CleftGeneDB-Search

Gene: ILK

Basic information

Tag	Content
Uniprot ID	A0A0A0MTH3
Entrez ID
Genbank protein ID
Genbank nucleotide ID
Ensembl protein ID	ENSP00000439606
Ensembl nucleotide ID	ENSG00000166333
Gene name	Integrin-linked protein kinase
Gene symbol	ILK
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description
Sequence	MDDIFTQCRE GNAVAVRLWL DNTENDLNQG DDHGFSPLHW ACREGRSAVV EMLIMRGARI 60 NVMNRGDDTP LHLAASHGHR DIVQKLLQYK ADINAVNEHG NVPLHYACFW GQDQVAEDLV 120 ANGALVSICN KYGEMPVDKA KAPLRELLRG PSPHPLACVL SSLPTCLLPL YHSLGCFSSL 180 ERAEKMGQNL NRIPYKDTFW KGTTRTRPRN GTLNKHSGID FKQLNFLTKL NENHSGELWK 240 GRWQGNDIVV KVLKVRDWST RKSRDFNEEC PRLRIFSHPN VLPVLGACQS PPAPHPTLIT 300 HWMPYGSLYN VLHEGTNFVV DQSQAVKFAL DMARGMAFLH TLEPLIPRHA LNSRSVMIDE 360 DMTARISMAD VKFSFQCPGR MYAPAWVAPE ALQKKPEDTN RRSADMWSFA VLLWELVTRE 420 VPFADLSNME IGMKVALEGL RPTIPPGISP HVCKLMKICM NEDPAKRPKF DMIVPILEKM 480 QDK 483

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Species	Evidence	Details
1:1 ortholog	ILK	476836	E2R5H4		Canis lupus familiaris	Prediction	More>>
1:1 ortholog	ILK	102177259	A0A452F0A3		Capra hircus	Prediction	More>>
1:1 ortholog	ILK	100070066	A0A3Q2H733		Equus caballus	Prediction	More>>
1:1 ortholog	ILK		A0A0A0MTH3		Homo sapiens	Prediction	More>>
1:1 ortholog	Ilk	16202	O55222	CPO	Mus musculus	Publication	More>>
1:1 ortholog	ILK	748941	A0A2I3T709		Pan troglodytes	Prediction	More>>
1:1 ortholog	Ilk	170922	Q99J82		Rattus norvegicus	Prediction	More>>
1:1 ortholog	ilk	393543	Q6PHD6		Danio rerio	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs1342682020	p.Asp3His	missense variant	-	NC_000011.10:g.6604278G>C	gnomAD
rs775806437	p.Ile4Val	missense variant	-	NC_000011.10:g.6604281A>G	ExAC,gnomAD
rs768835412	p.Phe5Ile	missense variant	-	NC_000011.10:g.6604284T>A	ExAC,gnomAD
rs777208312	p.Arg9Gln	missense variant	-	NC_000011.10:g.6604297G>A	ExAC,gnomAD
rs1257739609	p.Glu10Lys	missense variant	-	NC_000011.10:g.6604299G>A	gnomAD
rs1484835654	p.Gly11Ser	missense variant	-	NC_000011.10:g.6604302G>A	gnomAD
rs765978022	p.Asn12Ser	missense variant	-	NC_000011.10:g.6604306A>G	ExAC,gnomAD
rs1196783653	p.Val14Ile	missense variant	-	NC_000011.10:g.6604311G>A	gnomAD
rs759232977	p.Ala15Ser	missense variant	-	NC_000011.10:g.6604314G>T	ExAC,TOPMed,gnomAD
rs759232977	p.Ala15Thr	missense variant	-	NC_000011.10:g.6604314G>A	ExAC,TOPMed,gnomAD
rs1433310238	p.Val16Phe	missense variant	-	NC_000011.10:g.6604317G>T	TOPMed,gnomAD
rs1177562092	p.Arg17Cys	missense variant	-	NC_000011.10:g.6604320C>T	gnomAD
rs767175625	p.Trp19Arg	missense variant	-	NC_000011.10:g.6604326T>C	ExAC,gnomAD
rs1362776450	p.Asp21His	missense variant	-	NC_000011.10:g.6604332G>C	gnomAD
rs752302392	p.Asp21Gly	missense variant	-	NC_000011.10:g.6604333A>G	ExAC,gnomAD
rs114115159	p.Asn22Ser	missense variant	-	NC_000011.10:g.6604336A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1221055442	p.Thr23Met	missense variant	-	NC_000011.10:g.6604339C>T	gnomAD
rs763787925	p.Asn25Asp	missense variant	-	NC_000011.10:g.6604344A>G	ExAC,gnomAD
rs938593629	p.Asn25Lys	missense variant	-	NC_000011.10:g.6604346C>A	TOPMed,gnomAD
rs1489118962	p.Asn28Ser	missense variant	-	NC_000011.10:g.6604354A>G	gnomAD
rs376074648	p.Asp32Asn	missense variant	-	NC_000011.10:g.6608050G>A	ESP,ExAC,TOPMed,gnomAD
rs200679312	p.Ser36Phe	missense variant	-	NC_000011.10:g.6608063C>T	1000Genomes,ExAC,gnomAD
rs760427367	p.Ala41Val	missense variant	-	NC_000011.10:g.6608078C>T	ExAC,TOPMed,gnomAD
rs774834539	p.Ala41Pro	missense variant	-	NC_000011.10:g.6608077G>C	ExAC,gnomAD
rs768217957	p.Arg43Gln	missense variant	-	NC_000011.10:g.6608084G>A	ExAC,TOPMed,gnomAD
rs1427320498	p.Arg43Ter	stop gained	-	NC_000011.10:g.6608083C>T	gnomAD
rs145039481	p.Glu44Gln	missense variant	-	NC_000011.10:g.6608086G>C	ESP,ExAC,TOPMed,gnomAD
rs976603626	p.Arg46Cys	missense variant	-	NC_000011.10:g.6608092C>T	TOPMed,gnomAD
rs370736279	p.Arg46Pro	missense variant	-	NC_000011.10:g.6608093G>C	ESP,ExAC,TOPMed,gnomAD
rs370736279	p.Arg46His	missense variant	-	NC_000011.10:g.6608093G>A	ESP,ExAC,TOPMed,gnomAD
rs1359613816	p.Ser47Cys	missense variant	-	NC_000011.10:g.6608096C>G	TOPMed,gnomAD
rs1359613816	p.Ser47Tyr	missense variant	-	NC_000011.10:g.6608096C>A	TOPMed,gnomAD
rs201499797	p.Val49Ala	missense variant	-	NC_000011.10:g.6608102T>C	1000Genomes,ExAC,gnomAD
rs1299706614	p.Val50Ala	missense variant	-	NC_000011.10:g.6608105T>C	TOPMed,gnomAD
rs762978553	p.Glu51Gln	missense variant	-	NC_000011.10:g.6608107G>C	ExAC,gnomAD
rs529751196	p.Met52Val	missense variant	-	NC_000011.10:g.6608110A>G	1000Genomes,ExAC,gnomAD
rs1347766100	p.Met52Thr	missense variant	-	NC_000011.10:g.6608111T>C	gnomAD
rs200336608	p.Leu53Met	missense variant	-	NC_000011.10:g.6608113T>A	ESP,ExAC,TOPMed,gnomAD
rs781296730	p.Met55Val	missense variant	-	NC_000011.10:g.6608119A>G	ExAC,TOPMed,gnomAD
rs752892842	p.Met55Thr	missense variant	-	NC_000011.10:g.6608120T>C	ExAC,gnomAD
rs781296730	p.Met55Leu	missense variant	-	NC_000011.10:g.6608119A>T	ExAC,TOPMed,gnomAD
rs141701406	p.Arg56Pro	missense variant	-	NC_000011.10:g.6608123G>C	ESP,TOPMed
rs756532224	p.Arg56Trp	missense variant	-	NC_000011.10:g.6608122C>T	ExAC,TOPMed
rs141701406	p.Arg56Gln	missense variant	-	NC_000011.10:g.6608123G>A	ESP,TOPMed
rs1451247994	p.Gly57Glu	missense variant	-	NC_000011.10:g.6608126G>A	gnomAD
rs778110752	p.Gly57Arg	missense variant	-	NC_000011.10:g.6608125G>C	ExAC,gnomAD
rs1379386108	p.Ala58Thr	missense variant	-	NC_000011.10:g.6608128G>A	gnomAD
rs771408198	p.Ala58Val	missense variant	-	NC_000011.10:g.6608129C>T	ExAC,gnomAD
rs779428507	p.Arg59Trp	missense variant	-	NC_000011.10:g.6608131C>T	ExAC,gnomAD
rs1202745271	p.Asn61Asp	missense variant	-	NC_000011.10:g.6608137A>G	TOPMed
rs768146142	p.Val62Ile	missense variant	-	NC_000011.10:g.6608140G>A	ExAC,TOPMed,gnomAD
rs761544290	p.Arg65Leu	missense variant	-	NC_000011.10:g.6608150G>T	ExAC,TOPMed,gnomAD
rs776161614	p.Arg65Cys	missense variant	-	NC_000011.10:g.6608149C>T	ExAC,gnomAD
rs769777691	p.Gly66Arg	missense variant	-	NC_000011.10:g.6608152G>A	ExAC,gnomAD
rs763031937	p.Thr69Ile	missense variant	-	NC_000011.10:g.6608162C>T	ExAC,TOPMed,gnomAD
rs773109315	p.Thr69Ser	missense variant	-	NC_000011.10:g.6608161A>T	ExAC,TOPMed
rs763031937	p.Thr69Ser	missense variant	-	NC_000011.10:g.6608162C>G	ExAC,TOPMed,gnomAD
rs1306619165	p.Pro70Leu	missense variant	-	NC_000011.10:g.6608165C>T	TOPMed
rs940177401	p.Leu71Pro	missense variant	-	NC_000011.10:g.6608168T>C	TOPMed,gnomAD
rs759535056	p.Ser76Arg	missense variant	-	NC_000011.10:g.6608184T>G	ExAC,gnomAD
rs1355016857	p.Ser76Gly	missense variant	-	NC_000011.10:g.6608182A>G	gnomAD
rs750788075	p.His77Tyr	missense variant	-	NC_000011.10:g.6608185C>T	gnomAD
rs760982982	p.His77Arg	missense variant	-	NC_000011.10:g.6608186A>G	gnomAD
rs752932911	p.Arg80His	missense variant	-	NC_000011.10:g.6608195G>A	ExAC,gnomAD
rs1317956065	p.Leu87Ser	missense variant	-	NC_000011.10:g.6608398T>C	TOPMed
rs1208088812	p.Gln88His	missense variant	-	NC_000011.10:g.6608402G>C	gnomAD
rs1254222245	p.Tyr89Ser	missense variant	-	NC_000011.10:g.6608404A>C	gnomAD
rs755641968	p.Asp92Asn	missense variant	-	NC_000011.10:g.6608412G>A	ExAC,gnomAD
rs777569798	p.Ile93Val	missense variant	-	NC_000011.10:g.6608415A>G	ExAC,TOPMed,gnomAD
rs1297687558	p.Val96Met	missense variant	-	NC_000011.10:g.6608424G>A	gnomAD
rs1429815250	p.His99Tyr	missense variant	-	NC_000011.10:g.6608433C>T	gnomAD
rs1173338186	p.His99Pro	missense variant	-	NC_000011.10:g.6608434A>C	gnomAD
rs745845608	p.Gly100Arg	missense variant	-	NC_000011.10:g.6608436G>A	ExAC,gnomAD
rs772071519	p.His105Asn	missense variant	-	NC_000011.10:g.6608451C>A	ExAC
rs760749828	p.Trp110Ter	stop gained	-	NC_000011.10:g.6608468G>A	ExAC,gnomAD
rs775369494	p.Trp110Gly	missense variant	-	NC_000011.10:g.6608466T>G	ExAC,TOPMed,gnomAD
rs764104201	p.Asp113Tyr	missense variant	-	NC_000011.10:g.6608475G>T	ExAC,TOPMed,gnomAD
rs1190579004	p.Ala116Val	missense variant	-	NC_000011.10:g.6608485C>T	TOPMed
rs1368347084	p.Asn122Tyr	missense variant	-	NC_000011.10:g.6608706A>T	gnomAD
rs745709169	p.Ala124Thr	missense variant	-	NC_000011.10:g.6608712G>A	ExAC,TOPMed,gnomAD
rs745709169	p.Ala124Ser	missense variant	-	NC_000011.10:g.6608712G>T	ExAC,TOPMed,gnomAD
rs1305586718	p.Leu125Val	missense variant	-	NC_000011.10:g.6608715C>G	gnomAD
rs1351412742	p.Leu125Pro	missense variant	-	NC_000011.10:g.6608716T>C	gnomAD
rs779981802	p.Val126Ala	missense variant	-	NC_000011.10:g.6608719T>C	ExAC,TOPMed,gnomAD
rs200151088	p.Val126Phe	missense variant	-	NC_000011.10:g.6608718G>T	1000Genomes,ExAC,gnomAD
rs1332744590	p.Cys129Ser	missense variant	-	NC_000011.10:g.6608728G>C	TOPMed
rs1332744590	p.Cys129Tyr	missense variant	-	NC_000011.10:g.6608728G>A	TOPMed
rs1408959161	p.Lys131Asn	missense variant	-	NC_000011.10:g.6608735G>C	TOPMed
rs768791411	p.Tyr132Asp	missense variant	-	NC_000011.10:g.6608736T>G	ExAC,TOPMed,gnomAD
rs776660725	p.Tyr132Cys	missense variant	-	NC_000011.10:g.6608737A>G	ExAC,TOPMed,gnomAD
rs770076288	p.Gly133Ala	missense variant	-	NC_000011.10:g.6608740G>C	ExAC,gnomAD
rs761991240	p.Gly133Arg	missense variant	-	NC_000011.10:g.6608739G>A	ExAC,gnomAD
rs1439612462	p.Glu134Asp	missense variant	-	NC_000011.10:g.6608744G>C	gnomAD
rs1439612462	p.Glu134Asp	missense variant	-	NC_000011.10:g.6608744G>T	gnomAD
rs773265619	p.Val137Ala	missense variant	-	NC_000011.10:g.6608752T>C	ExAC,TOPMed,gnomAD
rs187795252	p.Lys141Arg	missense variant	-	NC_000011.10:g.6608764A>G	1000Genomes,ExAC
rs200920329	p.Pro143Thr	missense variant	-	NC_000011.10:g.6608769C>A	ExAC,TOPMed,gnomAD
rs201763536	p.Pro143Leu	missense variant	-	NC_000011.10:g.6608770C>T	ESP,ExAC,TOPMed,gnomAD
rs139640491	p.Arg145Ser	missense variant	-	NC_000011.10:g.6608777A>C	1000Genomes,ExAC,TOPMed,gnomAD
rs753415741	p.Leu147Phe	missense variant	-	NC_000011.10:g.6608781C>T	ExAC,TOPMed,gnomAD
rs756684423	p.Leu147Pro	missense variant	-	NC_000011.10:g.6608782T>C	ExAC,gnomAD
rs1279951909	p.Arg149Ter	stop gained	-	NC_000011.10:g.6608787C>T	gnomAD
rs869025437	p.Arg149Gln	missense variant	-	NC_000011.10:g.6608788G>A	TOPMed,gnomAD
rs1226374130	p.Pro151Leu	missense variant	-	NC_000011.10:g.6608794C>T	gnomAD
rs1206861965	p.Pro153Ser	missense variant	-	NC_000011.10:g.6608799C>T	TOPMed
rs1438046207	p.Pro155Ser	missense variant	-	NC_000011.10:g.6608805C>T	TOPMed
rs574384765	p.Pro155Leu	missense variant	-	NC_000011.10:g.6608806C>T	1000Genomes,ExAC,gnomAD
rs543104710	p.Ala157Val	missense variant	-	NC_000011.10:g.6608812C>T	1000Genomes
rs749988061	p.Cys158Tyr	missense variant	-	NC_000011.10:g.6608815G>A	ExAC,TOPMed,gnomAD
rs749988061	p.Cys158Phe	missense variant	-	NC_000011.10:g.6608815G>T	ExAC,TOPMed,gnomAD
rs1198205599	p.Leu160Pro	missense variant	-	NC_000011.10:g.6608821T>C	TOPMed
rs1457715366	p.Ser161Leu	missense variant	-	NC_000011.10:g.6608824C>T	gnomAD
rs779820400	p.Leu163His	missense variant	-	NC_000011.10:g.6608830T>A	ExAC
rs372234812	p.Thr165Ile	missense variant	-	NC_000011.10:g.6608836C>T	ESP,gnomAD
rs368539510	p.Leu168Phe	missense variant	-	NC_000011.10:g.6608844C>T	ESP,ExAC,TOPMed,gnomAD
rs368539510	p.Leu168Ile	missense variant	-	NC_000011.10:g.6608844C>A	ESP,ExAC,TOPMed,gnomAD
rs768558367	p.Pro169Leu	missense variant	-	NC_000011.10:g.6608848C>T	ExAC,gnomAD
rs1401782285	p.Leu174Phe	missense variant	-	NC_000011.10:g.6608864A>C	gnomAD
rs769692488	p.Gly175Ala	missense variant	-	NC_000011.10:g.6608866G>C	ExAC,TOPMed
rs368896352	p.Cys176Tyr	missense variant	-	NC_000011.10:g.6608869G>A	ESP,ExAC
rs763068953	p.Ser178Pro	missense variant	-	NC_000011.10:g.6608874T>C	ExAC,gnomAD
rs774837228	p.Arg182Gln	missense variant	-	NC_000011.10:g.6608887G>A	ExAC,TOPMed,gnomAD
rs771485363	p.Arg182Trp	missense variant	-	NC_000011.10:g.6608886C>T	ExAC,TOPMed,gnomAD
rs867451051	p.Glu184Gly	missense variant	-	NC_000011.10:g.6608893A>G	gnomAD
rs1027674317	p.Lys185Met	missense variant	-	NC_000011.10:g.6608896A>T	TOPMed
rs759935148	p.Lys185Asn	missense variant	-	NC_000011.10:g.6608897G>T	ExAC,gnomAD
rs199790448	p.Gly187Ser	missense variant	-	NC_000011.10:g.6608901G>A	ExAC,TOPMed,gnomAD
rs761400440	p.Arg192Cys	missense variant	-	NC_000011.10:g.6608916C>T	ExAC,TOPMed,gnomAD
rs569140095	p.Arg192Leu	missense variant	-	NC_000011.10:g.6608917G>T	TOPMed,gnomAD
rs569140095	p.Arg192His	missense variant	-	NC_000011.10:g.6608917G>A	TOPMed,gnomAD
rs764641628	p.Ile193Val	missense variant	-	NC_000011.10:g.6608919A>G	ExAC,gnomAD
rs1441174976	p.Ile193Met	missense variant	-	NC_000011.10:g.6608921T>G	gnomAD
rs766210285	p.Tyr195His	missense variant	-	NC_000011.10:g.6608925T>C	ExAC,TOPMed,gnomAD
rs751375651	p.Tyr195Ter	stop gained	-	NC_000011.10:g.6608927C>G	ExAC
rs754728057	p.Lys196Met	missense variant	-	NC_000011.10:g.6608929A>T	ExAC,gnomAD
rs781192537	p.Asp197His	missense variant	-	NC_000011.10:g.6608931G>C	ExAC,gnomAD
rs747974626	p.Phe199Cys	missense variant	-	NC_000011.10:g.6608938T>G	ExAC,TOPMed,gnomAD
rs1554898796	p.Phe199Leu	missense variant	-	NC_000011.10:g.6608939C>G	-
rs756271344	p.Thr203Asn	missense variant	-	NC_000011.10:g.6608950C>A	ExAC,TOPMed,gnomAD
rs756271344	p.Thr203Ile	missense variant	-	NC_000011.10:g.6608950C>T	ExAC,TOPMed,gnomAD
rs372608079	p.Thr204Asn	missense variant	-	NC_000011.10:g.6608953C>A	ESP,ExAC,gnomAD
rs372608079	p.Thr204Ile	missense variant	-	NC_000011.10:g.6608953C>T	ESP,ExAC,gnomAD
rs201671181	p.Arg205Cys	missense variant	-	NC_000011.10:g.6608955C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs192233749	p.Arg205His	missense variant	-	NC_000011.10:g.6608956G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1378123090	p.Thr206Ile	missense variant	-	NC_000011.10:g.6608959C>T	TOPMed
rs1333269100	p.Arg207Trp	missense variant	-	NC_000011.10:g.6608961C>T	gnomAD
rs1282667873	p.Arg207Gln	missense variant	-	NC_000011.10:g.6608962G>A	TOPMed
rs1375799547	p.Arg209Ter	stop gained	-	NC_000011.10:g.6608967C>T	gnomAD
rs370953374	p.Thr212Ile	missense variant	-	NC_000011.10:g.6609080C>T	ESP,ExAC,TOPMed,gnomAD
rs777155173	p.Leu213Pro	missense variant	-	NC_000011.10:g.6609083T>C	ExAC,gnomAD
rs1238498641	p.Asn214Lys	missense variant	-	NC_000011.10:g.6609087C>A	gnomAD
rs762454800	p.Lys215Thr	missense variant	-	NC_000011.10:g.6609089A>C	ExAC,TOPMed,gnomAD
rs944132049	p.His216Pro	missense variant	-	NC_000011.10:g.6609092A>C	TOPMed
rs1406793461	p.Gly218Val	missense variant	-	NC_000011.10:g.6609098G>T	TOPMed
rs761882549	p.Asn225Asp	missense variant	-	NC_000011.10:g.6609118A>G	ExAC,TOPMed,gnomAD
rs1287846517	p.Phe226Ile	missense variant	-	NC_000011.10:g.6609121T>A	gnomAD
rs767383055	p.Thr228Met	missense variant	-	NC_000011.10:g.6609128C>T	ExAC,gnomAD
rs767383055	p.Thr228Lys	missense variant	-	NC_000011.10:g.6609128C>A	ExAC,gnomAD
rs752409651	p.Leu230Phe	missense variant	-	NC_000011.10:g.6609133C>T	ExAC
rs1057518584	p.Glu232Lys	missense variant	-	NC_000011.10:g.6609139G>A	-
rs1176547292	p.Asn233Ser	missense variant	-	NC_000011.10:g.6609143A>G	gnomAD
rs528392640	p.His234Gln	missense variant	-	NC_000011.10:g.6609147C>A	1000Genomes,ExAC,gnomAD
rs1362965691	p.His234Tyr	missense variant	-	NC_000011.10:g.6609145C>T	gnomAD
rs1196872015	p.Ser235Ala	missense variant	-	NC_000011.10:g.6609148T>G	TOPMed,gnomAD
rs548542841	p.Gly236Glu	missense variant	-	NC_000011.10:g.6609152G>A	1000Genomes,ExAC,gnomAD
rs757473698	p.Gly236Arg	missense variant	-	NC_000011.10:g.6609151G>A	ExAC,TOPMed,gnomAD
rs1316191093	p.Lys240Glu	missense variant	-	NC_000011.10:g.6609305A>G	gnomAD
rs1252024448	p.Gly241Ser	missense variant	-	NC_000011.10:g.6609308G>A	TOPMed
rs140322345	p.Arg242Cys	missense variant	-	NC_000011.10:g.6609311C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs200288502	p.Arg242His	missense variant	-	NC_000011.10:g.6609312G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs758462999	p.Trp243Cys	missense variant	-	NC_000011.10:g.6609316G>T	ExAC,TOPMed,gnomAD
rs374924048	p.Gly245Asp	missense variant	-	NC_000011.10:g.6609321G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs374924048	p.Gly245Ala	missense variant	-	NC_000011.10:g.6609321G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs189208619	p.Asn246Ser	missense variant	-	NC_000011.10:g.6609324A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs576804127	p.Asp247Gly	missense variant	-	NC_000011.10:g.6609327A>G	gnomAD
rs142708585	p.Asp247Tyr	missense variant	-	NC_000011.10:g.6609326G>T	ESP,ExAC,gnomAD
rs1050368247	p.Ile248Thr	missense variant	-	NC_000011.10:g.6609330T>C	TOPMed,gnomAD
rs981185597	p.Val249Ile	missense variant	-	NC_000011.10:g.6609332G>A	TOPMed
rs545926425	p.Val250Met	missense variant	-	NC_000011.10:g.6609335G>A	ExAC,TOPMed,gnomAD
rs1463931296	p.Lys251Arg	missense variant	-	NC_000011.10:g.6609339A>G	gnomAD
rs147368550	p.Lys254Asn	missense variant	-	NC_000011.10:g.6609349G>T	ESP,ExAC,TOPMed,gnomAD
rs1375167000	p.Val255Phe	missense variant	-	NC_000011.10:g.6609350G>T	gnomAD
rs1179732298	p.Arg256Ter	stop gained	-	NC_000011.10:g.6609353C>T	TOPMed
rs1315052873	p.Arg256Gln	missense variant	-	NC_000011.10:g.6609354G>A	TOPMed,gnomAD
rs1179732298	p.Arg256Gly	missense variant	-	NC_000011.10:g.6609353C>G	TOPMed
rs1054278826	p.Trp258Arg	missense variant	-	NC_000011.10:g.6609359T>C	TOPMed
rs955720414	p.Thr260Ala	missense variant	-	NC_000011.10:g.6609365A>G	TOPMed
rs775067414	p.Ser263Cys	missense variant	-	NC_000011.10:g.6609374A>T	ExAC,gnomAD
rs145571020	p.Asn267Ser	missense variant	-	NC_000011.10:g.6609387A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs148428064	p.Glu269Gln	missense variant	-	NC_000011.10:g.6609392G>C	1000Genomes,ExAC,gnomAD
rs914470282	p.Glu269Gly	missense variant	-	NC_000011.10:g.6609393A>G	TOPMed
rs776545789	p.Cys270Gly	missense variant	-	NC_000011.10:g.6609395T>G	ExAC,gnomAD
rs776545789	p.Cys270Arg	missense variant	-	NC_000011.10:g.6609395T>C	ExAC,gnomAD
rs762502276	p.Cys270Tyr	missense variant	-	NC_000011.10:g.6609396G>A	TOPMed
rs765298592	p.Arg272Trp	missense variant	-	NC_000011.10:g.6609401C>T	ExAC,gnomAD
rs773215648	p.Arg272Gln	missense variant	-	NC_000011.10:g.6609402G>A	ExAC,TOPMed,gnomAD
rs1185447961	p.Leu273Pro	missense variant	-	NC_000011.10:g.6609405T>C	gnomAD
rs869025438	p.Phe276Tyr	missense variant	-	NC_000011.10:g.6609517T>A	TOPMed,gnomAD
rs1222959517	p.Val284Ala	missense variant	-	NC_000011.10:g.6609541T>C	TOPMed,gnomAD
rs1385486344	p.Gly286Val	missense variant	-	NC_000011.10:g.6609547G>T	TOPMed
rs779240233	p.Ala287Pro	missense variant	-	NC_000011.10:g.6609549G>C	ExAC,gnomAD
rs746561372	p.Gln289Arg	missense variant	-	NC_000011.10:g.6609556A>G	ExAC,gnomAD
rs750354350	p.Pro291Thr	missense variant	-	NC_000011.10:g.6609561C>A	ExAC,TOPMed,gnomAD
rs750354350	p.Pro291Ser	missense variant	-	NC_000011.10:g.6609561C>T	ExAC,TOPMed,gnomAD
rs387907366	p.Ala293Val	missense variant	-	NC_000011.10:g.6609568C>T	-
rs747788514	p.Pro296Leu	missense variant	-	NC_000011.10:g.6609577C>T	ExAC,gnomAD
rs1164411308	p.Leu298Pro	missense variant	-	NC_000011.10:g.6609583T>C	TOPMed
rs1236862935	p.Leu298Val	missense variant	-	NC_000011.10:g.6609582C>G	gnomAD
rs777593652	p.Ile299Val	missense variant	-	NC_000011.10:g.6609585A>G	ExAC,gnomAD
rs749229669	p.Ile299Thr	missense variant	-	NC_000011.10:g.6609586T>C	ExAC,gnomAD
rs770920688	p.Thr300Ile	missense variant	-	NC_000011.10:g.6609589C>T	ExAC,gnomAD
rs1164312453	p.Trp302Ter	stop gained	-	NC_000011.10:g.6609596G>A	gnomAD
rs1388336535	p.Met303Ile	missense variant	-	NC_000011.10:g.6609599G>A	TOPMed
rs1244048050	p.Met303Thr	missense variant	-	NC_000011.10:g.6609598T>C	gnomAD
rs774113906	p.Pro304Arg	missense variant	-	NC_000011.10:g.6609601C>G	ExAC,TOPMed,gnomAD
rs774113906	p.Pro304Gln	missense variant	-	NC_000011.10:g.6609601C>A	ExAC,TOPMed,gnomAD
rs774113906	p.Pro304Leu	missense variant	-	NC_000011.10:g.6609601C>T	ExAC,TOPMed,gnomAD
rs149824696	p.Tyr309Asn	missense variant	-	NC_000011.10:g.6609615T>A	ESP,ExAC,TOPMed,gnomAD
rs149824696	p.Tyr309His	missense variant	-	NC_000011.10:g.6609615T>C	ESP,ExAC,TOPMed,gnomAD
rs754252138	p.Val311Leu	missense variant	-	NC_000011.10:g.6609621G>C	ExAC,TOPMed,gnomAD
rs754252138	p.Val311Ile	missense variant	-	NC_000011.10:g.6609621G>A	ExAC,TOPMed,gnomAD
rs1375080177	p.His313Arg	missense variant	-	NC_000011.10:g.6609628A>G	gnomAD
rs765781018	p.Gly315Asp	missense variant	-	NC_000011.10:g.6609634G>A	ExAC
rs1334974997	p.Asn317Asp	missense variant	-	NC_000011.10:g.6609639A>G	gnomAD
rs377702962	p.Val319Ile	missense variant	-	NC_000011.10:g.6609729G>A	ESP,ExAC,TOPMed,gnomAD
rs776651238	p.Val320Met	missense variant	-	NC_000011.10:g.6609732G>A	ExAC,TOPMed,gnomAD
rs1215631435	p.Asp321Glu	missense variant	-	NC_000011.10:g.6609737C>G	gnomAD
rs530776032	p.Asp321Gly	missense variant	-	NC_000011.10:g.6609736A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs530776032	p.Asp321Ala	missense variant	-	NC_000011.10:g.6609736A>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1275582308	p.Gln322Arg	missense variant	-	NC_000011.10:g.6609739A>G	gnomAD
rs763522423	p.Ala325Thr	missense variant	-	NC_000011.10:g.6609747G>A	ExAC,gnomAD
rs763522423	p.Ala325Pro	missense variant	-	NC_000011.10:g.6609747G>C	ExAC,gnomAD
rs755535703	p.Phe328Ser	missense variant	-	NC_000011.10:g.6609757T>C	ExAC,gnomAD
rs777483579	p.Leu330Val	missense variant	-	NC_000011.10:g.6609762T>G	ExAC,gnomAD
rs1241550995	p.Asp331Gly	missense variant	-	NC_000011.10:g.6609766A>G	gnomAD
rs753421650	p.Met332Thr	missense variant	-	NC_000011.10:g.6609769T>C	ExAC,gnomAD
rs1339432987	p.Met332Val	missense variant	-	NC_000011.10:g.6609768A>G	TOPMed
rs1021715262	p.Ala333Gly	missense variant	-	NC_000011.10:g.6609772C>G	TOPMed,gnomAD
rs745859204	p.Phe338Ser	missense variant	-	NC_000011.10:g.6609787T>C	ExAC,gnomAD
rs1436127091	p.Leu339Pro	missense variant	-	NC_000011.10:g.6609790T>C	gnomAD
rs1283676954	p.Thr341Ile	missense variant	-	NC_000011.10:g.6609796C>T	TOPMed
rs376990122	p.Leu342Ile	missense variant	-	NC_000011.10:g.6609798C>A	ESP,ExAC,TOPMed,gnomAD
rs148581987	p.Leu345His	missense variant	-	NC_000011.10:g.6609808T>A	ESP,ExAC,gnomAD
rs768563368	p.Leu345Phe	missense variant	-	NC_000011.10:g.6609807C>T	ExAC,gnomAD
rs201508380	p.Ile346Val	missense variant	-	NC_000011.10:g.6609810A>G	ExAC,TOPMed,gnomAD
rs1203564359	p.Pro347Ser	missense variant	-	NC_000011.10:g.6609813C>T	gnomAD
rs770233845	p.Arg348Gln	missense variant	-	NC_000011.10:g.6609817G>A	ExAC,TOPMed,gnomAD
rs1283799272	p.Arg348Ter	stop gained	-	NC_000011.10:g.6609816C>T	gnomAD
rs773688505	p.His349Arg	missense variant	-	NC_000011.10:g.6609820A>G	ExAC,gnomAD
rs763356453	p.Ala350Thr	missense variant	-	NC_000011.10:g.6609822G>A	ExAC,gnomAD
rs912510389	p.Leu351Ile	missense variant	-	NC_000011.10:g.6609825C>A	TOPMed,gnomAD
rs912510389	p.Leu351Val	missense variant	-	NC_000011.10:g.6609825C>G	TOPMed,gnomAD
rs570806647	p.Asn352Ser	missense variant	-	NC_000011.10:g.6609829A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1005857328	p.Asn352Asp	missense variant	-	NC_000011.10:g.6609828A>G	TOPMed,gnomAD
rs199652324	p.Arg354His	missense variant	-	NC_000011.10:g.6609835G>A	ExAC,gnomAD
rs1455327884	p.Arg354Cys	missense variant	-	NC_000011.10:g.6609834C>T	gnomAD
rs1181885506	p.Met357Val	missense variant	-	NC_000011.10:g.6609843A>G	TOPMed
rs758123703	p.Asp359His	missense variant	-	NC_000011.10:g.6609939G>C	ExAC,gnomAD
rs1327210641	p.Glu360Lys	missense variant	-	NC_000011.10:g.6609942G>A	gnomAD
rs1397320741	p.Asp361Gly	missense variant	-	NC_000011.10:g.6609946A>G	gnomAD
rs369264218	p.Met362Ile	missense variant	-	NC_000011.10:g.6609950G>C	ESP,ExAC,TOPMed,gnomAD
rs566678782	p.Arg365Gln	missense variant	-	NC_000011.10:g.6609958G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1046668378	p.Arg365Ter	stop gained	-	NC_000011.10:g.6609957C>T	TOPMed
rs1455102074	p.Ile366Asn	missense variant	-	NC_000011.10:g.6609961T>A	TOPMed
rs374027960	p.Val371Gly	missense variant	-	NC_000011.10:g.6609976T>G	ESP,ExAC,TOPMed,gnomAD
rs781099551	p.Lys372Arg	missense variant	-	NC_000011.10:g.6609979A>G	ExAC,gnomAD
rs1233947021	p.Lys372Asn	missense variant	-	NC_000011.10:g.6609980G>T	gnomAD
rs1273794131	p.Phe375Cys	missense variant	-	NC_000011.10:g.6609988T>G	gnomAD
rs1358304642	p.Phe375Leu	missense variant	-	NC_000011.10:g.6609989C>A	TOPMed,gnomAD
rs377094824	p.Arg380Leu	missense variant	-	NC_000011.10:g.6610003G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs377094824	p.Arg380His	missense variant	-	NC_000011.10:g.6610003G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1257537906	p.Arg380Cys	missense variant	-	NC_000011.10:g.6610002C>T	TOPMed,gnomAD
rs749671754	p.Met381Val	missense variant	-	NC_000011.10:g.6610005A>G	ExAC,TOPMed,gnomAD
rs749671754	p.Met381Leu	missense variant	-	NC_000011.10:g.6610005A>C	ExAC,TOPMed,gnomAD
rs1474632483	p.Pro384Ser	missense variant	-	NC_000011.10:g.6610014C>T	gnomAD
rs759931830	p.Val387Ala	missense variant	-	NC_000011.10:g.6610024T>C	ExAC,TOPMed
rs199558648	p.Val387Ile	missense variant	-	NC_000011.10:g.6610023G>A	ExAC,TOPMed,gnomAD
rs191096877	p.Pro389Thr	missense variant	-	NC_000011.10:g.6610029C>A	1000Genomes
rs1243705654	p.Glu390Lys	missense variant	-	NC_000011.10:g.6610032G>A	TOPMed
rs763712933	p.Glu390Asp	missense variant	-	NC_000011.10:g.6610034A>C	ExAC,gnomAD
rs142990615	p.Gln393His	missense variant	-	NC_000011.10:g.6610155G>C	ESP,ExAC,TOPMed,gnomAD
rs865878764	p.Lys395Gln	missense variant	-	NC_000011.10:g.6610159A>C	gnomAD
rs762559213	p.Pro396Ala	missense variant	-	NC_000011.10:g.6610162C>G	ExAC,TOPMed,gnomAD
rs1300901328	p.Glu397Lys	missense variant	-	NC_000011.10:g.6610165G>A	TOPMed,gnomAD
rs751329555	p.Thr399Ile	missense variant	-	NC_000011.10:g.6610172C>T	ExAC,TOPMed,gnomAD
rs751329555	p.Thr399Arg	missense variant	-	NC_000011.10:g.6610172C>G	ExAC,TOPMed,gnomAD
rs370480843	p.Arg402His	missense variant	-	NC_000011.10:g.6610181G>A	ESP,ExAC,gnomAD
rs759330457	p.Arg402Cys	missense variant	-	NC_000011.10:g.6610180C>T	ExAC,TOPMed,gnomAD
rs756318102	p.Ala404Thr	missense variant	-	NC_000011.10:g.6610186G>A	ExAC,gnomAD
rs1454962994	p.Met406Ile	missense variant	-	NC_000011.10:g.6610194G>A	TOPMed,gnomAD
rs1394802490	p.Met406Leu	missense variant	-	NC_000011.10:g.6610192A>C	TOPMed,gnomAD
rs1454962994	p.Met406Ile	missense variant	-	NC_000011.10:g.6610194G>C	TOPMed,gnomAD
rs1394802490	p.Met406Val	missense variant	-	NC_000011.10:g.6610192A>G	TOPMed,gnomAD
rs777970676	p.Ala410Thr	missense variant	-	NC_000011.10:g.6610204G>A	ExAC,gnomAD
rs1343648430	p.Ala410Val	missense variant	-	NC_000011.10:g.6610205C>T	TOPMed,gnomAD
rs1437142163	p.Glu415Asp	missense variant	-	NC_000011.10:g.6610221A>C	gnomAD
rs779157270	p.Glu415Ter	stop gained	-	NC_000011.10:g.6610219G>T	ExAC,gnomAD
rs772427264	p.Val417Leu	missense variant	-	NC_000011.10:g.6610225G>T	ExAC,TOPMed,gnomAD
rs780486336	p.Thr418Ile	missense variant	-	NC_000011.10:g.6610229C>T	ExAC,gnomAD
rs776996356	p.Arg419Trp	missense variant	-	NC_000011.10:g.6610231C>T	gnomAD
rs747548824	p.Arg419Gln	missense variant	-	NC_000011.10:g.6610232G>A	ExAC,gnomAD
rs966713977	p.Ala424Gly	missense variant	-	NC_000011.10:g.6610247C>G	TOPMed
rs730880112	p.Asp425Asn	missense variant	-	NC_000011.10:g.6610249G>A	TOPMed,gnomAD
rs573043537	p.Ile431Met	missense variant	-	NC_000011.10:g.6610269T>G	1000Genomes,ExAC,gnomAD
rs762397629	p.Lys434Arg	missense variant	-	NC_000011.10:g.6610277A>G	ExAC,gnomAD
rs1244639583	p.Leu437Ser	missense variant	-	NC_000011.10:g.6610469T>C	TOPMed
rs1427775328	p.Gly439Ser	missense variant	-	NC_000011.10:g.6610474G>A	gnomAD
rs778453343	p.Arg441Trp	missense variant	-	NC_000011.10:g.6610480C>T	ExAC,gnomAD
rs745314579	p.Arg441Gln	missense variant	-	NC_000011.10:g.6610481G>A	ExAC,TOPMed,gnomAD
rs1458470224	p.Thr443Ser	missense variant	-	NC_000011.10:g.6610487C>G	gnomAD
rs775217190	p.Gly447Ser	missense variant	-	NC_000011.10:g.6610498G>A	ExAC,gnomAD
rs1361859236	p.Ile448Thr	missense variant	-	NC_000011.10:g.6610502T>C	gnomAD
rs1554900104	p.Ser449Pro	missense variant	-	NC_000011.10:g.6610504T>C	-
rs1300196118	p.His451Arg	missense variant	-	NC_000011.10:g.6610511A>G	gnomAD
rs1554900107	p.His451Tyr	missense variant	-	NC_000011.10:g.6610510C>T	-
rs373728455	p.Met456Ile	missense variant	-	NC_000011.10:g.6610527G>A	ESP,ExAC,TOPMed,gnomAD
rs1213733033	p.Cys459Tyr	missense variant	-	NC_000011.10:g.6610535G>A	gnomAD
rs1554900131	p.Met460Val	missense variant	-	NC_000011.10:g.6610537A>G	-
rs765285266	p.Asp463Glu	missense variant	-	NC_000011.10:g.6610548C>G	ExAC,TOPMed,gnomAD
rs1475010097	p.Pro464Ser	missense variant	-	NC_000011.10:g.6610549C>T	TOPMed,gnomAD
rs1477497923	p.Arg467Ter	stop gained	-	NC_000011.10:g.6610558C>T	TOPMed,gnomAD
rs773362090	p.Arg467Gln	missense variant	-	NC_000011.10:g.6610559G>A	ExAC,gnomAD
rs1452306438	p.Met472Arg	missense variant	-	NC_000011.10:g.6610574T>G	TOPMed,gnomAD
rs1452306438	p.Met472Lys	missense variant	-	NC_000011.10:g.6610574T>A	TOPMed,gnomAD
rs141181875	p.Ile473Val	missense variant	-	NC_000011.10:g.6610576A>G	ESP,ExAC,gnomAD
rs1191199055	p.Val474Met	missense variant	-	NC_000011.10:g.6610579G>A	TOPMed,gnomAD
rs1425413558	p.Val474Ala	missense variant	-	NC_000011.10:g.6610580T>C	gnomAD
rs766624785	p.Pro475Ala	missense variant	-	NC_000011.10:g.6610582C>G	ExAC,gnomAD
rs1323106962	p.Met480Ile	missense variant	-	NC_000011.10:g.6610599G>A	TOPMed,gnomAD
rs767862990	p.Gln481His	missense variant	-	NC_000011.10:g.6610602G>C	ExAC,gnomAD
rs1234007742	p.Asp482Glu	missense variant	-	NC_000011.10:g.6610605C>G	TOPMed,gnomAD
rs1169840219	p.Ter484Trp	stop lost	-	NC_000011.10:g.6610610A>G	gnomAD
rs756620800	p.Ter484Gln	stop lost	-	NC_000011.10:g.6610609T>C	ExAC,gnomAD
rs1400986012	p.Ter484Tyr	stop lost	-	NC_000011.10:g.6610611G>T	gnomAD

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence

GO:Biological Process

GO ID	GO Term	Evidence

GO:Cellular Component

GO ID	GO Term	Evidence

Reactome Pathway

Reactome ID	Reactome Term	Evidence

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0040	ANK repeat
KW-1267	Proteomics identification
KW-1185	Reference proteome

Interpro

InterPro ID	InterPro Term
IPR002110	Ankyrin_rpt
IPR020683	Ankyrin_rpt-contain_dom
IPR036770	Ankyrin_rpt-contain_sf
IPR011009	Kinase-like_dom_sf
IPR035692	PK_ILK
IPR000719	Prot_kinase_dom
IPR001245	Ser-Thr/Tyr_kinase_cat_dom

PROSITE

PROSITE ID	PROSITE Term
PS50297	ANK_REP_REGION
PS50088	ANK_REPEAT
PS50011	PROTEIN_KINASE_DOM

Pfam

Pfam ID	Pfam Term
PF07714	Pkinase_Tyr

Gene: ILK

Basic information

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Other genetic variants/mutations

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO:Biological Process

GO:Cellular Component

Reactome Pathway

Functional annotations

Keywords

Interpro

PROSITE

Pfam

Protein-protein interaction

Protein-miRNA interaction