CDC42EP3
CDC42 Effector Protein 3
Gene Information Card
| Symbol | CDC42EP3 |
|---|---|
| Full Name | CDC42 effector protein 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 2p21 |
| NCBI Gene ID | 10602 ncbi.nlm.nih.gov/gene/10602 |
| Ensembl ID | ENSG00000163161 |
| UniProt ID | Q9H2C1 |
| OMIM ID | 606132 |
| HGNC ID | 17031 |
| Aliases | BORG2, CEP3, MSE55 |
Description
CDC42EP3 (CDC42 effector protein 3) encodes a member of the CDC42 effector protein family. The protein binds to and regulates the activity of the small GTPase CDC42, influencing cytoskeletal organization, cell polarity, and cell migration. It is also known as BORG2 (binder of Rho GTPases 2).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Overexpression of CDC42EP3 may promote cell migration and invasion via CDC42 signaling | COSMIC; PMID: 23454898 |
| Colorectal cancer | Altered expression linked to cytoskeletal remodeling and metastasis | COSMIC; PMID: 25691885 |
| Prostate cancer | Potential role in CDC42-mediated cell motility | COSMIC; PMID: 27050027 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Brain | 8.3 | Low |
| Lung | 15.2 | Medium |
| Liver | 6.1 | Low |
| Kidney | 18.7 | Medium |
| Testis | 22.4 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 14.5 | Cervical cancer cell line |
| A549 | 16.8 | Lung cancer cell line |
| MCF7 | 11.2 | Breast cancer cell line |
| HEK293 | 9.7 | Embryonic kidney cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.374C>T (p.Thr125Met) | Missense | <0.01% | Unknown functional impact; rare in population |
| c.521A>G (p.Asn174Ser) | Missense | <0.01% | Unknown functional impact; rare in population |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • cytoskeleton organization | • cell migration |
| • signal transduction | • protein binding |
| • GTPase activator activity |
Pathways
• CDC42 signaling pathway
• Regulation of actin cytoskeleton
Protein Summary
CDC42EP3 is a 267-amino acid protein that localizes to the cytoplasm and interacts with CDC42 via a CRIB domain. It modulates actin polymerization and cell shape changes, playing a role in cell migration and division.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CDC42EP3 Knockout HEK293 Cell Line | EDJ-KQ7105 | Human | 10602 | Details Get a Quote |
| CDC42EP3 Knockout A-549 Cell Line | EDJ-KQ31960 | Human | 10602 | Details Get a Quote |
| CDC42EP3 Knockout HCT 116 Cell Line | EDJ-KQ31961 | Human | 10602 | Details Get a Quote |
| CDC42EP3 Knockout HeLa Cell Line | EDJ-KQ31962 | Human | 10602 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
