AlphaFold predicted structure
ZNRF3 · Q9ULT6
Mean pLDDT
50.7/ 100
Low
936 residues
Confidence breakdown
- Very high(≥ 90)10%
- Confident(70–90)16%
- Low(50–70)6%
- Very low(< 50)68%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
ZNRF3
Chr 22q12.1zinc and ring finger 3
- Aliases:
- KIAA1133, BK747E2.3, FLJ22057, RNF203
- MANE:
- ENST00000544604.7
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownPaediatric disorders - additional genes
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedFetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownIntellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Disease associations (Open Targets)
complex neurodevelopmental disorder
0.54hypertensive disorder
0.45prostate carcinoma
0.40breast carcinoma
0.39congenital heart disease
0.37type 2 diabetes mellitus
0.36Uterine leiomyoma
0.35alcohol drinking
0.32breast cancer
0.29adrenal cortex carcinoma
0.28
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
E3 ubiquitin-protein ligase ZNRF3
E3 ubiquitin-protein ligase that acts as a negative regulator of the Wnt signaling pathway by mediating the ubiquitination and subsequent degradation of Wnt receptor complex components Frizzled and LRP6. Acts on both canonical and non-canonical Wnt signaling pathway. Acts as a tumor suppressor in the intestinal stem cell zone by inhibiting the Wnt signaling pathway, thereby restricting the size of the intestinal stem cell zone (PubMed:22575959). Along with RSPO2 and RNF43, constitutes a master switch that governs limb specification (By similarity)
Diseases associated with ZNRF3
Curated MONDO disease pages that list ZNRF3 among their top associated genes.