ARHGAP30
Rho GTPase Activating Protein 30
Gene Information Card
| Symbol | ARHGAP30 |
|---|---|
| Full Name | Rho GTPase Activating Protein 30 |
| Gene Type | Protein coding |
| Chromosomal Location | 1q23.3 |
| NCBI Gene ID | 257106 ncbi.nlm.nih.gov/gene/257106 |
| Ensembl ID | ENSG00000186517 |
| UniProt ID | Q7Z6I6 |
| OMIM ID | 610591 |
| HGNC ID | 25431 |
| Aliases | KIAA1312, MGC138290 |
Description
ARHGAP30 (Rho GTPase Activating Protein 30) is a protein-coding gene that 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 pathways involved in cytoskeletal organization, cell migration, and proliferation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal cancer | Altered expression may contribute to tumor progression via dysregulation of Rho GTPase signaling | PMID: 23431147 |
| Lung cancer | Potential tumor suppressor role through modulation of cell adhesion and migration | PMID: 25605248 |
| Breast cancer | Reduced expression associated with poor prognosis and increased metastatic potential | PMID: 27397505 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 12.5 | Medium |
| Spleen | 10.8 | Medium |
| Testis | 9.2 | Medium |
| Brain | 6.1 | Low |
| Heart | 5.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (lung carcinoma) | 14.3 | Moderate expression |
| HCT116 (colorectal carcinoma) | 11.7 | Moderate expression |
| MCF7 (breast adenocarcinoma) | 8.9 | Low expression |
| HEK293 (embryonic kidney) | 7.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1123C>T (p.Arg375*) | Nonsense | <0.1% | Premature truncation, likely loss of function |
| c.1456G>A (p.Gly486Arg) | Missense | <0.1% | Unknown significance |
| c.789_790insA | Frameshift | <0.1% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated or absent protein, impairing RhoGAP activity.
Gain of Function (GOF)
Not reported in curated databases.
Dominant Negative (DN)
Not reported in curated databases.
View complete mutation data：
Gene Ontology (GO)
| • Rho GTPase activator activity | • GTPase activator activity |
| • cytosol | • cytoplasm |
| • cell projection | • regulation of cell migration |
| • signal transduction | • negative regulation of Rho protein signal transduction |
Pathways
• Rho GTPase cycle
• Signaling by Rho GTPases
• Regulation of actin cytoskeleton
Protein Summary
The ARHGAP30 protein is a 1,032-amino acid Rho GTPase-activating protein that contains a RhoGAP domain. It inactivates Rho family GTPases (e.g., RhoA, Rac1, Cdc42) by stimulating their intrinsic GTPase activity, thereby regulating actin dynamics, cell adhesion, and migration. The protein is widely expressed in human tissues and may function as a tumor suppressor in certain cancers.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ARHGAP30 Knockout HEK293 Cell Line | EDJ-KQ11859 | Human | 257106 | Details Get a Quote |
| ARHGAP30 Knockout HeLa Cell Line | EDJ-KQ59319 | Human | 257106 | Details Get a Quote |
| ARHGAP30 Knockout A-549 Cell Line | EDJ-KQ67785 | Human | 257106 | Details Get a Quote |
| ARHGAP30 Knockout HCT 116 Cell Line | EDJ-KQ76168 | Human | 257106 | Details Get a Quote |
