ARHGEF28
Rho Guanine Nucleotide Exchange Factor 28
Gene Information Card
| Symbol | ARHGEF28 |
|---|---|
| Full Name | Rho guanine nucleotide exchange factor 28 |
| Gene Type | protein-coding |
| Chromosomal Location | 5q35.3 |
| NCBI Gene ID | 64283 ncbi.nlm.nih.gov/gene/64283 |
| Ensembl ID | ENSG00000113522 |
| UniProt ID | Q8N1W1 |
| OMIM ID | 610605 |
| HGNC ID | 30317 |
| Aliases | KIAA1998, p190RhoGEF, RGNEF |
Description
ARHGEF28 (Rho guanine nucleotide exchange factor 28) encodes a protein that activates Rho GTPases by catalyzing the exchange of GDP for GTP. It is involved in cytoskeletal organization, cell migration, and neurite outgrowth. The gene is located on chromosome 5q35.3 and is expressed in multiple tissues, with highest levels in the nervous system.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Amyotrophic lateral sclerosis (ALS) | ARHGEF28 mutations may disrupt RhoA signaling, leading to motor neuron degeneration | ClinVar, OMIM |
| Prostate cancer | Overexpression of ARHGEF28 promotes RhoA activation and tumor cell invasion | COSMIC, PubMed |
| Breast cancer | Altered ARHGEF28 expression correlates with metastatic potential | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 15.2 | Medium |
| Testis | 10.8 | Medium |
| Lung | 6.5 | Low |
| Liver | 3.1 | Low |
| Heart | 4.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 12.3 | Neuronal model |
| HeLa (cervical) | 8.9 | Epithelial |
| MCF7 (breast) | 7.4 | Cancer cell line |
| A549 (lung) | 5.6 | Lung carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2876C>T (p.Pro959Leu) | Missense | <0.1% | Unknown significance; reported in ALS |
| c.4123G>A (p.Glu1375Lys) | Missense | <0.1% | Reported in ALS; potential loss of function |
| c.1234_1235insA | Frameshift | <0.01% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations in ARHGEF28 are predicted to cause loss of function, potentially impairing RhoA activation.
Gain of Function (GOF)
Missense mutations in the DH domain may lead to constitutive activation of RhoA, contributing to cancer cell invasion.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for ARHGEF28.
View complete mutation data：
Gene Ontology (GO)
| • Rho guanyl-nucleotide exchange factor activity | • GTPase activator activity |
| • cytoskeleton organization | • cell migration |
| • neuron projection development | • signal transduction |
Pathways
• Rho GTPase cycle
• Signaling by Rho family GTPases
• Axon guidance
Protein Summary
The ARHGEF28 protein (p190RhoGEF) contains a Dbl homology (DH) domain and a pleckstrin homology (PH) domain, typical of Rho GEFs. It specifically activates RhoA, regulating actin dynamics and cell morphology. The protein is implicated in neuronal development and cancer metastasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ARHGEF28 Knockout HEK293 Cell Line | EDJ-KQ12415 | Human | 64283 | Details Get a Quote |
| ARHGEF28 Knockout A-549 Cell Line | EDJ-KQ40032 | Human | 64283 | Details Get a Quote |
| ARHGEF28 Knockout HCT 116 Cell Line | EDJ-KQ41321 | Human | 64283 | Details Get a Quote |
| ARHGEF28 Knockout HeLa Cell Line | EDJ-KQ41322 | Human | 64283 | Details Get a Quote |
