Gene
tgfbr2b
- ID
- ZDB-GENE-980526-375
- Name
- transforming growth factor beta receptor 2b
- Symbol
- tgfbr2b Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 16 Mapping Details/Browsers
- Description
- Predicted to enable several functions, including activin binding activity; transforming growth factor beta binding activity; and transmembrane receptor protein serine/threonine kinase activity. Acts upstream of or within hematopoietic stem cell differentiation. Predicted to be located in membrane raft. Predicted to be part of receptor complex. Predicted to be active in plasma membrane. Is expressed in several structures, including cardiovascular system; digestive system; head; mesoderm; and trigeminal ganglion. Human ortholog(s) of this gene implicated in several diseases, including Loeys-Dietz syndrome 2; Lynch syndrome (multiple); Marfan syndrome; gastrointestinal system cancer (multiple); and mismatch repair cancer syndrome. Orthologous to human TGFBR2 (transforming growth factor beta receptor 2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 17 figures from 11 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- cb537 (21 images)
Wild Type Expression Summary
- All Phenotype Data
- 3 figures from Monteiro et al., 2016
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| esophageal cancer | Alliance | Esophageal cancer, somatic | 133239 |
| hereditary nonpolyposis colorectal cancer type 6 | Alliance | Colorectal cancer, hereditary nonpolyposis, type 6 | 614331 |
| Loeys-Dietz syndrome 2 | Alliance | Loeys-Dietz syndrome 2 | 610168 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Active_site | IPR008271 | Serine/threonine-protein kinase, active site |
| Binding_site | IPR017441 | Protein kinase, ATP binding site |
| Domain | IPR000719 | Protein kinase domain |
| Domain | IPR001245 | Serine-threonine/tyrosine-protein kinase, catalytic domain |
| Domain | IPR015013 | Transforming growth factor beta receptor 2 ectodomain |
| Family | IPR000333 | Ser/Thr protein kinase, TGFB receptor |
| Family | IPR017194 | Transforming growth factor-beta receptor, type II |
| Homologous_superfamily | IPR011009 | Protein kinase-like domain superfamily |
| Homologous_superfamily | IPR045860 | Snake toxin-like superfamily |
Domain Details Per Protein
| Protein | Length | Protein kinase, ATP binding site | Protein kinase domain | Protein kinase-like domain superfamily | Serine/threonine-protein kinase, active site | Serine-threonine/tyrosine-protein kinase, catalytic domain | Ser/Thr protein kinase, TGFB receptor | Snake toxin-like superfamily | Transforming growth factor beta receptor 2 ectodomain | Transforming growth factor-beta receptor, type II |
|---|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:Q58EQ1
|
556 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
tgfbr2b-201
(1)
|
Ensembl | 2,252 nt | ||
| ncRNA |
tgfbr2-002
(1)
|
Ensembl | 400 nt |
Interactions and Pathways
No data available
Plasmids
No data available