GDF10 (Growth Differentiation Factor 10)
A member of the TGF-beta superfamily involved in skeletal development and neurogenesis
Gene Information Card
| Symbol | GDF10 |
|---|---|
| Full Name | Growth Differentiation Factor 10 |
| Gene Type | protein-coding |
| Chromosomal Location | 10q11.22 |
| NCBI Gene ID | 2662 ncbi.nlm.nih.gov/gene/2662 |
| Ensembl ID | ENSG00000120071 |
| UniProt ID | P55107 |
| OMIM ID | 601361 |
| HGNC ID | 4216 |
| Aliases | BMP-3b, BMP3B |
Description
GDF10 (Growth Differentiation Factor 10) encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. It is closely related to bone morphogenetic protein 3 (BMP3) and is also known as BMP-3b. GDF10 plays a role in skeletal development, particularly in the regulation of bone and cartilage formation, and has been implicated in neurogenesis and axonal growth after injury. The protein binds to TGF-beta receptors and activates SMAD signaling pathways.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Osteoarthritis | Altered GDF10 expression may disrupt cartilage homeostasis and contribute to joint degeneration. | NCBI Gene, PubMed |
| Cerebral ischemia | GDF10 is upregulated in peri-infarct cortex and promotes axonal sprouting and functional recovery after stroke. | PubMed, UniProt |
| Bone density disorders | Variants in GDF10 may influence bone mineral density and fracture risk. | OMIM, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone | 0.8 | Low |
| Brain | 2.5 | Medium |
| Cartilage | 1.2 | Low |
| Heart | 0.3 | Not detected |
| Liver | 0.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 1.8 | Neuronal model |
| MG-63 (osteosarcoma) | 0.9 | Bone-derived |
| HEK293 (embryonic kidney) | 0.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | <0.01% | Likely loss of start codon; functional impact unknown |
| c.104C>T (p.Pro35Leu) | missense | <0.01% | Rare variant; no disease association reported |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations have been characterized in GDF10.
Gain of Function (GOF)
No gain-of-function mutations have been reported.
Dominant Negative (DN)
No dominant-negative mutations have been described.
View complete mutation data：
Gene Ontology (GO)
Pathways
• TGF-beta signaling pathway (KEGG: hsa04350)
• BMP signaling pathway (Reactome: R-HSA-201451)
Protein Summary
GDF10 is a secreted protein of 478 amino acids (precursor) that undergoes proteolytic processing to generate a mature, disulfide-linked homodimer. It belongs to the BMP subfamily and acts as a ligand for type I and type II TGF-beta receptors. GDF10 is involved in bone and cartilage development, and emerging evidence supports its role in promoting axonal regeneration after central nervous system injury. Expression is highest in brain and skeletal tissues.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GDF10 Knockout HEK293 Cell Line | EDJ-KQ4696 | Human | 2662 | Details Get a Quote |
| GDF10 Knockout HeLa Cell Line | EDJ-KQ53326 | Human | 2662 | Details Get a Quote |
| GDF10 Knockout A-549 Cell Line | EDJ-KQ61809 | Human | 2662 | Details Get a Quote |
| GDF10 Knockout HCT 116 Cell Line | EDJ-KQ70295 | Human | 2662 | Details Get a Quote |
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