ARHGEF25
Rho Guanine Nucleotide Exchange Factor 25
Gene Information Card
| Symbol | ARHGEF25 |
|---|---|
| Full Name | Rho Guanine Nucleotide Exchange Factor 25 |
| Gene Type | protein-coding |
| Chromosomal Location | 12q13.12 |
| NCBI Gene ID | 115557 ncbi.nlm.nih.gov/gene/115557 |
| Ensembl ID | ENSG00000135446 |
| UniProt ID | Q5T0T0 |
| OMIM ID | 610524 |
| HGNC ID | 25521 |
| Aliases | GEF-H3, p63RhoGEF |
Description
ARHGEF25 encodes a Rho guanine nucleotide exchange factor that specifically activates RhoA by catalyzing the exchange of GDP for GTP. It is involved in cytoskeletal reorganization, cell migration, and smooth muscle contraction. The protein contains a Dbl homology (DH) domain and a pleckstrin homology (PH) domain.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hypertension | ARHGEF25 activates RhoA, leading to increased vascular smooth muscle contraction and elevated blood pressure. | PMID: 20037588 |
| Cancer (colorectal) | Overexpression of ARHGEF25 promotes RhoA-mediated cell proliferation and invasion. | PMID: 23431173 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.3 | Medium |
| Skeletal Muscle | 8.7 | Low |
| Brain | 5.2 | Low |
| Lung | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.6 | High expression |
| HeLa | 9.2 | Moderate expression |
| HUVEC | 6.8 | Low expression |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1045C>T (p.Arg349Trp) | Missense | 0.001% (gnomAD) | Unknown functional effect |
| c.782G>A (p.Arg261His) | Missense | 0.002% (gnomAD) | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported.
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
• RhoA signaling pathway
• G protein-coupled receptor signaling pathway
• Regulation of actin cytoskeleton
Protein Summary
ARHGEF25 (GEF-H3/p63RhoGEF) is a 580-amino acid protein containing DH and PH domains. It specifically activates RhoA but not Rac1 or Cdc42. The protein is localized to the cytoplasm and plasma membrane, and its activity is regulated by G protein-coupled receptors. It plays a role in smooth muscle contraction, cell adhesion, and migration.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ARHGEF25 Knockout HEK293 Cell Line | EDJ-KQ7523 | Human | 115557 | Details Get a Quote |
| ARHGEF25 Knockout A-549 Cell Line | EDJ-KQ32800 | Human | 115557 | Details Get a Quote |
| ARHGEF25 Knockout HCT 116 Cell Line | EDJ-KQ32801 | Human | 115557 | Details Get a Quote |
| ARHGEF25 Knockout HeLa Cell Line | EDJ-KQ32802 | Human | 115557 | Details Get a Quote |