNU 1SNX 2E6I 2LMJ 2YUQ 3MIY 3MJ1 3MJ2 3QGW 3QGY 3T9T 3V5J 3V5L 3V8T 3V8W 4HCT 4HCU 4HCV 4KIO 4L7S 4M0Y 4M0Z 4M12 4M13 4M14 4M15 4MF0 4MF1 4PP9 4PPA 4PPB 4PPC 4PQN 4QD6 4RFM
SCOP (Structural Classification of Proteins)	1SM2 1SNU 1SNX 2E6I 2LMJ 2YUQ 3MIY 3MJ1 3MJ2 3QGW 3QGY 3T9T 3V5J 3V5L 3V8T 3V8W 4HCT 4HCU 4HCV 4KIO 4L7S 4M0Y 4M0Z 4M12 4M13 4M14 4M15 4MF0 4MF1 4PP9 4PPA 4PPB 4PPC 4PQN 4QD6 4RFM
CATH (Classification of proteins structures)	1SM2 1SNU 1SNX 2E6I 2LMJ 2YUQ 3MIY 3MJ1 3MJ2 3QGW 3QGY 3T9T 3V5J 3V5L 3V8T 3V8W 4HCT 4HCU 4HCV 4KIO 4L7S 4M0Y 4M0Z 4M12 4M13 4M14 4M15 4MF0 4MF1 4PP9 4PPA 4PPB 4PPC 4PQN 4QD6 4RFM
Superfamily	Q08881
Human Protein Atlas	ENSG00000113263
Peptide Atlas	Q08881
HPRD	01746
IPI	IPI00004566 IPI00909204 IPI00973930 IPI00977543
	Protein Interaction databases
DIP (DOE-UCLA)	Q08881
IntAct (EBI)	Q08881
FunCoup	ENSG00000113263
BioGRID	ITK
STRING (EMBL)	ITK
ZODIAC	ITK
	Ontologies - Pathways
QuickGO	Q08881
Ontology : AmiGO	cytokine production NK T cell differentiation adaptive immune response non-membrane spanning protein tyrosine kinase activity receptor binding protein binding ATP binding cytosol cell-cell junction cellular defense response signal transduction transmembrane receptor protein tyrosine kinase signaling pathway activation of phospholipase C activity extrinsic component of cytoplasmic side of plasma membrane interferon-gamma production interleukin-4 production intracellular signal transduction peptidyl-tyrosine autophosphorylation Fc-epsilon receptor signaling pathway T cell activation regulation of cell proliferation innate immune response metal ion binding T cell receptor signaling pathway T cell receptor signaling pathway
Ontology : EGO-EBI	cytokine production NK T cell differentiation adaptive immune response non-membrane spanning protein tyrosine kinase activity receptor binding protein binding ATP binding cytosol cell-cell junction cellular defense response signal transduction transmembrane receptor protein tyrosine kinase signaling pathway activation of phospholipase C activity extrinsic component of cytoplasmic side of plasma membrane interferon-gamma production interleukin-4 production intracellular signal transduction peptidyl-tyrosine autophosphorylation Fc-epsilon receptor signaling pathway T cell activation regulation of cell proliferation innate immune response metal ion binding T cell receptor signaling pathway T cell receptor signaling pathway
Pathways : BIOCARTA	The Co-Stimulatory Signal During T-cell Activation [Genes]
Pathways : KEGG	Chemokine signaling pathway T cell receptor signaling pathway Leukocyte transendothelial migration
REACTOME	Q08881 [protein]
REACTOME Pathways	R-HSA-2871809 [pathway]
NDEx Network	ITK
Atlas of Cancer Signalling Network	ITK
Wikipedia pathways	ITK
	Orthology - Evolution
OrthoDB	3702
GeneTree (enSembl)	ENSG00000113263
Phylogenetic Trees/Animal Genes : TreeFam	ITK
HOVERGEN	Q08881
HOGENOM	Q08881
Homologs : HomoloGene	ITK
Homology/Alignments : Family Browser (UCSC)	ITK
	Gene fusions - Rearrangements
Fusion : Mitelman	ITK/SYK [5q33.3/9q22.2]
Fusion : TICdb	ITK [5q33.3] - SYK [9q22.2]
	Polymorphisms : SNP and Copy number variants
NCBI Variation Viewer	ITK [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)	ITK
dbVar	ITK
ClinVar	ITK
1000_Genomes	ITK
Exome Variant Server	ITK
ExAC (Exome Aggregation Consortium)	ITK (select the gene name)
Genetic variants : HAPMAP	3702
Genomic Variants (DGV)	ITK [DGVbeta]
DECIPHER	ITK [patients] [syndromes] [variants] [genes]
CONAN: Copy Number Analysis	ITK
	Mutations
ICGC Data Portal	ITK
TCGA Data Portal	ITK
Broad Tumor Portal	ITK
OASIS Portal	ITK [ Somatic mutations - Copy number]
Cancer Gene: Census	ITK
Somatic Mutations in Cancer : COSMIC	ITK [overview] [genome browser] [tissue] [distribution]
Mutations and Diseases : HGMD	ITK
LOVD (Leiden Open Variation Database)	Whole genome datasets
LOVD (Leiden Open Variation Database)	LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)	LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)	PUBLIC CCHMC Molecular Genetics Laboratory Mutation Database
BioMuta	search ITK
DgiDB (Drug Gene Interaction Database)	ITK
DoCM (Curated mutations)	ITK (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)	ITK (select a term)
intoGen	ITK
NCG5 (London)	ITK
Cancer3D	ITK(select the gene name)
Impact of mutations	[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
	Diseases
OMIM	186973 613011
Orphanet	19269
Medgen	ITK
Genetic Testing Registry	ITK
NextProt	Q08881 [Medical]
TSGene	3702
GENETests	ITK
Target Validation	ITK
Huge Navigator	ITK [HugePedia]
snp3D : Map Gene to Disease	3702
BioCentury BCIQ	ITK
ClinGen	ITK
	Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD	3702
Chemical/Pharm GKB Gene	PA29968
Clinical trial	ITK
	Miscellaneous
canSAR (ICR)	ITK (select the gene name)
	Probes
	Litterature
PubMed	95 Pubmed reference(s) in Entrez
GeneRIFs	Gene References Into Functions (Entrez)
CoreMine	ITK
EVEX	ITK
GoPubMed	ITK
iHOP	ITK

REVIEW articles	automatic search in PubMed
Last year publications	automatic search in PubMed

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indexed on : Fri Jun 30 11:09:39 CEST 2017

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