MIA3
Chr 1ARMIA SH3 domain ER export factor 3
Also known as: D320, ODCD2, TANGO, TANGO1, UNQ6077
This protein functions as a cargo receptor that loads large proteins like collagen VII and lipoproteins into transport vesicles for export from the endoplasmic reticulum. Biallelic mutations cause odontochondrodysplasia 2, a syndrome involving skeletal dysplasia, hearing loss, and diabetes mellitus. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.354) and follows autosomal recessive inheritance.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
The highest-scoring mechanism for this gene is dominant-negative.
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
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
MIA3 · 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