ARHGAP40
Rho GTPase Activating Protein 40
Gene Information Card
| Symbol | ARHGAP40 |
|---|---|
| Full Name | Rho GTPase Activating Protein 40 |
| Gene Type | protein-coding |
| Chromosomal Location | 20q13.33 |
| NCBI Gene ID | 100506142 ncbi.nlm.nih.gov/gene/100506142 |
| Ensembl ID | ENSG00000204103 |
| UniProt ID | A6NIR3 |
| OMIM ID | - |
| HGNC ID | 37211 |
| Aliases | FLJ46361, MGC16384 |
Description
ARHGAP40 encodes a Rho GTPase-activating protein (RhoGAP) that negatively regulates Rho family GTPases by catalyzing the hydrolysis of GTP to GDP. This protein is involved in cytoskeletal reorganization, cell migration, and signal transduction. Expression is enriched in testis and certain immune cells.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Prostate cancer | Potential tumor suppressor via RhoA inactivation; reduced expression may promote invasion | COSMIC; limited functional studies |
| Colorectal cancer | Downregulation associated with poor prognosis; possible role in cell adhesion | COSMIC; literature |
| Breast cancer | Altered expression linked to metastasis; RhoGAP activity may modulate migration | COSMIC; literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Lymph node | 8.3 | Low |
| Spleen | 6.1 | Low |
| Brain | 2.0 | Not detected |
| Liver | 1.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.2 | Moderate expression |
| HeLa | 9.8 | Low expression |
| K562 | 7.4 | Low expression |
| MCF7 | 5.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Trp) | Missense | <0.1% (gnomAD) | Unknown; predicted damaging by SIFT |
| c.567_568insA | Frameshift | Rare | Likely loss of function |
| c.890G>A (p.Arg297Gln) | Missense | 0.01% | Unknown; benign prediction |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense variants predicted to truncate the RhoGAP domain, impairing GTPase activation.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • GTPase activator activity | • Rho GTPase binding |
| • cytosol | • cytoplasm |
| • signal transduction | • regulation of cell migration |
| • actin cytoskeleton organization |
Pathways
• Rho GTPase cycle
• Signaling by Rho family GTPases
• RAC1/PAK1 pathway
Protein Summary
ARHGAP40 is a 648-amino acid protein containing a RhoGAP domain. It inactivates RhoA, Rac1, and Cdc42 by stimulating GTP hydrolysis. The protein localizes to the cytoplasm and is implicated in cytoskeletal dynamics and cell motility. Expression is highest in testis and lymphoid tissues.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ARHGAP40 Knockout HEK293 Cell Line | EDJ-KQ12413 | Human | 343578 | Details Get a Quote |
| ARHGAP40 Knockout HCT 116 Cell Line | EDJ-KQ41316 | Human | 343578 | Details Get a Quote |
| ARHGAP40 Knockout HeLa Cell Line | EDJ-KQ59760 | Human | 343578 | Details Get a Quote |
| ARHGAP40 Knockout A-549 Cell Line | EDJ-KQ68229 | Human | 343578 | Details Get a Quote |
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