CDC42BPB
CDC42 Binding Protein Kinase Beta (DMPK-like)
Gene Information Card
| Symbol | CDC42BPB |
|---|---|
| Full Name | CDC42 binding protein kinase beta |
| Gene Type | protein-coding |
| Chromosomal Location | 14q32.32 |
| NCBI Gene ID | 9578 ncbi.nlm.nih.gov/gene/9578 |
| Ensembl ID | ENSG00000100811 |
| UniProt ID | Q9Y5S2 |
| OMIM ID | 612317 |
| HGNC ID | 1738 |
| Aliases | MRCK beta, MRCKB, CDC42BPB, DMPK-like |
Description
CDC42BPB encodes a serine/threonine protein kinase that belongs to the myotonic dystrophy kinase-related family. The protein acts as a downstream effector of CDC42, regulating actin cytoskeleton organization, cell migration, and cell adhesion. It is involved in the formation of filopodia and lamellipodia through phosphorylation of myosin light chain and other targets.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various) | Overexpression and amplification of CDC42BPB promote cell migration and invasion via actin remodeling | COSMIC, literature |
| Intellectual disability | De novo missense variants in CDC42BPB have been reported in patients with neurodevelopmental disorders | ClinVar, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.3 | Medium |
| Heart | 8.7 | Low |
| Lung | 6.2 | Low |
| Liver | 4.1 | Low |
| Kidney | 9.5 | Low |
| Testis | 15.8 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 18.2 | High expression |
| HeLa | 14.5 | Medium expression |
| A549 | 11.3 | Medium expression |
| MCF7 | 9.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2143G>A (p.Gly715Arg) | Missense | Rare | Likely gain-of-function; associated with neurodevelopmental disorder |
| c.1234C>T (p.Arg412Trp) | Missense | Rare | Unknown functional effect; reported in ClinVar |
| Amplification | Copy number gain | Frequent in cancer | Overexpression; promotes cell migration |
Mutation functional classification
Loss of Function (LOF)
Not well characterized; rare truncating variants may reduce kinase activity.
Gain of Function (GOF)
Missense variants (e.g., p.Gly715Arg) are predicted to increase kinase activity, leading to altered actin dynamics.
Dominant Negative (DN)
No dominant-negative mutations reported to date.
View complete mutation data：
Gene Ontology (GO)
| • protein serine/threonine kinase activity | • ATP binding |
| • actin cytoskeleton organization | • cell migration |
| • signal transduction | • CDC42 binding |
Pathways
• CDC42 signaling
• Actin cytoskeleton regulation
• Myosin light chain phosphorylation
Protein Summary
CDC42BPB (MRCK beta) is a 1,711-amino-acid serine/threonine kinase with a kinase domain, a coiled-coil region, and a pleckstrin homology domain. It is activated by binding to active CDC42 and phosphorylates myosin light chain, regulating actomyosin contractility and cell motility. The protein is widely expressed, with highest levels in brain and testis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CDC42BPB Knockout HEK293 Cell Line | EDJ-KQ5986 | Human | 9578 | Details Get a Quote |
| CDC42BPB Knockout HeLa Cell Line | EDJ-KQ30917 | Human | 9578 | Details Get a Quote |
| CDC42BPB Knockout A-549 Cell Line | EDJ-KQ30914 | Human | 9578 | Details Get a Quote |
| CDC42BPB Knockout HCT 116 Cell Line | EDJ-KQ30916 | Human | 9578 | Details Get a Quote |
| CDC42BPB Knockout HAP1 Cell Line | EDC08386 | Human | 9578 | Details Get a Quote |
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