WIPI2

Chr 7AR

WD repeat domain, phosphoinositide interacting 2

Also known as: ATG18B, Atg21, CGI-50, IDDSSA, WIPI-2

NCBI Gene: 26100 ENSG00000157954 UniProt: Q9Y4P8 OMIM: 609225

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.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

WD40 repeat proteins are key components of many essential biologic functions. They regulate the assembly of multiprotein complexes by presenting a beta-propeller platform for simultaneous and reversible protein-protein interactions. Members of the WIPI subfamily of WD40 repeat proteins, such as WIPI2, have a 7-bladed propeller structure and contain a conserved motif for interaction with phospholipids (Proikas-Cezanne et al., 2004 [PubMed 15602573]).[supplied by OMIM, Mar 2008]

OMIM ResearchGenerating clinical summary…

LOFmechanismARLOEUF 0.621 OMIM phenotype

Clinical Summary— WIPI2

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Population Constraint (gnomAD)

Constrained for loss-of-function variants (OE-LoF 0.34) despite low pLI — interpret in context.

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