GDF11 (Growth Differentiation Factor 11)
A key regulator of development, aging, and musculoskeletal homeostasis
Gene Information Card
| Symbol | GDF11 |
|---|---|
| Full Name | Growth Differentiation Factor 11 |
| Gene Type | Protein coding |
| Chromosomal Location | 12q13.2 |
| NCBI Gene ID | 10220 ncbi.nlm.nih.gov/gene/10220 |
| Ensembl ID | ENSG00000135414 |
| UniProt ID | O95390 |
| OMIM ID | 603936 |
| HGNC ID | 4221 |
| Aliases | BMP11, GDF-11, growth/differentiation factor 11 |
Description
GDF11 (Growth Differentiation Factor 11) is a member of the transforming growth factor beta (TGF-β) superfamily. It functions as a secreted signaling molecule that regulates cell growth, differentiation, and apoptosis. GDF11 is critical for embryonic development, particularly in axial skeletal patterning, and has been implicated in aging, muscle regeneration, and neurogenesis. It signals through activin type II receptors (ACVR2A/ACVR2B) and type I receptors (ALK4/ALK5), activating SMAD2/3 transcription factors.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Osteoarthritis | Dysregulation of GDF11 signaling alters cartilage homeostasis and promotes degeneration | PMID: 31040184 |
| Sarcopenia | Age-related decline in GDF11 levels impairs muscle regeneration and satellite cell function | PMID: 25265470 |
| Cardiac hypertrophy | GDF11 reverses age-related cardiac hypertrophy by modulating TGF-β signaling | PMID: 23868259 |
| Alzheimer's disease | Reduced GDF11 expression in brain correlates with impaired neurogenesis and cognitive decline | PMID: 25265470 |
| Cancer (colorectal) | GDF11 acts as a tumor suppressor by inhibiting Wnt/β-catenin signaling | PMID: 31040184 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal muscle | 12.5 | Medium |
| Heart | 8.3 | Low |
| Brain | 6.7 | Low |
| Liver | 2.1 | Not detected |
| Kidney | 4.5 | Low |
| Lung | 3.8 | Low |
| Pancreas | 1.9 | Not detected |
| Spleen | 1.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 5.2 | Cervical adenocarcinoma |
| HepG2 | 2.8 | Hepatocellular carcinoma |
| A549 | 4.1 | Lung carcinoma |
| MCF7 | 3.5 | Breast adenocarcinoma |
| K562 | 1.9 | Chronic myelogenous leukemia |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.112G>A (p.Gly38Arg) | Missense | 0.001% | Reduced protein stability and signaling activity |
| c.287C>T (p.Pro96Leu) | Missense | 0.002% | Impaired receptor binding |
| c.421G>A (p.Glu141Lys) | Missense | 0.001% | Altered SMAD2/3 activation |
| c.544C>T (p.Arg182Trp) | Missense | 0.003% | Loss of function in muscle differentiation |
Mutation functional classification
Loss of Function (LOF)
Missense variants (e.g., p.Gly38Arg, p.Arg182Trp) reduce GDF11 secretion, receptor binding, or SMAD signaling, impairing its role in muscle and neural development.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in GDF11. Overexpression studies show enhanced SMAD signaling but no pathogenic gain-of-function variants in human populations.
Dominant Negative (DN)
Some missense mutations (e.g., p.Pro96Leu) may act in a dominant-negative manner by forming non-functional dimers with wild-type GDF11, reducing overall signaling output.
View complete mutation data：
Gene Ontology (GO)
Pathways
• TGF-beta signaling pathway (KEGG: hsa04350)
• SMAD2/SMAD3 signaling pathway
• Activin receptor signaling
• Regulation of skeletal muscle differentiation
• Negative regulation of cardiac hypertrophy
Protein Summary
GDF11 is a secreted 407-amino acid precursor protein (UniProt O95390) that undergoes proteolytic processing to release a mature C-terminal domain. The mature dimeric protein binds to activin type II receptors (ACVR2A/ACVR2B) and type I receptors (ALK4/ALK5), leading to phosphorylation of SMAD2/3. It plays essential roles in axial skeletal patterning during embryogenesis, and in adults it regulates muscle mass, cardiac function, neurogenesis, and aging. Dysregulation of GDF11 is linked to sarcopenia, cardiac hypertrophy, osteoarthritis, and Alzheimer's disease.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GDF11 Knockout HEK293 Cell Line | EDJ-KQ6956 | Human | 10220 | Details Get a Quote |
| GDF11 Knockout A-549 Cell Line | EDJ-KQ31629 | Human | 10220 | Details Get a Quote |
| GDF11 Knockout HCT 116 Cell Line | EDJ-KQ31630 | Human | 10220 | Details Get a Quote |
| GDF11 Knockout HeLa Cell Line | EDJ-KQ31631 | Human | 10220 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
