WIPI2
Chr 7ARWD repeat domain, phosphoinositide interacting 2
Also known as: ATG18B, Atg21, CGI-50, IDDSSA, WIPI-2
WIPI2 encodes a component of the autophagy machinery that controls intracellular degradation by packaging cytoplasmic materials into autophagosomes for delivery to lysosomes, and is involved in early formation of preautophagosomal structures. Autosomal recessive mutations cause intellectual developmental disorder with short stature and variable skeletal anomalies. The gene shows tolerance to loss-of-function variants (pLI 0.006, LOEUF 0.619), consistent with the recessive inheritance pattern.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
WIPI2 · 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