ARHGAP11A
Rho GTPase Activating Protein 11A
Gene Information Card
| Symbol | ARHGAP11A |
|---|---|
| Full Name | Rho GTPase Activating Protein 11A |
| Gene Type | Protein coding |
| Chromosomal Location | 15q13.2 |
| NCBI Gene ID | 9824 ncbi.nlm.nih.gov/gene/9824 |
| Ensembl ID | ENSG00000137807 |
| UniProt ID | Q6P4F7 |
| OMIM ID | 610609 |
| HGNC ID | 15783 |
| Aliases | GAP, KIAA0013, RhoGAP11A |
Description
ARHGAP11A encodes a member of the Rho GTPase-activating protein family. The protein contains a GAP domain that accelerates GTP hydrolysis of Rho family GTPases (RhoA, Rac1, Cdc42), thereby negatively regulating cytoskeletal remodeling, cell migration, and proliferation. ARHGAP11A is implicated in cancer progression and neurodevelopmental processes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Overexpression promotes cell migration and invasion via RhoA inactivation | PMID: 25605249 |
| Lung cancer | Amplification and overexpression correlate with poor prognosis | COSMIC CNV data |
| Neurodevelopmental disorders | Rare variants identified in patients with intellectual disability | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 8.3 | Low |
| Breast | 6.1 | Low |
| Testis | 15.2 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 9.8 | Moderate expression |
| A549 (lung cancer) | 11.2 | Moderate expression |
| HEK293 (embryonic kidney) | 7.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.01% | Truncation, likely loss of function |
| c.567G>A (p.Trp189*) | Nonsense | <0.01% | Premature stop, loss of GAP domain |
| c.890A>G (p.Tyr297Cys) | Missense | 0.02% | Unknown significance |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (p.Arg412*, p.Trp189*) predicted to cause nonsense-mediated decay or truncation of GAP domain.
Gain of Function (GOF)
Not reported in curated databases.
Dominant Negative (DN)
Not reported in curated databases.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Rho GTPase cycle (Reactome: R-HSA-194840)
• Signaling by Rho GTPases (Reactome: R-HSA-194315)
Protein Summary
ARHGAP11A is a 1023-amino acid protein containing an N-terminal GAP domain that inactivates RhoA, Rac1, and Cdc42 by stimulating their intrinsic GTPase activity. It localizes to the cytosol and regulates actin dynamics, cell adhesion, and proliferation. Overexpression in cancers suggests a role in tumor progression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ARHGAP11A Knockout HEK293 Cell Line | EDJ-KQ50911 | Human | 9824 | Details Get a Quote |
| ARHGAP11A Knockout HeLa Cell Line | EDJ-KQ55261 | Human | 9824 | Details Get a Quote |
| ARHGAP11A Knockout A-549 Cell Line | EDJ-KQ63741 | Human | 9824 | Details Get a Quote |
| ARHGAP11A Knockout HCT 116 Cell Line | EDJ-KQ72199 | Human | 9824 | Details Get a Quote |
