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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ITK Gene

protein-coding   GIFtS: 70
GCID: GC05P156607

IL2-inducible T-cell kinase

 Explore 19 diseases affiliated with
ITK via our new
 Human Malady Compendium 
Biological research products
for ITK
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
IL2-Inducible T-Cell Kinase1 2     T-Cell-Specific Kinase2 3
EMT1 2 3 5     EC 2.7.10.23 8
LYK1 2 3     Homolog Of Mouse T-Cell Itk/Tsk2
PSCTK21 2     IL-2-Inducible T Cell Kinase2
Interleukin-2-Inducible T-Cell Kinase2 3     Interleukin-2-Inducible T Cell Kinase2
Kinase EMT2 3     Tyrosine-Protein Kinase ITK/TSK2
Tyrosine-Protein Kinase Lyk2 3     EC 2.7.108
IL-2-Inducible T-Cell Kinase2 3     

External Ids:    HGNC: 61711   Entrez Gene: 37022   Ensembl: ENSG000001132637   OMIM: 1869735   UniProtKB: Q088813   

Export aliases for ITK gene to outside databases

Previous GC identifers: GC05P156656 GC05P157158 GC05P156543 GC05P156588 GC05P156540 GC05P151695


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for ITK:
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. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: ITK_HUMAN, Q08881
Function: 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

Gene Wiki entry for ITK


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000005.9  NC_018916.1  NT_023133.13  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ITK gene promoter:
         STAT1   AML1a   GATA-3   FOXJ2 (long isoform)   c-Myb   Nkx3-1 v1   FOXJ2   IRF-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidITK promoter sequence
   Search SABiosciences Chromatin IP Primers for ITK

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ITK


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 5q31-q32   Ensembl cytogenetic band:  5q33.3   HGNC cytogenetic band: 5q31-q32

ITK Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ITK gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05P156607:  view genomic region     (about GC identifiers)

Start:
156,569,944 bp from pter      End:
156,682,201 bp from pter
Size:
112,258 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: ITK_HUMAN, Q08881 (See protein sequence)
Recommended Name: Tyrosine-protein kinase ITK/TSK  
Size: 620 amino acids; 71831 Da
Cofactor: Binds 1 zinc ion per subunit (By similarity)
Subunit: Homooligomerizes; this association negatively regulates kinase activity (By similarity). Interacts with
PPIA/CYPA; this interaction regulates TCR signal strength via a proline-directed conformational switch in ITK.
Interacts with THEMIS (By similarity). Interacts with FASLG. Interacts with VAV1; this interaction is important for
VAV1 localization and TCR-induced actin polarization
Subcellular location: Cytoplasm. Note=Localizes in the vicinity of cell surface receptors in the plasma membrane after
receptor stimulation
6/19 PDB 3D structures from and Proteopedia for ITK (see all 19):
1SM2 (3D)        1SNU (3D)        1SNX (3D)        2E6I (3D)        2LMJ (3D)        2YUQ (3D)    
Secondary accessions: B2R752 Q32ML7

Explore the universe of human proteins at neXtProt for ITK: NX_Q08881

Post-translational modifications:

  • Phosphorylated at Tyr-512 in the activation loop of the kinase domain by LCK. Subsequent autophosphorylation at Tyr-180
  • leads to the kinase activation. The autophosphorylated Tyr-180 lies within the substrate binding sequence of the SH3
    domain1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q08881

  • 4/6 DME Specific Peptides for ITK (Q08881) (see all 6)
     RDLAARN  KSDVWSFG  LVQLYGVC  KKPLPPTPE 

    ITK Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_005537.3  
    ENSEMBL proteins: 
     ENSP00000430327   ENSP00000398655   ENSP00000431054  
    Reactome Protein details: Q08881
    Human Recombinant Protein Products: 
    EMD Millipore Purified and/or Recombinant ITK Protein
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    Novus Biologicals ITK Proteins
    Novus Biologicals ITK Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for ITK

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005829cytosol TAS--


    ITK for ontologies           About GeneDecksing



    ITK Antibody Products: 
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    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for ITK


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    ITK for domains           About GeneDecksing

    5/11 InterPro domains/families (see all 11):
     IPR017441 Protein_kinase_ATP_BS
     IPR001245 Ser-Thr/Tyr_kinase_cat_dom
     IPR011009 Kinase-like_dom
     IPR001849 Pleckstrin_homology
     IPR000980 SH2

    Graphical View of Domain Structure for InterPro Entry Q08881

    ProtoNet protein and cluster: Q08881

    5 Blocks protein families:
    IPB000980 SH2 domain signature
    IPB001452 SH3 domain signature
    IPB001562 Tec/Btk domain signature
    IPB001849 Pleckstrin-like
    IPB008266 Tyrosine protein kinase


    UniProtKB/Swiss-Prot: ITK_HUMAN, Q08881
    Domain: The N-terminal PH domain allows ITK to be recruited to the plasma membrane by an activated PI3 kinase. This
    domain contains also a proline-rich region (PRR). The adjoining domain is a SH3 domain, which binds to PRR (from
    itself or from other proteins). Next, a SH2 domain is required for binding tyrosine-phosphorylated substrates. In the
    C-terminal region, the kinase domain is required for tyrosine phosphorylation
    Similarity: Belongs to the protein kinase superfamily. Tyr protein kinase family. TEC subfamily
    Similarity: Contains 1 Btk-type zinc finger
    Similarity: Contains 1 PH domain
    Similarity: Contains 1 protein kinase domain
    Similarity: Contains 1 SH2 domain
    Similarity: Contains 1 SH3 domain


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: ITK_HUMAN, Q08881
    Function: 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
    Catalytic activity: ATP + a [protein]-L-tyrosine = ADP + a [protein]-L-tyrosine phosphate
    Induction: Through a myriad of surface receptors including the TCR/CD3 signaling complex, coreceptors, or chemokine
    receptors

         Genatlas biochemistry entry for ITK:
    tyrosine kinase,72kDa,mainly expressed in T cells and natural killer(NK) cells,SRC family,Tec subfamily

    Enzyme Numbers (IUBMB): EC 2.7.10.21 2 EC 2.7.102

    miRNA
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    OriGene 3'-UTR Clone: ITK
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ITK
    8 QIAGEN miScript miRNA Assays for microRNAs that regulate ITK:
    hsa-miR-140-3p hsa-miR-513b hsa-miR-127-5p hsa-miR-155 hsa-miR-943 hsa-miR-519c-3p hsa-miR-519a hsa-miR-519b-3p
    SwitchGear 3'UTR luciferase reporter plasmidITK 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ITK (see all 7)
    OriGene shRNA RFP: ITK
    OriGene siRNA: ITK
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ITK

    Gene Editing
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    Clone
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ITK

    Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004715non-membrane spanning protein tyrosine kinase activity IDA12186560
    GO:0005515protein binding IPI19807924
    GO:0005524ATP binding IEA--
    GO:0005543phospholipid binding IEA--
    GO:0046872metal ion binding IEA--


    ITK for ontologies           About GeneDecksing


    5 GenomeRNAi human phenotypes for ITK:
     Decreased 12E8 tau but not tot  Decreased focal adhesion (FA)   Decreased viability in CMK cel  Increased HPV18 LCR reporter a 
     Large cells 

    Animal Models:
         Mouse knock-outs for ITK: Itktm1Litt Itktm1Ljb
         3 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Itk):
     cellular  hematopoietic system  immune system 

    ITK for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/24 super-pathways (see all 24About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Immune response_NFAT in immune response
    Immune response_NFAT in immune response1.00
    Immune response NFAT in immune response0.91
    2Immune response_ICOS pathway in T-helper cell
    Immune response_ICOS pathway in T-helper cell1.00
    Immune response ICOS pathway in T-helper cell0.91
    3Immune System
    Immune System1.00
    Adaptive Immune System0.59
    4Immune response CD28 signaling
    Immune response CD28 signaling1.00
    Immune response_CD28 signaling0.92
    5Immune response T cell receptor signaling pathway
    Immune response T cell receptor signaling pathway1.00
    Immune response_T cell receptor signaling pathway0.88

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    4 EMD Millipore Pathways for ITK
        Immune response CD28 signaling
    Immune response NFAT in immune response
    Immune response ICOS pathway in T-helper cell
    Immune response T cell receptor signaling pathway

    5/10 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for ITK (see all 10)
        ICos-ICosL Pathway in T-Helper Cell
    CDC42 Pathway
    CD28 Signaling in T-Helper Cell
    Tec Kinases Signaling
    Transendothelial Migration of Leukocytes

    2 Cell Signaling Technology (CST) Pathways for ITK
        Lymphocyte Signaling
    Tyrosine Kinases / Adaptors

    4 GeneGo (Thomson Reuters) Pathways for ITK
        Immune response ICOS pathway in T-helper cell
    Immune response T cell receptor signaling pathway
    Immune response CD28 signaling
    Immune response NFAT in immune response

    5 BioSystems Pathways for ITK 
        B Cell Receptor Signaling Pathway
    TCR Signaling Pathway
    TCR signaling in naive CD4+ T cells
    Fc-epsilon receptor I signaling in mast cells
    Class I PI3K signaling events

    4        Reactome Pathways for ITK
        Adaptive Immune System
    TCR signaling
    Generation of second messenger molecules
    Immune System


    3         Kegg Pathways  (Kegg details for ITK):
        Chemokine signaling pathway
    T cell receptor signaling pathway
    Leukocyte transendothelial migration


    ITK for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ITK

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/76 Interacting proteins for ITK (Q088811, 2, 3 ENSP000003986554) via UniProtKB, MINT, STRING, and/or I2D (see all 76)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    LCP2Q130942, 3, ENSP000000467944MINT-59473 MINT-8224277 I2D: score=6 STRING: ENSP00000046794
    ERBB2P046262, 3, ENSP000002695714MINT-74558 MINT-74557 I2D: score=2 STRING: ENSP00000269571
    PLCG1P191742, 3, ENSP000002440074MINT-8224277 I2D: score=3 STRING: ENSP00000244007
    LCKP062392, 3, ENSP000003378254MINT-8224277 I2D: score=2 STRING: ENSP00000337825
    ABI1Q8IZP02, 3, ENSP000003653124MINT-7908362 I2D: score=1 STRING: ENSP00000365312
    About this table

    Gene Ontology (GO): 5/11 biological process terms (GO ID links to tree view) (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001816cytokine production ISS--
    GO:0001865NK T cell differentiation IEA--
    GO:0002250adaptive immune response ISS--
    GO:0006968cellular defense response TAS8364206
    GO:0007165signal transduction TAS8364206


    ITK for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    ITK for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for ITK

    2 HMDB Compounds for ITK    About this table
    CompoundSynonyms CAS #PubMed Ids
    ADPadenosindiphosphorsaeure (see all 8)58-64-0--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--

    1 DrugBank Compound for ITK    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Staurosporine-- 62996-74-1target--17139284 17016423

    10/11 Novoseek chemical compound relationships for ITK gene (see all 11)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tyrosine 78 137 8609388 (4), 7561053 (4), 9130632 (3), 12511421 (3) (see all 70)
    phosphatidylinositol 49.2 13 9326591 (2), 17060314 (2), 10636929 (1), 10958690 (1) (see all 6)
    phosphotyrosine 38.5 4 19955438 (2)
    threonine 37.3 2 11282020 (1), 7561053 (1)
    benzimidazole 33.8 2 18819799 (1), 18819794 (1), 17499505 (1)
    proline 28.9 5 12163161 (3), 15574377 (1)
    serine 22.4 2 11282020 (1), 7561053 (1)
    calcium 22.2 14 18181691 (3), 19917685 (2), 10636929 (1), 11313393 (1) (see all 8)
    phenylalanine 14.8 2 17897671 (1), 9312162 (1)
    lipid 0 4 9326591 (1), 11709089 (1)

    Search CenterWatch for drugs/clinical trials and news about ITK 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    About This Section

    REFSEQ mRNAs for ITK gene: 
    NM_005546.3  

    Unigene Cluster for ITK:

    IL2-inducible T-cell kinase
    Hs.558348  [show with all ESTs]
    Unigene Representative Sequence: AB209622
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000521769 ENST00000422843(uc003lwo.1) ENST00000522616 ENST00000520555
    ENST00000519402 ENST00000517779 ENST00000519759 ENST00000520173 ENST00000519749
    ENST00000523926

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    hsa-miR-140-3p hsa-miR-513b hsa-miR-127-5p hsa-miR-155 hsa-miR-943 hsa-miR-519c-3p hsa-miR-519a hsa-miR-519b-3p
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    Inhib. RNA
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ITK 
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ITK
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ITK

    Additional cDNA sequence: 

    AB209622.1 AK303609.1 AK311654.1 AK312846.1 BC094701.1 BC109077.2 BC109078.1 BX538196.1 
    D13720.1 

    7 DOTS entries:

    DT.95168684  DT.100702730  DT.101979383  DT.75110023  DT.100707524  DT.101968004  DT.40291503 

    24/36 AceView cDNA sequences (see all 36):

    AW024320 AA354109 BX538196 AU076776 NM_005546 BI835577 D13720 AA348218 
    AI279520 CD639056 AI803120 CD641711 AW439677 CB117873 CD638420 BX646272 
    AA309795 CD640822 BI911371 CD639621 R00569 BV208133 T29796 BP382860 

    GeneLoc Exon Structure

    5/10 Alternative Splicing Database (ASD) splice patterns (SP) for ITK (see all 10)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12a · 12b · 12c ^ 13a · 13b · 13c ^ 14a · 14b ^ 15a · 15b · 15c ^
    SP1:                    -                 -     -                 -                                               -                                             
    SP2:                                                                                                                                                            
    SP3:                                                                                                                                                        -   
    SP4:                                                                                                                                                            
    SP5:                    -                 -                                                                                                                     

    ExUns: 16a · 16b ^ 17a · 17b ^ 18a · 18b ^ 19a · 19b
    SP1:  -                                             
    SP2:                                                
    SP3:  -                                             
    SP4:  -     -                                       
    SP5:                                                


    ECgene alternative splicing isoforms for ITK

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    ITK expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image

    ITK expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    KidneyUreteric BudKidney
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See ITK Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ITK

    SOURCE GeneReport for Unigene cluster: Hs.558348

    UniProtKB/Swiss-Prot: ITK_HUMAN, Q08881
    Tissue specificity: T-cell lines and natural killer cell lines

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for ITK gene from 7/25 species (see all 25)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Itk1 , 5 IL2 inducible T cell kinase1, 5 88.05(n)1
    94.35(a)1
      11 (27.75 cM)5
    164281  NM_010583.21  NP_034713.21 
     463251505 
    chicken
    (Gallus gallus)
    Aves ITK1 IL2-inducible T-cell kinase 74.66(n)
    78.12(a)
      416247  XM_414568.2  XP_414568.3 
    lizard
    (Anolis carolinensis)
    Reptilia ITK6
    --
    69(a)
    1 ↔ 1
    GL343205.1(2576407-2618251)
    zebrafish
    (Danio rerio)
    Actinopterygii itk2 IL2-inducible T-cell kinase 77.18(n)   30323  AF016326.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Btk29A3 male genital morphogenesis (sensu
    Holometabola) protein tyrosine kinase less
    50(a)   29A1   --
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT1G047006
    AT5G576106
    (see all 7)
    PB1 domain-containing protein tyrosine kinase
    octicosapeptide/Phox/Bem1p domain-containing prote...
    (see all 7)
    9(a)
    8(a)
    (see all 7)
    many ↔ many
    many ↔ many
    (see all 7)
    1(1316254-1320919)
    5(23324791-23329347)
    rice
    (Oryza sativa)
    Liliopsida --
    --
    (see all 5)
    protein kinase domain containing protein, expresse...
    protein kinase domain containing protein, expresse...
    (see all 5)
    9(a)
    8(a)
    (see all 5)
    many ↔ many
    many ↔ many
    (see all 5)
    6(26398279-26404234)
    7(14722116-14730584)


    ENSEMBL Gene Tree for ITK (if available)
    TreeFam Gene Tree for ITK (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ITK gene
    TEC2  FRK2  LCK2  BLK2  FGR2  LYN2  TXK2  HCK2  
    YES12  PTK62  SRC2  ABL12  FYN2  BMX2  ABL22  SRMS2  
    BTK2  
    18/23 SIMAP similar genes for ITK using alignment to 3 protein entries:     ITK_HUMAN (see all proteins) (see all similar genes):
    TXK    BTK kinase deficient isoform 2    TEC    EPHA2    BMX    FYN
    BCR/ABL fusion    ABL1    BLK    FGR    FRK    HCK
    SRC    YES1    LCK    ABL2    LYN    CSK

    ITK for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1498 NCBI SNPs in ITK are shown (see all 1498    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1219081911,2
    Cpathogenic156668673(+) GACTCC/TGGTAT 2 R W mis10--------
    rs765814221,2
    C--156605927(+) AAGTGA/GACTTT 1 -- us2k10--------
    rs801132041,2
    F,--156606006(+) TTGAGC/TCTCCT 1 -- us2k11Minor allele frequency- T:0.03WA 118
    rs4212861,2
    C,F,A,H,--156606123(-) TCTTTC/TGTTTG 1 -- us2k115Minor allele frequency- T:0.17MN NA NS EA WA CSA 1424
    rs1898481491,2
    --156606144(+) TTGCAA/GCAGCT 1 -- us2k10--------
    rs1806993431,2
    --156606172(+) TTCCCA/GGATGA 1 -- us2k10--------
    rs4514941,2
    C,F,A,H,--156606196(-) AGTTAT/CAGACT 1 -- us2k1 tfbs320Minor allele frequency- C:0.18MN NS EA NA WA CSA 1267
    rs1160735821,2
    F,--156606249(+) GAGGAG/TTTTGT 1 -- us2k11Minor allele frequency- T:0.02WA 118
    rs3651711,2
    C,F,H,--156606311(+) AGAAAC/TCTCAA 1 -- us2k18Minor allele frequency- T:0.13NS EA NA WA 662
    rs765012471,2
    --156606352(+) AAAATC/GTAATC 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for ITK (156569944 - 156682201 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for ITK: --
    Human Gene Mutation Database (HGMD): ITK

    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    ITK for disorders           About GeneDecksing

    OMIM gene information: 186973   
    OMIM disorders: 613011  
    UniProtKB/Swiss-Prot: ITK_HUMAN, Q08881
  • Defects in ITK are the cause of lymphoproliferative syndrome EBV-associated autosomal type 1 (LPSA1)
  • [MIM:613011]. LPSA1 is a rare immunodeficiency characterized by extreme susceptibility to infection with Epstein-Barr
    virus (EBV). Inadequate immune response to EBV can have a fatal outcome. Clinical features include splenomegaly,
    lymphadenopathy, anemia, thrombocytopenia, pancytopenia, recurrent infections. There is an increased risk for lymphoma

    19 diseases for ITK:    About MalaCards
    lymphoproliferative syndrome, ebv-associated, autosomal, 1    wiskott-aldrich syndrome    lymphoproliferative syndrome    agammaglobulinemia
    allergic rhinitis    peripheral t-cell lymphoma    chronic myeloid leukemia    allergic asthma
    pancytopenia    myeloid leukemia    splenomegaly    rhinitis
    asthma    eczema    protein s deficiency    atopy
    gout    pneumonia    leukemia

    1 disease from the University of Copenhagen DISEASES database for ITK:
    Agammaglobulinemia

    6 Novoseek disease relationships for ITK gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    x-linked agammaglobulinemia 81.4 2 10556826 (1), 8892607 (1)
    asthma allergic 58.4 8 16630934 (3), 12734350 (2), 19689375 (1), 20218931 (1)
    asthma 11.1 3 16159638 (1), 12734350 (1)
    pneumonia 0 2 15323564 (1), 12734350 (1)
    inflammation 0 7 19689375 (2), 16630934 (2), 15907913 (1), 20218931 (1)
    allergy 0 1 17069754 (1)

    Genetic Association Database (GAD): ITK
    Human Genome Epidemiology (HuGE) Navigator: ITK (5 documents)

    Export disorders for ITK gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for ITK gene, integrated from 9 sources (see all 178):
    (articles sorted by number of sources associating them with ITK)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification, cloning, and characterization of a novel human T- cell-specific tyrosine kinase located at the hematopoietin complex on chromosome 5q. (PubMed id 8364206)1, 2, 3, 9 Gibson S....Mills G.B. (1993)
    2. Lck phosphorylates the activation loop tyrosine of the Itk kinase domain and activates Itk kinase activity. (PubMed id 9312162)1, 2, 9 Heyeck S.D....Berg L.J. (1997)
    3. Tec kinase Itk forms membrane clusters specifically in the vicinity of recruiting receptors. (PubMed id 17060314)1, 2, 9 Qi Q....August A. (2006)
    4. Association of atopy and eczema with polymorphisms in T-cell immunoglobulin domain and mucin domain-IL-2-inducible T-cell kinase gene cluster in chromosome 5 q 33. (PubMed id 16159638)1, 4, 9 Graves P.E....Martinez F.D. (2005)
    5. Phosphorylation of the linker for activation of T-cells by Itk promotes recruitment of Vav. (PubMed id 12186560)1, 2, 9 Perez-Villar J.J....Kanner S.B. (2002)
    6. SH2-dependent autophosphorylation within the Tec fami ly kinase Itk. (PubMed id 19523959)1, 2, 9 Joseph R.E....Andreotti A.H. (2009)
    7. Sequential phosphorylation of SLP-76 at tyrosine 173 is required for activation of T and mast cells. (PubMed id 21725281)1, 2 Sela M....Yablonski D. (2011)
    8. Identification of SH3 domain interaction partners of human FasL (CD178) by phage display screening. (PubMed id 19807924)1, 2 Voss M....Janssen O. (2009)
    9. Girls homozygous for an IL-2-inducible T cell kinase mutation that leads to protein deficiency develop fatal EBV-associated lymphopr oliferation. (PubMed id 19425169)1, 2 Huck K....Borkhardt A. (2009)
    10. Robust phosphoproteomic profiling of tyrosine phosphorylation sites from human T cells using immobilized metal affinity chromatography and tandem mass spectrometry. (PubMed id 15144186)1, 2 Brill L.M....Peters E.C. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 3702 HGNC: 6171 AceView: ITK Ensembl:ENSG00000113263 euGenes: HUgn3702
    ECgene: ITK Kegg: 3702 H-InvDB: ITK

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for ITK Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for ITK Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for ITK gene:
    Search GeneIP for patents involving ITK

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
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    About This Section

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