Gene
tgfb3
- ID
- ZDB-GENE-030723-4
- Name
- transforming growth factor, beta 3
- Symbol
- tgfb3 Nomenclature History
- Previous Names
-
- tgf beta 3 (1)
- wu:fc78g09
- zgc:92058
- Type
- protein_coding_gene
- Location
- Chr: 17 Mapping Details/Browsers
- Description
- Predicted to have cytokine activity; type II transforming growth factor beta receptor binding activity; and type III transforming growth factor beta receptor binding activity. Involved in hematopoietic stem cell differentiation; regulation of cartilage development; and regulation of ossification. Predicted to localize to extracellular space. Human ortholog(s) of this gene implicated in Loeys-Dietz syndrome 5; arrhythmogenic right ventricular cardiomyopathy; and arrhythmogenic right ventricular dysplasia 1. Is expressed in several structures, including cardiovascular system; fin; head; immature eye; and nervous system. Orthologous to human TGFB3 (transforming growth factor beta 3).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 47 figures from 28 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:7150374 (11 images)
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| arrhythmogenic right ventricular dysplasia 1 | Alliance | Arrhythmogenic right ventricular dysplasia 1 | 107970 |
| Loeys-Dietz syndrome 5 | Alliance | Loeys-Dietz syndrome 5 | 615582 |
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 |
| Family | IPR015618 | Transforming growth factor beta-3 |
| Family | IPR016319 | Transforming growth factor-beta |
| Homologous_superfamily | IPR029034 | Cystine-knot cytokine |
Domain Details Per Protein
| Protein | Length | Cystine-knot cytokine | TGF-beta, propeptide | Transforming growth factor-beta | Transforming growth factor beta-3 | Transforming growth factor beta, conserved site | Transforming growth factor-beta, C-terminal | Transforming growth factor-beta-related |
|---|---|---|---|---|---|---|---|---|
|
UniProtKB:Q66I23
|
410 |
Interactions and Pathways
No data available
Plasmids
No data available