ARHGEF10L Gene
Rho Guanine Nucleotide Exchange Factor 10 Like
Gene Information Card
| Symbol | ARHGEF10L |
|---|---|
| Full Name | Rho guanine nucleotide exchange factor 10 like |
| Gene Type | protein-coding |
| Chromosomal Location | 1p36.13 |
| NCBI Gene ID | 55160 ncbi.nlm.nih.gov/gene/55160 |
| Ensembl ID | ENSG00000117519 |
| UniProt ID | Q6ZSZ5 |
| OMIM ID | 618978 |
| HGNC ID | 25582 |
| Aliases | GEF10L, FLJ10718, MGC138207 |
Description
ARHGEF10L (Rho guanine nucleotide exchange factor 10 like) is a protein-coding gene that encodes a guanine nucleotide exchange factor (GEF) for Rho GTPases. It activates RhoA, Rac1, and Cdc42 by catalyzing the exchange of GDP for GTP, thereby regulating cytoskeletal dynamics, cell migration, and cell polarity. The gene is located on chromosome 1p36.13 and is expressed in multiple tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Intellectual disability | Disruption of Rho GTPase signaling affecting neuronal development | ClinVar: pathogenic variants reported |
| Autism spectrum disorder | Altered synaptic plasticity via Rho pathway dysregulation | ClinVar: rare missense variants |
| Schizophrenia | Impaired dendritic spine morphology | OMIM: 618978 association |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.3 | Low |
| Lung | 6.1 | Low |
| Heart | 4.2 | Low |
| Liver | 2.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.2 | Neuronal model |
| HEK293 (embryonic kidney) | 9.8 | High expression |
| HeLa (cervical carcinoma) | 5.4 | Moderate |
| A549 (lung carcinoma) | 3.1 | Low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.226C>T (p.Arg76Trp) | Missense | <0.01% | Loss of GEF activity |
| c.1057G>A (p.Gly353Arg) | Missense | <0.01% | Reduced RhoA activation |
| c.1489_1491del (p.Lys497del) | In-frame deletion | <0.01% | Altered protein stability |
Mutation functional classification
Loss of Function (LOF)
Missense variants (e.g., p.Arg76Trp) impair GEF catalytic activity, reducing Rho GTPase activation.
Gain of Function (GOF)
Not reported in literature or curated databases.
Dominant Negative (DN)
Not reported in literature or curated databases.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Rho GTPase cycle (Reactome: R-HSA-194840)
• Signaling by Rho family GTPases (Reactome: R-HSA-194315)
• Rac1/Pak1/p38/MMP2 pathway (KEGG: hsa04810)
Protein Summary
ARHGEF10L encodes a 1086-amino acid protein containing a Dbl homology (DH) domain and a pleckstrin homology (PH) domain, characteristic of RhoGEFs. It localizes to the cytoplasm and plasma membrane, and functions as an activator of RhoA, Rac1, and Cdc42. The protein is involved in neurite outgrowth, cell migration, and cytoskeletal remodeling. Alternative splicing yields multiple isoforms.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ARHGEF10L Knockout HEK293 Cell Line | EDJ-KQ12414 | Human | 55160 | 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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