Gene
ltbp3
- ID
- ZDB-GENE-060526-130
- Name
- latent transforming growth factor beta binding protein 3
- Symbol
- ltbp3 Nomenclature History
- Previous Names
-
- si:ch211-247o20.1
- Type
- protein_coding_gene
- Location
- Chr: 5 Mapping Details/Browsers
- Description
- Involved in transforming growth factor beta receptor signaling pathway. Acts upstream of or within several processes, including heart morphogenesis; regulation of smooth muscle tissue development; and smooth muscle cell proliferation. Is expressed in several structures, including digestive system; heart primordium; integument; notochord; and pericardial region. Human ortholog(s) of this gene implicated in brachyolmia-amelogenesis imperfecta syndrome and geleophysic dysplasia 3. Orthologous to human LTBP3 (latent transforming growth factor beta binding protein 3).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 22 figures from 14 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| brachyolmia-amelogenesis imperfecta syndrome | Alliance | Dental anomalies and short stature | 601216 |
| geleophysic dysplasia 3 | Alliance | Geleophysic dysplasia 3 | 617809 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR013032 | EGF-like, conserved site |
| Conserved_site | IPR018097 | EGF-like calcium-binding, conserved site |
| Domain | IPR000742 | EGF-like domain |
| Domain | IPR001881 | EGF-like calcium-binding domain |
| Domain | IPR017878 | TB domain |
| Domain | IPR026823 | Complement Clr-like EGF domain |
| Domain | IPR049883 | NOTCH1 EGF-like calcium-binding domain |
| Family | IPR050751 | Extracellular matrix structural protein |
| Family | IPR052080 | von Willebrand factor C/EGF & Fibrillin |
| Homologous_superfamily | IPR009030 | Growth factor receptor cysteine-rich domain superfamily |
| Homologous_superfamily | IPR036773 | TGF-beta binding (TB) domain superfamily |
| PTM | IPR000152 | EGF-type aspartate/asparagine hydroxylation site |
Domain Details Per Protein
| Protein | Length | Complement Clr-like EGF domain | EGF-like calcium-binding, conserved site | EGF-like calcium-binding domain | EGF-like, conserved site | EGF-like domain | EGF-type aspartate/asparagine hydroxylation site | Extracellular matrix structural protein | Growth factor receptor cysteine-rich domain superfamily | NOTCH1 EGF-like calcium-binding domain | TB domain | TGF-beta binding (TB) domain superfamily | von Willebrand factor C/EGF & Fibrillin |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:A0A8M2BCL4
|
1205 | ||||||||||||
|
UniProtKB:A0A8M2BCQ0
|
1248 | ||||||||||||
|
UniProtKB:F1QFX6
|
1258 |
- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available