• Gene id: 3702

Gene Summary

• Gene Symbol: ITK   Gene   UCSC   Ensembl
• Aliases: EMT, LPFS1, LYK, PSCTK2
• Gene name: IL2 inducible T cell kinase
• Alternate names: tyrosine-protein kinase ITK/TSK, 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,
• Gene location: 5q33.3 (70289508: 70252294)     Exons: 21     NC_000016.10
• Gene summary(Entrez): 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 R
• OMIM: 186973

Protein Summary

• Protein general information: Q08881  
  • Name: Tyrosine protein kinase ITK/TSK (EC 2.7.10.2) (Interleukin 2 inducible T cell kinase) (IL 2 inducible T cell kinase) (Kinase EMT) (T cell specific kinase) (Tyrosine protein kinase Lyk)
  • Length: 620  
  • Mass: 71831
  • Tissue specificity: T-cell lines and natural killer cell lines.
• Sequence:

  MNNFILLEEQLIKKSQQKRRTSPSNFKVRFFVLTKASLAYFEDRHGKKRTLKGSIELSRIKCVEIVKSDISIPCH
  YKYPFQVVHDNYLLYVFAPDRESRQRWVLALKEETRNNNSLVPKYHPNFWMDGKWRCCSQLEKLATGCAQYDPTK
  NASKKPLPPTPEDNRRPLWEPEETVVIALYDYQTNDPQELALRRNEEYCLLDSSEIHWWRVQDRNGHEGYVPSSY
  LVEKSPNNLETYEWYNKSISRDKAEKLLLDTGKEGAFMVRDSRTAGTYTVSVFTKAVVSENNPCIKHYHIKETND
  NPKRYYVAEKYVFDSIPLLINYHQHNGGGLVTRLRYPVCFGRQKAPVTAGLRYGKWVIDPSELTFVQEIGSGQFG
  LVHLGYWLNKDKVAIKTIREGAMSEEDFIEEAEVMMKLSHPKLVQLYGVCLEQAPICLVFEFMEHGCLSDYLRTQ
  RGLFAAETLLGMCLDVCEGMAYLEEACVIHRDLAARNCLVGENQVIKVSDFGMTRFVLDDQYTSSTGTKFPVKWA
  SPEVFSFSRYSSKSDVWSFGVLMWEVFSEGKIPYENRSNSEVVEDISTGFRLYKPRLASTHVYQIMNHCWKERPE
  DRPAFSRLLRQLAEIAESGL

• Structural information:
  • Protein Domains: (4..11-)
    (/note="PH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00145-)
    (171..23-)
    (/note="SH3-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00192-)
    (239..33-)
    (/note="SH2-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00191-)
    (363..-)
  • Interpro: IPR042785  IPR035583  IPR011009  IPR011993  IPR001849   IPR000719  IPR017441  IPR001245  IPR000980  IPR036860  IPR036028  IPR001452  IPR008266  IPR020635  IPR001562  
  • Prosite: PS50003 PS00107 PS50011 PS00109 PS50001 PS50002 PS51113
  • CDD: cd05112 cd11908
  • PDB: 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
  • 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
  • DIP: 29974
  • STRING: ENSP00000398655
• Other Databases: GeneCards:  ITK  Malacards:  ITK

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0050853	B cell receptor signaling pathway	IBA	biological process
GO:0038083	peptidyl-tyrosine autophosphorylation	IBA	biological process
GO:0004715	non-membrane spanning protein tyrosine kinase activity	IBA	molecular function
GO:0050852	T cell receptor signaling pathway	IBA	biological process
GO:0002250	adaptive immune response	IBA	biological process
GO:0001865	NK T cell differentiation	IBA	biological process
GO:0004715	non-membrane spanning protein tyrosine kinase activity	IDA	molecular function
GO:0042110	T cell activation	TAS	biological process
GO:0007202	activation of phospholipase C activity	ISS	biological process
GO:0050852	T cell receptor signaling pathway	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0002250	adaptive immune response	ISS	biological process
GO:0001816	cytokine production	ISS	biological process
GO:0005634	nucleus	ISS	cellular component
GO:0004713	protein tyrosine kinase activity	IEA	molecular function
GO:0004715	non-membrane spanning protein tyrosine kinase activity	IEA	molecular function
GO:0004672	protein kinase activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0006468	protein phosphorylation	IEA	biological process
GO:0035556	intracellular signal transduction	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0002376	immune system process	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0004713	protein tyrosine kinase activity	IEA	molecular function
GO:0016301	kinase activity	IEA	molecular function
GO:0016310	phosphorylation	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0002250	adaptive immune response	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0004715	non-membrane spanning protein tyrosine kinase activity	TAS	molecular function
GO:0006968	cellular defense response	TAS	biological process
GO:0007165	signal transduction	TAS	biological process
GO:0004715	non-membrane spanning protein tyrosine kinase activity	IEA	molecular function
GO:0050852	T cell receptor signaling pathway	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0038095	Fc-epsilon receptor signaling pathway	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005911	cell-cell junction	IEA	cellular component
GO:0007202	activation of phospholipase C activity	IEA	biological process
GO:0032609	interferon-gamma production	IEA	biological process
GO:0032633	interleukin-4 production	IEA	biological process
GO:0046629	gamma-delta T cell activation	IEA	biological process
GO:0001816	cytokine production	IEA	biological process
GO:0001865	NK T cell differentiation	IEA	biological process
GO:0002250	adaptive immune response	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0006468	protein phosphorylation	IEA	biological process
GO:0050852	T cell receptor signaling pathway	IEA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0046629	gamma-delta T cell activation	ISS	biological process

KEGG pathways

Pathway id	Pathway name
hsa04062	Chemokine signaling pathway
hsa04670	Leukocyte transendothelial migration
hsa04660	T cell receptor signaling pathway

Diseases

Associated diseases	References
Other well-defined immunodeficiency syndromes	KEGG:H00107
Lymphoproliferative syndrome 1	KEGG:H01970
Other well-defined immunodeficiency syndromes	KEGG:H00107
Lymphoproliferative syndrome 1	KEGG:H01970
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq