Gene Report

Basic information

Related studies

Functional annotation

Related other genetic factors

Overlap with SZ and MDD

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Basic Info

Approved Symbol	ITK
Symbol Alias	EMT, PSCTK2, LYK
Approved Name	IL2-inducible T-cell kinase
Location	5q31-q32
Position	chr5:157142933-157255191, 1
External Links	HGNC: 6171 Entrez Gene: 3702 Ensembl: ENSG00000113263 UCSC: uc003lwo.1
No. of Studies	1 (Positive: 1; Negative: 0; trend: 0)
Overlap with SZ?	NO
Overlap with MDD?	NO

Gene related studies (count: 1)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Kerner, B.,2009	SNP: rs452223	Only a small number of families had been informative for those SNPs in the individual data sets, therefore the analysis of all families combined increased the evidence for those loci.	Positive	Comment on Study

Gene functional annotation

Gene related GO terms (count: 25)

GO terms by PBA (count: 2)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0045087	innate immune response	biological process	IBA; TAS	49
GO:0005102	receptor binding	molecular function	IBA	37

GO terms by database search (count: 23)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0046872	metal ion binding	molecular function	IEA	115
GO:0031234	extrinsic component of cytoplasmic side of plasma membrane	cellular component	IBA	6
GO:0005524	ATP binding	molecular function	IEA	118
GO:0050853	B cell receptor signaling pathway	biological process	IBA	4
GO:0004715	non-membrane spanning protein tyrosine kinase activity	molecular function	IDA[12186560]	4
GO:0042127	regulation of cell proliferation	biological process	IBA	14
GO:0007165	signal transduction	biological process	TAS[8364206]	136
GO:0005515	protein binding	molecular function	IPI[12186560]	563
GO:0007202	activation of phospholipase C activity	biological process	ISS	15
GO:0038083	peptidyl-tyrosine autophosphorylation	biological process	IBA	4
GO:0005911	cell-cell junction	cellular component	IEA	16
GO:0005829	cytosol	cellular component	TAS	223
GO:0001865	NK T cell differentiation	biological process	IBA	1
GO:0007169	transmembrane receptor protein tyrosine kinase signaling pathway	biological process	IBA	16
GO:0038095	Fc-epsilon receptor signaling pathway	biological process	TAS	19
GO:0001816	cytokine production	biological process	ISS	4
GO:0002250	adaptive immune response	biological process	IBA; ISS	5
GO:0050852	T cell receptor signaling pathway	biological process	IBA; ISS; TAS	9
GO:0032609	interferon-gamma production	biological process	IEA	2
GO:0035556	intracellular signal transduction	biological process	IEA	38
GO:0042110	T cell activation	biological process	TAS[12186560]	9
GO:0032633	interleukin-4 production	biological process	IEA	1
GO:0006968	cellular defense response	biological process	TAS[8364206]	4

Gene related KEGG pathways (count: 2)

KEGG pathways by PBA (count: 0)

KEGG pathways by database search (count: 2)

ID	Name	No. of Genes in BDgene	Brief Description
hsa04670	Leukocyte transendothelial migration	13
hsa04660	T cell receptor signaling pathway	13

Gene related BioCarta pathways (count: 1)

BioCarta pathways by PBA (count: 0)

BioCarta pathways by database search (count: 1)

ID	Name	No. of Genes in BDgene	Brief Description
ctla4Pathway	The Co-Stimulatory Signal During T-cell Activation	3

Gene related interactors from protein-protein interactions data in HPRD (count: 20)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
ITK	PPIA	NO	in vivo	11830645
ITK	BTK	NO	in vitro;in vivo	12445832 , 8630736 , 11598012 , 8629002 , 12573241
ITK	BLNK	NO	in vitro	10556826
ITK	TGFBR1	NO	in vivo	15761153
ITK	KHDRBS1	NO	in vitro;in vivo	8810341 , 8985255
ITK	LAT	NO	in vitro;in vivo	10506192 , 12186560
ITK	GRB2	NO	in vitro;in vivo	10636929
ITK	WAS	NO	in vitro;in vivo	8810341
ITK	PLCG2	YES	in vitro	15184383
ITK	KPNA2	NO	in vitro;in vivo	11581171
ITK	LCK	NO	in vitro;in vivo	9312162 , 15144186
ITK	CD28	NO	in vitro;in vivo	10586033 , 8992971 , 15144186
ITK	PLCG1	YES	in vitro;in vivo	12163161 , 10586033
ITK	BMX	NO	in vitro	12573241
ITK	LCP2	NO	in vitro;in vivo	10636929 , 10556826
ITK	SMAD4	NO	in vivo	15761153
ITK	SH2D2A	NO	yeast 2-hybrid	10587356
ITK	HNRNPK	NO	in vitro	8810341
ITK	SOCS1	NO	in vitro	10022833
ITK	CBL	NO	in vitro;in vivo	8810341

Related other genetic factors

Gene related SNPs (count: 1)

Literature-origin SNPs (count: 1)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs452223	chr5:157184482 - 157184482(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant	1(1/0/0)

LD-proxies (count: 0)

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 5)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
Chr 5	chr5:0-181538259	3 (0/2/1)
5q31-q33	chr5:131200000-160500000	1 (1/0/0)
5q32-5q33.3	chr5:145100000-160500000	1 (0/1/0)
5q33	chr5:150400000-160500000	2 (0/1/1)
5q33-34	chr5:150400000-169000000	1 (1/0/0)

Overlap with schizophrenia (SZ) and major depressive disorder (MDD)

Gene relationship with SZ

Gene relationship with MDD

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Region: chr5:157142933..157255191 View in gBrowse