TGF beta receptor 2

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.{{cite journal | vauthors = Šimčíková D, Heneberg P | title = Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases | journal = Scientific Reports | volume = 9 | issue = 1 | pages = 18577 | date = December 2019 | pmid = 31819097 | pmc = 6901466 | doi = 10.1038/s41598-019-54976-4| bibcode = 2019NatSR...918577S }} Alternatively spliced transcript variants encoding different isoforms have been characterized.{{cite web | title = Entrez Gene: TGFBR2 transforming growth factor, beta receptor II (70/80kDa)| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=7048}}

TGF beta receptor 2 has been shown to interact with:

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• AP2B1,{{cite journal | vauthors = Yao D, Ehrlich M, Henis YI, Leof EB | title = Transforming growth factor-beta receptors interact with AP2 by direct binding to beta2 subunit | journal = Molecular Biology of the Cell | volume = 13 | issue = 11 | pages = 4001–12 | date = Nov 2002 | pmid = 12429842 | pmc = 133610 | doi = 10.1091/mbc.02-07-0104 }}
• Cyclin B2,{{cite journal | vauthors = Liu JH, Wei S, Burnette PK, Gamero AM, Hutton M, Djeu JY | title = Functional association of TGF-beta receptor II with cyclin B | journal = Oncogene | volume = 18 | issue = 1 | pages = 269–75 | date = Jan 1999 | pmid = 9926943 | doi = 10.1038/sj.onc.1202263 | doi-access = free }}
• Endoglin,{{cite journal | vauthors = Guerrero-Esteo M, Sanchez-Elsner T, Letamendia A, Bernabeu C | title = Extracellular and cytoplasmic domains of endoglin interact with the transforming growth factor-beta receptors I and II | journal = The Journal of Biological Chemistry | volume = 277 | issue = 32 | pages = 29197–209 | date = Aug 2002 | pmid = 12015308 | doi = 10.1074/jbc.M111991200 | doi-access = free | hdl = 10261/167807 | hdl-access = free }}
• Heat shock protein 90kDa alpha (cytosolic), member A1{{cite journal | vauthors = Wrighton KH, Lin X, Feng XH | title = Critical regulation of TGFbeta signaling by Hsp90 | journal = Proceedings of the National Academy of Sciences of the United States of America | volume = 105 | issue = 27 | pages = 9244–9 | date = Jul 2008 | pmid = 18591668 | pmc = 2453700 | doi = 10.1073/pnas.0800163105 | bibcode = 2008PNAS..105.9244W | doi-access = free }}
• STRAP,{{cite journal | vauthors = Datta PK, Chytil A, Gorska AE, Moses HL | title = Identification of STRAP, a novel WD domain protein in transforming growth factor-beta signaling | journal = The Journal of Biological Chemistry | volume = 273 | issue = 52 | pages = 34671–4 | date = Dec 1998 | pmid = 9856985 | doi = 10.1074/jbc.273.52.34671| doi-access = free }}{{cite journal | vauthors = Datta PK, Moses HL | title = STRAP and Smad7 synergize in the inhibition of transforming growth factor beta signaling | journal = Molecular and Cellular Biology | volume = 20 | issue = 9 | pages = 3157–67 | date = May 2000 | pmid = 10757800 | pmc = 85610 | doi = 10.1128/mcb.20.9.3157-3167.2000}}
• TGF beta receptor 1,{{cite journal | vauthors = Kawabata M, Chytil A, Moses HL | title = Cloning of a novel type II serine/threonine kinase receptor through interaction with the type I transforming growth factor-beta receptor | journal = The Journal of Biological Chemistry | volume = 270 | issue = 10 | pages = 5625–30 | date = Mar 1995 | pmid = 7890683 | doi = 10.1074/jbc.270.10.5625| doi-access = free }}{{cite journal | vauthors = Razani B, Zhang XL, Bitzer M, von Gersdorff G, Böttinger EP, Lisanti MP | title = Caveolin-1 regulates transforming growth factor (TGF)-beta/SMAD signaling through an interaction with the TGF-beta type I receptor | journal = The Journal of Biological Chemistry | volume = 276 | issue = 9 | pages = 6727–38 | date = Mar 2001 | pmid = 11102446 | doi = 10.1074/jbc.M008340200 | doi-access = free }} and
• Transforming growth factor, beta 3.{{cite journal | vauthors = Barbara NP, Wrana JL, Letarte M | title = Endoglin is an accessory protein that interacts with the signaling receptor complex of multiple members of the transforming growth factor-beta superfamily | journal = The Journal of Biological Chemistry | volume = 274 | issue = 2 | pages = 584–94 | date = Jan 1999 | pmid = 9872992 | doi = 10.1074/jbc.274.2.584| doi-access = free }}{{cite journal | vauthors = De Crescenzo G, Pham PL, Durocher Y, O'Connor-McCourt MD | title = 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 = Journal of Molecular Biology | volume = 328 | issue = 5 | pages = 1173–83 | date = May 2003 | pmid = 12729750 | doi = 10.1016/s0022-2836(03)00360-7}}{{cite journal | vauthors = Hart PJ, Deep S, Taylor AB, Shu Z, Hinck CS, Hinck AP | title = Crystal structure of the human TbetaR2 ectodomain--TGF-beta3 complex | journal = Nature Structural Biology | volume = 9 | issue = 3 | pages = 203–8 | date = Mar 2002 | pmid = 11850637 | doi = 10.1038/nsb766 | s2cid = 13322593 }}{{cite journal | vauthors = Rotzer D, Roth M, Lutz M, Lindemann D, Sebald W, Knaus P | title = Type III TGF-beta receptor-independent signalling of TGF-beta2 via TbetaRII-B, an alternatively spliced TGF-beta type II receptor | journal = The EMBO Journal | volume = 20 | issue = 3 | pages = 480–90 | date = Feb 2001 | pmid = 11157754 | pmc = 133482 | doi = 10.1093/emboj/20.3.480 }}

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{{Infobox protein family

| Symbol = ecTbetaR2

| Name = Transforming growth factor beta receptor 2 ectodomain

| image = PDB 1m9z EBI.jpg

| width =

| caption = crystal structure of human tgf-beta type ii receptor ligand binding domain

| Pfam = PF08917

| Pfam_clan =

| InterPro = IPR015013

| SMART =

| PROSITE =

| MEROPS =

| SCOP =

| TCDB =

| OPM family =

| OPM protein =

| CAZy =

| CDD =

}}

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).

• TGF beta receptors

{{Reflist}}

• [https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=taa GeneReviews/NIH/NCBI/UW entry on Thoracic Aortic Aneurysms and Aortic Dissections]

{{PDB Gallery|geneid=7048}}

{{Cytokine receptors}}

{{Growth factor receptors}}

{{TGFβ receptor superfamily modulators}}

{{Tumor suppressor genes}}

{{InterPro content|IPR015013}}

Category:TGF beta receptors

Category:Tumor suppressor genes