EMILIN2

Chr 18

elastin microfibril interfacer 2

Also known as: EMILIN-2, FOAP-10

NCBI Gene: 84034ENSG00000132205UniProt: Q9BXX0OMIM: 608928

Predicted to enable extracellular matrix constituent conferring elasticity. Involved in several processes, including positive regulation of angiogenesis; positive regulation of defense response to bacterium; and positive regulation of platelet aggregation. Located in extracellular region. [provided by Alliance of Genome Resources, Jul 2025]

OMIMResearchGenerating clinical summary…
0
Active trials
9
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.05
LOEUF
—
Mechanism

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.05LOEUF
pLI 0.000
Z-score 1.32
OE 0.76 (0.55–1.05)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.27Z-score
OE missense 0.97 (0.90–1.04)
518 obs / 535.7 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.76 (0.55–1.05)
0≤0.351.4
Missense OE?0.97 (0.90–1.04)
0≤0.61.4
Synonymous OE?1.02
0≤1.21.6
LoF obs/exp: 26 / 34.3Missense obs/exp: 518 / 535.7Syn Z: -0.22

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

EMILIN2 · 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