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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
WNT7A
Wnt family member 7A
Chromosome 3 Β· 3p25.1
NCBI Gene: 7476Ensembl: ENSG00000154764.6HGNC: HGNC:12786UniProt: O00755
107PubMed Papers
23Diseases
0Drugs
9Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
positive regulation of epithelial cell proliferation involved in wound healingcanonical Wnt signaling pathwayWnt signaling pathway, planar cell polarity pathwaydendritic spine morphogenesisphocomelia, Schinzel typeFuhrmann syndromeirritable bowel syndromepolydactyly
✦AI Summary

WNT7A is a secreted ligand of the Wnt family that activates canonical and non-canonical Wnt signaling pathways through interaction with frizzled receptors and co-receptors like RECK and GPR124 12. Functionally, WNT7A plays critical roles in embryonic development, including limb and skeletal patterning, urogenital tract development, and central nervous system angiogenesis with blood-brain barrier regulation 12. In the cornea, WNT7A controls epithelial cell fate determination through PAX6, maintaining limbal stem cell homeostasis and preventing keratinization-related blindness 3. WNT7A also protects articular cartilage by inhibiting IL-1Ξ²-induced matrix metalloproteinase expression through NFAT signaling, with therapeutic potential in osteoarthritis 4. In the CNS, WNT7 signaling (Wnt7a/7b) regulates glioma-vascular interactions and blood-brain barrier integrity, with implications for anti-angiogenic therapy resistance 5. Dysregulation of WNT7A is associated with multiple human diseases: recessive mutations cause severe limb and pelvic bone defects (Fuhrmann and Santos syndromes) 1, while elevated expression promotes cancer progression, including pancreatic ductal adenocarcinoma through Wnt/Ξ²-catenin pathway activation and epithelial-mesenchymal transition 6. These findings establish WNT7A as a multifunctional developmental regulator with significant disease relevance in skeletal disorders, sensory tissue homeostasis, and cancer biology.

Sources cited
1
WNT7A regulates developmental processes including limb development, reproductive organs, and CNS; WNT7a mutations cause limb/pelvic defects and infertility; WNT7A alterations correlate with cancer
PMID: 40815867
2
WNT7A biogenesis involves PORCN lipidation, WLS binding, and CALR-mediated transfer; WNT7a is crucial for CNS angiogenesis and blood-brain barrier maintenance; RECK is a Wnt7-specific co-receptor
PMID: 37852257
3
WNT7A-PAX6 axis controls corneal epithelium differentiation from limbal stem cells; WNT7A loss induces skin-like epithelium; reprogrammed cells can repair damaged corneal surface
PMID: 25030175
4
Wnt7a inhibits IL-1Ξ²-induced MMP and iNOS expression in chondrocytes through NFAT signaling; intra-articular Wnt7a injection attenuates cartilage damage in experimental osteoarthritis
PMID: 28165497
5
CircPHF14 stabilizes WNT7A mRNA via PABPC1 interaction, activating Wnt/Ξ²-catenin pathway to promote PDAC growth and metastasis via EMT
PMID: 40001070
6
Olig2 promotes Wnt7b expression in gliomas; Wnt7a/7b deletion blocks vessel co-option and enhances temozolomide response; Wnt7 regulates BBB integrity
PMID: 29681511
7
Gpr124 facilitates delivery of Reck-bound Wnt7a/b ligands to Frizzled in CNS endothelium through species-specific receptor mechanisms
PMID: 35649360
Disease Associationsβ“˜23
phocomelia, Schinzel typeOpen Targets
0.78Strong
Fuhrmann syndromeOpen Targets
0.76Strong
irritable bowel syndromeOpen Targets
0.42Moderate
polydactylyOpen Targets
0.37Weak
neurodegenerative diseaseOpen Targets
0.36Weak
Santos syndromeOpen Targets
0.33Weak
pericarditisOpen Targets
0.32Weak
iron metabolism diseaseOpen Targets
0.31Weak
Abnormality of the skeletal systemOpen Targets
0.21Weak
genetic disorderOpen Targets
0.19Weak
congenital anomaly of cardiovascular systemOpen Targets
0.19Weak
Sensorineural hearing impairmentOpen Targets
0.18Weak
familial hemolytic anemiaOpen Targets
0.17Weak
circadian rhythm sleep disorderOpen Targets
0.17Weak
acute cystitisOpen Targets
0.16Weak
alcohol drinkingOpen Targets
0.16Weak
frozen shoulderOpen Targets
0.15Weak
Abruptio PlacentaeOpen Targets
0.12Weak
connective tissue diseaseOpen Targets
0.12Weak
non-small cell lung carcinomaOpen Targets
0.12Weak
Fuhrmann syndromeUniProt
Limb pelvis hypoplasia aplasia syndromeUniProt
Santos syndromeUniProt
Pathogenic Variants9
NM_004625.4(WNT7A):c.610G>A (p.Gly204Ser)Pathogenic
Schinzel phocomelia syndrome|not provided|Fuhrmann syndrome
β˜…β˜…β˜†β˜†2024β†’ Residue 204
NM_004625.4(WNT7A):c.71+1G>ALikely pathogenic
Fuhrmann syndrome
β˜…β˜†β˜†β˜†2025
NM_004625.4(WNT7A):c.399C>A (p.Cys133Ter)Likely pathogenic
Fuhrmann syndrome;Schinzel phocomelia syndrome;Santos syndrome
β˜…β˜†β˜†β˜†2025β†’ Residue 133
NM_004625.4(WNT7A):c.874C>T (p.Arg292Cys)Likely pathogenic
Schinzel phocomelia syndrome
β˜…β˜†β˜†β˜†2024β†’ Residue 292
NM_004625.4(WNT7A):c.814G>T (p.Glu272Ter)Pathogenic
Schinzel phocomelia syndrome
β˜†β˜†β˜†β˜†2024β†’ Residue 272
NM_004625.4(WNT7A):c.304C>T (p.Arg102Trp)Pathogenic
Schinzel phocomelia syndrome
β˜†β˜†β˜†β˜†2016β†’ Residue 102
NM_004625.4(WNT7A):c.214G>A (p.Glu72Lys)Pathogenic
Schinzel phocomelia syndrome
β˜†β˜†β˜†β˜†2011β†’ Residue 72
NM_004625.4(WNT7A):c.664C>T (p.Arg222Trp)Pathogenic
Schinzel phocomelia syndrome
β˜†β˜†β˜†β˜†2010β†’ Residue 222
NM_004625.4(WNT7A):c.325G>A (p.Ala109Thr)Pathogenic
Fuhrmann syndrome
β˜†β˜†β˜†β˜†2006β†’ Residue 109
View on ClinVar β†—
Related Genes
GSK3BProtein interaction99%PORCNProtein interaction95%NOTUMProtein interaction94%FZD2Protein interaction93%LRP6Protein interaction93%LRP5Protein interaction93%
Tissue Expression6 tissues
Lung
100%
Bone Marrow
98%
Brain
93%
Liver
2%
Ovary
0%
Heart
0%
Gene Interaction Network
Click a node to explore
WNT7AGSK3BPORCNNOTUMFZD2LRP6LRP5
PROTEIN STRUCTURE
Preparing viewer…
PDB4UZQ Β· 1.50 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.81LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.54 [0.37–0.81]
RankingsWhere WNT7A stands among ~20K protein-coding genes
  • #4,463of 20,598
    Most Researched107 Β· top quartile
  • #2,941of 5,498
    Most Pathogenic Variants9
  • #6,752of 17,882
    Most Constrained (LOEUF)0.81
Genes detectedWNT7A
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
WNT7A.
PMID: 40815867
Differentiation Β· 2025
1.00
2
Molecular basis of Wnt biogenesis, secretion, and Wnt7-specific signaling.
PMID: 37852257
Cell Β· 2023
0.90
3
TREM-2 defends the liver against hepatocellular carcinoma through multifactorial protective mechanisms.
PMID: 32907830
Gut Β· 2021
0.80
4
WNT7A and PAX6 define corneal epithelium homeostasis and pathogenesis.
PMID: 25030175
Nature Β· 2014
0.70
5
EIF4E-mediated biogenesis of circPHF14 promotes the growth and metastasis of pancreatic ductal adenocarcinoma via Wnt/Ξ²-catenin pathway.
PMID: 40001070
Mol Cancer Β· 2025
0.60