CDC42: Cell Division Cycle 42 – Key Regulator of Cell Signaling and Cytoskeleton
Comprehensive gene overview of CDC42, including genomic context, expression, mutations, and clinical relevance.
Gene Information Card
| Symbol | CDC42 |
|---|---|
| Full Name | Cell Division Cycle 42 |
| Gene Type | Protein coding |
| Chromosomal Location | 1p36.12 |
| NCBI Gene ID | 998 ncbi.nlm.nih.gov/gene/998 |
| Ensembl ID | ENSG00000070831 |
| UniProt ID | P60953 |
| OMIM ID | 116952 |
| HGNC ID | 1736 |
| Aliases | CDC42Hs, G25K, TKS |
Description
CDC42 (Cell Division Cycle 42) is a small GTPase of the Rho family that regulates cell polarity, cytoskeletal organization, cell migration, and signal transduction. It cycles between an active GTP-bound and inactive GDP-bound state, acting as a molecular switch. CDC42 is involved in multiple cellular processes including cell cycle progression, vesicle trafficking, and transcriptional regulation. Dysregulation of CDC42 is implicated in various cancers, developmental disorders, and immune deficiencies.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Takenouchi-Kosaki Syndrome | Gain-of-function mutations in CDC42 disrupt cell polarity and actin dynamics, leading to developmental delay, facial dysmorphism, and thrombocytopenia. | PMID: 26246520; ClinVar |
| Nonsyndromic Intellectual Disability | Loss-of-function or dominant-negative variants impair neuronal migration and dendritic spine formation. | PMID: 28965847; ClinVar |
| Various Cancers (e.g., breast, lung, colorectal) | Overexpression or activating mutations promote cell proliferation, invasion, and metastasis via altered cytoskeletal signaling. | COSMIC; PMID: 25691885 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 28.5 | High |
| Lung | 15.2 | Medium |
| Liver | 12.8 | Medium |
| Kidney | 18.1 | Medium |
| Heart | 22.3 | High |
| Spleen | 14.0 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 32.1 | Cervical carcinoma; high expression |
| A549 | 25.4 | Lung carcinoma; moderate-high |
| HEK 293 | 29.7 | Embryonic kidney; high expression |
| MCF7 | 20.3 | Breast carcinoma; moderate |
| K562 | 18.9 | Leukemia; moderate |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.191A>G (p.Tyr64Cys) | Missense | <0.01% | Gain-of-function; associated with Takenouchi-Kosaki syndrome |
| c.556C>T (p.Arg186Trp) | Missense | <0.01% | Dominant-negative; linked to intellectual disability |
| c.70G>A (p.Gly24Ser) | Missense | <0.01% | Loss-of-function; reduced GTP binding |
| c.413G>A (p.Arg138His) | Missense | <0.01% | Gain-of-function; found in melanoma (COSMIC) |
Mutation functional classification
Loss of Function (LOF)
Mutations that impair GTP binding or hydrolysis (e.g., p.Gly24Ser) reduce CDC42 activity, leading to defects in cell polarity and migration.
Gain of Function (GOF)
Mutations that stabilize the GTP-bound active state (e.g., p.Tyr64Cys) enhance downstream signaling, promoting oncogenic transformation and developmental abnormalities.
Dominant Negative (DN)
Mutations that sequester guanine nucleotide exchange factors (GEFs) or prevent effector binding (e.g., p.Arg186Trp) inhibit wild-type CDC42 function, causing dominant-negative effects.
View complete mutation data:
Gene Ontology (GO)
Pathways
• Rho GTPase cycle (Reactome: R-HSA-194840)
• Signaling by Rho family GTPases (Reactome: R-HSA-194315)
• CDC42 signaling events (PID: cdc42pathway)
• Regulation of actin dynamics for phagocytic cup formation (Reactome: R-HSA-2029480)
Protein Summary
CDC42 encodes a 191-amino acid small GTPase (UniProt P60953) that localizes to the plasma membrane and intracellular vesicles. The protein contains a conserved GTP-binding domain and a C-terminal CAAX motif for prenylation. It interacts with numerous effectors including PAK kinases, WASP, and IQGAP to regulate actin polymerization, cell polarity, and vesicle trafficking. Post-translational modifications such as phosphorylation and ubiquitination modulate its activity and stability.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CDC42EP4 Knockout HEK293 Cell Line | EDJ-KQ2132 | Human | 23580 | Details Get a Quote |
| CDC42EP1 Knockout HEK293 Cell Line | EDJ-KQ3070 | Human | 11135 | Details Get a Quote |
| CDC42BPB Knockout HEK293 Cell Line | EDJ-KQ5986 | Human | 9578 | Details Get a Quote |
| CDC42BPA Knockout HEK293 Cell Line | EDJ-KQ6250 | Human | 8476 | Details Get a Quote |
| CDC42EP2 Knockout HEK293 Cell Line | EDJ-KQ7045 | Human | 10435 | Details Get a Quote |
| CDC42EP3 Knockout HEK293 Cell Line | EDJ-KQ7105 | Human | 10602 | Details Get a Quote |
| CCDC42 Knockout HEK293 Cell Line | EDJ-KQ10497 | Human | 146849 | Details Get a Quote |
| CDC42EP5 Knockout HEK293 Cell Line | EDJ-KQ10722 | Human | 148170 | Details Get a Quote |
| CDC42BPG Knockout HEK293 Cell Line | EDJ-KQ12836 | Human | 55561 | Details Get a Quote |
| CDC42 Knockout A-549 Cell Line | EDJ-KQ18123 | Human | 998 | 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 |
| CDC42BPB Knockout HeLa Cell Line | EDJ-KQ30917 | Human | 9578 | Details Get a Quote |
| CDC42EP3 Knockout A-549 Cell Line | EDJ-KQ31960 | Human | 10602 | Details Get a Quote |
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