Gene
gdf5
- ID
- ZDB-GENE-990415-39
- Name
- growth differentiation factor 5
- Symbol
- gdf5 Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 6 Mapping Details/Browsers
- Description
- Predicted to have cytokine activity. Predicted to be involved in BMP signaling pathway; SMAD protein signal transduction; and positive regulation of pathway-restricted SMAD protein phosphorylation. Predicted to localize to extracellular space. Human ortholog(s) of this gene implicated in Parkinson's disease; bone development disease (multiple); osteoarthritis; and proximal symphalangism. Is expressed in perichondrium; pharynx; and skeletal system. Orthologous to human GDF5 (growth differentiation factor 5).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 7 figures from 7 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 4 figures from Waldmann et al., 2021
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| acromesomelic dysplasia, Grebe type | Alliance | Acromesomelic dysplasia 2A | 200700 |
| acromesomelic dysplasia, Hunter-Thompson type | Alliance | ?Acromesomelic dysplasia 2C, Hunter-Thompson type | 201250 |
| brachydactyly type A1C | Alliance | Brachydactyly, type A1, C | 615072 |
| brachydactyly type A2 | Alliance | Brachydactyly, type A2 | 112600 |
| brachydactyly type C | Alliance | Brachydactyly, type C | 113100 |
| fibular hypoplasia and complex brachydactyly | Alliance | Acromesomelic dysplasia 2B | 228900 |
| multiple synostoses syndrome 2 | Alliance | Multiple synostoses syndrome 2 | 610017 |
| proximal symphalangism 2 | Alliance | Symphalangism, proximal, 1B | 615298 |
| {Osteoarthritis-5} | 612400 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR017948 | Transforming growth factor beta, conserved site |
| Domain | IPR001111 | TGF-beta, propeptide |
| Domain | IPR001839 | Transforming growth factor-beta, C-terminal |
| Family | IPR015615 | Transforming growth factor-beta-related |
| Homologous_superfamily | IPR029034 | Cystine-knot cytokine |
Domain Details Per Protein
| Protein | Length | Cystine-knot cytokine | TGF-beta, propeptide | Transforming growth factor beta, conserved site | Transforming growth factor-beta, C-terminal | Transforming growth factor-beta-related |
|---|---|---|---|---|---|---|
|
UniProtKB:F1QK08
|
474 |
Interactions and Pathways
No data available
Plasmids
No data available