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10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
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ELMO2
engulfment and cell motility 2
Chromosome 20 Β· 20q13.12
NCBI Gene: 63916Ensembl: ENSG00000062598.19HGNC: HGNC:17233UniProt: Q96JJ3
72PubMed Papers
21Diseases
0Drugs
7Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
cell chemotaxisprotein bindingmembranecytosolPrimary intraosseous vascular malformationprimary intraosseous venous malformationneurodegenerative diseasecutaneous Leishmaniasis
✦AI Summary

ELMO2 is a cytoskeletal adaptor protein essential for cell migration and apoptotic cell engulfment. Functionally, ELMO2 acts as a scaffolding component that associates with DOCK1, ILK, and RhoG to regulate Rac1 activation 1, a small GTPase critical for cytoskeletal rearrangement and lamellipodia formation 2. In phagocytosis, ELMO2 participates in a novel ILK/RhoG/ELMO2 pathway that mediates Rac1-dependent uptake of apoptotic cells; knockdown of ELMO2 reduces phagocytosis by approximately 51% 3. ELMO2 also integrates receptor tyrosine kinase signaling: Axl phosphorylates ELMO2 on Tyr-713 to promote Rac1 activation and cancer cell invasion 4, while HGF-induced MET-AXL complex formation recruits ELMO2-DOCK180 to enhance migration 5. Mechanistically, ELMO2 regulates vascular smooth muscle cell adhesion and contractility through Rac1-dependent actin dynamics 6. Disease-wise, loss-of-function ELMO2 mutations cause primary intraosseous vascular malformation (VMOS) with craniofacial bone expansion and vascular anomalies, including aneurysms in the carotid artery 6, overlapping with Ramon syndrome characterized by cherubism and gingival hypertrophy 7. These findings establish ELMO2 as a central coordinator of cell migration, cytoskeletal dynamics, and vascular development.

Sources cited
1
ELMO2 forms complexes with ILK and RhoG to induce Rac1 activation and lamellipodia formation during cell migration
PMID: 22568984
2
ILK-ELMO2-RhoG complexes are essential for cell polarity and directional migration via Rac1 activation
PMID: 19439446
3
ELMO2 is part of a novel ILK/RhoG/ELMO2 pathway that mediates Rac1-dependent phagocytosis; ELMO2 knockdown reduces phagocytosis by 51%
PMID: 27539661
4
Axl phosphorylates ELMO2 on Tyr-713 to promote Rac1 activation and cancer cell invasion
PMID: 25332238
5
HGF-induced MET-AXL complex recruits ELMO2 and DOCK180 to activate RAC1 and promote cell migration and invasion
PMID: 30108175
6
ELMO2 is essential for carotid artery development; loss-of-function causes vascular malformations and aneurysms through defective vascular smooth muscle cell organization and Rac1 signaling
PMID: 40456777
7
Biallelic loss-of-function ELMO2 variants cause primary intraosseous vascular malformation and Ramon syndrome characterized by cherubism and gingival hypertrophy
PMID: 38517102
Disease Associationsβ“˜21
Primary intraosseous vascular malformationOpen Targets
0.64Moderate
primary intraosseous venous malformationOpen Targets
0.60Moderate
neurodegenerative diseaseOpen Targets
0.50Moderate
cutaneous LeishmaniasisOpen Targets
0.46Moderate
Alzheimer diseaseOpen Targets
0.46Moderate
lysosomal storage diseaseOpen Targets
0.46Moderate
multiple sclerosisOpen Targets
0.46Moderate
Parkinson diseaseOpen Targets
0.46Moderate
Ramon syndromeOpen Targets
0.37Weak
circadian rhythm sleep disorderOpen Targets
0.28Weak
genetic disorderOpen Targets
0.19Weak
carcinoma of gallbladder and extrahepatic biliary tractOpen Targets
0.16Weak
Distal myopathy, Nonaka typeOpen Targets
0.05Suggestive
exercise intolerance, riboflavin-responsiveOpen Targets
0.05Suggestive
GNE myopathyOpen Targets
0.04Suggestive
myopathy, distal, 6, adult-onset, autosomal dominantOpen Targets
0.04Suggestive
tibial muscular dystrophyOpen Targets
0.04Suggestive
breast cancerOpen Targets
0.04Suggestive
tubular aggregate myopathyOpen Targets
0.04Suggestive
myopathy, sarcoplasmic bodyOpen Targets
0.04Suggestive
Vascular malformation, primary intraosseousUniProt
Pathogenic Variants7
NM_133171.5(ELMO2):c.1525C>T (p.Arg509Ter)Likely pathogenic
Primary intraosseous venous malformation
β˜…β˜†β˜†β˜†2024β†’ Residue 509
NM_133171.5(ELMO2):c.1065+1G>TPathogenic
Primary intraosseous venous malformation
β˜…β˜†β˜†β˜†2022
NM_133171.5(ELMO2):c.311dup (p.Met104fs)Pathogenic
Primary intraosseous venous malformation
β˜…β˜†β˜†β˜†2022β†’ Residue 104
NM_133171.5(ELMO2):c.1447C>T (p.Arg483Ter)Likely pathogenic
Primary intraosseous venous malformation
β˜…β˜†β˜†β˜†2021β†’ Residue 483
NM_133171.5(ELMO2):c.1802-1G>CLikely pathogenic
Primary intraosseous venous malformation
β˜…β˜†β˜†β˜†2020
NM_133171.5(ELMO2):c.1065+1G>APathogenic
Primary intraosseous venous malformation
β˜†β˜†β˜†β˜†2016
NM_133171.5(ELMO2):c.2080del (p.Leu694fs)Pathogenic
Primary intraosseous venous malformation
β˜†β˜†β˜†β˜†2016β†’ Residue 694
View on ClinVar β†—
Related Genes
ADGRB1Protein interaction99%WDR35Protein interaction98%RAC3Protein interaction98%DOCK1Protein interaction97%DOCK3Protein interaction97%RAC2Protein interaction97%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
80%
Lung
69%
Heart
51%
Ovary
43%
Liver
34%
Gene Interaction Network
Click a node to explore
ELMO2ADGRB1WDR35RAC3DOCK1DOCK3RAC2
PROTEIN STRUCTURE
Preparing viewer…
PDB6IDX Β· 1.70 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.49Moderately Constrained
pLIβ“˜
0.98Intolerant
Observed/Expected LoF0.37 [0.28–0.49]
RankingsWhere ELMO2 stands among ~20K protein-coding genes
  • #6,541of 20,598
    Most Researched72
  • #3,200of 5,498
    Most Pathogenic Variants7
  • #2,860of 17,882
    Most Constrained (LOEUF)0.49 Β· top quartile
Genes detectedELMO2
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
ELMO2 biallelic pathogenic variants in a patient with gingival hypertrophy and cherubism phenotype: Case report and molecular review.
PMID: 38517102
Am J Med Genet A Β· 2024
1.00
2
Involvement of Tiam1, RhoG and ELMO2/ILK in Rac1-mediated phagocytosis in human trabecular meshwork cells.
PMID: 27539661
Exp Cell Res Β· 2016
0.90
3
ELMO2 is an essential regulator of carotid artery development.
PMID: 40456777
Nat Commun Β· 2025
0.80
4
Emerging role of ILK and ELMO2 in the integration of adhesion and migration pathways.
PMID: 22568984
Cell Adh Migr Β· 2012
0.70
5
HGF-induced formation of the MET-AXL-ELMO2-DOCK180 complex promotes RAC1 activation, receptor clustering, and cancer cell migration and invasion.
PMID: 30108175
J Biol Chem Β· 2018
0.60