AlphaFold predicted structure
WIPI2 · Q9Y4P8

Mean pLDDT
76.0/ 100
Confident
454 residues
Confidence breakdown
- Very high(≥ 90)60%
- Confident(70–90)7%
- Low(50–70)7%
- Very low(< 50)27%
AlphaFold (Jumper et al., 2021) · CC BY 4.0
WD repeat domain, phosphoinositide interacting 2
Annotations refreshed 9 hours ago.
Diagnostic Grade (Green)
DDG2P
BIALLELIC, autosomal or pseudoautosomalIntellectual disability
BIALLELIC, autosomal or pseudoautosomalintellectual developmental disorder with short stature and variable skeletal anomalies
neurodegenerative disease
autosomal recessive non-syndromic intellectual disability
smoking initiation
lysosomal storage disease
breast carcinoma
post term pregnancy
retinitis pigmentosa
Progressive cone dystrophy
facial nerve disorder
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
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)
WIPI2 · Q9Y4P8

Mean pLDDT
76.0/ 100
Confident
454 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0