ARHGAP6
Rho GTPase Activating Protein 6
Gene Information Card
| Symbol | ARHGAP6 |
|---|---|
| Full Name | Rho GTPase Activating Protein 6 |
| Gene Type | Protein coding |
| Chromosomal Location | Xp22.31 |
| NCBI Gene ID | 395 ncbi.nlm.nih.gov/gene/395 |
| Ensembl ID | ENSG00000147044 |
| UniProt ID | Q13070 |
| OMIM ID | 300118 |
| HGNC ID | 676 |
| Aliases | GRAF, GRAF1, OPHN1L, RhoGAP6 |
Description
ARHGAP6 (Rho GTPase Activating Protein 6) is a protein-coding gene located on the X chromosome. It encodes a member of the RhoGAP family that negatively regulates RhoA and other Rho GTPases by stimulating their intrinsic GTPase activity, thereby inactivating them. This protein plays a critical role in actin cytoskeleton remodeling, cell migration, and neurite outgrowth. Mutations in ARHGAP6 are associated with X-linked intellectual disability and have been implicated in various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| X-linked intellectual disability | Loss-of-function mutations impair RhoA regulation, disrupting neuronal actin dynamics and synaptic function. | ClinVar, OMIM |
| Ovarian cancer | Frequent deletions and reduced expression lead to increased RhoA activity and tumor progression. | COSMIC, NCBI |
| Breast cancer | Epigenetic silencing and loss of heterozygosity contribute to invasive phenotype. | COSMIC, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 8.3 | Low |
| Lung | 6.1 | Low |
| Liver | 4.2 | Low |
| Ovary | 9.7 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.2 | Neuronal model |
| HeLa (cervical cancer) | 7.8 | Epithelial |
| MCF7 (breast cancer) | 5.4 | Low expression |
| OVCAR3 (ovarian cancer) | 3.1 | Reduced expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.118C>T (p.Arg40*) | Nonsense | Rare | Loss of function; truncation of GAP domain |
| c.497G>A (p.Arg166Gln) | Missense | 0.01% | Impaired GTPase activation |
| c.1054_1055del (p.Leu352fs) | Frameshift | Rare | Loss of function; protein truncation |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations that truncate the GAP domain, leading to loss of RhoA inactivation.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • Rho GTPase activator activity | • GTPase activator activity |
| • Actin cytoskeleton organization | • Cell migration |
| • Neuron projection development | • Signal transduction |
Pathways
• Rho GTPase cycle
• Signaling by Rho family GTPases
• Regulation of actin dynamics for phagocytic cup formation
Protein Summary
ARHGAP6 encodes a 847-amino acid protein containing an N-terminal BAR domain, a central PH domain, and a C-terminal RhoGAP domain. The BAR domain mediates membrane curvature sensing, the PH domain binds phosphoinositides, and the GAP domain catalyzes GTP hydrolysis on RhoA, Rac1, and Cdc42. The protein localizes to the cytoplasm and plasma membrane, regulating actin polymerization and cell morphology.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ARHGAP6 Knockout HEK293 Cell Line | EDJ-KQ3412 | Human | 395 | Details Get a Quote |
| ARHGAP6 Knockout HeLa Cell Line | EDJ-KQ52657 | Human | 395 | Details Get a Quote |
| ARHGAP6 Knockout A-549 Cell Line | EDJ-KQ61131 | Human | 395 | Details Get a Quote |
| ARHGAP6 Knockout HCT 116 Cell Line | EDJ-KQ69617 | Human | 395 | Details Get a Quote |
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