Gene Detail

Contact

Missing content? – Request curation!

Request curation for specific Genes, variants, or PubMed publications.

Have questions, comments or suggestions? - Let us know!

Email us at : ckbsupport@jax.org

Gene Symbol TGFBR2
Synonyms AAT3 | FAA3 | LDS1B | LDS2 | LDS2B | MFS2 | RIIC | TAAD2 | TBR-ii | TBRII | TGFbeta-RII | TGFR-2
Gene Description TGFBR2, transforming growth factor beta receptor 2, is a membrane bound serine/threonine protein kinase that heterodimerizes with Tgfbr1 to mediate Tgf beta signaling (PMID: 15270668). Mutations and abnormal expression of Tgfbr2 have been reported in colon (PMID: 15256431, PMID: 31756952) and pancreatic cancers (PMID: 25060520, PMID: 31730895) and TGFBR2 promoter hypermethylation has been reported in esophageal squamous cell carcinoma (PMID: 32046777).


Additional content available in CKB BOOST