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GeneE
25 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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WNT1
Wnt family member 1
Chromosome 12 · 12q13.12
NCBI Gene: 7471Ensembl: ENSG00000125084.13HGNC: HGNC:12774UniProt: P04628
268PubMed Papers
22Diseases
0Drugs
46Pathogenic Variants
FUNCTIONAL ROLE
Hub GeneOncogene
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
negative regulation of BMP signaling pathwaycytoplasmpositive regulation of fibroblast proliferationpositive regulation of DNA-templated transcriptionosteogenesis imperfectaosteoporosisgenetic disorderidiopathic juvenile osteoporosis
✦AI Summary

WNT1 is a secreted signaling protein that serves as a ligand for frizzled family receptors and functions primarily in the canonical Wnt/β-catenin signaling pathway 1. The protein plays essential roles in bone development and homeostasis, with loss-of-function mutations causing osteogenesis imperfecta type XV, characterized by severe skeletal dysplasia, low bone mass, and frequent fractures 2. WNT1 variants significantly impair protein secretion and activity, leading to porous bone structure and enhanced osteoclastic activities 2. Single-cell transcriptomic analysis reveals that WNT1 loss disrupts normal differentiation trajectories of skeletal progenitors, resulting in impaired osteocyte maturation, excessive CXCL12+ progenitors, and abnormal cell populations with adipogenic characteristics 2. Beyond bone biology, WNT1 is implicated in cancer development, with elevated expression observed in polycystic ovarian syndrome oocytes 3 and its signaling contributing to tumor progression in mammary cancer models 14. In osteosarcoma, WNT1 hyperexpression is regulated by Sox9 and correlates with advanced clinical staging 5. The protein also functions as a bone-derived signaling factor involved in bone-muscle crosstalk 6.

Sources cited
1
WNT1 functions as a ligand in canonical Wnt/β-catenin signaling pathway and contributes to tumor progression
PMID: 33408116
2
WNT1 mutations cause osteogenesis imperfecta type XV with severe skeletal phenotypes and disrupted skeletal progenitor differentiation
PMID: 39126373
3
WNT1 shows elevated expression in oocytes from PCOS patients
PMID: 35357301
4
WNT1 hyperexpression in osteosarcoma is regulated by Sox9 and correlates with disease severity
PMID: 25197350
5
WNT1 signaling contributes to mammary tumor development
PMID: 41218118
6
WNT1 functions as a bone-derived signaling factor in bone-muscle interactions
PMID: 32519283
Disease Associationsⓘ22
osteogenesis imperfectaOpen Targets
0.69Moderate
osteoporosisOpen Targets
0.61Moderate
genetic disorderOpen Targets
0.47Moderate
idiopathic juvenile osteoporosisOpen Targets
0.40Moderate
X-linked osteoporosis with fracturesOpen Targets
0.40Moderate
osteogenesis imperfecta type 3Open Targets
0.40Moderate
osteogenesis imperfecta type 4Open Targets
0.37Weak
Uterine CarcinosarcomaOpen Targets
0.30Weak
neurodegenerative diseaseOpen Targets
0.29Weak
bone diseaseOpen Targets
0.18Weak
neoplasmOpen Targets
0.12Weak
connective tissue diseaseOpen Targets
0.12Weak
keratoconusOpen Targets
0.11Weak
breast cancerOpen Targets
0.11Weak
hepatocellular carcinomaOpen Targets
0.10Suggestive
bone fractureOpen Targets
0.09Suggestive
non-small cell lung carcinomaOpen Targets
0.09Suggestive
chronic kidney diseaseOpen Targets
0.08Suggestive
lung adenocarcinomaOpen Targets
0.08Suggestive
gastric cancerOpen Targets
0.08Suggestive
Osteogenesis imperfecta 15UniProt
OsteoporosisUniProt
Pathogenic Variants46
NM_005430.4(WNT1):c.506dup (p.Cys170fs)Pathogenic
Osteogenesis imperfecta type 15|not provided|Osteogenesis imperfecta
★★☆☆2025→ Residue 170
NM_005430.4(WNT1):c.69dup (p.Ala24fs)Pathogenic
not provided
★★☆☆2025→ Residue 24
NM_005430.4(WNT1):c.578del (p.Asp193fs)Pathogenic
not provided|Inborn genetic diseases
★★☆☆2024→ Residue 193
NM_005430.4(WNT1):c.884C>A (p.Ser295Ter)Pathogenic
Osteogenesis imperfecta type 15|not provided|Inborn genetic diseases|Osteogenesis imperfecta type 15;OSTEOPOROSIS, EARLY-ONSET, SUSCEPTIBILITY TO
★★☆☆2024→ Residue 295
NM_005430.4(WNT1):c.397G>A (p.Ala133Thr)Likely pathogenic
Osteogenesis imperfecta|OSTEOPOROSIS, EARLY-ONSET, SUSCEPTIBILITY TO;Osteogenesis imperfecta type 15
★★☆☆2024→ Residue 133
NM_005430.4(WNT1):c.681C>A (p.Cys227Ter)Pathogenic
not provided|Osteogenesis imperfecta type 15;OSTEOPOROSIS, EARLY-ONSET, SUSCEPTIBILITY TO
★★☆☆2024→ Residue 227
NM_005430.4(WNT1):c.999_1021del (p.Thr336fs)Pathogenic
not provided
★★☆☆2023→ Residue 336
NM_005430.4(WNT1):c.893T>G (p.Phe298Cys)Likely pathogenic
Osteogenesis imperfecta type 15
★★☆☆2022→ Residue 298
NM_005430.4(WNT1):c.1063G>T (p.Val355Phe)Likely pathogenic
Osteogenesis imperfecta type 15|Keratoconus|Osteogenesis imperfecta
★☆☆☆2025→ Residue 355
NM_005430.4(WNT1):c.1005_1027del (p.Thr336fs)Pathogenic
not provided
★☆☆☆2025→ Residue 336
NM_005430.4(WNT1):c.707del (p.Leu236fs)Pathogenic
not provided
★☆☆☆2025→ Residue 236
NM_005430.4(WNT1):c.703C>T (p.Arg235Trp)Likely pathogenic
OSTEOPOROSIS, EARLY-ONSET, SUSCEPTIBILITY TO|not provided
★☆☆☆2025→ Residue 235
NM_005430.4(WNT1):c.1026del (p.Glu343fs)Pathogenic
Osteogenesis imperfecta type 15|not provided
★☆☆☆2025→ Residue 343
NM_005430.4(WNT1):c.1035C>A (p.Cys345Ter)Pathogenic
not provided
★☆☆☆2024→ Residue 345
NM_005430.4(WNT1):c.437G>A (p.Gly146Asp)Likely pathogenic
Osteogenesis imperfecta type 15
★☆☆☆2024→ Residue 146
NM_005430.4(WNT1):c.990C>A (p.Cys330Ter)Pathogenic
not provided
★☆☆☆2024→ Residue 330
NM_005430.4(WNT1):c.105-1G>ALikely pathogenic
not provided
★☆☆☆2024
NM_005430.4(WNT1):c.393del (p.Ser132fs)Likely pathogenic
OSTEOPOROSIS, EARLY-ONSET, SUSCEPTIBILITY TO;Osteogenesis imperfecta type 15
★☆☆☆2024→ Residue 132
NM_005430.4(WNT1):c.547del (p.Glu183fs)Pathogenic
not provided
★☆☆☆2023→ Residue 183
NM_005430.4(WNT1):c.529G>T (p.Gly177Cys)Likely pathogenic
not provided
★☆☆☆2023→ Residue 177
View on ClinVar ↗
Related Genes
AXIN1Protein interaction100%WLSProtein interaction99%DVL3Protein interaction99%FZD4Protein interaction99%PORCNProtein interaction98%LRP5Protein interaction98%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
5%
Liver
3%
Ovary
1%
Brain
1%
Heart
0%
Gene Interaction Network
Click a node to explore
WNT1AXIN1WLSDVL3FZD4PORCNLRP5
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt P04628
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.96LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.60 [0.39–0.96]
RankingsWhere WNT1 stands among ~20K protein-coding genes
  • #1,392of 20,598
    Most Researched268 · top 10%
  • #1,397of 5,498
    Most Pathogenic Variants46
  • #8,997of 17,882
    Most Constrained (LOEUF)0.96
Genes detectedWNT1
Sources retrieved25 papers
Response time—
📄 Sources
25▼
1
Bone-Muscle Mutual Interactions.
PMID: 32519283
Curr Osteoporos Rep · 2020
1.00
2
GPR97 deficiency suppresses Wnt/β-catenin signaling in hypertensive nephropathy.
PMID: 38345813
FASEB J · 2024
0.92
3
E7386, a Selective Inhibitor of the Interaction between β-Catenin and CBP, Exerts Antitumor Activity in Tumor Models with Activated Canonical Wnt Signaling.
PMID: 33408116
Cancer Res · 2021
0.90
4
Prognostic Significance of Wnt1, Wnt2, E-Cadherin, and β-catenin Expression in Operable Non-small Cell Lung Cancer.
PMID: 34666560
J Histochem Cytochem · 2021
0.88
5
Wnt1 inducible signalling pathway protein-2 (WISP‑2/CCN5): roles and regulation in human cancers (review).
PMID: 24337439
Oncol Rep · 2014
0.80