Gene
tgfb1b
- ID
- ZDB-GENE-091028-1
- Name
- transforming growth factor, beta 1b
- Symbol
- tgfb1b Nomenclature History
- Previous Names
- None
- Type
- protein_coding_gene
- Location
- Chr: 21 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. Predicted to localize to extracellular space. Human ortholog(s) of this gene implicated in several diseases, including Behcet's disease; aphthous stomatitis; artery disease (multiple); bone disease (multiple); and lung disease (multiple). Is expressed in cardiovascular system; head; hematopoietic system; and pharynx. Orthologous to human TGFB1 (transforming growth factor beta 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 18 figures from 15 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 5 figures from Zhang et al., 2017
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Camurati-Engelmann disease | Alliance | Camurati-Engelmann disease | 131300 |
| cystic fibrosis | Alliance | {Cystic fibrosis lung disease, modifier of} | 219700 |
| Inflammatory bowel disease, immunodeficiency, and encephalopathy | 618213 |
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 | 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, conserved site | Transforming growth factor-beta, C-terminal | Transforming growth factor-beta-related |
|---|---|---|---|---|---|---|---|
|
UniProtKB:E9QHW0
|
379 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
tgfb1b-201
(1)
|
Ensembl | 1,403 nt |
Interactions and Pathways
No data available
Plasmids
No data available