CDC42BPG
CDC42 Binding Protein Kinase Gamma (DMPK-Like)
Gene Information Card
| Symbol | CDC42BPG |
|---|---|
| Full Name | CDC42 binding protein kinase gamma (DMPK-like) |
| Gene Type | protein-coding |
| Chromosomal Location | 11q13.1 |
| NCBI Gene ID | 55561 ncbi.nlm.nih.gov/gene/55561 |
| Ensembl ID | ENSG00000198752 |
| UniProt ID | Q6DT37 |
| OMIM ID | 614642 |
| HGNC ID | 29854 |
| Aliases | DMPK2, MRCKG, MRCKgamma |
Description
CDC42BPG encodes a serine/threonine-protein kinase that belongs to the myotonic dystrophy protein kinase (DMPK) family. The protein is activated by binding to the small GTPase CDC42 and plays a role in actin cytoskeleton reorganization, cell migration, and cell adhesion. It is involved in the regulation of myosin light chain phosphorylation and actomyosin contractility.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (general) | Altered expression may affect cell migration and invasion via cytoskeletal remodeling | COSMIC; literature |
| Neurodevelopmental disorders | Potential role in neuronal migration and dendritic spine morphology | OMIM; limited evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 5.2 | Medium |
| Heart | 3.8 | Low |
| Skeletal Muscle | 4.1 | Low |
| Lung | 2.5 | Low |
| Kidney | 3.0 | Low |
| Testis | 6.7 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 4.5 | Moderate expression |
| HeLa | 3.2 | Low expression |
| SH-SY5Y | 6.1 | Medium expression |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Cys) | Missense | <0.01% | Unknown functional impact |
| c.567_569del (p.Lys189del) | In-frame deletion | <0.01% | Potential loss of kinase activity |
Mutation functional classification
Loss of Function (LOF)
In-frame deletions in the kinase domain may reduce catalytic activity.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
Not established.
View complete mutation data:
Gene Ontology (GO)
Pathways
• CDC42 signaling
• Actin cytoskeleton regulation
• Myosin light chain phosphorylation
Protein Summary
CDC42BPG is a 1,531-amino acid serine/threonine kinase with a conserved kinase domain, a coiled-coil region, and a pleckstrin homology (PH) domain. It is activated by CDC42 binding and phosphorylates myosin light chain to regulate actomyosin contractility. The protein is predominantly cytoplasmic and is expressed in brain, testis, and heart.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CDC42BPG Knockout HEK293 Cell Line | EDJ-KQ12836 | Human | 55561 | Details Get a Quote |
| CDC42BPG Knockout HCT 116 Cell Line | EDJ-KQ41979 | Human | 55561 | Details Get a Quote |
| CDC42BPG Knockout HeLa Cell Line | EDJ-KQ41980 | Human | 55561 | Details Get a Quote |
| CDC42BPG Knockout A-549 Cell Line | EDJ-KQ65101 | Human | 55561 | Details Get a Quote |