CDC42BPA
CDC42 Binding Protein Kinase Alpha (MRCKA)
Gene Information Card
| Symbol | CDC42BPA |
|---|---|
| Full Name | CDC42 binding protein kinase alpha |
| Gene Type | protein-coding |
| Chromosomal Location | 1q42.13 |
| NCBI Gene ID | 8476 ncbi.nlm.nih.gov/gene/8476 |
| Ensembl ID | ENSG00000143776 |
| UniProt ID | Q5VT25 |
| OMIM ID | 603412 |
| HGNC ID | 1737 |
| Aliases | MRCKA, MRCK alpha, CDC42BP-alpha, KIAA0451 |
Description
CDC42BPA encodes a serine/threonine kinase that binds to and is activated by CDC42. The protein, known as MRCK alpha, regulates actin cytoskeleton organization, cell migration, and myosin light chain phosphorylation. It is involved in myotonic dystrophy and cancer cell invasion.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Myotonic dystrophy | Altered splicing of CDC42BPA mRNA due to DMPK repeat expansions | PMID: 20301325 |
| Cancer (various) | Overexpression promotes cell migration and invasion via MLC2 phosphorylation | PMID: 25605248 |
| Intellectual disability | De novo missense variants in CDC42BPA | PMID: 31036916 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.3 | Medium |
| Heart | 8.7 | Medium |
| Lung | 6.2 | Low |
| Liver | 4.1 | Low |
| Kidney | 9.5 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.2 | High expression |
| HEK293 | 11.8 | Medium expression |
| A549 | 9.3 | Medium expression |
| K562 | 5.6 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.361C>T (p.Arg121Trp) | Missense | <0.01% | Likely loss of function; associated with intellectual disability |
| c.2144A>G (p.Asn715Ser) | Missense | <0.01% | Unknown significance |
| c.1234_1236del (p.Lys412del) | In-frame deletion | <0.01% | Unknown significance |
Mutation functional classification
Loss of Function (LOF)
Rare missense variants (e.g., p.Arg121Trp) reduce kinase activity and disrupt CDC42 binding.
Gain of Function (GOF)
Not well characterized; overexpression in cancer may act as a gain-of-function.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • protein serine/threonine kinase activity | • ATP binding |
| • CDC42 binding | • actin cytoskeleton organization |
| • cell migration | • myosin light chain phosphorylation |
Pathways
• CDC42 signaling
• Actin cytoskeleton regulation
• Myosin light chain phosphorylation
Protein Summary
CDC42BPA encodes MRCK alpha, a 1730-amino-acid serine/threonine kinase with a CDC42-binding domain, a kinase domain, and a coiled-coil region. It phosphorylates myosin light chain 2 (MLC2) to regulate actomyosin contractility and cell motility.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CDC42BPA Knockout HEK293 Cell Line | EDJ-KQ6250 | Human | 8476 | Details Get a Quote |
| CDC42BPA Knockout A-549 Cell Line | EDJ-KQ30113 | Human | 8476 | Details Get a Quote |
| CDC42BPA Knockout HCT 116 Cell Line | EDJ-KQ30114 | Human | 8476 | Details Get a Quote |
| CDC42BPA Knockout HeLa Cell Line | EDJ-KQ30115 | Human | 8476 | Details Get a Quote |
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