ARHGAP42
Rho GTPase Activating Protein 42
Gene Information Card
| Symbol | ARHGAP42 |
|---|---|
| Full Name | Rho GTPase Activating Protein 42 |
| Gene Type | protein-coding |
| Chromosomal Location | 11q22.1 |
| NCBI Gene ID | 143872 ncbi.nlm.nih.gov/gene/143872 |
| Ensembl ID | ENSG00000165949 |
| UniProt ID | A1A4S6 |
| OMIM ID | 617985 |
| HGNC ID | 26545 |
| Aliases | GRAF3, GRAF-3, FLJ13154 |
Description
ARHGAP42 encodes a member of the Rho GTPase-activating protein (RhoGAP) family. The protein contains a GAP domain that specifically inactivates RhoA by accelerating GTP hydrolysis, thereby regulating actin cytoskeleton dynamics, cell migration, and vascular smooth muscle contraction. ARHGAP42 is highly expressed in vascular smooth muscle cells and is transcriptionally regulated by serum response factor (SRF) and myocardin. Genetic variants in ARHGAP42 are associated with blood pressure regulation and hypertension.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hypertension | Loss-of-function variants reduce RhoA inactivation, increasing vascular smooth muscle contractility and blood pressure. | ClinVar, OMIM |
| Cancer (breast, colorectal) | Altered expression may promote cell migration and invasion via RhoA dysregulation. | COSMIC, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Artery | 12.5 | High |
| Heart | 8.3 | Medium |
| Skeletal Muscle | 6.1 | Medium |
| Lung | 4.2 | Low |
| Kidney | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Aortic smooth muscle cells | 15.2 | High expression |
| HEK 293 | 2.1 | Low expression |
| HeLa | 1.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs11236878 (intronic) | SNV | 0.25 (global) | Associated with hypertension risk |
| c.1072C>T (p.Arg358*) | Nonsense | Rare | Loss of function, truncation |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations that truncate the GAP domain reduce RhoA inactivation, leading to increased contractility and hypertension risk.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Rho GTPase cycle (Reactome:R-HSA-194840)
• Signaling by Rho GTPases (Reactome:R-HSA-194315)
• Vascular smooth muscle contraction (KEGG:hsa04270)
Protein Summary
ARHGAP42 (GRAF3) is a 541-amino acid protein containing an N-terminal GAP domain and a C-terminal proline-rich region. It specifically inactivates RhoA by promoting GTP hydrolysis, thereby regulating actin stress fiber formation and cell contractility. The protein is predominantly expressed in vascular smooth muscle and is critical for maintaining normal blood pressure. Loss of ARHGAP42 function leads to sustained RhoA activity and hypertension.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ARHGAP42 Knockout HEK293 Cell Line | EDJ-KQ10395 | Human | 143872 | Details Get a Quote |
| ARHGAP42 Knockout A-549 Cell Line | EDJ-KQ37738 | Human | 143872 | Details Get a Quote |
| ARHGAP42 Knockout HCT 116 Cell Line | EDJ-KQ37739 | Human | 143872 | Details Get a Quote |
| ARHGAP42 Knockout HeLa Cell Line | EDJ-KQ37740 | Human | 143872 | Details Get a Quote |
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