ARHGEF10
Rho Guanine Nucleotide Exchange Factor 10
Gene Information Card
| Symbol | ARHGEF10 |
|---|---|
| Full Name | Rho guanine nucleotide exchange factor 10 |
| Gene Type | protein-coding |
| Chromosomal Location | 8p23.3 |
| NCBI Gene ID | 9639 ncbi.nlm.nih.gov/gene/9639 |
| Ensembl ID | ENSG00000104714 |
| UniProt ID | O15013 |
| OMIM ID | 608236 |
| HGNC ID | 14581 |
| Aliases | GEF10, KIAA0294, MGC138207, MGC138209 |
Description
ARHGEF10 (Rho guanine nucleotide exchange factor 10) encodes a protein that activates Rho GTPases by catalyzing the exchange of GDP for GTP. It is involved in cytoskeletal organization, cell migration, and neuronal development. Mutations in ARHGEF10 are associated with peripheral neuropathy and other neurological disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Charcot-Marie-Tooth disease, axonal, type 2K | Missense mutations impair GEF activity leading to reduced RhoA activation and axonal degeneration | ClinVar, OMIM |
| Peripheral neuropathy, autosomal dominant, with or without deafness | Dominant-negative mutations disrupt Rho GTPase signaling in Schwann cells | OMIM, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Nerve | 8.3 | Low |
| Testis | 6.7 | Low |
| Adrenal gland | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 15.2 | Neuronal cell line |
| HeLa | 4.8 | Cervical carcinoma |
| HEK293 | 3.9 | Embryonic kidney |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.266C>T (p.Pro89Leu) | Missense | Rare | Reduced GEF activity, associated with neuropathy |
| c.1073G>A (p.Arg358Gln) | Missense | Rare | Dominant-negative effect, linked to CMT2K |
Mutation functional classification
Loss of Function (LOF)
Missense mutations (e.g., p.Pro89Leu) impair RhoA activation, leading to axonal degeneration.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
p.Arg358Gln disrupts normal GEF function and interferes with wild-type ARHGEF10.
View complete mutation data：
Gene Ontology (GO)
| • Rho guanyl-nucleotide exchange factor activity | • small GTPase binding |
| • intracellular signal transduction | • regulation of actin cytoskeleton organization |
| • neuron projection development |
Pathways
• Rho GTPase cycle
• Signaling by Rho family GTPases
• Axon guidance
Protein Summary
ARHGEF10 is a 710-amino acid protein containing a Dbl homology (DH) domain and a pleckstrin homology (PH) domain. It specifically activates RhoA and RhoB, regulating actin dynamics and cell morphology. The protein is highly expressed in neural tissues and plays a critical role in peripheral nerve myelination and axonal maintenance.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ARHGEF10 Knockout HEK293 Cell Line | EDJ-KQ6671 | Human | 9639 | Details Get a Quote |
| ARHGEF10L Knockout HEK293 Cell Line | EDJ-KQ12414 | Human | 55160 | Details Get a Quote |
| ARHGEF10 Knockout A-549 Cell Line | EDJ-KQ30981 | Human | 9639 | Details Get a Quote |
| ARHGEF10 Knockout HCT 116 Cell Line | EDJ-KQ30982 | Human | 9639 | Details Get a Quote |
| ARHGEF10 Knockout HeLa Cell Line | EDJ-KQ30983 | Human | 9639 | Details Get a Quote |
| ARHGEF10L Knockout A-549 Cell Line | EDJ-KQ41317 | Human | 55160 | Details Get a Quote |
| ARHGEF10L Knockout HCT 116 Cell Line | EDJ-KQ41318 | Human | 55160 | Details Get a Quote |
| ARHGEF10L Knockout HeLa Cell Line | EDJ-KQ41319 | Human | 55160 | Details Get a Quote |
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