WNT10B
Wnt Family Member 10B: A Key Regulator of Development and Adipogenesis
Gene Information Card
| Symbol | WNT10B |
|---|---|
| Full Name | Wnt family member 10B |
| Gene Type | protein-coding |
| Chromosomal Location | 12q13.12 |
| NCBI Gene ID | 7480 ncbi.nlm.nih.gov/gene/7480 |
| Ensembl ID | ENSG00000169884 |
| UniProt ID | O00744 |
| OMIM ID | 601906 |
| HGNC ID | 12775 |
| Aliases | WNT12, WNT-10B, SHFM6 |
Description
WNT10B (Wnt family member 10B) is a protein-coding gene that encodes a secreted signaling protein belonging to the WNT family. WNT10B plays a critical role in embryonic development, cell differentiation, and tissue homeostasis. It is particularly important for adipogenesis, bone formation, and limb development. Mutations in WNT10B are associated with split-hand/foot malformation type 6 (SHFM6) and have been implicated in obesity and bone density variations.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Split-hand/foot malformation type 6 (SHFM6) | Loss-of-function mutations in WNT10B disrupt WNT signaling during limb development, leading to ectrodactyly. | OMIM #225300; PMID: 21204203 |
| Obesity | WNT10B inhibits adipogenesis; reduced expression or function may promote adipose tissue expansion. | PMID: 16959974; PMID: 17957028 |
| Osteoporosis | WNT10B promotes osteoblastogenesis; decreased signaling may reduce bone mass. | PMID: 15668399; PMID: 19057647 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adipose tissue | 12.5 | Medium |
| Bone marrow | 8.3 | Low |
| Skin | 6.1 | Low |
| Placenta | 4.7 | Low |
| Skeletal muscle | 3.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| hMSC (mesenchymal stem cells) | 15.2 | High expression; role in adipogenesis |
| HEK 293 | 2.1 | Low expression |
| HeLa | 1.5 | Low expression |
| MCF7 | 0.8 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.637C>T (p.Arg213*) | Nonsense | Rare | Loss of function; associated with SHFM6 |
| c.404C>T (p.Pro135Leu) | Missense | Rare | Likely loss of function; reported in SHFM6 |
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of function; associated with SHFM6 |
Mutation functional classification
Loss of Function (LOF)
Nonsense, frameshift, and start-loss mutations that truncate or prevent protein synthesis, leading to reduced WNT signaling.
Gain of Function (GOF)
Not reported for WNT10B.
Dominant Negative (DN)
Not reported for WNT10B.
View complete mutation data：
Gene Ontology (GO)
| • Wnt signaling pathway (GO:0016055) | • Cell differentiation (GO:0030154) |
| • Adipogenesis (GO:0045444) | • Bone development (GO:0060348) |
| • Limb development (GO:0060173) |
Pathways
• Wnt signaling pathway (KEGG: hsa04310)
• Adipogenesis (Reactome: R-HSA-381340)
• Osteoblast differentiation (Reactome: R-HSA-2173791)
Protein Summary
WNT10B is a 389-amino acid secreted glycoprotein that binds to Frizzled receptors and LRP5/6 co-receptors to activate canonical WNT/β-catenin signaling. It plays a key role in inhibiting adipogenesis and promoting osteoblastogenesis. The protein contains a signal peptide for secretion and a conserved WNT domain. Mutations causing loss of function lead to limb malformations and may contribute to obesity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| WNT10B Knockout HEK293 Cell Line | EDJ-KQ348 | Human | 7480 | Details Get a Quote |
| WNT10B Knockout A-549 Cell Line | EDJ-KQ18529 | Human | 7480 | Details Get a Quote |
| WNT10B Knockout HCT 116 Cell Line | EDJ-KQ18530 | Human | 7480 | Details Get a Quote |
| WNT10B Knockout HeLa Cell Line | EDJ-KQ18531 | Human | 7480 | Details Get a Quote |
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