ILK (Integrin Linked Kinase) Gene
A key mediator of integrin signaling and cell-matrix adhesion
Gene Information Card
| Symbol | ILK |
|---|---|
| Full Name | Integrin Linked Kinase |
| Gene Type | protein-coding |
| Chromosomal Location | 11p15.4 |
| NCBI Gene ID | 3611 ncbi.nlm.nih.gov/gene/3611 |
| Ensembl ID | ENSG00000166333 |
| UniProt ID | Q13418 |
| OMIM ID | 602366 |
| HGNC ID | 6040 |
| Aliases | ILK-1, ILK1, p59ILK |
Description
ILK (Integrin Linked Kinase) encodes a serine/threonine protein kinase that localizes to focal adhesions and interacts with the cytoplasmic domains of integrin beta subunits. It functions as a scaffold protein linking integrins to the actin cytoskeleton and regulates downstream signaling pathways including PI3K/AKT and GSK3B. ILK is essential for cell adhesion, migration, proliferation, and survival.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cardiomyopathy, dilated (CMD) | Loss-of-function mutations in ILK disrupt integrin-mediated signaling in cardiac myocytes, leading to impaired contractility and dilated cardiomyopathy. | ClinVar, OMIM |
| Cardiomyopathy, hypertrophic (HCM) | Missense variants in ILK alter kinase activity and scaffold function, contributing to myocyte hypertrophy and disarray. | ClinVar, OMIM |
| Cancer (multiple types) | ILK overexpression and aberrant activation promote tumor cell invasion, metastasis, and resistance to anoikis via AKT and FAK pathways. | COSMIC, NCBI |
| Nephrotic syndrome (congenital) | Biallelic loss-of-function ILK mutations impair podocyte adhesion and glomerular basement membrane integrity. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Skeletal Muscle | 10.8 | Medium |
| Kidney | 8.2 | Medium |
| Liver | 6.1 | Low |
| Brain | 5.4 | Low |
| Lung | 7.9 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.3 | Cervical adenocarcinoma |
| A549 | 12.1 | Lung carcinoma |
| MCF7 | 9.8 | Breast adenocarcinoma |
| HEK293 | 11.4 | Embryonic kidney |
| HepG2 | 7.6 | Hepatocellular carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.775G>A (p.Gly259Arg) | Missense | <0.01% | Impaired kinase activity; associated with dilated cardiomyopathy |
| c.1048C>T (p.Arg350Trp) | Missense | <0.01% | Reduced integrin binding; linked to hypertrophic cardiomyopathy |
| c.1A>G (p.Met1Val) | Start loss | <0.01% | Loss of protein expression; congenital nephrotic syndrome |
| c.1462C>T (p.Arg488*) | Nonsense | <0.01% | Truncated protein; loss of function in podocytes |
Mutation functional classification
Loss of Function (LOF)
Missense and nonsense mutations that disrupt kinase activity or scaffold interactions (e.g., p.Gly259Arg, p.Arg488*) lead to loss of ILK function, impairing cell adhesion and signaling.
Gain of Function (GOF)
Overexpression or activating mutations (rare) enhance AKT phosphorylation and promote cell survival and invasion in cancers.
Dominant Negative (DN)
Some missense variants (e.g., p.Arg350Trp) may act in a dominant-negative manner by competing with wild-type ILK for integrin binding, disrupting focal adhesion assembly.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Integrin signaling pathway (PID: 000003)
• PI3K/AKT signaling pathway (Reactome: R-HSA-1257604)
• Focal adhesion pathway (KEGG: hsa04510)
• Regulation of actin cytoskeleton (KEGG: hsa04810)
• Cell junction organization (Reactome: R-HSA-446728)
Protein Summary
ILK is a 59 kDa serine/threonine protein kinase composed of an N-terminal ankyrin repeat domain, a central pleckstrin homology (PH)-like domain, and a C-terminal kinase domain. It localizes to focal adhesions where it binds integrin beta subunits, PINCH, and parvin to form the IPP complex. ILK regulates cytoskeletal dynamics, cell adhesion, and survival through phosphorylation of AKT, GSK3B, and other substrates. Its expression is ubiquitous with higher levels in heart, skeletal muscle, and kidney.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CILK1 Knockout HEK293 Cell Line | EDJ-KQ2773 | Human | 22858 | Details Get a Quote |
| ILKAP Knockout HEK293 Cell Line | EDJ-KQ9595 | Human | 80895 | Details Get a Quote |
| CILK1 Knockout HCT 116 Cell Line | EDJ-KQ22315 | Human | 22858 | Details Get a Quote |
| CILK1 Knockout A-549 Cell Line | EDJ-KQ23683 | Human | 22858 | Details Get a Quote |
| CILK1 Knockout HeLa Cell Line | EDJ-KQ23684 | Human | 22858 | Details Get a Quote |
| ILKAP Knockout A-549 Cell Line | EDJ-KQ36427 | Human | 80895 | Details Get a Quote |
| ILKAP Knockout HCT 116 Cell Line | EDJ-KQ36428 | Human | 80895 | Details Get a Quote |
| ILKAP Knockout HeLa Cell Line | EDJ-KQ36429 | Human | 80895 | Details Get a Quote |
| ILKAP Knockout HAP1 Cell Line | EDC08313 | Human | 80895 | Details Get a Quote |
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