Gene
gdf6b
- ID
- ZDB-GENE-980526-442
- Name
- growth differentiation factor 6b
- Symbol
- gdf6b Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 19 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 Leber congenital amaurosis 17; bone disease (multiple); cleft lip; cleft palate; and isolated microphthalmia 4. Orthologous to human GDF6 (growth differentiation factor 6).
- Genome Resources
- Note
- None
- Comparative Information
- All Expression Data
- 2 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
isolated microphthalmia 4 | Alliance | Microphthalmia, isolated 4 | 613094 |
Klippel-Feil syndrome 1 | Alliance | Klippel-Feil syndrome 1, autosomal dominant | 118100 |
Leber congenital amaurosis 17 | Alliance | Leber congenital amaurosis 17 | 615360 |
multiple synostoses syndrome 4 | Alliance | Multiple synostoses syndrome 4 | 617898 |
Microphthalmia with coloboma 6, digenic | 613703 |
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:A8E7N9
|
412 |
Interactions and Pathways
No data available
Plasmids
No data available