ARHGEF17
Rho Guanine Nucleotide Exchange Factor 17
Gene Information Card
| Symbol | ARHGEF17 |
|---|---|
| Full Name | Rho guanine nucleotide exchange factor 17 |
| Gene Type | protein-coding |
| Chromosomal Location | 11q13.1 |
| NCBI Gene ID | 9828 ncbi.nlm.nih.gov/gene/9828 |
| Ensembl ID | ENSG00000137710 |
| UniProt ID | Q96PE2 |
| OMIM ID | 616371 |
| HGNC ID | 24086 |
| Aliases | P164, RhoGEF17, TEM4 |
Description
ARHGEF17 (Rho guanine nucleotide exchange factor 17) encodes a protein that activates Rho GTPases by catalyzing the exchange of GDP for GTP. It is involved in cytoskeletal reorganization, cell migration, and signal transduction. The gene is located on chromosome 11q13.1 and is expressed in various tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered Rho signaling due to ARHGEF17 mutations or expression changes may promote tumorigenesis and metastasis. | COSMIC; ClinVar |
| Neurodevelopmental disorders | Rare variants in ARHGEF17 have been associated with intellectual disability and developmental delay. | ClinVar; OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.3 | Medium |
| Brain | 8.7 | Low |
| Lung | 6.2 | Low |
| Liver | 4.1 | Low |
| Heart | 3.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.5 | Moderate expression |
| HeLa | 8.2 | Moderate expression |
| A549 | 6.8 | Low expression |
| MCF7 | 5.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.01% | Loss of function; truncation |
| c.567G>A (p.Glu189Lys) | Missense | 0.02% | Unknown functional effect |
| c.2345_2346insA | Frameshift | <0.01% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated or absent protein.
Gain of Function (GOF)
Not well documented; some missense variants may alter activity.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • GTPase activator activity | • Rho guanyl-nucleotide exchange factor activity |
| • cytoskeleton organization | • cell migration |
| • signal transduction |
Pathways
• Rho GTPase signaling
• Regulation of actin cytoskeleton
• Axon guidance
Protein Summary
ARHGEF17 is a 1650-amino acid protein containing a Dbl homology (DH) domain and a pleckstrin homology (PH) domain, characteristic of RhoGEFs. It activates RhoA and related GTPases, influencing actin dynamics and cell shape. The protein is widely expressed with higher levels in testis and brain.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ARHGEF17 Knockout HEK293 Cell Line | EDJ-KQ6767 | Human | 9828 | Details Get a Quote |
| ARHGEF17 Knockout A-549 Cell Line | EDJ-KQ31210 | Human | 9828 | Details Get a Quote |
| ARHGEF17 Knockout HeLa Cell Line | EDJ-KQ31211 | Human | 9828 | Details Get a Quote |
| ARHGEF17 Knockout HCT 116 Cell Line | EDJ-KQ29858 | Human | 9828 | Details Get a Quote |
