POSTN
Chr 13periostin
Also known as: OSF-2, OSF2, PDLPOSTN, PN
The protein encoded by this gene is a secreted extracellular matrix protein that binds to integrins to support cell adhesion and migration, and enhances incorporation of proteins involved in connective tissue formation. Mutations cause autosomal recessive osteogenesis imperfecta type XV, characterized by bone fragility, skeletal deformities, and dental abnormalities. This gene shows minimal constraint against loss-of-function variants, consistent with a recessive inheritance pattern where heterozygous carriers are typically unaffected.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
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
POSTN · 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
External Resources
Links to major genomics databases and tools