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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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CDC42EP4
CDC42 effector protein 4
Chromosome 17 · 17q25.1
NCBI Gene: 23580Ensembl: ENSG00000179604.11HGNC: HGNC:17147UniProt: B2R6D8
53PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
regulation of cell shapeRNA bindingprotein bindingmicrotubule cytoskeletonneuroendocrine neoplasmbalanoposthitislens diseaseGenu valgum
✦AI Summary

CDC42EP4 (CDC42 effector protein 4) is a cytoskeletal regulatory protein that functions downstream of the small GTPase CDC42 to organize the actin cytoskeleton and regulate cell morphology 1. The protein plays important roles in actin filament assembly and pseudopodia formation, contributing to cell shape changes and cytoskeletal dynamics 2. CDC42EP4 interacts with septins and influences cytoskeletal organization, affecting cellular processes including dendritic spine formation in neurons 3. In disease contexts, CDC42EP4 expression is dysregulated across multiple conditions. In schizophrenia, CDC42EP4 mRNA levels are significantly upregulated in cortical layer 3 pyramidal cells, potentially contributing to dendritic spine deficits and synaptic dysfunction 13. Conversely, CDC42EP4 acts as a tumor suppressor in prostate cancer, where its expression is reduced and overexpression inhibits cell proliferation, migration, and invasion through suppression of the ERK signaling pathway 4. The protein has also been identified as a potential diagnostic biomarker for hypertrophic cardiomyopathy 5 and shows upregulation in helper T cells from obese asthmatic children, suggesting involvement in TH1-polarized inflammation 6. These findings highlight CDC42EP4's diverse roles in cytoskeletal regulation, neuronal function, and disease pathogenesis.

Sources cited
1
CDC42EP4 functions downstream of CDC42 and is upregulated in cortical layer 3 pyramidal cells in schizophrenia
PMID: 25981171
2
CDC42EP4 interacts with septins and influences cytoskeletal organization
PMID: 30394597
3
CDC42EP4 contributes to dendritic spine formation and is altered in schizophrenia
PMID: 20385374
4
CDC42EP4 acts as tumor suppressor in prostate cancer by inhibiting ERK pathway
PMID: 38153517
5
CDC42EP4 identified as potential diagnostic biomarker for hypertrophic cardiomyopathy
PMID: 38006610
6
CDC42EP4 upregulated in helper T cells from obese asthmatic children
PMID: 28479334
Disease Associationsⓘ20
neuroendocrine neoplasmOpen Targets
0.14Weak
balanoposthitisOpen Targets
0.13Weak
lens diseaseOpen Targets
0.11Weak
Genu valgumOpen Targets
0.09Suggestive
Genu varumOpen Targets
0.09Suggestive
rheumatic diseaseOpen Targets
0.09Suggestive
gastrointestinal diseaseOpen Targets
0.08Suggestive
posterior cortical atrophyOpen Targets
0.06Suggestive
post term pregnancyOpen Targets
0.03Suggestive
hypertrophic cardiomyopathyOpen Targets
0.02Suggestive
juvenile idiopathic arthritisOpen Targets
0.02Suggestive
myositisOpen Targets
0.02Suggestive
oral mucosa leukoplakiaOpen Targets
0.02Suggestive
hypotensionOpen Targets
0.02Suggestive
infectionOpen Targets
0.01Suggestive
Bartsocas-Papas syndrome 1Open Targets
0.01Suggestive
polycystic ovary syndromeOpen Targets
0.01Suggestive
strokeOpen Targets
0.01Suggestive
Alzheimer diseaseOpen Targets
0.01Suggestive
psoriasisOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CDC42EP3Shared pathway100%C15orf62Shared pathway100%RHOQProtein interaction98%CDC42Protein interaction94%SEPTIN7Protein interaction90%SEPTIN6Protein interaction90%
Tissue Expression6 tissues
Ovary
100%
Brain
85%
Liver
50%
Lung
48%
Heart
45%
Bone Marrow
43%
Gene Interaction Network
Click a node to explore
CDC42EP4CDC42EP3C15orf62RHOQCDC42SEPTIN7SEPTIN6
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9H3Q1
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.58LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.86 [0.49–1.58]
RankingsWhere CDC42EP4 stands among ~20K protein-coding genes
  • #8,403of 20,598
    Most Researched53
  • #15,566of 17,882
    Most Constrained (LOEUF)1.58
Genes detectedCDC42EP4
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Prediction of diagnostic gene biomarkers for hypertrophic cardiomyopathy by integrated machine learning.
PMID: 38006610
J Int Med Res · 2023
1.00
2
CDC42-related genes are upregulated in helper T cells from obese asthmatic children.
PMID: 28479334
J Allergy Clin Immunol · 2018
0.90
3
Cell division cycle 42 effector protein 4 inhibits prostate cancer progression by suppressing ERK signaling pathway.
PMID: 38153517
Biomol Biomed · 2023
0.80
4
Identification of novel regulatory partners of the glutamate transporter GLT-1.
PMID: 30394597
Glia · 2018
0.70
5
Altered cortical CDC42 signaling pathways in schizophrenia: implications for dendritic spine deficits.
PMID: 20385374
Biol Psychiatry · 2010
0.60