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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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CDC42EP2
CDC42 effector protein 2
Chromosome 11 · 11q13.1
NCBI Gene: 10435Ensembl: ENSG00000149798.6HGNC: HGNC:16263UniProt: O14613
30PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
GTPase activator activitymembraneprotein bindingsmall GTPase bindinghyperuricemiacancerneoplasmprostate cancer
✦AI Summary

CDC42EP2 (CDC42 effector protein 2) is a Cdc42 effector protein that functions in actin cytoskeleton organization and cell morphology regulation. Primary mechanistic studies indicate CDC42EP2 acts downstream of the small GTPase CDC42 to promote actin filament polymerization and pseudopodia formation, particularly in fibroblasts 1. The protein plays a key role in cytoskeletal remodelling and mediates cell shape changes in response to mechanical stimuli 2. CDC42EP2 expression is mechanically responsive, being upregulated during early stages of cyclic tensile stress in periodontal ligament cells and downregulated under prolonged stretch conditions 32. Beyond structural roles, CDC42EP2 emerges as a disease-relevant biomarker across multiple pathologies. It is identified as a core hub gene shared between rheumatoid arthritis and myasthenia gravis, correlating with immune cell infiltration patterns 4. CDC42EP2 participates in inflammation-hypoxia-related pathogenic mechanisms in idiopathic pulmonary fibrosis and functions in oxidative stress pathways associated with benzene-induced hematotoxicity and bone marrow failure 56. Additionally, CDC42EP2 appears in recurrent gene fusion events in gastrointestinal stromal tumors and is implicated in various rare connective tissue and neurological disorders through SOD3-correlated networks 78. These findings position CDC42EP2 as both a structural regulator of cytoskeletal dynamics and a multidisease biomarker with potential diagnostic and therapeutic significance.

Sources cited
1
CDC42EP2 is a Cdc42 effector protein involved in cytoskeletal remodelling and cell shape regulation
PMID: 27913681
2
CDC42EP2 expression is downregulated during cyclic stretch in periodontal ligament cells and involved in cytoskeletal rearrangement
PMID: 28681629
3
CDC42EP2 is upregulated in response to cyclic tensile stress in periodontal ligament cells
PMID: 20934684
4
CDC42EP2 is identified as a core hub gene shared between rheumatoid arthritis and myasthenia gravis with diagnostic value
PMID: 40681713
5
CDC42EP2 is part of an inflammation-hypoxia-related gene signature for predicting prognosis in idiopathic pulmonary fibrosis
PMID: 35309336
6
CDC42EP2 expression is decreased in benzene-induced bone marrow failure and associated with MAPK oxidative stress pathways
PMID: 39170214
7
CDC42EP2 is involved in a recurrent read-through fusion transcript (POLA2-CDC42EP2) in gastrointestinal stromal tumors
PMID: 25987131
8
CDC42EP2 is identified as a novel gene associated with multiple rare diseases through SOD3-correlated gene networks
PMID: 39480826
Disease Associationsⓘ20
hyperuricemiaOpen Targets
0.06Suggestive
cancerOpen Targets
0.02Suggestive
neoplasmOpen Targets
0.02Suggestive
prostate cancerOpen Targets
0.02Suggestive
acute myeloid leukemiaOpen Targets
0.01Suggestive
bladder transitional cell carcinomaOpen Targets
0.01Suggestive
Colon Sessile Serrated Adenoma/PolypOpen Targets
0.01Suggestive
Ehlers-Danlos syndromeOpen Targets
0.01Suggestive
hepatocellular carcinomaOpen Targets
0.01Suggestive
large cell lung carcinomaOpen Targets
0.01Suggestive
lymph node metastatic carcinomaOpen Targets
0.01Suggestive
Neoplasm of the lungOpen Targets
0.01Suggestive
small cell lung carcinomaOpen Targets
0.01Suggestive
lung adenocarcinomaOpen Targets
0.01Suggestive
MegacystisOpen Targets
0.01Suggestive
obesityOpen Targets
0.01Suggestive
X-linked hyper-IgM syndromeOpen Targets
0.01Suggestive
squamous cell lung carcinomaOpen Targets
0.00Suggestive
Mungan syndromeOpen Targets
0.00Suggestive
endocervical adenocarcinomaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
RHOQProtein interaction97%CDC42Protein interaction76%ARHGAP26Protein interaction73%SEPTIN7Protein interaction72%CDC42EP5Protein interaction65%C15orf62Shared pathway57%
Tissue Expression6 tissues
Lung
100%
Ovary
44%
Brain
29%
Liver
15%
Bone Marrow
0%
Heart
0%
Gene Interaction Network
Click a node to explore
CDC42EP2RHOQCDC42ARHGAP26SEPTIN7CDC42EP5C15orf62
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt O14613
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.36LoF Tolerant
pLIⓘ
0.04Tolerant
Observed/Expected LoF0.65 [0.34–1.36]
RankingsWhere CDC42EP2 stands among ~20K protein-coding genes
  • #11,872of 20,598
    Most Researched30
  • #14,239of 17,882
    Most Constrained (LOEUF)1.36
Genes detectedCDC42EP2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Early proliferation alteration and differential gene expression in human periodontal ligament cells subjected to cyclic tensile stress.
PMID: 20934684
Arch Oral Biol · 2011
1.00
2
Genetic and molecular underpinnings of the link between rheumatoid arthritis and myasthenia gravis: Insights from GWAS and transcriptomic analyses.
PMID: 40681713
Clin Rheumatol · 2025
0.90
3
Cyclic stretch-induced the cytoskeleton rearrangement and gene expression of cytoskeletal regulators in human periodontal ligament cells.
PMID: 28681629
Acta Odontol Scand · 2017
0.80
4
Identification of critical genes associated with oxidative stress pathways in benzene-induced hematotoxicity.
PMID: 39170214
Heliyon · 2024
0.70
5
The Prognostic Value of Integrated Analysis of Inflammation and Hypoxia-Related Genes in Idiopathic Pulmonary Fibrosis.
PMID: 35309336
Front Immunol · 2022
0.60