ARHGEF19
Rho Guanine Nucleotide Exchange Factor 19
Gene Information Card
| Symbol | ARHGEF19 |
|---|---|
| Full Name | Rho guanine nucleotide exchange factor 19 |
| Gene Type | protein-coding |
| Chromosomal Location | 1p36.13 |
| NCBI Gene ID | 128272 ncbi.nlm.nih.gov/gene/128272 |
| Ensembl ID | ENSG00000142634 |
| UniProt ID | Q8N1W1 |
| OMIM ID | 618147 |
| HGNC ID | 28334 |
| Aliases | GEF19, WGEF, PLEKHG5-like |
Description
ARHGEF19 encodes a Rho guanine nucleotide exchange factor (RhoGEF) that activates Rho GTPases, particularly RhoA and RhoC, by catalyzing the exchange of GDP for GTP. This protein plays a role in cytoskeletal reorganization, cell migration, and adhesion. It is involved in signaling pathways downstream of G protein-coupled receptors and may contribute to cancer progression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Overexpression of ARHGEF19 enhances RhoA/RhoC activity, promoting cell migration and invasion | PMID: 25609812 |
| Colorectal cancer | ARHGEF19 upregulation correlates with poor prognosis and increased metastatic potential | PMID: 27323851 |
| Gastric cancer | ARHGEF19 amplification leads to RhoA activation and tumor growth | PMID: 29059163 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 5.2 | Low |
| Heart | 3.8 | Low |
| Kidney | 4.1 | Low |
| Liver | 2.9 | Low |
| Lung | 6.7 | Medium |
| Placenta | 8.3 | Medium |
| Testis | 12.1 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 7.5 | Moderate expression |
| HeLa | 9.2 | Moderate expression |
| MCF7 | 11.3 | High expression |
| A549 | 6.8 | Medium expression |
| HCT116 | 10.1 | High expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1250G>A (p.Arg417Gln) | Missense | <0.01% | Unknown functional effect |
| c.1873C>T (p.Arg625Trp) | Missense | <0.01% | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in COSMIC or ClinVar.
Gain of Function (GOF)
Amplification and overexpression observed in several cancers, suggesting potential gain-of-function.
Dominant Negative (DN)
No dominant-negative mutations documented.
View complete mutation data：
Gene Ontology (GO)
| • Rho guanyl-nucleotide exchange factor activity | • GTPase activator activity |
| • cytosol | • plasma membrane |
| • cell projection | • regulation of Rho protein signal transduction |
| • actin cytoskeleton organization | • cell migration |
Pathways
• Rho GTPase cycle
• Signaling by Rho family GTPases
• RhoA signaling pathway
• G alpha (12/13) signalling events
Protein Summary
ARHGEF19 is a 1038-amino acid protein containing a Dbl homology (DH) domain and a pleckstrin homology (PH) domain, characteristic of RhoGEFs. It specifically activates RhoA and RhoC, regulating actin dynamics and cell motility. The protein is localized to the plasma membrane and cellular protrusions. Overexpression in various cancers suggests a role in tumor progression and metastasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ARHGEF19 Knockout HEK293 Cell Line | EDJ-KQ9156 | Human | 128272 | Details Get a Quote |
| ARHGEF19 Knockout HCT 116 Cell Line | EDJ-KQ34457 | Human | 128272 | Details Get a Quote |
| ARHGEF19 Knockout A-549 Cell Line | EDJ-KQ35701 | Human | 128272 | Details Get a Quote |
| ARHGEF19 Knockout HeLa Cell Line | EDJ-KQ35703 | Human | 128272 | Details Get a Quote |
