ILKAP Gene - Integrin Linked Kinase Associated Serine/Threonine Phosphatase
A key regulator of integrin-mediated signaling and cell adhesion
Gene Information Card
| Symbol | ILKAP |
|---|---|
| Full Name | Integrin Linked Kinase Associated Serine/Threonine Phosphatase |
| Gene Type | Protein coding |
| Chromosomal Location | 2q37.3 |
| NCBI Gene ID | 80895 ncbi.nlm.nih.gov/gene/80895 |
| Ensembl ID | ENSG00000162909 |
| UniProt ID | Q9H0C8 |
| OMIM ID | 606232 |
| HGNC ID | 20568 |
| Aliases | ILKAP, ILKAP1, PP2C-delta |
Description
The ILKAP gene encodes integrin linked kinase associated serine/threonine phosphatase, a member of the protein phosphatase 2C (PP2C) family. This enzyme negatively regulates integrin-mediated signaling by dephosphorylating and inactivating integrin linked kinase (ILK), thereby modulating cell adhesion, migration, and survival pathways.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal cancer | ILKAP downregulation leads to increased ILK activity, promoting β-catenin/TCF signaling and tumor progression | PMID: 15674327 |
| Hepatocellular carcinoma | Reduced ILKAP expression correlates with enhanced ILK signaling and poor prognosis | PMID: 20053712 |
| Breast cancer | ILKAP loss contributes to ILK-mediated Akt activation and cell proliferation | PMID: 17699752 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 8.2 | Medium |
| Liver | 6.5 | Medium |
| Kidney | 5.1 | Low |
| Brain | 4.3 | Low |
| Lung | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 7.1 | Embryonic kidney cells |
| HepG2 | 6.8 | Hepatocellular carcinoma cells |
| MCF7 | 5.9 | Breast cancer cells |
| HeLa | 4.5 | Cervical cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.487C>T (p.Arg163Trp) | Missense | <0.01% | Unknown functional impact |
| c.1024G>A (p.Gly342Ser) | Missense | <0.01% | Unknown functional impact |
Mutation functional classification
Loss of Function (LOF)
Reduced phosphatase activity leading to increased ILK signaling
Gain of Function (GOF)
Not reported
Dominant Negative (DN)
Not reported
View complete mutation data：
Gene Ontology (GO)
| • protein serine/threonine phosphatase activity | • magnesium ion binding |
| • negative regulation of cell adhesion | • negative regulation of protein phosphorylation |
| • cytoplasm |
Pathways
• Integrin signaling pathway
• PI3K/Akt signaling pathway
• Wnt/β-catenin signaling pathway
Protein Summary
ILKAP is a 392-amino acid protein belonging to the PP2C family of serine/threonine phosphatases. It contains a catalytic domain that requires magnesium ions for activity. ILKAP directly interacts with and dephosphorylates integrin linked kinase (ILK), thereby inhibiting downstream signaling cascades including Akt and β-catenin pathways. The protein is predominantly cytoplasmic and is widely expressed in human tissues.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ILKAP Knockout HEK293 Cell Line | EDJ-KQ9595 | Human | 80895 | 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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