EMILIN1
Chr 2ARADelastin microfibril interfacer 1
Also known as: ATBFS, EMI, EMILIN, HMN10, HMND10, gp115
The protein is involved in elastic and collagen fiber formation in the extracellular matrix and is required for collagen network assembly and cross-linking, particularly at the interface between elastin and microfibrils in blood vessels, skin, heart and lung. Mutations cause arterial tortuosity-bone fragility syndrome (autosomal recessive) and distal hereditary motor neuronopathy type 10 (autosomal dominant). The gene shows moderate constraint against loss-of-function variants, reflecting its importance in connective tissue and vascular development.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
This gene has evidence for multiple mechanisms of pathogenicity (dominant-negative and gain-of-function). Both the Badonyi & Marsh prediction and the broader genomic evidence point to dominant-negative as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
266 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 5 | 1 | 14 | 0 | 20 |
Likely Pathogenic | 1 | 0 | 1 | 0 | 2 |
VUS | 0 | 195 | 8 | 0 | 203 |
Likely Benign | 0 | 8 | 3 | 4 | 15 |
Benign | 0 | 5 | 2 | 3 | 10 |
Conflicting | — | 5 | |||
| Total | 6 | 209 | 28 | 7 | 255 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
EMILIN1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools