TGFBR2
Transforming growth factor, beta receptor II (70/80kDa) | |||||||||||||
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File:PBB Protein TGFBR2 image.jpg PDB rendering based on 1ktz. | |||||||||||||
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Identifiers | |||||||||||||
Symbols | TGFBR2 ; AAT3; FAA3; HNPCC6; MFS2; RIIC; TAAD2; TGFR-2; TGFbeta-RII | ||||||||||||
External IDs | Template:OMIM5 Template:MGI HomoloGene: 2435 | ||||||||||||
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RNA expression pattern | |||||||||||||
File:PBB GE TGFBR2 208944 at tn.png | |||||||||||||
File:PBB GE TGFBR2 207334 s at tn.png | |||||||||||||
More reference expression data | |||||||||||||
Orthologs | |||||||||||||
Template:GNF Ortholog box | |||||||||||||
Species | Human | Mouse | |||||||||||
Entrez | n/a | n/a | |||||||||||
Ensembl | n/a | n/a | |||||||||||
UniProt | n/a | n/a | |||||||||||
RefSeq (mRNA) | n/a | n/a | |||||||||||
RefSeq (protein) | n/a | n/a | |||||||||||
Location (UCSC) | n/a | n/a | |||||||||||
PubMed search | n/a | n/a |
Transforming growth factor, beta receptor II (70/80kDa), also known as TGFBR2, is a human gene.
This gene encodes a member of the Ser/Thr protein kinase family and the TGFB receptor subfamily. The encoded protein is a transmembrane protein that has a protein kinase domain, forms a heterodimeric complex with another receptor protein, and binds TGF-beta. This receptor/ligand complex phosphorylates proteins, which then enter the nucleus and regulate the transcription of a subset of genes related to cell proliferation. 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.[1]
See also
References
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