Gene
tgfbr2a
- ID
- ZDB-GENE-120404-1
- Name
- transforming growth factor beta receptor 2a
- Symbol
- tgfbr2a Nomenclature History
- Previous Names
-
- tgfbr2l
- Type
- protein_coding_gene
- Location
- Chr: 19 Mapping Details/Browsers
- Description
- Predicted to enable ATP binding activity; metal ion binding activity; and transforming growth factor beta receptor activity, type II. Predicted to act upstream of or within several processes, including apoptotic process; protein phosphorylation; and transmembrane receptor protein serine/threonine kinase signaling pathway. Predicted to be located in membrane raft and plasma membrane. Is expressed in bulbus arteriosus and pharyngeal arch. 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
- 4 figures from 4 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- 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 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:E7F998
|
659 | ||||||||
|
UniProtKB:A0A8M3AS98
|
659 |
- Genome Browsers
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
tgfbr2-201
(1)
|
Ensembl | 1,938 nt |
Interactions and Pathways
No data available
Plasmids
No data available
- Comparative Orthology
- Alliance