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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for TGFBR2 (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID7048
Official gene symbolTGFBR2
Full nametransforming growth factor, beta receptor II (70/80kDa)
Aliases,AAT3,FAA3,LDS1B,LDS2B,MFS2,RIIC,TAAD2,TGFR-2,TGFbeta-RII,
Gene summaryThis 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. [provided by RefSeq]
LocationChromosome: 3   Locus: 3p22
Gene position30647994 - 30735634  Map Viewer
Gene orientationplus
Gene size87641 bp
Gene sequence
OMIM ID190182