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ITK Gene(Protein Coding)

IL2 Inducible T Cell Kinase

GCID:
GC05P157158
GIFtS:
59
Genes Participants
UDN Logo

Aliases for ITK Gene

Aliases for ITK Gene

  • IL2 Inducible T Cell Kinase 2 3 5
  • Interleukin-2-Inducible T-Cell Kinase 3 4
  • IL-2-Inducible T-Cell Kinase 3 4
  • T-Cell-Specific Kinase 3 4
  • Kinase EMT 3 4
  • EMT 3 4
  • LYK 3 4
  • Homolog Of Mouse T-Cell Itk/Tsk 3
  • Tyrosine-Protein Kinase ITK/TSK 3
  • Tyrosine-Protein Kinase LYK 3
  • Tyrosine-Protein Kinase Lyk 4
  • IL2-Inducible T-Cell Kinase 2
  • IL2 Inducible T-Cell Kinase 2
  • EC 2.7.10.2 4
  • PSCTK2 3
  • LPFS1 3

External Ids for ITK Gene

Previous GeneCards Identifiers for ITK Gene

  • GC05P156656
  • GC05P156543
  • GC05P156588
  • GC05P156540
  • GC05P156607
  • GC05P151695

Summaries for ITK Gene

Entrez Gene Summary for ITK Gene

  • 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]

GeneCards Summary for ITK Gene

ITK (IL2 Inducible T Cell Kinase) is a Protein Coding gene. Diseases associated with ITK include Lymphoproliferative Syndrome 1 and Autosomal Recessive Lymphoproliferative Disease. Among its related pathways are Immune response Fc epsilon RI pathway and T cell receptor signaling pathway. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring phosphorus-containing groups and protein tyrosine kinase activity. An important paralog of this gene is TEC.

UniProtKB/Swiss-Prot for ITK Gene

  • 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). Phosphorylates TBX21 at Tyr-530 and mediates its interaction with GATA3 (By similarity).

Tocris Summary for ITK Gene

  • ITK (IL-2-inducible T-cell kinase) is a member of the Tec family of nonreceptor tyrosine kinases that are critically important for the growth, differentiation and activation of myeloid-, mast- and B-cells. ITK has a critical role in T-cell growth, signaling and function.

Gene Wiki entry for ITK Gene

Additional gene information for ITK Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ITK Gene

Genomics for ITK Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for ITK Gene

Promoters and enhancers for ITK Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH05J157141 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 650.7 +0.0 48 2.5 PKNOX1 ARNT ARID4B SIN3A FEZF1 DMAP1 ZBTB7B YY1 POLR2B E2F8 HAVCR2 ITK THG1L CLINT1 MED7 PPP1R2B HAVCR1
GH05J157178 Promoter/Enhancer 1.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 680.5 +38.8 38836 6.5 ZNF664 ZNF112 ITK MED7 HAVCR2 HAVCR1 CYFIP2 FNDC9 FAM71B ENSG00000253980
GH05J157265 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 11 +127.3 127302 9.9 HDGF ATF1 PKNOX1 SIN3A FEZF1 IRF4 YY1 ETS1 ZNF766 GLIS2 CYFIP2 LOC102724404 HAVCR2 THG1L ITK MED7 NIPAL4 ADAM19 ENSG00000248544 ENSG00000253653
GH05J157105 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE dbSUPER 11.3 -34.7 -34700 5.1 HDGF KLF1 SMAD1 RB1 EBF1 IRF4 POLR2A EED ATF7 IKZF2 HAVCR2 ITK MED7 TIMD4 HAVCR1 ENSG00000254246 PIR42544
GH05J157459 Promoter/Enhancer 2 EPDnew Ensembl ENCODE dbSUPER 9.5 +317.6 317579 1.9 CTCF KLF1 ZNF777 SUZ12 KLF17 SIN3A ZIC2 HIC1 ZNF335 ZFHX2 NIPAL4 LOC102724404 FNDC9 ENSG00000248544 ITK MED7 ADAM19 ENSG00000253519
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ITK on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ITK gene promoter:
  • STAT1
  • GATA-3
  • IRF-1
  • FOXJ2 (long isoform)
  • FOXJ2
  • AML1a
  • Nkx3-1 v1
  • c-Myb

Genomic Locations for ITK Gene

Genomic Locations for ITK Gene
chr5:157,142,933-157,255,191
(GRCh38/hg38)
Size:
112,259 bases
Orientation:
Plus strand
chr5:156,569,944-156,682,201
(GRCh37/hg19)
Size:
112,258 bases
Orientation:
Plus strand

Genomic View for ITK Gene

Genes around ITK on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ITK Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ITK Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for ITK Gene

Proteins for ITK Gene

Products:

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  • Protein details for ITK Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q08881-ITK_HUMAN
    Recommended name:
    Tyrosine-protein kinase ITK/TSK
    Protein Accession:
    Q08881
    Secondary Accessions:
    • B2R752
    • Q32ML7

    Protein attributes for ITK Gene

    Size:
    620 amino acids
    Molecular mass:
    71831 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    • 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. Interacts with TBX21 (By similarity).

    Three dimensional structures from OCA and Proteopedia for ITK Gene

neXtProt entry for ITK Gene

Protein Expression for ITK Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for ITK Gene

  • 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 domain.
  • Ubiquitinated.
  • Ubiquitination at Lys523, isoforms=519, Lys497, Lys412, isoforms=344, Lys310, Lys291, Lys280, Lys258, Lys242, isoforms=150, isoforms=138, Lys129, and isoforms=119
  • Modification sites at PhosphoSitePlus

Other Protein References for ITK Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ITK Gene

Domains & Families for ITK Gene

Gene Families for ITK Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for ITK Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for ITK Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q08881

UniProtKB/Swiss-Prot:

ITK_HUMAN :
  • 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.
  • Belongs to the protein kinase superfamily. Tyr protein kinase family. TEC subfamily.
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.
Family:
  • Belongs to the protein kinase superfamily. Tyr protein kinase family. TEC subfamily.
genes like me logo Genes that share domains with ITK: view

Function for ITK Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for ITK Gene

UniProtKB/Swiss-Prot 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 (PubMed:12186560, PubMed:12682224, PubMed:21725281). Phosphorylates TBX21 at Tyr-530 and mediates its interaction with GATA3 (By similarity).
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + a [protein]-L-tyrosine = ADP + a [protein]-L-tyrosine phosphate.
UniProtKB/Swiss-Prot Induction:
Through a myriad of surface receptors including the TCR/CD3 signaling complex, coreceptors, or chemokine receptors.
GENATLAS Biochemistry:
tyrosine kinase,72kDa,mainly expressed in T cells and natural killer(NK) cells,SRC family,Tec subfamily

Enzyme Numbers (IUBMB) for ITK Gene

Phenotypes From GWAS Catalog for ITK Gene

Gene Ontology (GO) - Molecular Function for ITK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004672 protein kinase activity IEA --
GO:0004713 protein tyrosine kinase activity IEA --
GO:0004715 non-membrane spanning protein tyrosine kinase activity IDA,TAS 12186560
GO:0005102 NOT signaling receptor binding IBA --
GO:0005515 protein binding IPI 8892607
genes like me logo Genes that share ontologies with ITK: view
genes like me logo Genes that share phenotypes with ITK: view

Human Phenotype Ontology for ITK Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ITK Gene

MGI Knock Outs for ITK:
  • Itk Itk<tm1Litt>
  • Itk Itk<tm1Ljb>

Animal Model Products

  • Taconic Biosciences Mouse Models for ITK

Clone Products

  • Addgene plasmids for ITK

No data available for Transcription Factor Targets and HOMER Transcription for ITK Gene

Localization for ITK Gene

Subcellular locations from UniProtKB/Swiss-Prot for ITK Gene

Cytoplasm. Nucleus. Note=Localizes in the vicinity of cell surface receptors in the plasma membrane after receptor stimulation.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ITK gene
Compartment Confidence
nucleus 5
cytosol 5
plasma membrane 4
cytoskeleton 2
extracellular 1

Gene Ontology (GO) - Cellular Components for ITK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005634 nucleus ISS --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0005911 cell-cell junction IEA --
genes like me logo Genes that share ontologies with ITK: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ITK Gene

Pathways & Interactions for ITK Gene

genes like me logo Genes that share pathways with ITK: view

SIGNOR curated interactions for ITK Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for ITK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001816 cytokine production IEA,ISS --
GO:0001865 NK T cell differentiation IEA,IBA --
GO:0002250 adaptive immune response ISS --
GO:0002376 immune system process IEA --
GO:0006468 protein phosphorylation IEA --
genes like me logo Genes that share ontologies with ITK: view

Drugs & Compounds for ITK Gene

Products:

  1. Drug

(15) Drugs for ITK Gene - From: DrugBank, PharmGKB, FDA Approved Drugs, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Pazopanib Approved Pharma Target, inhibitor VEFGR, c-Kit, and PDGFR inhibitor, Kinase Inhibitors, Vascular endothelial growth factor (VEGF) and VEGF receptor (VEGFR) inhibitors 0
fostamatinib Approved, Investigational Pharma Target, inhibitor Kinase Inhibitors 0
Votrient Approved April 2012/ Approved October of 2009 Pharma 0
Staurosporine Experimental Pharma Neutral, Allosteric regulator, Positive, Target Protein kinase inhibitor,potent and cell permeable 51
ATP Investigational Nutra Agonist, Activator, Full agonist, Antagonist, Potentiation, Pore Blocker 0

(4) Additional Compounds for ITK Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
 Full agonist, Agonist, Partial agonist, Antagonist, Gating inhibitor 58-64-0
genes like me logo Genes that share compounds with ITK: view

Transcripts for ITK Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for ITK Gene

(2) REFSEQ mRNAs :
(9) Additional mRNA sequences :
(36) Selected AceView cDNA sequences:
(10) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for ITK Gene

IL2-inducible T-cell kinase:
Representative Sequences:

Clone Products

  • Addgene plasmids for ITK

Alternative Splicing Database (ASD) splice patterns (SP) for ITK Gene

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: - -
SP6:
SP7: -
SP8: -
SP9:
SP10:

ExUns: 16a · 16b ^ 17a · 17b ^ 18a · 18b ^ 19a · 19b
SP1: -
SP2:
SP3: -
SP4: - -
SP5:
SP6: - -
SP7:
SP8:
SP9:
SP10:

Relevant External Links for ITK Gene

GeneLoc Exon Structure for
ITK
ECgene alternative splicing isoforms for
ITK

Expression for ITK Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ITK Gene

mRNA expression in normal human tissues for ITK Gene
mRNA expression by BioGPS for ITK GenemRNA expression by GTEx for ITK Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ITK Gene

This gene is overexpressed in Whole Blood (x18.7), Spleen (x6.0), and Small Intestine - Terminal Ileum (x5.0).

Protein differential expression in normal tissues from HIPED for ITK Gene

This gene is overexpressed in Peripheral blood mononuclear cells (53.8) and CD8 Tcells (10.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ITK Gene



Protein tissue co-expression partners for ITK Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ITK Gene:

ITK

SOURCE GeneReport for Unigene cluster for ITK Gene:

Hs.558348

mRNA Expression by UniProt/SwissProt for ITK Gene:

Q08881-ITK_HUMAN
Tissue specificity: T-cell lines and natural killer cell lines.

Evidence on tissue expression from TISSUES for ITK Gene

  • Blood(2.7)
  • Lung(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ITK Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • lymphatic
  • nervous
Regions:
Head and neck:
  • brain
  • head
  • mouth
Abdomen:
  • liver
  • spleen
General:
  • blood
  • bone marrow
  • coagulation system
  • lymph node
  • red blood cell
  • white blood cell
genes like me logo Genes that share expression patterns with ITK: view

Orthologs for ITK Gene

This gene was present in the common ancestor of animals.

Orthologs for ITK Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia ITK 34 33
  • 99.3 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia ITK 34 33
  • 90.75 (n)
 OneToOne
cow
(Bos Taurus)
 Mammalia ITK 34 33
  • 90.43 (n)
 OneToOne
oppossum
(Monodelphis domestica)
 Mammalia ITK 34
  • 89 (a)
 OneToOne
mouse
(Mus musculus)
 Mammalia Itk 16 34 33
  • 88.05 (n)
rat
(Rattus norvegicus)
 Mammalia Itk 33
  • 87.69 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia ITK 34
  • 87 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves ITK 34 33
  • 74.66 (n)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia ITK 34
  • 74 (a)
 OneToOne
zebrafish
(Danio rerio)
 Actinopterygii itk 34 33 33
  • 61.8 (n)
 OneToOne
fruit fly
(Drosophila melanogaster)
 Insecta Btk29A 34 35
  • 36 (a)
 OneToMany
worm
(Caenorhabditis elegans)
 Secernentea spe-8 35
  • 31 (a)
F22B3.8 35
  • 29 (a)
kin-24 35
  • 24 (a)
sea squirt
(Ciona savignyi)
 Ascidiacea -- 34
  • 38 (a)
 ManyToMany
Cin.8009 33
sea squirt
(Ciona intestinalis)
 Ascidiacea Cin.8009 33
Species where no ortholog for ITK was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for ITK Gene

ENSEMBL:
Gene Tree for ITK (if available)
TreeFam:
Gene Tree for ITK (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ITK: view image

Paralogs for ITK Gene

Paralogs for ITK Gene

(23) SIMAP similar genes for ITK Gene using alignment to 3 proteins:

  • ITK_HUMAN
  • E5RFR5_HUMAN
  • E5RJY4_HUMAN
genes like me logo Genes that share paralogs with ITK: view

Variants for ITK Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations from dbSNP and Humsavar for ITK Gene

SNP ID Clin Chr 05 pos Variation AA Info Type
rs1033906627 uncertain-significance, Lymphoproliferative syndrome 157,253,342(+) G/A 3_prime_UTR_variant
rs111629533 uncertain-significance, Lymphoproliferative syndrome 157,254,544(+) C/A/T 3_prime_UTR_variant
rs115086689 likely-benign, Lymphoproliferative syndrome 157,253,886(+) G/T 3_prime_UTR_variant
rs116624314 likely-benign, Lymphoproliferative syndrome 157,253,164(+) G/A/T 3_prime_UTR_variant
rs121908191 pathogenic, Lymphoproliferative syndrome 1, Lymphoproliferative syndrome 1 (LPFS1) [MIM:613011] 157,241,663(+) C/T coding_sequence_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for ITK Gene

Variant ID Type Subtype PubMed ID
dgv1662e212 CNV gain 25503493
esv3575892 CNV gain 25503493
esv3575895 CNV gain 25503493
nsv1147442 CNV insertion 26484159

Variation tolerance for ITK Gene

Residual Variation Intolerance Score: 10.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.54; 29.85% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ITK Gene

Human Gene Mutation Database (HGMD)
ITK
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ITK

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ITK Gene

Disorders for ITK Gene

MalaCards: The human disease database

(11) MalaCards diseases for ITK Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search ITK in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ITK_HUMAN
  • Lymphoproliferative syndrome 1 (LPFS1) [MIM:613011]: 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. {ECO:0000269 PubMed:19425169}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for ITK

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with ITK: view

No data available for Genatlas for ITK Gene

Publications for ITK Gene

  1. Identification, cloning, and characterization of a novel human T-cell-specific tyrosine kinase located at the hematopoietin complex on chromosome 5q. (PMID: 8364206) Gibson S … Mills GB (Blood 1993) 2 3 4 22 58
  2. A haplotype in the inducible T-cell tyrosine kinase is a risk factor for seasonal allergic rhinitis. (PMID: 19222422) Benson M … Cardell LO (Allergy 2009) 3 22 44 58
  3. SH2-dependent autophosphorylation within the Tec family kinase Itk. (PMID: 19523959) Joseph RE … Andreotti AH (Journal of molecular biology 2009) 3 4 22 58
  4. Tec kinase Itk forms membrane clusters specifically in the vicinity of recruiting receptors. (PMID: 17060314) Qi Q … August A (The Journal of biological chemistry 2006) 3 4 22 58
  5. 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. (PMID: 16159638) Graves PE … Martinez FD (The Journal of allergy and clinical immunology 2005) 3 22 44 58

Products for ITK Gene

  • Addgene plasmids for ITK

Sources for ITK Gene

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