WNT7A
Wnt Family Member 7A: A Key Regulator of Development and Disease
Gene Information Card
| Symbol | WNT7A |
|---|---|
| Full Name | Wnt Family Member 7A |
| Gene Type | Protein coding |
| Chromosomal Location | 3p25.1 |
| NCBI Gene ID | 7476 ncbi.nlm.nih.gov/gene/7476 |
| Ensembl ID | ENSG00000154764 |
| UniProt ID | O00755 |
| OMIM ID | 601570 |
| HGNC ID | 12786 |
| Aliases | Wnt-7a, WNT7A_HUMAN |
Description
WNT7A (Wnt Family Member 7A) is a protein-coding gene that encodes a secreted signaling protein belonging to the Wnt family. Wnt proteins are involved in various developmental processes, including cell fate determination, proliferation, migration, and polarity. WNT7A specifically plays a critical role in embryonic limb development, particularly in the dorsal-ventral patterning of the limb and the formation of the apical ectodermal ridge. It also functions in the development of the female reproductive tract, the central nervous system, and the kidney. Mutations in WNT7A are associated with limb malformation syndromes such as Fuhrmann syndrome and Al-Awadi/Raas-Rothschild syndrome. Additionally, aberrant WNT7A signaling has been implicated in several cancers, including colorectal, lung, and breast cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Fuhrmann syndrome | Loss-of-function mutations in WNT7A disrupt limb development, leading to fibular aplasia/hypoplasia, oligodactyly, and nail dysplasia. | OMIM #228930 |
| Al-Awadi/Raas-Rothschild syndrome | Homozygous loss-of-function mutations in WNT7A cause severe limb malformations, including aplasia of the ulna and fibula, and severe oligodactyly. | OMIM #276820 |
| Limb-body wall complex | WNT7A mutations may contribute to this severe congenital disorder involving limb and body wall defects. | ClinVar |
| Colorectal cancer | WNT7A acts as a tumor suppressor; reduced expression is associated with poor prognosis and metastasis. | COSMIC, NCBI |
| Non-small cell lung cancer | WNT7A expression is frequently downregulated, and its loss promotes epithelial-mesenchymal transition (EMT) and invasion. | COSMIC, NCBI |
| Breast cancer | WNT7A can function as a tumor suppressor; its loss is associated with increased metastasis and poor survival. | COSMIC, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 8.2 | Low |
| Heart | 6.1 | Low |
| Liver | 1.3 | Not detected |
| Kidney | 15.4 | Medium |
| Testis | 20.1 | Medium |
| Ovary | 18.7 | Medium |
| Uterus | 22.3 | High |
| Placenta | 25.6 | High |
| Skin | 14.8 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 (liver cancer) | 0.5 | Not detected |
| A549 (lung cancer) | 3.2 | Low |
| MCF7 (breast cancer) | 8.9 | Low |
| HeLa (cervical cancer) | 12.1 | Medium |
| K562 (leukemia) | 1.8 | Not detected |
| SH-SY5Y (neuroblastoma) | 15.6 | Medium |
| HT-29 (colorectal cancer) | 2.1 | Low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.511C>T (p.Arg171Cys) | Missense | Rare | Loss-of-function; associated with Fuhrmann syndrome |
| c.1A>G (p.Met1Val) | Missense | Rare | Loss-of-function; associated with Al-Awadi/Raas-Rothschild syndrome |
| c.887G>A (p.Arg296His) | Missense | Rare | Loss-of-function; associated with limb malformations |
| c.1063C>T (p.Arg355*) | Nonsense | Rare | Loss-of-function; truncating mutation |
| c.1234_1235del (p.Leu412Valfs*5) | Frameshift | Rare | Loss-of-function; frameshift leading to premature stop |
Mutation functional classification
Loss of Function (LOF)
Most WNT7A mutations are loss-of-function, leading to reduced or absent protein activity, which disrupts Wnt signaling and causes limb malformations.
Gain of Function (GOF)
Gain-of-function mutations in WNT7A are not well-documented; however, overexpression in some cancers may contribute to tumor progression.
Dominant Negative (DN)
No dominant-negative mutations have been reported for WNT7A.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Wnt signaling pathway (KEGG: hsa04310)
• Wnt/beta-catenin signaling
• Planar cell polarity pathway
• Wnt/Ca2+ pathway
• Embryonic limb development
Protein Summary
WNT7A is a secreted glycoprotein of approximately 39 kDa that belongs to the Wnt family. It is highly conserved across species and contains a signal peptide for secretion, a conserved Wnt domain, and multiple cysteine residues that form disulfide bonds critical for proper folding and function. WNT7A binds to frizzled receptors and LRP5/6 co-receptors to activate canonical (beta-catenin-dependent) and non-canonical signaling pathways. In limb development, WNT7A is essential for dorsal-ventral patterning and the maintenance of the apical ectodermal ridge. In cancer, loss of WNT7A expression is associated with increased invasiveness and metastasis, suggesting a tumor suppressor role in certain contexts.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| WNT7A Knockout HEK293 Cell Line | EDJ-KQ355 | Human | 7476 | Details Get a Quote |
| WNT7A Knockout HeLa Cell Line | EDJ-KQ54752 | Human | 7476 | Details Get a Quote |
| WNT7A Knockout A-549 Cell Line | EDJ-KQ63247 | Human | 7476 | Details Get a Quote |
| WNT7A Knockout HCT 116 Cell Line | EDJ-KQ71711 | Human | 7476 | Details Get a Quote |
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