Gene

TGFBR2

Species
Homo sapiens
Symbol
TGFBR2
Name
transforming growth factor beta receptor 2
Synonyms
  • AAT3
  • FAA3
Biotype
protein coding gene
Automated Description
Enables several functions, including transforming growth factor beta binding activity; transforming growth factor beta receptor activity, type II; and transforming growth factor beta receptor binding activity. Involved in several processes, including circulatory system development; positive regulation of CD4-positive, alpha-beta T cell proliferation; and positive regulation of SMAD protein signal transduction. Located in caveola; external side of plasma membrane; and extracellular space. Part of transforming growth factor beta ligand-receptor complex. Implicated in several diseases, including Loeys-Dietz syndrome 2; Lynch syndrome (multiple); Marfan syndrome; gastrointestinal system cancer (multiple); and mismatch repair cancer syndrome. Biomarker of arteriosclerosis; pancreatic cancer; pancreatic ductal carcinoma; and vasculogenic impotence.
RGD Description
The protein encoded by this gene is a transmembrane protein that has a protein kinase domain, forms a heterodimeric complex with TGF-beta receptor type-1, and binds TGF-beta. This receptor/ligand complex phosphorylates proteins, which then enter the nucleus and regulate the transcription of genes related to cell proliferation, cell cycle arrest, wound healing, immunosuppression, and tumorigenesis. Mutations in this gene have been associated with Marfan Syndrome, Loeys-Deitz Aortic Aneurysm Syndrome, and the development of various types of tumors. Alternatively spliced transcript variants encoding different isoforms have been characterized. [provided by RefSeq, Aug 2017]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR23255
Links to orthology data in JBrowse by filter level: Stringent,  Moderate,  No filter,  Best and Best Reverse

Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
None
Other Sources

Disease Associations

Cases where the expected disease association was NOT found
Cell color indicative of annotation volume

Transgenic Alleles

Models

Sequence Feature Viewer

Genome location
Assembly version
GRCh38
Viewer Help
30.61M30.62M30.63M30.64M30.65M30.66M30.67M30.68M30.69M

Sequence Details

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Expression

Primary Sources
None
Other Sources
Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

Molecular Interactions

Genetic Interactions