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 have ATP binding activity; metal ion binding activity; and transforming growth factor beta receptor activity, type II. Predicted to be involved in protein phosphorylation and transmembrane receptor protein serine/threonine kinase signaling pathway. Predicted to localize to integral component of membrane. Human ortholog(s) of this gene implicated in Loeys-Dietz syndrome 2; Marfan syndrome; gastrointestinal system cancer (multiple); hereditary nonpolyposis colorectal cancer type 6; and pancreatic cancer. Is expressed in pharyngeal arch. Orthologous to human TGFBR2 (transforming growth factor beta receptor 2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 3 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
Interactions and Pathways
No data available
Plasmids
No data available
- Comparative Orthology
- Alliance