ADAMTSL2
Chr 9ARADAMTS like 2
Also known as: ADAMTSL-2, GPHYSD1
The protein is a secreted glycoprotein that binds to the cell surface and extracellular matrix and interacts with latent transforming growth factor beta binding protein 1. Mutations cause geleophysic dysplasia 1, a skeletal dysplasia with characteristic facial features, short stature, and cardiac abnormalities that typically presents in early childhood. Inheritance is autosomal recessive.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
ADAMTSL2 · 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