WNT1

Chr 12q13.12

Wnt family member 1

MANE:: ENST00000293549.4

OMIM: 164820 ↗NCBI: 7471 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

WNT1 · P04628

v62025-08-01

Predicted Aligned Error matrix for WNT1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

85.9/ 100

Confident

370 residues

Confidence breakdown

Very high(≥ 90)72%
Confident(70–90)11%
Low(50–70)6%
Very low(< 50)11%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Osteogenesis imperfecta
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Skeletal dysplasia
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Disease associations (Open Targets)

osteogenesis imperfecta
0.74
osteoporosis
0.62
hereditary disease
0.47
osteogenesis imperfecta type 3
0.40
idiopathic juvenile osteoporosis
0.40
X-linked osteoporosis with fractures
0.40
osteogenesis imperfecta type 4
0.37
uterine carcinosarcoma
0.30
neurodegenerative disease
0.29
bone disorder
0.18

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

Protein function (UniProt)

Proto-oncogene Wnt-1

Ligand for members of the frizzled family of seven transmembrane receptors (Probable). Acts in the canonical Wnt signaling pathway by promoting beta-catenin-dependent transcriptional activation (PubMed:23499309, PubMed:23656646, PubMed:26902720, PubMed:28528193). In some developmental processes, is also a ligand for the coreceptor RYK, thus triggering Wnt signaling (By similarity). Plays an essential role in the development of the embryonic brain and central nervous system (CNS) (By similarity). Has a role in osteoblast function, bone development and bone homeostasis (PubMed:23499309, PubMed:23656646)