AlphaFold predicted structure
PHIP · Q8WWQ0
Mean pLDDT
66.1/ 100
Low
1,821 residues
Confidence breakdown
- Very high(≥ 90)32%
- Confident(70–90)26%
- Low(50–70)7%
- Very low(< 50)35%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
PHIP
Chr 6q14.1PHIP subunit of CUL4-Ring ligase complex
- Aliases:
- ndrp, BRWD2, RepID, DCAF14, FLJ20705
- MANE:
- ENST00000275034.5
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownFetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownIntellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedSevere early-onset obesity
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Disease associations (Open Targets)
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
0.80Intellectual disability
0.54hereditary disease
0.54obesity due to melanocortin 4 receptor deficiency
0.38Obesity
0.38obesity disorder
0.38Global developmental delay
0.38Abnormal facial shape
0.37Atypical behavior
0.37schizophrenia
0.34
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
PH-interacting protein
Probable regulator of the insulin and insulin-like growth factor signaling pathways. Stimulates cell proliferation through regulation of cyclin transcription and has an anti-apoptotic activity through AKT1 phosphorylation and activation. Plays a role in the regulation of cell morphology and cytoskeletal organization
Diseases associated with PHIP
Curated MONDO disease pages that list PHIP among their top associated genes.