ARHGAP5
Rho GTPase Activating Protein 5
Gene Information Card
| Symbol | ARHGAP5 |
|---|---|
| Full Name | Rho GTPase Activating Protein 5 |
| Gene Type | Protein coding |
| Chromosomal Location | 14q12 |
| NCBI Gene ID | 331 ncbi.nlm.nih.gov/gene/331 |
| Ensembl ID | ENSG00000100852 |
| UniProt ID | Q13017 |
| OMIM ID | 602680 |
| HGNC ID | 676 |
| Aliases | p190-B, RhoGAP5, KIAA0260 |
Description
ARHGAP5 encodes a member of the Rho GTPase-activating protein family. The protein stimulates the GTPase activity of Rho family members, converting them to the inactive GDP-bound state, thereby regulating cytoskeletal dynamics, cell migration, and proliferation. It is widely expressed and implicated in cancer progression and metastasis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Dysregulation of ARHGAP5 expression alters Rho GTPase signaling, promoting cell migration and invasion. | NCBI Gene, COSMIC |
| Breast cancer | Overexpression correlates with poor prognosis and increased metastatic potential. | ClinVar, COSMIC |
| Lung cancer | Altered expression linked to tumor growth and invasion. | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 8.3 | Low |
| Liver | 6.1 | Low |
| Kidney | 9.7 | Low |
| Testis | 15.2 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 10.1 | Cervical cancer cell line |
| A549 | 8.9 | Lung cancer cell line |
| MCF7 | 7.5 | Breast cancer cell line |
| HEK293 | 6.8 | Embryonic kidney cell line |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234G>A | Missense | <0.1% | Unknown functional impact |
| c.567_568del | Frameshift | <0.01% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations leading to truncated protein and loss of RhoGAP activity.
Gain of Function (GOF)
Not well documented; some missense variants may alter substrate specificity.
Dominant Negative (DN)
Not reported.
View complete mutation data:
Gene Ontology (GO)
| • Rho GTPase activator activity | • GTPase activator activity |
| • cytoskeleton | • cell migration |
| • signal transduction |
Pathways
• Rho GTPase cycle
• Signaling by Rho GTPases
• Regulation of actin cytoskeleton
Protein Summary
ARHGAP5 (p190-B RhoGAP) is a 1492-amino acid protein containing a RhoGAP domain that inactivates RhoA, Rac1, and Cdc42. It regulates actin dynamics, cell adhesion, and migration. The protein is involved in tumor suppression and metastasis modulation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ARHGAP5 Knockout HEK293 Cell Line | EDJ-KQ3422 | Human | 394 | Details Get a Quote |
| ARHGAP5 Knockout A-549 Cell Line | EDJ-KQ26474 | Human | 394 | Details Get a Quote |
| ARHGAP5 Knockout HCT 116 Cell Line | EDJ-KQ26475 | Human | 394 | Details Get a Quote |
| ARHGAP5 Knockout HeLa Cell Line | EDJ-KQ26476 | Human | 394 | Details Get a Quote |
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