Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	3702
Gene name Gene Name - the full gene name approved by the HGNC.	IL2 inducible T cell kinase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	ITK
Synonyms (NCBI Gene) Gene synonyms aliases	EMT, LPFS1, LYK, PSCTK2
Disease Acronyms (UniProt) Disease acronyms from UniProt database	LPFS1
Chromosome Chromosome number	5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	5q33.3
Summary Summary of gene provided in NCBI Entrez 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 R

Show/Hide all(4)

SNP ID	Visualize variation	Clinical significance	Consequence
rs121908191	C>T	Pathogenic	Coding sequence variant, missense variant
rs397514260	C>G	Pathogenic	Coding sequence variant, stop gained
rs397514261	G>A	Pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs1554102738	T>-	Pathogenic	Coding sequence variant, frameshift variant

Show/Hide all(89)

miRTarBase ID	miRNA	Experiments	Reference
MIRT054291	hsa-miR-155-5p	qRT-PCR	22785227
MIRT643721	hsa-miR-21-3p	HITS-CLIP	23824327
MIRT643720	hsa-miR-3591-3p	HITS-CLIP	23824327
MIRT643719	hsa-miR-3074-3p	HITS-CLIP	23824327
MIRT643717	hsa-miR-5196-3p	HITS-CLIP	23824327
MIRT643718	hsa-miR-3183	HITS-CLIP	23824327
MIRT643716	hsa-miR-4723-3p	HITS-CLIP	23824327
MIRT643715	hsa-miR-6769b-3p	HITS-CLIP	23824327
MIRT643714	hsa-miR-7111-3p	HITS-CLIP	23824327
MIRT643713	hsa-miR-6083	HITS-CLIP	23824327
MIRT054291	hsa-miR-155-5p	RNA-seq	33235280
MIRT643721	hsa-miR-21-3p	HITS-CLIP	23824327
MIRT643720	hsa-miR-3591-3p	HITS-CLIP	23824327
MIRT643719	hsa-miR-3074-3p	HITS-CLIP	23824327
MIRT643717	hsa-miR-5196-3p	HITS-CLIP	23824327
MIRT643718	hsa-miR-3183	HITS-CLIP	23824327
MIRT643716	hsa-miR-4723-3p	HITS-CLIP	23824327
MIRT643715	hsa-miR-6769b-3p	HITS-CLIP	23824327
MIRT643714	hsa-miR-7111-3p	HITS-CLIP	23824327
MIRT643713	hsa-miR-6083	HITS-CLIP	23824327
MIRT1074447	hsa-let-7a	CLIP-seq
MIRT1074448	hsa-let-7b	CLIP-seq
MIRT1074449	hsa-let-7c	CLIP-seq
MIRT1074450	hsa-let-7d	CLIP-seq
MIRT1074451	hsa-let-7e	CLIP-seq
MIRT1074452	hsa-let-7f	CLIP-seq
MIRT1074453	hsa-let-7g	CLIP-seq
MIRT1074454	hsa-let-7i	CLIP-seq
MIRT1074455	hsa-miR-103a	CLIP-seq
MIRT1074456	hsa-miR-107	CLIP-seq
MIRT1074457	hsa-miR-1224-5p	CLIP-seq
MIRT1074458	hsa-miR-1261	CLIP-seq
MIRT1074459	hsa-miR-134	CLIP-seq
MIRT1074460	hsa-miR-15a	CLIP-seq
MIRT1074461	hsa-miR-15b	CLIP-seq
MIRT1074462	hsa-miR-16	CLIP-seq
MIRT1074463	hsa-miR-185	CLIP-seq
MIRT1074464	hsa-miR-193a-3p	CLIP-seq
MIRT1074465	hsa-miR-193b	CLIP-seq
MIRT1074466	hsa-miR-195	CLIP-seq
MIRT1074467	hsa-miR-2277-3p	CLIP-seq
MIRT1074468	hsa-miR-3118	CLIP-seq
MIRT1074469	hsa-miR-3119	CLIP-seq
MIRT1074470	hsa-miR-3120-3p	CLIP-seq
MIRT1074471	hsa-miR-3149	CLIP-seq
MIRT1074472	hsa-miR-320e	CLIP-seq
MIRT1074473	hsa-miR-3660	CLIP-seq
MIRT1074474	hsa-miR-3915	CLIP-seq
MIRT1074475	hsa-miR-424	CLIP-seq
MIRT1074476	hsa-miR-4274	CLIP-seq
MIRT1074477	hsa-miR-4287	CLIP-seq
MIRT1074478	hsa-miR-4306	CLIP-seq
MIRT1074479	hsa-miR-4428	CLIP-seq
MIRT1074480	hsa-miR-4458	CLIP-seq
MIRT1074481	hsa-miR-4477b	CLIP-seq
MIRT1074482	hsa-miR-4500	CLIP-seq
MIRT1074483	hsa-miR-4519	CLIP-seq
MIRT1074484	hsa-miR-4524	CLIP-seq
MIRT1074485	hsa-miR-4526	CLIP-seq
MIRT1074486	hsa-miR-4643	CLIP-seq
MIRT1074487	hsa-miR-4644	CLIP-seq
MIRT1074488	hsa-miR-466	CLIP-seq
MIRT1074489	hsa-miR-4661-3p	CLIP-seq
MIRT1074490	hsa-miR-4685-3p	CLIP-seq
MIRT1074491	hsa-miR-4689	CLIP-seq
MIRT1074492	hsa-miR-4704-5p	CLIP-seq
MIRT1074493	hsa-miR-4733-5p	CLIP-seq
MIRT1074494	hsa-miR-4756-3p	CLIP-seq
MIRT1074495	hsa-miR-4775	CLIP-seq
MIRT1074496	hsa-miR-4789-3p	CLIP-seq
MIRT1074497	hsa-miR-497	CLIP-seq
MIRT1074498	hsa-miR-503	CLIP-seq
MIRT1074499	hsa-miR-582-5p	CLIP-seq
MIRT1074500	hsa-miR-587	CLIP-seq
MIRT1074501	hsa-miR-590-3p	CLIP-seq
MIRT1074502	hsa-miR-646	CLIP-seq
MIRT1074503	hsa-miR-892b	CLIP-seq
MIRT1074504	hsa-miR-943	CLIP-seq
MIRT1074505	hsa-miR-98	CLIP-seq
MIRT2018403	hsa-miR-3185	CLIP-seq
MIRT2018404	hsa-miR-3689d	CLIP-seq
MIRT2018405	hsa-miR-4436b-3p	CLIP-seq
MIRT2018406	hsa-miR-4459	CLIP-seq
MIRT2018407	hsa-miR-4733-3p	CLIP-seq
MIRT2018408	hsa-miR-4761-3p	CLIP-seq
MIRT2018409	hsa-miR-665	CLIP-seq
MIRT2250280	hsa-miR-140-3p	CLIP-seq
MIRT2250281	hsa-miR-3545-5p	CLIP-seq
MIRT1074494	hsa-miR-4756-3p	CLIP-seq

Show/Hide all(27)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001816	Process	Cytokine production	ISS
GO:0001865	Process	NK T cell differentiation	IBA	21873635
GO:0002250	Process	Adaptive immune response	IBA	21873635
GO:0002250	Process	Adaptive immune response	ISS
GO:0004713	Function	Protein tyrosine kinase activity	IBA	21873635
GO:0004715	Function	Non-membrane spanning protein tyrosine kinase activity	IBA	21873635
GO:0004715	Function	Non-membrane spanning protein tyrosine kinase activity	IDA	12186560
GO:0005515	Function	Protein binding	IPI	8892607, 12186560, 16273093, 17420479, 18443296, 19807924, 21725281, 22939624, 28514442, 31585087
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	ISS
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IDA
GO:0005911	Component	Cell-cell junction	IEA
GO:0006968	Process	Cellular defense response	TAS	8364206
GO:0007165	Process	Signal transduction	TAS	8364206
GO:0007202	Process	Activation of phospholipase C activity	ISS
GO:0035556	Process	Intracellular signal transduction	IEA
GO:0038083	Process	Peptidyl-tyrosine autophosphorylation	IBA	21873635
GO:0038095	Process	Fc-epsilon receptor signaling pathway	TAS
GO:0042110	Process	T cell activation	TAS	12186560
GO:0046629	Process	Gamma-delta T cell activation	ISS
GO:0046872	Function	Metal ion binding	IEA
GO:0050852	Process	T cell receptor signaling pathway	IBA	21873635
GO:0050852	Process	T cell receptor signaling pathway	ISS
GO:0050852	Process	T cell receptor signaling pathway	TAS
GO:0050853	Process	B cell receptor signaling pathway	IBA	21873635

MIM	HGNC	e!Ensembl
186973	6171	ENSG00000113263

Protein

UniProt ID

Q08881

Protein 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)

Protein 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) activa

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

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00169	PH	5 → 111	PH domain	Domain
PF00779	BTK	119 → 148	BTK motif	Motif
PF00018	SH3_1	177 → 223	SH3 domain	Domain
PF00017	SH2	239 → 323	SH2 domain	Domain
PF07714	PK_Tyr_Ser-Thr	363 → 612	Protein tyrosine and serine/threonine kinase	Domain

Tissue specificity

TISSUE SPECIFICITY: T-cell lines and natural killer cell lines.

Sequence

MNNFILLEEQLIKKSQQKRRTSPSNFKVRFFVLTKASLAYFEDRHGKKRTLKGSIELSRI
KCVEIVKSDISIPCHYKYPFQVVHDNYLLYVFAPDRESRQRWVLALKEETRNNNSLVPKY
HPNFWMDGKWRCCSQLEKLATGCAQYDPTKNASKKPLPPTPEDNRRPLWEPEETVVIALY
DYQTNDPQELALRRNEEYCLLDSSEIHWWRVQDRNGHEGYVPSSYLVEKSPNNLETYEWY
NKSISRDKAEKLLLDTGKEGAFMVRDSRTAGTYTVSVFTKAVVSENNPCIKHYHIKETND
NPKRYYVAEKYVFDSIPLLINYHQHNGGGLVTRLRYPVCFGRQKAPVTAGLRYGKWVIDP
SELTFVQEIGSGQFGLVHLGYWLNKDKVAIKTIREGAMSEEDFIEEAEVMMKLSHPKLVQ
LYGVCLEQAPICLVFEFMEHGCLSDYLRTQRGLFAAETLLGMCLDVCEGMAYLEEACVIH
RDLAARNCLVGENQVIKVSDFGMTRFVLDDQYTSSTGTKFPVKWASPEVFSFSRYSSKSD
VWSFGVLMWEVFSEGKIPYENRSNSEVVEDISTGFRLYKPRLASTHVYQIMNHCWKERPE
DRPAFSRLLRQLAEIAESGL

Sequence length

620

Interactions

View interactions

	KEGG		Reactome
	Chemokine signaling pathway T cell receptor signaling pathway Leukocyte transendothelial migration		Generation of second messenger molecules FCERI mediated Ca+2 mobilization

Show/Hide Causal Diseases (7)

Disease term	Disease name	dbSNP ID	References
Causal
Anemia	Anemia	rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966 View all (89 more)
Gastric cancer	Gastric Adenocarcinoma	rs137854571, rs63751108, rs34612342, rs121908383, rs121909144, rs121909775, rs121909219, rs121909223, rs63750871, rs80359530, rs121964873, rs121913530, rs606231203, rs121918505, rs587776802 View all (244 more)
Hypothyroidism	Hypothyroidism	rs869320723, rs121908862, rs121908863, rs121908865, rs121908866, rs121908867, rs121908870, rs121908871, rs121908872, rs2140110277, rs121908881, rs121908884, rs121908885, rs786205080, rs1586182912 View all (22 more)	30595370
Lymphoma	Lymphoma	rs11540652, rs1592119138, rs1592123162, rs1599367044
Lymphoproliferative disorder	Combined immunodeficiency due to ITK deficiency, LYMPHOPROLIFERATIVE SYNDROME 1	rs121908191, rs398122933, rs397514667, rs397514260, rs397514261, rs748418658, rs781593353	26056787, 21109689, 19425169, 25061172, 22487848, 9311799, 22289921
Pancytopenia	Pancytopenia	rs869312883, rs770551610, rs1131690788, rs530073586, rs374333820
Severe combined immunodeficiency disease	Combined immunodeficiency	rs886037607, rs118203993, rs121908714, rs121908739, rs121908740, rs121908735, rs121908721, rs121908722, rs121908156, rs1564414523, rs1564418254, rs1564446526, rs786205074, rs121908157, rs121908159 View all (197 more)	21109689

Show/Hide Unknown Diseases (3)

Disease term	Disease name	Source
Unknown
Asthma	Asthma	GWAS
Multiple Sclerosis	Multiple Sclerosis	GWAS
Dermatitis	Dermatitis	GWAS

Show/Hide Text Mining Associations (50)

Disease Name	Relationship Type	References
Associations from Text Mining
Adenocarcinoma	Associate	32509861
Anxiety	Associate	21368711
Autoimmune Diseases	Associate	31022269
Breast Neoplasms	Associate	34867821
Bruton type agammaglobulinemia	Associate	10556826
Carcinoma Hepatocellular	Associate	34282055
Cerebral Hemorrhage	Associate	30836997
Cerebral Infarction	Associate	36802116
Congenital disorder of glycosylation type 1L	Inhibit	19425169
Congenital disorder of glycosylation type 1L	Associate	19425169
COVID 19	Associate	35528178
Drug Related Side Effects and Adverse Reactions	Associate	31507602
Epidermodysplasia Verruciformis	Associate	30778533
Epstein Barr Virus Infections	Associate	19425169, 30778533, 31507602
Glucosephosphate Dehydrogenase Deficiency	Associate	35205261
Graves Ophthalmopathy	Associate	35980936
Hepatitis B	Associate	24867713, 30939292
Hepatitis B Chronic	Associate	30939292
HIV Infections	Associate	18443296
Hodgkin Disease	Associate	21109689, 30778533, 39684891
Hypertelorism with esophageal abnormality and hypospadias	Associate	33206327
Hypertension Pulmonary	Associate	37730603
Idiopathic Pulmonary Fibrosis	Associate	24089408
Immune System Diseases	Associate	39684891
Immunologic Deficiency Syndromes	Associate	19425169, 31562900
Inflammation	Associate	34282055, 35980936
Leukemia B Cell	Associate	39684891
Lymphohistiocytosis Hemophagocytic	Associate	21109689, 27209435, 31562900
Lymphoma Follicular	Associate	39684891
Lymphoma T Cell	Associate	25337257, 27780854
Lymphoma T Cell Peripheral	Associate	18401419, 23716562, 25337257, 34147695
Lymphomatoid Granulomatosis	Associate	31507602
Lymphopenia	Associate	39684891
Lymphoproliferative Disorders	Associate	19425169, 21109689, 30778533
Melanoma	Associate	33661190, 34957999
Multiple Organ Failure	Associate	21109689
Mycosis Fungoides	Associate	25779945
Neoplasm Metastasis	Inhibit	34702300
Neoplasms	Stimulate	25337257
Neoplasms	Associate	33661190, 34282055, 37735204, 39684891
Ovarian Neoplasms	Associate	34702300
Pancreatic Neoplasms	Associate	37735204, 37881431
Primary Immunodeficiency Diseases	Associate	21109689, 38644452
Pulmonary Arterial Hypertension	Associate	37730603
Purpura Thrombocytopenic Idiopathic	Associate	39684891
Sarcoidosis	Associate	22984568
Sezary Syndrome	Associate	25779945
T cell immunodeficiency primary	Associate	30778533
Uveomeningoencephalitic Syndrome	Associate	35003060
Warts	Associate	39684891

ITK (IL2 inducible T cell kinase)