| Entrez Gene ID |
7048 |
| Official Gene Symbol |
TGFBR2 (GeneCards) |
| Full name |
transforming growth factor beta receptor 2 |
| Location |
3p24.1 |
| Other ids |
Vega : OTTHUMG00000130569
MIM : 190182
HGNC : HGNC:11773
Ensembl : ENSG00000163513
|
| Other names |
AAT3,
FAA3,
LDS2,
MFS2,
RIIC,
LDS1B,
LDS2B,
TAAD2,
TBRII,
TBR-ii,
TGFR-2,
TGFbeta-RII
|
| Summary |
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] |