ARHGAP18
Rho GTPase Activating Protein 18
Gene Information Card
| Symbol | ARHGAP18 |
|---|---|
| Full Name | Rho GTPase Activating Protein 18 |
| Gene Type | protein-coding |
| Chromosomal Location | 6q22.33 |
| NCBI Gene ID | 93663 ncbi.nlm.nih.gov/gene/93663 |
| Ensembl ID | ENSG00000146374 |
| UniProt ID | Q8N392 |
| OMIM ID | 616580 |
| HGNC ID | 25535 |
| Aliases | RhoGAP18, SENEX, bA307O14.2 |
Description
ARHGAP18 encodes a member of the Rho GTPase-activating protein (RhoGAP) family. The protein contains a RhoGAP domain that catalyzes the conversion of active GTP-bound Rho GTPases to the inactive GDP-bound form, thereby negatively regulating Rho-mediated signaling. ARHGAP18 is involved in cytoskeletal organization, cell migration, and angiogenesis. It has been implicated as a tumor suppressor in various cancers and plays a role in endothelial cell function and senescence.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Loss of ARHGAP18 expression promotes RhoA activation and cell migration, contributing to metastasis | PMID: 24987033 |
| Gastric cancer | Downregulation of ARHGAP18 correlates with poor prognosis and increased invasion via RhoA/ROCK pathway | PMID: 28407147 |
| Hepatocellular carcinoma | Reduced ARHGAP18 expression associated with tumor progression and metastasis | PMID: 29323331 |
| Colorectal cancer | ARHGAP18 suppresses tumor growth and invasion through inhibition of RhoA signaling | PMID: 27840973 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 12.5 | Medium |
| Breast | 8.3 | Low |
| Liver | 6.1 | Low |
| Colon | 10.2 | Medium |
| Stomach | 9.8 | Medium |
| Kidney | 7.4 | Low |
| Brain | 4.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 11.3 | Moderate expression |
| HepG2 (liver cancer) | 7.8 | Low expression |
| A549 (lung cancer) | 14.1 | Moderate expression |
| HeLa (cervical cancer) | 9.5 | Low expression |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1045C>T (p.Arg349*) | Nonsense | <0.1% | Loss of function, truncation of RhoGAP domain |
| c.782G>A (p.Arg261His) | Missense | <0.1% | Unknown effect, located in RhoGAP domain |
| c.1234_1235insA (p.Thr412Asnfs*3) | Frameshift | <0.1% | Loss of function, premature stop codon |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations that truncate the protein or disrupt the RhoGAP domain lead to loss of GTPase-activating activity, resulting in sustained RhoA activation and increased cell migration.
Gain of Function (GOF)
No gain-of-function mutations have been reported for ARHGAP18.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for ARHGAP18.
View complete mutation data:
Gene Ontology (GO)
| • Rho GTPase activator activity | • GTPase activator activity |
| • actin cytoskeleton organization | • cell migration |
| • negative regulation of cell migration | • signal transduction |
| • Rho protein signal transduction | • intracellular signal transduction |
Pathways
• Rho GTPase cycle
• Signaling by Rho GTPases
• RhoA signaling pathway
• Regulation of actin cytoskeleton
Protein Summary
ARHGAP18 is a 663-amino acid protein containing an N-terminal RhoGAP domain (residues 249-447) that specifically inactivates RhoA by stimulating its intrinsic GTPase activity. The protein localizes to the cytoplasm and cell membrane. It regulates actin stress fiber formation, focal adhesion dynamics, and cell contractility. ARHGAP18 is widely expressed in adult tissues, with highest levels in lung and colon. It functions as a tumor suppressor by limiting RhoA-driven cell motility and invasion. In endothelial cells, ARHGAP18 promotes senescence and inhibits angiogenesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ARHGAP18 Knockout HEK293 Cell Line | EDJ-KQ11254 | Human | 93663 | Details Get a Quote |
| ARHGAP18 Knockout A-549 Cell Line | EDJ-KQ39348 | Human | 93663 | Details Get a Quote |
| ARHGAP18 Knockout HCT 116 Cell Line | EDJ-KQ39349 | Human | 93663 | Details Get a Quote |
| ARHGAP18 Knockout HeLa Cell Line | EDJ-KQ39350 | Human | 93663 | Details Get a Quote |
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