INPPL1
Chr 11ARinositol polyphosphate phosphatase like 1
Also known as: OPSMD, SHIP2
The protein is a phosphatidylinositol phosphatase that hydrolyzes PtdIns(3,4,5)P3 to negatively regulate PI3K signaling pathways and plays essential roles in actin cytoskeleton remodeling, cell adhesion, mitotic spindle orientation, and endochondral ossification. Biallelic mutations cause opsismodysplasia, a severe skeletal dysplasia with autosomal recessive inheritance. The gene is highly constrained against loss-of-function variation (LOEUF 0.423), indicating strong selective pressure for normal gene function.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
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
INPPL1 · 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