WNT10A
Wingless-Type MMTV Integration Site Family, Member 10A
Gene Information Card
| Symbol | WNT10A |
|---|---|
| Full Name | Wingless-Type MMTV Integration Site Family, Member 10A |
| Gene Type | Protein-coding |
| Chromosomal Location | 2q35 |
| NCBI Gene ID | 80326 ncbi.nlm.nih.gov/gene/80326 |
| Ensembl ID | ENSG00000135925 |
| UniProt ID | Q9GZT5 |
| OMIM ID | 606268 |
| HGNC ID | 13829 |
| Aliases | WNT10A, OODD, SSPS, STHAG4 |
Description
WNT10A encodes a member of the WNT gene family of secreted signaling proteins involved in developmental processes, including cell fate determination, proliferation, and differentiation. Mutations in WNT10A are associated with autosomal recessive disorders such as Odonto-Onycho-Dermal Dysplasia (OODD), Schöpf-Schulz-Passarge syndrome (SSPS), and selective tooth agenesis (STHAG4). The protein activates canonical WNT/β-catenin signaling and plays a critical role in ectodermal appendage development.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Odonto-Onycho-Dermal Dysplasia (OODD) | Loss-of-function mutations impair WNT signaling in ectodermal tissues, leading to tooth, nail, and skin abnormalities. | ClinVar, OMIM |
| Schöpf-Schulz-Passarge Syndrome (SSPS) | Biallelic WNT10A mutations disrupt WNT signaling, causing palmoplantar keratoderma, eyelid cysts, and hypodontia. | ClinVar, OMIM |
| Tooth Agenesis, Selective, 4 (STHAG4) | Heterozygous or homozygous WNT10A variants reduce WNT signaling in dental mesenchyme, leading to congenital absence of teeth. | ClinVar, OMIM |
| Ectodermal Dysplasia 1, Hypohidrotic (HED) | Rare WNT10A mutations contribute to hypohidrotic ectodermal dysplasia phenotype with sparse hair and reduced sweating. | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | 15.2 | Medium |
| Oral Mucosa | 12.8 | Medium |
| Salivary Gland | 8.5 | Low |
| Esophagus | 6.3 | Low |
| Kidney | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HaCaT (keratinocyte) | 18.5 | High expression |
| SCC-25 (oral squamous) | 14.2 | Medium expression |
| HEK293 | 2.3 | Low expression |
| MCF7 | 1.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.682T>A (p.Cys228Ser) | Missense | Common in OODD | Loss of function; disrupts disulfide bond and secretion |
| c.511C>T (p.Arg171Cys) | Missense | Frequent in tooth agenesis | Impaired WNT signaling activity |
| c.637G>A (p.Gly213Arg) | Missense | Rare | Reduced β-catenin activation |
| c.1A>G (p.Met1Val) | Start loss | Rare | Complete loss of protein translation |
Mutation functional classification
Loss of Function (LOF)
Most WNT10A mutations are loss-of-function, reducing or abolishing WNT/β-catenin signaling, leading to ectodermal defects.
Gain of Function (GOF)
No gain-of-function mutations reported in WNT10A.
Dominant Negative (DN)
Some missense variants (e.g., p.Cys228Ser) may exert dominant-negative effects by interfering with wild-type WNT10A secretion.
View complete mutation data：
Gene Ontology (GO)
| • Wnt signaling pathway (GO:0016055) | • extracellular space (GO:0005615) |
| • cell-cell signaling (GO:0007267) | • canonical Wnt signaling pathway (GO:0060070) |
| • odontogenesis (GO:0042476) |
Pathways
• Wnt/β-catenin signaling pathway (KEGG: hsa04310)
• Hippo signaling pathway (KEGG: hsa04390)
• Signaling pathways regulating pluripotency of stem cells (KEGG: hsa04550)
Protein Summary
WNT10A is a 417-amino acid secreted glycoprotein containing a conserved WNT domain with 23 cysteine residues. It binds to Frizzled receptors and LRP5/6 co-receptors to activate the canonical WNT/β-catenin pathway. The protein is essential for development of teeth, hair follicles, nails, and sweat glands. Mutations lead to impaired secretion or signaling, resulting in ectodermal dysplasias and tooth agenesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| WNT10A Knockout HEK293 Cell Line | EDJ-KQ347 | Human | 80326 | Details Get a Quote |
| WNT10A Knockout HeLa Cell Line | EDJ-KQ57327 | Human | 80326 | Details Get a Quote |
| WNT10A Knockout A-549 Cell Line | EDJ-KQ65833 | Human | 80326 | Details Get a Quote |
| WNT10A Knockout HCT 116 Cell Line | EDJ-KQ74258 | Human | 80326 | Details Get a Quote |
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