CDC42EP2
CDC42 Effector Protein 2
Gene Information Card
| Symbol | CDC42EP2 |
|---|---|
| Full Name | CDC42 effector protein 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 11q13.1 |
| NCBI Gene ID | 10435 ncbi.nlm.nih.gov/gene/10435 |
| Ensembl ID | ENSG00000149311 |
| UniProt ID | O14613 |
| OMIM ID | 606132 |
| HGNC ID | 16999 |
| Aliases | BORG1, CEP2, MSE55 |
Description
CDC42EP2 (CDC42 effector protein 2) encodes a member of the CDC42-binding protein family. The protein binds specifically to activated CDC42, a small Rho GTPase, and regulates cytoskeletal organization, cell polarity, and cell migration. It is involved in septin filament organization and actin dynamics.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Overexpression may promote cell migration and invasion via CDC42 signaling | COSMIC, PubMed |
| Pancreatic cancer | Altered expression linked to tumor progression | COSMIC |
| Colorectal cancer | Potential role in cytoskeletal remodeling and metastasis | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Skeletal muscle | 10.8 | Medium |
| Lung | 8.3 | Low |
| Kidney | 7.1 | Low |
| Liver | 4.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.2 | Cervical cancer cell line |
| A549 | 11.4 | Lung carcinoma cell line |
| MCF7 | 9.8 | Breast cancer cell line |
| HEK293 | 7.6 | Embryonic kidney cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.200C>T | Missense | <0.1% | p.Thr67Ile; unknown significance |
| c.415G>A | Missense | <0.1% | p.Gly139Arg; unknown significance |
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)
| • protein binding (GO:0005515) | • cytoplasm (GO:0005737) |
| • cytoskeleton (GO:0005856) | • actin cytoskeleton organization (GO:0030036) |
| • actin cytoskeleton reorganization (GO:0031532) | • positive regulation of GTPase activity (GO:0043547) |
| • actin filament bundle assembly (GO:0051017) |
Pathways
• CDC42 signaling pathway
• Regulation of actin cytoskeleton
• Septin filament organization
Protein Summary
CDC42EP2 is a 167-amino acid protein that contains a CRIB (Cdc42/Rac interactive binding) domain. It localizes to the cytoplasm and cytoskeleton, where it binds activated CDC42 and promotes actin filament bundling and septin recruitment. It plays a role in cell shape control, migration, and cytokinesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CDC42EP2 Knockout HEK293 Cell Line | EDJ-KQ7045 | Human | 10435 | Details Get a Quote |
| CDC42EP2 Knockout A-549 Cell Line | EDJ-KQ31818 | Human | 10435 | Details Get a Quote |
| CDC42EP2 Knockout HCT 116 Cell Line | EDJ-KQ31819 | Human | 10435 | Details Get a Quote |
| CDC42EP2 Knockout HeLa Cell Line | EDJ-KQ31820 | Human | 10435 | Details Get a Quote |
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