CDC42EP5
CDC42 Effector Protein 5
Gene Information Card
| Symbol | CDC42EP5 |
|---|---|
| Full Name | CDC42 effector protein 5 |
| Gene Type | protein-coding |
| Chromosomal Location | 19q13.2 |
| NCBI Gene ID | 148170 ncbi.nlm.nih.gov/gene/148170 |
| Ensembl ID | ENSG00000167658 |
| UniProt ID | Q6ZMP0 |
| OMIM ID | 616312 |
| HGNC ID | 23314 |
| Aliases | BORG5, CEP5 |
Description
CDC42EP5 (CDC42 effector protein 5) is a protein-coding gene that encodes a member of the CDC42 effector protein family. The encoded protein interacts with the small GTPase CDC42 and is involved in actin cytoskeleton organization, cell migration, and membrane trafficking. It is also known as BORG5 (binder of Rho GTPases 5).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported | N/A | No evidence in ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Low |
| Lung | 6.1 | Low |
| Heart | 5.3 | Low |
| Liver | 4.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.3 | Moderate expression |
| HeLa | 10.1 | Low expression |
| K562 | 8.4 | Low expression |
| A549 | 7.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No pathogenic mutations reported | N/A | N/A | N/A |
Mutation functional classification
Loss of Function (LOF)
No data available
Gain of Function (GOF)
No data available
Dominant Negative (DN)
No data available
View complete mutation data：
Gene Ontology (GO)
Pathways
• CDC42 signaling pathway
• Actin cytoskeleton regulation
Protein Summary
CDC42EP5 is a 227-amino acid protein that contains a CRIB (Cdc42/Rac interactive binding) domain. It binds specifically to activated CDC42 and localizes to the cytoplasm and cytoskeleton. The protein is thought to regulate actin dynamics and cell morphology. No disease-associated variants have been reported in ClinVar or COSMIC.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CDC42EP5 Knockout HEK293 Cell Line | EDJ-KQ10722 | Human | 148170 | Details Get a Quote |
| CDC42EP5 Knockout HeLa Cell Line | EDJ-KQ58600 | Human | 148170 | Details Get a Quote |
| CDC42EP5 Knockout A-549 Cell Line | EDJ-KQ67084 | Human | 148170 | Details Get a Quote |
| CDC42EP5 Knockout HCT 116 Cell Line | EDJ-KQ75491 | Human | 148170 | Details Get a Quote |
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