ITK (IL2 inducible T cell kinase)

Gene

• Entrez ID: 3702
• Gene name: IL2 inducible T cell kinase
• Gene symbol: ITK
• Synonyms: EMT, LPFS1, LYK, PSCTK2
• Chromosome: 5
• Chromosome location: 5q33.3
• 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 R

SNPs

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

miRNA

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

Gene ontology (GO)

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

Other IDs

• MIM: 186973
• HGNC: 6171
• e!Ensembl: 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

• Sequence:

  MNNFILLEEQLIKKSQQKRRTSPSNFKVRFFVLTKASLAYFEDRHGKKRTLKGSIELSRI
  KCVEIVKSDISIPCHYKYPFQVVHDNYLLYVFAPDRESRQRWVLALKEETRNNNSLVPKY
  HPNFWMDGKWRCCSQLEKLATGCAQYDPTKNASKKPLPPTPEDNRRPLWEPEETVVIALY
  DYQTNDPQELALRRNEEYCLLDSSEIHWWRVQDRNGHEGYVPSSYLVEKSPNNLETYEWY
  NKSISRDKAEKLLLDTGKEGAFMVRDSRTAGTYTVSVFTKAVVSENNPCIKHYHIKETND
  NPKRYYVAEKYVFDSIPLLINYHQHNGGGLVTRLRYPVCFGRQKAPVTAGLRYGKWVIDP
  SELTFVQEIGSGQFGLVHLGYWLNKDKVAIKTIREGAMSEEDFIEEAEVMMKLSHPKLVQ
  LYGVCLEQAPICLVFEFMEHGCLSDYLRTQRGLFAAETLLGMCLDVCEGMAYLEEACVIH
  RDLAARNCLVGENQVIKVSDFGMTRFVLDDQYTSSTGTKFPVKWASPEVFSFSRYSSKSD
  VWSFGVLMWEVFSEGKIPYENRSNSEVVEDISTGFRLYKPRLASTHVYQIMNHCWKERPE
  DRPAFSRLLRQLAEIAESGL

• Sequence length: 620

Pathways

KEGG:

Chemokine signaling pathway
T cell receptor signaling pathway
Leukocyte transendothelial migration

Reactome:

Generation of second messenger molecules
FCERI mediated Ca+2 mobilization

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Anemia	Anemia	rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966, rs137853122, rs137853123, rs786205060, rs267607121, rs121908584, rs80338697, rs80338699, rs120074166, rs120074167, rs1050828, rs74575103, rs137852314, rs5030868, rs137852316, rs137852317, rs137852318, rs137852319, rs137852320, rs137852321, rs137852322, rs137852323, rs137852324, rs72554665, rs387906468, rs5030872, rs137852326, rs137852333, rs137852327, rs137852328, rs137852329, rs137852330, rs137852331, rs137852332, rs137852334, rs137852335, rs137852336, rs137852339, rs76645461, rs137852340, rs137852341, rs78478128, rs137852343, rs137852344, rs137852345, rs587776730, rs137852346, rs137852347, rs137852349, rs2070404412, rs2070350038, rs2070350009, rs137852303, rs137852304, rs33946267, rs34378160, rs33933298, rs11549407, rs35724775, rs34598529, rs41469945, rs267607201, rs80338694, rs80338696, rs387907018, rs398123546, rs78365220, rs587777100, rs587777101, rs483352840, rs869312752, rs765487627, rs1557229599, rs1557230040, rs1555524842, rs782090947, rs1358275550, rs1557229736, rs1557230573, rs1556323334, rs1233124208, rs1293528130, rs146864395, rs1595503440, rs1603411214, rs137852325, rs1575247302, rs1603411177, rs1336651679, rs782322505
Gastric cancer	Gastric Adenocarcinoma	rs137854571, rs63751108, rs34612342, rs121908383, rs121909144, rs121909775, rs121909219, rs121909223, rs63750871, rs80359530, rs121964873, rs121913530, rs606231203, rs121918505, rs587776802, rs28933369, rs121912469, rs80358011, rs397507262, rs80359439, rs397507333, rs80359543, rs80358831, rs80359596, rs80358920, rs80358972, rs80359659, rs397507404, rs397514661, rs80359516, rs200495564, rs80358419, rs80359274, rs80359283, rs80358427, rs80358428, rs80358435, rs81002805, rs397507660, rs397507663, rs80359391, rs80359443, rs81002797, rs80359466, rs397507752, rs80359484, rs80359603, rs397507954, rs80359058, rs80359071, rs397507981, rs80359121, rs80357086, rs80357064, rs397508936, rs80357695, rs80357661, rs397509035, rs80357544, rs80357577, rs80357881, rs80357296, rs80356923, rs80356866, rs80357504, rs80357390, rs80357239, rs80358099, rs397509284, rs80357258, rs199474738, rs199474747, rs587779204, rs63750439, rs267608076, rs587779246, rs63749999, rs267608078, rs63751327, rs267607719, rs267607734, rs63750706, rs63751711, rs587779047, rs587779075, rs267607949, rs63750633, rs63750803, rs63751618, rs267608154, rs200640585, rs80358018, rs80357857, rs80357882, rs180177103, rs587779815, rs587779865, rs587779872, rs587780059, rs121912666, rs587780088, rs587780104, rs200432447, rs180177100, rs587780226, rs587780784, rs587776416, rs587781276, rs587781629, rs587781694, rs587781727, rs587781730, rs587781807, rs587781894, rs587781948, rs121913344, rs587782292, rs587782350, rs587782558, rs587782719, rs587782885, rs587783057, rs730881833, rs730881411, rs730881336, rs139770721, rs730881869, rs730881633, rs730882007, rs786203115, rs765123255, rs1553333738, rs762083530, rs786202800, rs17174393, rs55996097, rs750621215, rs786203451, rs747604569, rs764389018, rs786204433, rs786204862, rs772821016, rs779582317, rs863225406, rs193922343, rs759965045, rs63749919, rs760228510, rs746481984, rs762307622, rs876659736, rs876660933, rs747727055, rs1450394308, rs876658348, rs876658431, rs876659326, rs876660444, rs730881369, rs878853865, rs753862052, rs587780024, rs138941496, rs886040739, rs886040744, rs886040347, rs878854957, rs886040123, rs398122662, rs886040942, rs1057517104, rs1057516320, rs1057516683, rs879254046, rs1057517253, rs587781927, rs985033810, rs1057519989, rs775464903, rs374230313, rs758304323, rs1060501599, rs758081262, rs1060500126, rs1060502734, rs587776408, rs1060501695, rs1114167816, rs1114167596, rs1114167667, rs1555460315, rs1135402788, rs1554086196, rs730881919, rs773356478, rs769237459, rs1553653158, rs587782087, rs1555107263, rs1555119940, rs1403784434, rs1342519012, rs751710099, rs1553616361, rs1553619721, rs1270783041, rs775036118, rs1555288557, rs1555460548, rs1555461154, rs1298667185, rs1553622218, rs63751101, rs1349928568, rs771936821, rs1021662947, rs1555921011, rs81002831, rs1555124506, rs1555574803, rs1060502716, rs1555605362, rs747057367, rs1565385010, rs1567554500, rs1567516230, rs1558644995, rs1555591308, rs778306619, rs1566231194, rs1603328466, rs1570406302, rs1586108714, rs768362387, rs1597713777, rs1060502926, rs1597867185, rs1591517571, rs1591663236, rs1593903006, rs1555284779, rs1597096243, rs45459799, rs1597360340, rs587781905, rs864622481, rs1601753141, rs1966858562, rs1966967065, rs1967016153, rs1967113484, rs2080473458, rs1591387978, rs1224428422, rs1597747184, rs2082309297, rs2051929740, rs147542208
Hypothyroidism	Hypothyroidism	rs869320723, rs121908862, rs121908863, rs121908865, rs121908866, rs121908867, rs121908870, rs121908871, rs121908872, rs2140110277, rs121908881, rs121908884, rs121908885, rs786205080, rs1586182912, rs121917847, rs104893655, rs104893657, rs104893658, rs104893659, rs104893660, rs104893656, rs121917719, rs786204790, rs189261858, rs879255608, rs868197660, rs879255609, rs1586744173, rs1586182837, rs771222349, rs1587618417, rs1601844140, rs760832986, rs780982673, rs1603336347, rs1691155605	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, rs786200884, rs397515357, rs104894562, rs137852624, rs137852625, rs137852626, rs137852627, rs137852507, rs137852509, rs111033619, rs111033620, rs1569480018, rs111033621, rs137852510, rs587776729, rs111033622, rs111033617, rs111033618, rs121917894, rs121917896, rs2133313409, rs121917897, rs28933392, rs104894282, rs104894283, rs104894285, rs121918570, rs121918572, rs730880318, rs104893674, rs730880319, rs104894453, rs104894454, rs104894451, rs137853206, rs777503956, rs267606645, rs267606648, rs397515390, rs193922346, rs193922347, rs193922348, rs193922349, rs193922350, rs137852508, rs193922640, rs193922641, rs193922643, rs193922645, rs193922361, rs193922364, rs193922464, rs148508754, rs193922574, rs113994174, rs606231246, rs397514671, rs397514686, rs397514755, rs199474679, rs199474685, rs199474686, rs199474681, rs150739647, rs267605358, rs886041036, rs587777335, rs587778405, rs145092287, rs587777562, rs606231256, rs200296680, rs786205456, rs786205517, rs774202259, rs786205615, rs878853261, rs786205890, rs782753385, rs746052951, rs869025224, rs869312857, rs869320660, rs869320659, rs869320658, rs879253742, rs886037924, rs886037925, rs750610248, rs886039394, rs761242509, rs886039387, rs886041043, rs886041044, rs886042051, rs886041333, rs749481781, rs1057517747, rs1057519506, rs1057523762, rs1057521062, rs1057520644, rs761583890, rs751635016, rs55729925, rs1064793248, rs1064793347, rs1064794027, rs781410769, rs1555524788, rs1486760100, rs769633203, rs1556330713, rs1555322558, rs1556330234, rs1556330755, rs1556329779, rs1556330552, rs1556329822, rs1556330286, rs1556331272, rs2146178281, rs376610445, rs757797994, rs775704953, rs1555743321, rs1564995660, rs1564995662, rs1556330249, rs144104577, rs886041796, rs1026474882, rs570768621, rs1556330562, rs1556330568, rs780014431, rs778343059, rs1555844617, rs1567629968, rs1567628757, rs1567629943, rs1567632864, rs1567632829, rs1567626023, rs1559328006, rs1561423197, rs1452483770, rs1568400897, rs1569479913, rs1568404443, rs1569480047, rs1563340753, rs368303189, rs1568431262, rs1568431102, rs1561424886, rs1602289943, rs1241698978, rs1569479994, rs1569480082, rs1602289649, rs1573261820, rs770985198, rs1589050343, rs1340132582, rs1589064324, rs1589070600, rs1213680890, rs149316157, rs1599873591, rs755706305, rs1602288051, rs1602289411, rs1602289183, rs1583513256, rs1589136659, rs1380154594, rs1011307501, rs1599876167, rs1569967422, rs1602289631, rs1573262398, rs760191638, rs1592117677, rs1640406042, rs372597855, rs1839558393, rs1839622622, rs1839957089, rs777008519, rs1233957241, rs2092261618, rs1839255008, rs1677695565, rs936493226, rs1162344514, rs991089005	21109689

Unknown
Disease name	Disease term	dbSNP ID	References
Aphthous ulcer	Recurrent aphthous ulcer
Hodgkin disease	Hodgkin Disease
Lymphoproliferative syndrome	ITK Deficiency		21109689
Metastatic melanoma	Metastatic melanoma
Respiratory tract diseases	Respiratory Tract Diseases		30595370
Stomatitis	Stomatitis