PREX2 Gene
Phosphatidylinositol 3,4,5-Trisphosphate Dependent Rac Exchange Factor 2
Gene Information Card
| Symbol | PREX2 |
|---|---|
| Full Name | Phosphatidylinositol 3,4,5-Trisphosphate Dependent Rac Exchange Factor 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 8q13.2 |
| NCBI Gene ID | 80243 ncbi.nlm.nih.gov/gene/80243 |
| Ensembl ID | ENSG00000146856 |
| UniProt ID | Q70Z35 |
| OMIM ID | 612139 |
| HGNC ID | 25994 |
| Aliases | DEP.2, P-REX2, PIK3R2 |
Description
PREX2 encodes a guanine nucleotide exchange factor (GEF) that specifically activates the small GTPase Rac. It is regulated by phosphatidylinositol 3,4,5-trisphosphate (PIP3) and the beta-gamma subunits of heterotrimeric G proteins. PREX2 plays a role in cell migration, proliferation, and survival, and is implicated in various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Melanoma | PREX2 mutations (e.g., E824K, R1325*) are recurrent in melanoma and may activate Rac signaling, promoting tumor growth and metastasis. | COSMIC, ClinVar |
| Breast Cancer | PREX2 overexpression and amplification are associated with poor prognosis and may drive PI3K-dependent Rac activation. | NCBI Gene, COSMIC |
| Prostate Cancer | PREX2 expression is elevated in metastatic prostate cancer and correlates with Rac1 activation and invasive phenotype. | NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Breast | 8.3 | Low |
| Lung | 6.1 | Low |
| Skin | 4.7 | Low |
| Prostate | 3.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (lung) | 7.2 | Low expression |
| MCF7 (breast) | 5.8 | Low expression |
| SK-MEL-28 (melanoma) | 15.3 | Moderate expression |
| PC3 (prostate) | 9.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| E824K | Missense | 1.2% in melanoma | Likely gain-of-function; increases Rac-GEF activity |
| R1325* | Nonsense | 0.8% in melanoma | Loss-of-function; truncation may alter protein stability |
| Q1429H | Missense | 0.5% in breast cancer | Unknown; predicted to affect C-terminal domain |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., R1325*) that truncate the protein and reduce GEF activity.
Gain of Function (GOF)
Missense mutations (e.g., E824K) that enhance Rac activation and downstream signaling.
Dominant Negative (DN)
Not well characterized; some mutations may interfere with wild-type PREX2 function.
View complete mutation data：
Gene Ontology (GO)
Pathways
• PI3K-Akt signaling pathway (Reactome: R-HSA-1257604)
• Rac1 GTPase cycle (Reactome: R-HSA-9013405)
• Signaling by Rho GTPases (Reactome: R-HSA-194315)
Protein Summary
PREX2 is a 1606-amino acid protein containing a DEP domain, a PDZ domain, and a DH-PH tandem domain characteristic of RhoGEFs. It is activated by PIP3 and Gβγ subunits, leading to Rac1 activation. PREX2 is implicated in cytoskeletal reorganization, cell motility, and oncogenic transformation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PREX2 Knockout HEK293 Cell Line | EDJ-KQ9503 | Human | 80243 | Details Get a Quote |
| PREX2 Knockout HeLa Cell Line | EDJ-KQ57315 | Human | 80243 | Details Get a Quote |
| PREX2 Knockout A-549 Cell Line | EDJ-KQ65821 | Human | 80243 | Details Get a Quote |
| PREX2 Knockout HCT 116 Cell Line | EDJ-KQ74244 | Human | 80243 | Details Get a Quote |
