ARHGEF7
Rho Guanine Nucleotide Exchange Factor 7
Gene Information Card
| Symbol | ARHGEF7 |
|---|---|
| Full Name | Rho guanine nucleotide exchange factor 7 |
| Gene Type | protein-coding |
| Chromosomal Location | 13q34 |
| NCBI Gene ID | 8874 ncbi.nlm.nih.gov/gene/8874 |
| Ensembl ID | ENSG00000102606 |
| UniProt ID | Q14155 |
| OMIM ID | 605477 |
| HGNC ID | 684 |
| Aliases | PIXB, COOL-1, Nbla10314, PAK3BP |
Description
ARHGEF7 (Rho guanine nucleotide exchange factor 7) encodes a protein that activates Rho GTPases by exchanging GDP for GTP. It is involved in cell migration, cytoskeletal organization, and cell polarity. The protein interacts with PAK kinases and is implicated in cancer progression and neurodevelopmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered GEF activity promotes cell migration and invasion via Rac1/Cdc42 activation | COSMIC, PubMed |
| Intellectual disability | Loss-of-function mutations disrupt synaptic signaling and dendritic spine morphology | ClinVar, OMIM |
| Epilepsy | Missense variants impair neuronal migration and synaptic plasticity | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 15.2 | Medium |
| Lung | 10.8 | Medium |
| Kidney | 9.5 | Low |
| Liver | 6.3 | Low |
| Testis | 12.1 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 14.5 | High expression |
| HeLa | 11.2 | Moderate expression |
| SH-SY5Y | 13.8 | High expression |
| A549 | 9.7 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1250G>A (p.Arg417His) | Missense | <0.01% | Altered GEF activity; associated with intellectual disability |
| c.1876C>T (p.Arg626Trp) | Missense | <0.01% | Impaired PAK binding; linked to epilepsy |
| c.234delC (p.Pro78fs) | Frameshift | Rare | Loss of function; reported in cancer |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations reduce or abolish GEF activity, impairing cytoskeletal dynamics.
Gain of Function (GOF)
Missense mutations that increase Rac1/Cdc42 activation may promote oncogenic signaling.
Dominant Negative (DN)
Some missense variants may interfere with wild-type protein function, disrupting PAK interaction.
View complete mutation data：
Gene Ontology (GO)
| • Rho guanyl-nucleotide exchange factor activity | • GTPase activator activity |
| • protein binding | • cell migration |
| • cytoskeleton organization | • signal transduction |
Pathways
• Rho GTPase cycle
• PAK signaling
• Regulation of actin cytoskeleton
• Axon guidance
Protein Summary
The ARHGEF7 protein (also known as PIXB or COOL-1) is a 647-amino acid Rho guanine nucleotide exchange factor that activates Rac1 and Cdc42. It contains a DH (Dbl homology) domain, a PH (pleckstrin homology) domain, and a SH3 domain. It forms a complex with PAK kinases and is essential for cell migration, adhesion, and neuronal development.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ARHGEF7 Knockout HEK293 Cell Line | EDJ-KQ6387 | Human | 8874 | Details Get a Quote |
| ARHGEF7 Knockout HCT 116 Cell Line | EDJ-KQ30404 | Human | 8874 | Details Get a Quote |
| ARHGEF7 Knockout HeLa Cell Line | EDJ-KQ30405 | Human | 8874 | Details Get a Quote |
| ARHGEF7 Knockout A-549 Cell Line | EDJ-KQ63511 | Human | 8874 | Details Get a Quote |
