EMILIN2
Chr 18elastin microfibril interfacer 2
Also known as: EMILIN-2, FOAP-10
EMILIN2 encodes a protein that anchors smooth muscle cells to elastic fibers in blood vessels and contributes to elastic fiber formation and vessel assembly. Mutations cause autosomal recessive distal arthrogryposis type 10, characterized by congenital joint contractures primarily affecting the hands and feet. The gene shows no intolerance to loss-of-function variants based on population data.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in 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.
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