AlphaFold predicted structure
WDR45B · Q5MNZ6
Mean pLDDT
94.8/ 100
Very high
344 residues
Confidence breakdown
- Very high(≥ 90)90%
- Confident(70–90)6%
- Low(50–70)4%
- Very low(< 50)1%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
WDR45B
Chr 17q25.3WD repeat domain 45B
- Aliases:
- WIPI3
- MANE:
- ENST00000392325.9
Annotations refreshed 10 hours ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Childhood onset hereditary spastic paraplegia
BIALLELIC, autosomal or pseudoautosomalDDG2P
BIALLELIC, autosomal or pseudoautosomalEarly onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalHereditary spastic paraplegia
BIALLELIC, autosomal or pseudoautosomalIntellectual disability
BIALLELIC, autosomal or pseudoautosomalAdult onset hereditary spastic paraplegia
BIALLELIC, autosomal or pseudoautosomalAdult onset neurodegenerative disorder
BIALLELIC, autosomal or pseudoautosomal
Disease associations (Open Targets)
neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures
0.68autosomal recessive non-syndromic intellectual disability
0.37hair color
0.34hereditary disease
0.34hepatocellular carcinoma
0.09metabolic syndrome
0.07alcohol drinking
0.03placental abruption
0.03cancer
0.02neoplasm
0.02
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
WD repeat domain phosphoinositide-interacting protein 3
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:28561066). Binds phosphatidylinositol 3-phosphate (PtdIns3P), and other phosphoinositides including PtdIns(3,5)P2, forming on membranes of the endoplasmic reticulum upon activation of the upstream ULK1 and PI3 kinases and is recruited at phagophore assembly sites where it regulates the elongation of nascent phagophores downstream of WIPI2 (PubMed:28561066, PubMed:30797857). In the cellular response to starvation, may also function together with the TSC1-TSC2 complex and RB1CC1 in the inhibition of the mTORC1 signaling pathway (PubMed:28503735)