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.

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 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
Displaying Records 1 To 15 Of 49 Records
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