ITK IL2 inducible T cell kinase [Homo sapiens (human)] - Gene

Summary

Official Symbol: ITKprovided by HGNC
Official Full Name: IL2 inducible T cell kinaseprovided by HGNC
Primary source: HGNC:HGNC:6171
See related: Ensembl:ENSG00000113263 MIM:186973; AllianceGenome:HGNC:6171
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: EMT; LYK; LPFS1; PSCTK2
Summary: 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]
Expression: Biased expression in lymph node (RPKM 23.9), appendix (RPKM 14.7) and 9 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 5q33.3

Exon count:: 17

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (157180840..157255185)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (157699782..157774113)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (156607851..156682195)

Chromosome 5 - NC_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Targeting kinase ITK treats autoimmune arthritis via orchestrating T cell differentiation and function.
Title: Targeting kinase ITK treats autoimmune arthritis via orchestrating T cell differentiation and function.
Inherited human ITK deficiency impairs IFN-gamma immunity and underlies tuberculosis.
Title: Inherited human ITK deficiency impairs IFN-γ immunity and underlies tuberculosis.
ITK independent development of Th17 responses during hypersensitivity pneumonitis driven lung inflammation.
Title: ITK independent development of Th17 responses during hypersensitivity pneumonitis driven lung inflammation.
SUFU mediates EMT and Wnt/beta-catenin signaling pathway activation promoted by miRNA-324-5p in human gastric cancer.
Title: SUFU mediates EMT and Wnt/β-catenin signaling pathway activation promoted by miRNA-324-5p in human gastric cancer.
Interleukin-2 inducible T-cell kinase: a potential prognostic biomarker and tumor microenvironment remodeling indicator for hepatocellular carcinoma.
Title: Interleukin-2 inducible T-cell kinase: a potential prognostic biomarker and tumor microenvironment remodeling indicator for hepatocellular carcinoma.
Cytotoxic lymphocytes-related gene ITK from a systematic CRISPR screen could predict prognosis of ovarian cancer patients with distant metastasis.
Title: Cytotoxic lymphocytes-related gene ITK from a systematic CRISPR screen could predict prognosis of ovarian cancer patients with distant metastasis.
Itk Promotes the Integration of TCR and CD28 Costimulation through Its Direct Substrates SLP-76 and Gads.
Title: Itk Promotes the Integration of TCR and CD28 Costimulation through Its Direct Substrates SLP-76 and Gads.
ITK deficiency presenting as autoimmune lymphoproliferative syndrome.
Title: ITK deficiency presenting as autoimmune lymphoproliferative syndrome.
BTK/ITK dual inhibitors: Modulating immunopathology and lymphopenia for COVID-19 therapy.
Title: BTK/ITK dual inhibitors: Modulating immunopathology and lymphopenia for COVID-19 therapy.
Loss of function in ITK can result in broad dysregulation of T-cell responses to oncogenic viruses, including beta-human papillomavirus and Epstein-Barr virus.
Title: Inherited Interleukin 2-Inducible T-Cell (ITK) Kinase Deficiency in Siblings With Epidermodysplasia Verruciformis and Hodgkin Lymphoma.

Submit: New GeneRIF Correction See all GeneRIFs (58)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Lymphoproliferative syndrome 1 MedGen: C3552634 OMIM: 613011 GeneReviews: Not available	not available

EBI GWAS Catalog

Description
Genome-wide association study of personality traits in bipolar patients. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	env	Inducible T-cell kinase (ITK) affects viral entry and gp120-induced actin reorganization, but does not affect HIV-1 reverse transcription or proviral DNA integration	PubMed
Nef	nef	HIV-1 Nef alleles from representative M-group HIV-1 subtypes can interact with ITK. Selective ITK inhibitor blocks HIV-1 infectivity and replication in a Nef-dependent manner	PubMed
	nef	A cell-based bimolecular fluorescence complementation assay demonstrates that HIV-1 Nef interacts with the Tec family members Bmx, Btk, and Itk, but not with Tec or Txk in 293T cells	PubMed
Pr55(Gag)	gag	Tec kinase chemical inhibitors diminish the recruitment of ITK to the plasma membrane perturbing HIV-1 Gag-ITK co-localization, disrupting F-actin polymerization, and inhibiting HIV-1 release and replication	PubMed
	gag	HIV-1 Gag, ITK, and F-actin are located in overlapping and discrete regions of T cell-T cell contact sites	PubMed
	gag	HIV-1 Gag and ITK are present at regions that contain cholera toxin B in HIV-1 infected T cells, indicating that Gag and ITK co-localize in lipid raft microdomains	PubMed
	gag	HIV-1 Gag co-localizes with IL2-inducible T-cell kinase (ITK) at the plasma membrane of transfected HEK293T cells and HIV-1 infected T cells	PubMed
	gag	ITK is required for efficient transcription from the HIV-1 LTR, induces a modest increase in Gag expression, and enhances virion production	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G35510 (e-PCR)
- UniSTS:44150

RH68205 (e-PCR)
- UniSTS:27516

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables histone H2AXY142 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H3Y41 kinase activity	IEA Inferred from Electronic Annotation more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables non-membrane spanning protein tyrosine kinase activity	IBA Inferred from Biological aspect of Ancestor more info
enables non-membrane spanning protein tyrosine kinase activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in B cell receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in NK T cell differentiation	IBA Inferred from Biological aspect of Ancestor more info
involved_in T cell activation	TAS Traceable Author Statement more info	PubMed
involved_in T cell receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in T cell receptor signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in adaptive immune response	IBA Inferred from Biological aspect of Ancestor more info
involved_in adaptive immune response	ISS Inferred from Sequence or Structural Similarity more info
involved_in cellular defense response	TAS Traceable Author Statement more info	PubMed
involved_in chromatin remodeling	IEA Inferred from Electronic Annotation more info
involved_in gamma-delta T cell activation	ISS Inferred from Sequence or Structural Similarity more info
involved_in intracellular signal transduction	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of cytokine production	ISS Inferred from Sequence or Structural Similarity more info
involved_in signal transduction	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in cell-cell junction	IEA Inferred from Electronic Annotation more info
located_in cytosol	IDA Inferred from Direct Assay more info
located_in cytosol	TAS Traceable Author Statement more info
located_in nucleus	ISS Inferred from Sequence or Structural Similarity more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: tyrosine-protein kinase ITK/TSK

Names: IL-2-inducible T-cell kinase; T-cell-specific kinase; homolog of mouse T-cell itk/tsk; interleukin-2-inducible T-cell kinase; kinase EMT; tyrosine-protein kinase LYK

NP_005537.3

EC 2.7.10.2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_016276.1 RefSeqGene

Range

5001..79203

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_189

mRNA and Protein(s)

NM_005546.4 → NP_005537.3 tyrosine-protein kinase ITK/TSK

See identical proteins and their annotated locations for NP_005537.3

Status: REVIEWED

Source sequence(s)

AC010609, BX538196, D13720, DB150488

Consensus CDS

CCDS4336.1

UniProtKB/Swiss-Prot

B2R752, Q08881, Q32ML7

Related

ENSP00000398655.4, ENST00000422843.8

Conserved Domains (4) summary

cd05112
Location:358 → 613

PTKc_Itk; Catalytic domain of the Protein Tyrosine Kinase, Interleukin-2-inducible T-cell Kinase

cd10396
Location:232 → 340

SH2_Tec_Itk; Src homology 2 (SH2) domain found in Tec protein, IL2-inducible T-cell kinase (Itk)

cd11908
Location:174 → 229

SH3_ITK; Src Homology 3 domain of Interleukin-2-inducible T-cell Kinase

cd01238
Location:7 → 148

PH_Btk; Bruton's tyrosine kinase pleckstrin homology (PH) domain