Skip to content
GenoLensGenoLens

WIPI2

Chr 7p22.1

WD repeat domain, phosphoinositide interacting 2

Aliases:
ATG21, CGI-50, FLJ12979, FLJ14217, FLJ42984
MANE:
ENST00000288828.9

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • DDG2P

    BIALLELIC, autosomal or pseudoautosomal
  • Intellectual disability

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • intellectual developmental disorder with short stature and variable skeletal anomalies

    0.63
  • neurodegenerative disease

    0.54
  • autosomal recessive non-syndromic intellectual disability

    0.46
  • smoking initiation

    0.38
  • lysosomal storage disease

    0.37
  • breast carcinoma

    0.34
  • post term pregnancy

    0.22
  • retinitis pigmentosa

    0.11
  • Progressive cone dystrophy

    0.10
  • facial nerve disorder

    0.09

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

WD repeat domain phosphoinositide-interacting protein 2

Component of the autophagy machinery that controls the major intracellular degradation process by which cytoplasmic materials are packaged into autophagosomes and delivered to lysosomes for degradation (PubMed:20505359, PubMed:28561066). Involved in an early step of the formation of preautophagosomal structures (PubMed:20505359, PubMed:28561066). Binds and is activated by phosphatidylinositol 3-phosphate (PtdIns3P) forming on membranes of the endoplasmic reticulum upon activation of the upstream ULK1 and PI3 kinases (PubMed:28561066). Mediates ER-isolation membranes contacts by interacting with the ULK1:RB1CC1 complex and PtdIns3P (PubMed:28890335). Once activated, WIPI2 recruits at phagophore assembly sites the ATG12-ATG5-ATG16L1 complex that directly controls the elongation of the nascent autophagosomal membrane (PubMed:20505359, PubMed:28561066)

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.