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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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ELMO3
engulfment and cell motility 3
Chromosome 16 · 16q22.1
NCBI Gene: 79767Ensembl: ENSG00000102890.17HGNC: HGNC:17289UniProt: Q96BJ8
22PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingactin filament organizationguanyl-nucleotide exchange factor activityregulation of vasculogenesisprostate carcinomapoisoningcolorectal carcinomalacrimal apparatus disease
✦AI Summary

ELMO3 (engulfment and cell motility 3) is a critical regulator of cytoskeletal dynamics and cell migration. Functionally, ELMO3 forms a tight complex with DOCK1-5 guanine nucleotide exchange factors to regulate RAC1 spatiotemporal activation and signaling 1. The protein acts as an upstream regulator of RAC GTP-binding during cell migration and is essential for F-actin polymerization 2. ELMO3 expression is transcriptionally regulated by the intestine-specific transcription factors CDX2 and SP1 2. Clinically, ELMO3 has emerged as a significant biomarker in multiple malignancies. Elevated ELMO3 expression is associated with poor prognosis in non-small cell lung cancer (AUC=0.917, 92.8% sensitivity) 3, gastric cancer 4, colorectal cancer 5, head and neck squamous cell carcinoma 6, and laryngeal cancer 7. ELMO3 knockdown inhibits cancer cell proliferation, invasion, migration, and metastasis across multiple tumor types, suggesting its role in tumor progression 45. In neurodevelopmental disorders, biallelic ELMO3 mutations impair RAC1-GTP loading and cause autism spectrum disorder with developmental delay 1. ELMO3 thus represents both a diagnostic/prognostic cancer biomarker and a neurodevelopmental disease gene.

Sources cited
1
ELMO3 is an essential upstream regulator of RAC during cell migration; CDX2 and SP1 transcription factors regulate ELMO3 promoter activity
PMID: 20127720
2
ELMO3 forms complex with DOCK1 to regulate RAC1; biallelic ELMO3 mutations cause autism spectrum disorder and developmental delay by impairing RAC1-GTP loading
PMID: 33660564
3
ELMO3 overexpression in gastric cancer; ELMO3 knockdown inhibits cell proliferation, invasion, metastasis, and F-actin polymerization
PMID: 30345300
4
ELMO3 upregulation in non-small cell lung cancer with diagnostic AUC=0.917 (92.8% sensitivity, 84.3% specificity); independent prognostic marker for poor survival
PMID: 26191257
5
ELMO3 overexpression in colorectal cancer associated with tumor size, differentiation, invasion depth, lymph node metastasis, and TNM stage; knockdown inhibits proliferation and invasion
PMID: 27999268
6
ELMO3 expression in head and neck squamous cell carcinoma serves as independent marker for decreased overall and disease-free survival
PMID: 28039609
7
ELMO3 expression predicts poor disease-specific and disease-free survival in early laryngeal cancer
PMID: 28166396
8
ELMO3 identified as efferocytosis-related biomarker highly expressed in colorectal cancer with diagnostic utility
PMID: 39107816
Disease Associationsⓘ20
prostate carcinomaOpen Targets
0.14Weak
poisoningOpen Targets
0.09Suggestive
colorectal carcinomaOpen Targets
0.08Suggestive
lacrimal apparatus diseaseOpen Targets
0.08Suggestive
gastric cancerOpen Targets
0.08Suggestive
response to xenobiotic stimulusOpen Targets
0.07Suggestive
Fuchs endothelial corneal dystrophyOpen Targets
0.07Suggestive
non-small cell lung carcinomaOpen Targets
0.07Suggestive
X-linked endothelial corneal dystrophyOpen Targets
0.07Suggestive
Familial ocular anterior segment mesenchymal dysgenesisOpen Targets
0.06Suggestive
X-linked corneal dermoidOpen Targets
0.06Suggestive
Corneal dystrophy - perceptive deafnessOpen Targets
0.06Suggestive
corneal dystrophy-perceptive deafness syndromeOpen Targets
0.06Suggestive
congenital hereditary endothelial dystrophy of corneaOpen Targets
0.06Suggestive
granular corneal dystrophy type IOpen Targets
0.06Suggestive
posterior polymorphous corneal dystrophyOpen Targets
0.06Suggestive
Peters anomalyOpen Targets
0.05Suggestive
deafnessOpen Targets
0.05Suggestive
Cataract-microcornea syndromeOpen Targets
0.05Suggestive
Central cloudy dystrophy of FrancoisOpen Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
DOCK1Protein interaction98%GULP1Protein interaction98%IFT122Protein interaction98%WDR35Protein interaction98%DOCK4Protein interaction97%RHOGProtein interaction91%
Tissue Expression6 tissues
Bone Marrow
100%
Liver
84%
Lung
76%
Ovary
20%
Brain
15%
Heart
12%
Gene Interaction Network
Click a node to explore
ELMO3DOCK1GULP1IFT122WDR35DOCK4RHOG
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q96BJ8
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.09LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.91 [0.76–1.09]
RankingsWhere ELMO3 stands among ~20K protein-coding genes
  • #13,653of 20,598
    Most Researched22
  • #11,147of 17,882
    Most Constrained (LOEUF)1.09
Genes detectedELMO3
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Control of intestinal promoter activity of the cellular migratory regulator gene ELMO3 by CDX2 and SP1.
PMID: 20127720
J Cell Biochem · 2010
1.00
2
Biallelic
PMID: 33660564
Small GTPases · 2022
0.90
3
Silencing ELMO3 Inhibits the Growth, Invasion, and Metastasis of Gastric Cancer.
PMID: 30345300
Biomed Res Int · 2018
0.80
4
ELMO3 is a novel biomarker for diagnosis and prognosis of non-small cell lung cancer.
PMID: 26191257
Int J Clin Exp Pathol · 2015
0.70
5
ELMO3 expression indicates a poor prognosis in head and neck squamous cell carcinoma - a short report.
PMID: 28039609
Cell Oncol (Dordr) · 2017
0.60