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GeneE
50 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
CDC42
cell division cycle 42
Chromosome 1 Β· 1p36.12
NCBI Gene: 998Ensembl: ENSG00000070831.19HGNC: HGNC:1736UniProt: P60953
820PubMed Papers
21Diseases
0Drugs
22Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
RESEARCH IMPACT
Highly StudiedTrending
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
integrin-mediated signaling pathwayGTPase activityactin filament organizationcentrosomemacrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndromegenetic disorderhemophagocytic syndromeSkin rash
✦AI Summary

CDC42 is a plasma membrane-associated small GTPase that cycles between active GTP-bound and inactive GDP-bound states to regulate diverse cellular processes 1. It functions as a central regulator of actin cytoskeleton dynamics, controlling cell migration, epithelial cell polarization, and filopodia formation in neurons and podocytes 2. CDC42 also regulates spindle microtubule attachment during mitosis and participates in phagocytosis through F-actin organization. In the nervous system, CDC42 mediates dendritic spine structural plasticity and is required for DOCK10/DOCK11-dependent spine formation 2. Clinically, CDC42 dysfunction contributes to multiple pathologies. Loss-of-function DOCK11 mutations impairing CDC42 activation cause severe immune dysregulation, systemic inflammation, and anemia 2. CDC42 deficiency in endometrial stromal cells induces senescence via Wnt pathway activation, impairing uterine receptivity in recurrent implantation failure 3. Conversely, CDC42 overexpression drives malignancy: elevated CDC42 promotes glioma progression through PI3K-AKT pathway activation 4, and CDC42 upregulation in gastric cancer enhances chemotherapy resistance 5. Additionally, CDC42 missense mutations cause autoinflammatory diseases, revealing novel roles in innate immunity 6. CDC42 also regulates vascular leakage through antagonistic interactions with RhoA 7, highlighting its broader inflammatory roles.

Sources cited
1
CDC42 is regulated by GDIs, GEFs, and GAPs, and interacts with >70 downstream effectors
PMID: 34359999
2
DOCK11 activates CDC42; loss of DOCK11 function causes immune dysregulation, systemic inflammation, and anemia; CDC42 is central to actin cytoskeleton dynamics and filopodia formation
PMID: 37342957
3
CDC42 deficiency causes endometrial stromal cell senescence via Wnt signaling pathway activation, impairing decidualization and uterine receptivity in recurrent implantation failure
PMID: 39487595
4
CDC42 promotes glioma proliferation, migration, and invasion by activating the PI3K-AKT pathway
PMID: 38876383
5
CDC42 missense variants cause severe autoinflammation and neurodevelopmental disorders, revealing involvement in innate immunity
PMID: 40296562
6
CDC42 activation via ASAP1-IQGAP1 pathway promotes gastric cancer progression and chemotherapy resistance through EGFR-MAPK pathway upregulation
PMID: 36792578
7
CDC42 regulates vascular leakage through antagonistic interactions with RhoA and is regulated by tetraspanin-mediated cholesterol accessibility
PMID: 40731107
Disease Associationsβ“˜21
macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndromeOpen Targets
0.77Strong
genetic disorderOpen Targets
0.48Moderate
hemophagocytic syndromeOpen Targets
0.46Moderate
exanthemOpen Targets
0.46Moderate
hypoplastic left heart syndromeOpen Targets
0.46Moderate
Skin rashOpen Targets
0.46Moderate
Neurodevelopmental disorderOpen Targets
0.46Moderate
diverticular diseaseOpen Targets
0.43Moderate
Abnormal facial shapeOpen Targets
0.40Weak
Abnormality of blood and blood-forming tissuesOpen Targets
0.40Weak
Abnormality of the immune systemOpen Targets
0.40Weak
Neurodevelopmental abnormalityOpen Targets
0.40Weak
Postnatal growth retardationOpen Targets
0.40Weak
endometriosisOpen Targets
0.39Weak
Intellectual disabilityOpen Targets
0.37Weak
blood platelet diseaseOpen Targets
0.37Weak
neurodegenerative diseaseOpen Targets
0.37Weak
Familial hemophagocytic lymphohistiocytosisOpen Targets
0.35Weak
Noonan syndromeOpen Targets
0.34Weak
multinodular goiterOpen Targets
0.29Weak
Takenouchi-Kosaki syndromeUniProt
Pathogenic Variants22
NM_001791.4(CDC42):c.556C>T (p.Arg186Cys)Pathogenic
not provided|CDC42-associated inflammatory disease|Familial hemophagocytic lymphohistiocytosis
β˜…β˜…β˜†β˜†2025β†’ Residue 186
NM_001791.4(CDC42):c.191A>G (p.Tyr64Cys)Pathogenic
Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome|not provided|Inborn genetic diseases|Abnormal facial shape;Neurodevelopmental abnormality;Postnatal growth retardation;Abnormality of the immune system;Abnormality of blood and blood-forming tissues
β˜…β˜…β˜†β˜†2025β†’ Residue 64
NM_001791.4(CDC42):c.203G>A (p.Arg68Gln)Pathogenic
not provided|Postnatal growth retardation;Neurodevelopmental abnormality;Abnormality of the immune system;Abnormality of blood and blood-forming tissues;Abnormal facial shape|Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome
β˜…β˜…β˜†β˜†2024β†’ Residue 68
NM_001791.4(CDC42):c.68A>G (p.Tyr23Cys)Pathogenic
Inborn genetic diseases|not provided|Neurodevelopmental disorder|Postnatal growth retardation;Abnormality of blood and blood-forming tissues;Neurodevelopmental abnormality;Abnormal facial shape;Abnormality of the immune system|Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome|CDC42-related disorder
β˜…β˜…β˜†β˜†2024β†’ Residue 23
NM_001791.4(CDC42):c.511G>A (p.Glu171Lys)Pathogenic
Noonan-like syndrome|Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome|Neurodevelopmental abnormality;Abnormal facial shape;Abnormality of blood and blood-forming tissues;Abnormality of the immune system;Postnatal growth retardation|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 171
NM_001791.4(CDC42):c.196A>G (p.Arg66Gly)Pathogenic
Inborn genetic diseases|Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome|Abnormality of the immune system;Abnormality of blood and blood-forming tissues;Neurodevelopmental abnormality;Postnatal growth retardation;Abnormal facial shape|not provided
β˜…β˜…β˜†β˜†2023β†’ Residue 66
NM_001791.4(CDC42):c.476C>T (p.Ala159Val)Pathogenic
not provided|Neurodevelopmental abnormality;Postnatal growth retardation;Abnormal facial shape;Abnormality of blood and blood-forming tissues;Abnormality of the immune system
β˜…β˜…β˜†β˜†2022β†’ Residue 159
NM_001791.4(CDC42):c.247T>C (p.Ser83Pro)Pathogenic
not provided|Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome|Neurodevelopmental abnormality;Postnatal growth retardation;Abnormal facial shape;Abnormality of blood and blood-forming tissues;Abnormality of the immune system
β˜…β˜…β˜†β˜†2022β†’ Residue 83
NM_001791.4(CDC42):c.124G>A (p.Val42Ile)Likely pathogenic
not provided
β˜…β˜…β˜†β˜†2020β†’ Residue 42
NM_001791.4(CDC42):c.242G>T (p.Cys81Phe)Likely pathogenic
not provided|Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome|Abnormality of the immune system;Postnatal growth retardation;Neurodevelopmental abnormality;Abnormal facial shape;Abnormality of blood and blood-forming tissues
β˜…β˜…β˜†β˜†2016β†’ Residue 81
NM_001791.4(CDC42):c.346C>G (p.Gln116Glu)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 116
NM_001791.4(CDC42):c.291G>T (p.Trp97Cys)Likely pathogenic
Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome
β˜…β˜†β˜†β˜†2024β†’ Residue 97
NM_001791.4(CDC42):c.227A>T (p.Asp76Val)Likely pathogenic
Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome
β˜…β˜†β˜†β˜†2023β†’ Residue 76
NM_001791.4(CDC42):c.70A>C (p.Thr24Pro)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 24
NM_001791.4(CDC42):c.563G>A (p.Cys188Tyr)Pathogenic
not provided
β˜…β˜†β˜†β˜†2021β†’ Residue 188
NM_001791.4(CDC42):c.509A>G (p.Asp170Gly)Likely pathogenic
See cases
β˜…β˜†β˜†β˜†2021β†’ Residue 170
NM_001791.4(CDC42):c.67T>A (p.Tyr23Asn)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2020β†’ Residue 23
NM_001791.4(CDC42):c.67T>C (p.Tyr23His)Likely pathogenic
Congenital heart disease
β˜…β˜†β˜†β˜†2020β†’ Residue 23
NM_001791.4(CDC42):c.137T>C (p.Ile46Thr)Likely pathogenic
Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome
β˜…β˜†β˜†β˜†2018β†’ Residue 46
NM_001791.4(CDC42):c.62T>C (p.Ile21Thr)Likely pathogenic
not provided|Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome|Neurodevelopmental abnormality;Postnatal growth retardation;Abnormality of blood and blood-forming tissues;Abnormality of the immune system;Abnormal facial shape
β˜…β˜†β˜†β˜†2016β†’ Residue 21
View on ClinVar β†—
Related Genes
CD44Protein interaction100%PARD3Protein interaction100%PRKCZProtein interaction100%ITSN1Protein interaction100%WIPF1Protein interaction100%PIK3R1Protein interaction100%
Tissue Expression6 tissues
Brain
100%
Lung
60%
Ovary
36%
Liver
36%
Bone Marrow
13%
Heart
1%
Gene Interaction Network
Click a node to explore
CDC42CD44PARD3PRKCZITSN1WIPF1PIK3R1
PROTEIN STRUCTURE
Preparing viewer…
PDB2NGR Β· 1.90 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.61LoF Tolerant
pLIβ“˜
0.87Intermediate
Observed/Expected LoF0.13 [0.04–0.61]
RankingsWhere CDC42 stands among ~20K protein-coding genes
  • #234of 20,598
    Most Researched820 Β· top 5%
  • #2,082of 5,498
    Most Pathogenic Variants22
  • #4,243of 17,882
    Most Constrained (LOEUF)0.61 Β· top quartile
Genes detectedCDC42
Sources retrieved50 papers
Response timeβ€”
πŸ“„ Sources
50β–Ό
1
The RHO Family GTPases: Mechanisms of Regulation and Signaling.
PMID: 34359999
Cells Β· 2021
1.00
2
Systemic Inflammation and Normocytic Anemia in DOCK11 Deficiency.
PMID: 37342957
N Engl J Med Β· 2023
0.90
3
The ubiquitin ligase Nedd4-2 promotes localization of DNMBP/Tuba to P-bodies under hyperosmotic stress.
PMID: 40975170
J Biol Chem Β· 2025
0.88
4
Quantitative determination of the spatial distribution of components in single cells with CellDetail.
PMID: 39592623
Nat Commun Β· 2024
0.86
5
CDC42 deficiency leads to endometrial stromal cell senescence in recurrent implantation failure.
PMID: 39487595
Hum Reprod Β· 2024
0.80