CDC42EP4
CDC42 Effector Protein 4
Gene Information Card
| Symbol | CDC42EP4 |
|---|---|
| Full Name | CDC42 effector protein 4 |
| Gene Type | protein-coding |
| Chromosomal Location | 17q25.3 |
| NCBI Gene ID | 23580 ncbi.nlm.nih.gov/gene/23580 |
| Ensembl ID | ENSG00000179604 |
| UniProt ID | Q9H3Q1 |
| OMIM ID | 614428 |
| HGNC ID | 17140 |
| Aliases | BORG4, CEP4 |
Description
CDC42EP4 (CDC42 effector protein 4) encodes a member of the CDC42 effector protein family. The protein binds to activated CDC42, a small Rho GTPase, and regulates actin cytoskeleton organization, cell polarity, and cell migration. It is involved in processes such as cytokinesis, filopodia formation, and cardiovascular development.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered expression may affect cell migration and invasion via cytoskeletal remodeling | COSMIC, literature |
| Cardiovascular disease | Involved in endothelial cell function and vascular development | OMIM, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Skeletal Muscle | 10.2 | Medium |
| Kidney | 8.9 | Medium |
| Liver | 6.1 | Low |
| Brain | 5.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.0 | Cervical cancer cell line |
| HEK293 | 12.3 | Embryonic kidney cells |
| HUVEC | 18.7 | Endothelial cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.123C>T | missense | <0.1% | Unknown functional impact |
| c.456G>A | synonymous | <0.1% | No predicted effect |
Mutation functional classification
Loss of Function (LOF)
Not well characterized; no confirmed loss-of-function variants reported.
Gain of Function (GOF)
Not well characterized; no confirmed gain-of-function variants reported.
Dominant Negative (DN)
Not well characterized; no confirmed dominant-negative variants reported.
View complete mutation data：
Gene Ontology (GO)
| • actin cytoskeleton organization | • cell migration |
| • cell polarity | • Rho protein signal transduction |
| • filopodium assembly |
Pathways
• CDC42 signaling
• Regulation of actin cytoskeleton
Protein Summary
CDC42EP4 is a 311-amino acid protein that contains a CRIB (Cdc42/Rac interactive binding) domain. It localizes to the cytoplasm and plasma membrane, where it interacts with CDC42 to promote actin polymerization and cytoskeletal rearrangements. It plays a role in cell division, motility, and endothelial function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CDC42EP4 Knockout HEK293 Cell Line | EDJ-KQ2132 | Human | 23580 | Details Get a Quote |
| CDC42EP4 Knockout A-549 Cell Line | EDJ-KQ22291 | Human | 23580 | Details Get a Quote |
| CDC42EP4 Knockout HCT 116 Cell Line | EDJ-KQ22292 | Human | 23580 | Details Get a Quote |
| CDC42EP4 Knockout HeLa Cell Line | EDJ-KQ22293 | Human | 23580 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
