ELMO1

Chr 7

engulfment and cell motility 1

Also known as: CED-12, CED12, ELMO-1

NCBI Gene: 9844ENSG00000155849UniProt: Q92556

This gene encodes a member of the engulfment and cell motility protein family. These proteins interact with dedicator of cytokinesis proteins to promote phagocytosis and cell migration. Increased expression of this gene and dedicator of cytokinesis 1 may promote glioma cell invasion, and single nucleotide polymorphisms in this gene may be associated with diabetic nephropathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]

84
ClinVar variants
20
Pathogenic / LP
0.90
pLI score
0
Active trials
Clinical Summary— ELMO1
⚡
Population Constraint (gnomAD)
Moderately constrained gene (pLI 0.90) — some intolerance to loss-of-function variants.
📋
ClinVar Variants
20 Pathogenic / Likely Pathogenic· 63 VUS of 84 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Dual constrained — LoF & missense intolerant
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
0.33LOEUF
pLI 0.900
Z-score 5.15
OE 0.19 (0.11–0.33)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
3.13Z-score
OE missense 0.58 (0.52–0.64)
253 obs / 437.1 exp
Constrained

Highly missense-constrained (top ~0.1%)

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.19 (0.11–0.33)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.58 (0.52–0.64)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.1.05
0≤1.21.6
LoF obs/exp: 9 / 47.1Missense obs/exp: 253 / 437.1Syn Z: -0.48

ClinVar Variant Classifications

84 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic17
Likely Pathogenic3
VUS63
Benign1
17
Pathogenic
3
Likely Pathogenic
63
VUS
1
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
17
0
17
Likely Pathogenic
0
0
3
0
3
VUS
0
58
5
0
63
Likely Benign
0
0
0
0
0
Benign
0
0
1
0
1
Total05826084

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

ELMO1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Role of ELMO1 in inflammation and cancer-clinical implications.
Tocci S et al.·Cell Oncol (Dordr)
2022Review
TNF-α-mediated m(6)A modification of ELMO1 triggers directional migration of mesenchymal stem cell in ankylosing spondylitis.
Xie Z et al.·Nat Commun
2021
LGR6 modulates intervertebral disc degeneration through regulation of macrophage efferocytosis.
Li F et al.·J Transl Med
2025
Engulfment and Cell Motility 1 (ELMO1) Regulates Tumor Cell Behavior and Predicts Prognosis in Colorectal Cancer.
Park YL et al.·Anticancer Res
2022
High Elmo1 expression aggravates and low Elmo1 expression prevents diabetic nephropathy.
Hathaway CK et al.·Proc Natl Acad Sci U S A
2016
Acetylation of ELMO1 correlates with Rac1 activity and colorectal cancer progress.
Li C et al.·Exp Cell Res
2024
CXCL12/CXCR4 modulates macrophage efferocytosis to induce glomerular crescent formation and fibrosis via ELMO1/DOCK180/RAC1 signaling in ANCA-associated glomerulonephritis.
Liu Z et al.·Cell Mol Life Sci
2025
Essential role of Elmo1 in Dock2-dependent lymphocyte migration.
Stevenson C et al.·J Immunol
2014
C1QL1 regulates auditory nerve fibers growth via ELMO1-DOCK180-RAC1 integrin.
Chen M et al.·Acta Otolaryngol
2025
Genomic approaches in the search for molecular biomarkers in chronic kidney disease.
Cañadas-Garre M et al.·J Transl Med
2018Review
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Interaction between ELMO1 DNA methylation and Med31 promotes H. pylori-induced gastric cancer EMT and intestinal metaplasia via M2 polarization.
Lu T et al.·Sci Rep
2026🔓 Open Access
Downregulation of Engulfment and cell motility 1 (Elmo1) induces quiescence and resistance to poly(I:C)-induced apoptosis in endothelial cells.
Kayashima Y et al.·Cell Death Dis
2025🔓 Open Access
Proteome profiling indicates a link between mitochondrial pathways and the host-microbial sensor ELMO1 following Salmonella infection.
Achi SC et al.·Gut Microbes
2025🔓 Open Access
Conformational alteration of DOCK5•ELMO1 signalosome on lipid membrane.
Shinoda T et al.·Commun Biol
2025🔓 Open Access
Vitamin B12 Protects the Exacerbated Ischemia-Reperfusion Injury-Induced Chronic Kidney Disease in Mice with Genetically Increased Elmo1.
Zhou J et al.·Antioxidants (Basel)
2025🔓 Open Access
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools