TGF beta receptor 2 explained

Transforming growth factor, beta receptor II (70/80kDa) is a TGF beta receptor. TGFBR2 is its human gene.

It is a tumor suppressor gene.[1]

Function

This gene encodes a member of the serine/threonine 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, Osler–Weber–Rendu syndrome, and the development of various types of tumors. At least 73 disease-causing mutations in this gene have been discovered.[2] Alternatively spliced transcript variants encoding different isoforms have been characterized.[3]

Interactions

TGF beta receptor 2 has been shown to interact with:

Domain architecture

Symbol:ecTbetaR2
Transforming growth factor beta receptor 2 ectodomain
Pfam:PF08917
Interpro:IPR015013

TGF beta receptor 2 consists of a C-terminal protein kinase domain and an N-terminal ectodomain. The ectodomain consists of a compact fold containing nine beta-strands and a single helix stabilised by a network of six intra strand disulphide bonds. The folding topology includes a central five-stranded antiparallel beta-sheet, eight-residues long at its centre, covered by a second layer consisting of two segments of two-stranded antiparallel beta-sheets (beta1-beta4, beta3-beta9).[14]

See also

External links

Notes and References

  1. Web site: TGFBR2 - transforming growth factor, beta receptor II (70/80kDa) - Genetics Home Reference . 2008-09-07 . 2011-08-10 . https://web.archive.org/web/20110810091540/http://ghr.nlm.nih.gov/gene=TGFBR2 . dead .
  2. Šimčíková D, Heneberg P . Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases . Scientific Reports . 9 . 1 . 18577 . December 2019 . 31819097 . 6901466 . 10.1038/s41598-019-54976-4. 2019NatSR...918577S .
  3. Web site: Entrez Gene: TGFBR2 transforming growth factor, beta receptor II (70/80kDa).
  4. Yao D, Ehrlich M, Henis YI, Leof EB . Transforming growth factor-beta receptors interact with AP2 by direct binding to beta2 subunit . Molecular Biology of the Cell . 13 . 11 . 4001–12 . Nov 2002 . 12429842 . 133610 . 10.1091/mbc.02-07-0104 .
  5. Liu JH, Wei S, Burnette PK, Gamero AM, Hutton M, Djeu JY . Functional association of TGF-beta receptor II with cyclin B . Oncogene . 18 . 1 . 269–75 . Jan 1999 . 9926943 . 10.1038/sj.onc.1202263 . free .
  6. Guerrero-Esteo M, Sanchez-Elsner T, Letamendia A, Bernabeu C . Extracellular and cytoplasmic domains of endoglin interact with the transforming growth factor-beta receptors I and II . The Journal of Biological Chemistry . 277 . 32 . 29197–209 . Aug 2002 . 12015308 . 10.1074/jbc.M111991200 . free . 10261/167807 . free .
  7. Wrighton KH, Lin X, Feng XH . Critical regulation of TGFbeta signaling by Hsp90 . Proceedings of the National Academy of Sciences of the United States of America . 105 . 27 . 9244–9 . Jul 2008 . 18591668 . 2453700 . 10.1073/pnas.0800163105 . 2008PNAS..105.9244W . free .
  8. Datta PK, Chytil A, Gorska AE, Moses HL . Identification of STRAP, a novel WD domain protein in transforming growth factor-beta signaling . The Journal of Biological Chemistry . 273 . 52 . 34671–4 . Dec 1998 . 9856985 . 10.1074/jbc.273.52.34671. free .
  9. Datta PK, Moses HL . STRAP and Smad7 synergize in the inhibition of transforming growth factor beta signaling . Molecular and Cellular Biology . 20 . 9 . 3157–67 . May 2000 . 10757800 . 85610 . 10.1128/mcb.20.9.3157-3167.2000.
  10. Kawabata M, Chytil A, Moses HL . Cloning of a novel type II serine/threonine kinase receptor through interaction with the type I transforming growth factor-beta receptor . The Journal of Biological Chemistry . 270 . 10 . 5625–30 . Mar 1995 . 7890683 . 10.1074/jbc.270.10.5625. free .
  11. Razani B, Zhang XL, Bitzer M, von Gersdorff G, Böttinger EP, Lisanti MP . Caveolin-1 regulates transforming growth factor (TGF)-beta/SMAD signaling through an interaction with the TGF-beta type I receptor . The Journal of Biological Chemistry . 276 . 9 . 6727–38 . Mar 2001 . 11102446 . 10.1074/jbc.M008340200 . free .
  12. Barbara NP, Wrana JL, Letarte M . Endoglin is an accessory protein that interacts with the signaling receptor complex of multiple members of the transforming growth factor-beta superfamily . The Journal of Biological Chemistry . 274 . 2 . 584–94 . Jan 1999 . 9872992 . 10.1074/jbc.274.2.584. free .
  13. De Crescenzo G, Pham PL, Durocher Y, O'Connor-McCourt MD . Transforming growth factor-beta (TGF-beta) binding to the extracellular domain of the type II TGF-beta receptor: receptor capture on a biosensor surface using a new coiled-coil capture system demonstrates that avidity contributes significantly to high affinity binding . Journal of Molecular Biology . 328 . 5 . 1173–83 . May 2003 . 12729750 . 10.1016/s0022-2836(03)00360-7.
  14. Hart PJ, Deep S, Taylor AB, Shu Z, Hinck CS, Hinck AP . Crystal structure of the human TbetaR2 ectodomain--TGF-beta3 complex . Nature Structural Biology . 9 . 3 . 203–8 . Mar 2002 . 11850637 . 10.1038/nsb766 . 13322593 .
  15. Rotzer D, Roth M, Lutz M, Lindemann D, Sebald W, Knaus P . Type III TGF-beta receptor-independent signalling of TGF-beta2 via TbetaRII-B, an alternatively spliced TGF-beta type II receptor . The EMBO Journal . 20 . 3 . 480–90 . Feb 2001 . 11157754 . 133482 . 10.1093/emboj/20.3.480 .

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