ELMOD2

Chr 4

ELMO domain containing 2

Also known as: 9830169G11Rik

NCBI Gene: 255520ENSG00000179387UniProt: Q8IZ81OMIM: 610196

This gene encodes one of six engulfment and motility (ELMO) domain-containing proteins. This gene is thought to play a role in antiviral responses. Mutations in this gene may be involved in the cause of familial idiopathic pulmonary fibrosis. [provided by RefSeq, Sep 2010]

OMIMResearchGenerating clinical summary…

Clinical highlights

Gene-disease validity (ClinGen)
idiopathic pulmonary fibrosis · UDNo Known Disease Relationshipno established gene-disease relationship
Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.
0
Active trials
2
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.50
LOEUF
—
Mechanism

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?
0.50LOEUF
pLI 0.418
Z-score 3.10
OE 0.22 (0.11–0.50)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
0.56Z-score
OE missense 0.87 (0.75–1.01)
129 obs / 148.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.22 (0.11–0.50)
0≤0.351.4
Missense OE?0.87 (0.75–1.01)
0≤0.61.4
Synonymous OE?0.95
0≤1.21.6
LoF obs/exp: 4 / 18.3Missense obs/exp: 129 / 148.4Syn Z: 0.25

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

ELMOD2 · protein map & ClinVar variants

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

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

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients