ARHGEF16
Rho Guanine Nucleotide Exchange Factor 16
Gene Information Card
| Symbol | ARHGEF16 |
|---|---|
| Full Name | Rho guanine nucleotide exchange factor 16 |
| Gene Type | protein-coding |
| Chromosomal Location | 1p36.13 |
| NCBI Gene ID | 27237 ncbi.nlm.nih.gov/gene/27237 |
| Ensembl ID | ENSG00000117569 |
| UniProt ID | Q5VZF2 |
| OMIM ID | 617753 |
| HGNC ID | 25999 |
| Aliases | GEF16, KIAA1618 |
Description
ARHGEF16 encodes a Rho guanine nucleotide exchange factor (GEF) that activates Rho family GTPases by catalyzing the exchange of GDP for GTP. This protein plays a role in cytoskeletal reorganization, cell migration, and signal transduction pathways.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Dysregulation of Rho GTPase signaling via ARHGEF16 overexpression or mutation may promote tumor cell migration and invasion. | COSMIC, ClinVar |
| Neurodevelopmental disorders | Potential involvement in neuronal migration and synaptic function; limited direct evidence. | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.3 | Low |
| Lung | 6.1 | Low |
| Liver | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.0 | Moderate expression |
| HeLa | 10.2 | Low expression |
| A549 | 7.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.100C>T (p.Arg34Trp) | Missense | 0.01% | Unknown functional effect |
| c.250G>A (p.Gly84Arg) | Missense | 0.005% | Predicted damaging (SIFT) |
Mutation functional classification
Loss of Function (LOF)
Not well characterized; some missense variants may impair GEF activity.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • Rho guanyl-nucleotide exchange factor activity | • GTPase activator activity |
| • cytosol | • plasma membrane |
| • signal transduction | • regulation of Rho protein signal transduction |
Pathways
• Rho GTPase cycle
• Signaling by Rho GTPases
• Axon guidance
Protein Summary
ARHGEF16 is a 710-amino acid protein containing a Dbl homology (DH) domain and a pleckstrin homology (PH) domain, characteristic of Rho GEFs. It specifically activates Rho GTPases such as RhoA, Rac1, and Cdc42, influencing actin cytoskeleton dynamics and cell morphology.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ARHGEF16 Knockout HEK293 Cell Line | EDJ-KQ8721 | Human | 27237 | Details Get a Quote |
| ARHGEF16 Knockout A-549 Cell Line | EDJ-KQ34953 | Human | 27237 | Details Get a Quote |
| ARHGEF16 Knockout HCT 116 Cell Line | EDJ-KQ34954 | Human | 27237 | Details Get a Quote |
| ARHGEF16 Knockout HeLa Cell Line | EDJ-KQ34955 | Human | 27237 | Details Get a Quote |
