Gene
gdf3
- ID
- ZDB-GENE-980526-389
- Name
- growth differentiation factor 3
- Symbol
- gdf3 Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 17 Mapping Details/Browsers
- Description
- Predicted to enable cytokine activity. Involved in regulation of epiboly involved in gastrulation with mouth forming second. Acts upstream of or within with a positive effect on nodal signaling pathway. Acts upstream of or within with a negative effect on BMP signaling pathway. Acts upstream of or within several processes, including axis specification; embryonic morphogenesis; and regulation of nodal signaling pathway involved in determination of left/right asymmetry. Part of protein-containing complex. Is expressed in several structures, including blastomere; heart primordium; mesoderm; oocyte; and tail bud. Human ortholog(s) of this gene implicated in Klippel-Feil syndrome 3; isolated microphthalmia 7; multiple types of congenital heart defects 6; and visceral heterotaxy. Orthologous to several human genes including GDF3 (growth differentiation factor 3).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 21 figures from 15 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- cb556 (19 images)
Wild Type Expression Summary
- All Phenotype Data
- 22 figures from 8 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| isolated microphthalmia 7 | Alliance | Microphthalmia, isolated 7 | 613704 |
| Klippel-Feil syndrome 3 | Alliance | Klippel-Feil syndrome 3, autosomal dominant | 613702 |
| Microphthalmia, isolated, with coloboma 6 | 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:P35621
|
355 | |||||
|
UniProtKB:A0A8M9PNK2
|
322 |
Interactions and Pathways
No data available
Plasmids
No data available