TGF-beta receptor type-2

Details

Name
TGF-beta receptor type-2
Synonyms
  • 2.7.11.30
  • TbetaR-II
  • TGF-beta receptor type II
  • TGF-beta type II receptor
  • TGFR-2
  • Transforming growth factor-beta receptor type II
Gene Name
TGFBR2
Organism
Humans
Amino acid sequence
>lcl|BSEQ0003687|TGF-beta receptor type-2
MGRGLLRGLWPLHIVLWTRIASTIPPHVQKSVNNDMIVTDNNGAVKFPQLCKFCDVRFST
CDNQKSCMSNCSITSICEKPQEVCVAVWRKNDENITLETVCHDPKLPYHDFILEDAASPK
CIMKEKKKPGETFFMCSCSSDECNDNIIFSEEYNTSNPDLLLVIFQVTGISLLPPLGVAI
SVIIIFYCYRVNRQQKLSSTWETGKTRKLMEFSEHCAIILEDDRSDISSTCANNINHNTE
LLPIELDTLVGKGRFAEVYKAKLKQNTSEQFETVAVKIFPYEEYASWKTEKDIFSDINLK
HENILQFLTAEERKTELGKQYWLITAFHAKGNLQEYLTRHVISWEDLRKLGSSLARGIAH
LHSDHTPCGRPKMPIVHRDLKSSNILVKNDLTCCLCDFGLSLRLDPTLSVDDLANSGQVG
TARYMAPEVLESRMNLENVESFKQTDVYSMALVLWEMTSRCNAVGEVKDYEPPFGSKVRE
HPCVESMKDNVLRDRGRPEIPSFWLNHQGIQMVCETLTECWDHDPEARLTAQCVAERFSE
LEHLDRLSGRSCSEEKIPEDGSLNTTK
Number of residues
567
Molecular Weight
64567.1
Theoretical pI
5.74
GO Classification
Functions
ATP binding / glycosaminoglycan binding / metal ion binding / receptor signaling protein serine/threonine kinase activity / SMAD binding / transforming growth factor beta binding / transforming growth factor beta receptor activity, type II / transforming growth factor beta-activated receptor activity / transmembrane receptor protein serine/threonine kinase activity / type I transforming growth factor beta receptor binding / type III transforming growth factor beta receptor binding
Processes
activation of protein kinase activity / apoptotic process / blood vessel development / brain development / embryonic cranial skeleton morphogenesis / embryonic hemopoiesis / heart development / myeloid dendritic cell differentiation / negative regulation of transforming growth factor beta receptor signaling pathway / palate development / pathway-restricted SMAD protein phosphorylation / patterning of blood vessels / peptidyl-serine phosphorylation / peptidyl-threonine phosphorylation / positive regulation of B cell tolerance induction / positive regulation of cell proliferation / positive regulation of mesenchymal cell proliferation / positive regulation of NK T cell differentiation / positive regulation of reactive oxygen species metabolic process / positive regulation of T cell tolerance induction / positive regulation of tolerance induction to self antigen / protein phosphorylation / regulation of cell proliferation / regulation of growth / response to cholesterol / response to drug / transforming growth factor beta receptor signaling pathway / vasculogenesis
Components
caveola / cytosol / external side of plasma membrane / integral component of membrane / plasma membrane / receptor complex / transforming growth factor beta receptor homodimeric complex
General Function
Type iii transforming growth factor beta receptor binding
Specific Function
Transmembrane serine/threonine kinase forming with the TGF-beta type I serine/threonine kinase receptor, TGFBR1, the non-promiscuous receptor for the TGF-beta cytokines TGFB1, TGFB2 and TGFB3. Transduces the TGFB1, TGFB2 and TGFB3 signal from the cell surface to the cytoplasm and is thus regulating a plethora of physiological and pathological processes including cell cycle arrest in epithelial and hematopoietic cells, control of mesenchymal cell proliferation and differentiation, wound healing, extracellular matrix production, immunosuppression and carcinogenesis. The formation of the receptor complex composed of 2 TGFBR1 and 2 TGFBR2 molecules symmetrically bound to the cytokine dimer results in the phosphorylation and the activation of TGFRB1 by the constitutively active TGFBR2. Activated TGFBR1 phosphorylates SMAD2 which dissociates from the receptor and interacts with SMAD4. The SMAD2-SMAD4 complex is subsequently translocated to the nucleus where it modulates the transcription of the TGF-beta-regulated genes. This constitutes the canonical SMAD-dependent TGF-beta signaling cascade. Also involved in non-canonical, SMAD-independent TGF-beta signaling pathways.
Pfam Domain Function
Transmembrane Regions
167-187
Cellular Location
Cell membrane
Gene sequence
>lcl|BSEQ0021931|TGF-beta receptor type-2 (TGFBR2)
ATGGGTCGGGGGCTGCTCAGGGGCCTGTGGCCGCTGCACATCGTCCTGTGGACGCGTATC
GCCAGCACGATCCCACCGCACGTTCAGAAGTCGGATGTGGAAATGGAGGCCCAGAAAGAT
GAAATCATCTGCCCCAGCTGTAATAGGACTGCCCATCCACTGAGACATATTAATAACGAC
ATGATAGTCACTGACAACAACGGTGCAGTCAAGTTTCCACAACTGTGTAAATTTTGTGAT
GTGAGATTTTCCACCTGTGACAACCAGAAATCCTGCATGAGCAACTGCAGCATCACCTCC
ATCTGTGAGAAGCCACAGGAAGTCTGTGTGGCTGTATGGAGAAAGAATGACGAGAACATA
ACACTAGAGACAGTTTGCCATGACCCCAAGCTCCCCTACCATGACTTTATTCTGGAAGAT
GCTGCTTCTCCAAAGTGCATTATGAAGGAAAAAAAAAAGCCTGGTGAGACTTTCTTCATG
TGTTCCTGTAGCTCTGATGAGTGCAATGACAACATCATCTTCTCAGAAGAATATAACACC
AGCAATCCTGACTTGTTGCTAGTCATATTTCAAGTGACAGGCATCAGCCTCCTGCCACCA
CTGGGAGTTGCCATATCTGTCATCATCATCTTCTACTGCTACCGCGTTAACCGGCAGCAG
AAGCTGAGTTCAACCTGGGAAACCGGCAAGACGCGGAAGCTCATGGAGTTCAGCGAGCAC
TGTGCCATCATCCTGGAAGATGACCGCTCTGACATCAGCTCCACGTGTGCCAACAACATC
AACCACAACACAGAGCTGCTGCCCATTGAGCTGGACACCCTGGTGGGGAAAGGTCGCTTT
GCTGAGGTCTATAAGGCCAAGCTGAAGCAGAACACTTCAGAGCAGTTTGAGACAGTGGCA
GTCAAGATCTTTCCCTATGAGGAGTATGCCTCTTGGAAGACAGAGAAGGACATCTTCTCA
GACATCAATCTGAAGCATGAGAACATACTCCAGTTCCTGACGGCTGAGGAGCGGAAGACG
GAGTTGGGGAAACAATACTGGCTGATCACCGCCTTCCACGCCAAGGGCAACCTACAGGAG
TACCTGACGCGGCATGTCATCAGCTGGGAGGACCTGCGCAAGCTGGGCAGCTCCCTCGCC
CGGGGGATTGCTCACCTCCACAGTGATCACACTCCATGTGGGAGGCCCAAGATGCCCATC
GTGCACAGGGACCTCAAGAGCTCCAATATCCTCGTGAAGAACGACCTAACCTGCTGCCTG
TGTGACTTTGGGCTTTCCCTGCGTCTGGACCCTACTCTGTCTGTGGATGACCTGGCTAAC
AGTGGGCAGGTGGGAACTGCAAGATACATGGCTCCAGAAGTCCTAGAATCCAGGATGAAT
TTGGAGAATGTTGAGTCCTTCAAGCAGACCGATGTCTACTCCATGGCTCTGGTGCTCTGG
GAAATGACATCTCGCTGTAATGCAGTGGGAGAAGTAAAAGATTATGAGCCTCCATTTGGT
TCCAAGGTGCGGGAGCACCCCTGTGTCGAAAGCATGAAGGACAACGTGTTGAGAGATCGA
GGGCGACCAGAAATTCCCAGCTTCTGGCTCAACCACCAGGGCATCCAGATGGTGTGTGAG
ACGTTGACTGAGTGCTGGGACCACGACCCAGAGGCCCGTCTCACAGCCCAGTGTGTGGCA
GAACGCTTCAGTGAGCTGGAGCATCTGGACAGGCTCTCGGGGAGGAGCTGCTCGGAGGAG
AAGATTCCTGAAGACGGCTCCCTAAACACTACCAAATAG
Chromosome Location
3
Locus
3p22
External Identifiers
ResourceLink
UniProtKB IDP37173
UniProtKB Entry NameTGFR2_HUMAN
GenBank Protein ID339570
GenBank Gene IDM85079
GenAtlas IDTGFBR2
HGNC IDHGNC:11773
General References
  1. Lin HY, Wang XF, Ng-Eaton E, Weinberg RA, Lodish HF: Expression cloning of the TGF-beta type II receptor, a functional transmembrane serine/threonine kinase. Cell. 1992 Feb 21;68(4):775-85. [PubMed:1310899]
  2. Authors unspecified: Expression cloning of the TGF-beta type II receptor, a functional transmembrane serine/threonine kinase. Cell. 1992 Sep 18;70(6):1069. [PubMed:1525823]
  3. Nikawa J: A cDNA encoding the human transforming growth factor beta receptor suppresses the growth defect of a yeast mutant. Gene. 1994 Nov 18;149(2):367-72. [PubMed:7959019]
  4. Takenoshita S, Hagiwara K, Nagashima M, Gemma A, Bennett WP, Harris CC: The genomic structure of the gene encoding the human transforming growth factor beta type II receptor (TGF-beta RII). Genomics. 1996 Sep 1;36(2):341-4. [PubMed:8812462]
  5. Lu SL, Zhang WC, Akiyama Y, Nomizu T, Yuasa Y: Genomic structure of the transforming growth factor beta type II receptor gene and its mutations in hereditary nonpolyposis colorectal cancers. Cancer Res. 1996 Oct 15;56(20):4595-8. [PubMed:8840968]
  6. Ogasa H, Noma T, Murata H, Kawai S, Nakazawa A: Cloning of a cDNA encoding the human transforming growth factor-beta type II receptor: heterogeneity of the mRNA. Gene. 1996 Nov 28;181(1-2):185-90. [PubMed:8973329]
  7. Ota T, Suzuki Y, Nishikawa T, Otsuki T, Sugiyama T, Irie R, Wakamatsu A, Hayashi K, Sato H, Nagai K, Kimura K, Makita H, Sekine M, Obayashi M, Nishi T, Shibahara T, Tanaka T, Ishii S, Yamamoto J, Saito K, Kawai Y, Isono Y, Nakamura Y, Nagahari K, Murakami K, Yasuda T, Iwayanagi T, Wagatsuma M, Shiratori A, Sudo H, Hosoiri T, Kaku Y, Kodaira H, Kondo H, Sugawara M, Takahashi M, Kanda K, Yokoi T, Furuya T, Kikkawa E, Omura Y, Abe K, Kamihara K, Katsuta N, Sato K, Tanikawa M, Yamazaki M, Ninomiya K, Ishibashi T, Yamashita H, Murakawa K, Fujimori K, Tanai H, Kimata M, Watanabe M, Hiraoka S, Chiba Y, Ishida S, Ono Y, Takiguchi S, Watanabe S, Yosida M, Hotuta T, Kusano J, Kanehori K, Takahashi-Fujii A, Hara H, Tanase TO, Nomura Y, Togiya S, Komai F, Hara R, Takeuchi K, Arita M, Imose N, Musashino K, Yuuki H, Oshima A, Sasaki N, Aotsuka S, Yoshikawa Y, Matsunawa H, Ichihara T, Shiohata N, Sano S, Moriya S, Momiyama H, Satoh N, Takami S, Terashima Y, Suzuki O, Nakagawa S, Senoh A, Mizoguchi H, Goto Y, Shimizu F, Wakebe H, Hishigaki H, Watanabe T, Sugiyama A, Takemoto M, Kawakami B, Yamazaki M, Watanabe K, Kumagai A, Itakura S, Fukuzumi Y, Fujimori Y, Komiyama M, Tashiro H, Tanigami A, Fujiwara T, Ono T, Yamada K, Fujii Y, Ozaki K, Hirao M, Ohmori Y, Kawabata A, Hikiji T, Kobatake N, Inagaki H, Ikema Y, Okamoto S, Okitani R, Kawakami T, Noguchi S, Itoh T, Shigeta K, Senba T, Matsumura K, Nakajima Y, Mizuno T, Morinaga M, Sasaki M, Togashi T, Oyama M, Hata H, Watanabe M, Komatsu T, Mizushima-Sugano J, Satoh T, Shirai Y, Takahashi Y, Nakagawa K, Okumura K, Nagase T, Nomura N, Kikuchi H, Masuho Y, Yamashita R, Nakai K, Yada T, Nakamura Y, Ohara O, Isogai T, Sugano S: Complete sequencing and characterization of 21,243 full-length human cDNAs. Nat Genet. 2004 Jan;36(1):40-5. Epub 2003 Dec 21. [PubMed:14702039]
  8. Zhang Z, Henzel WJ: Signal peptide prediction based on analysis of experimentally verified cleavage sites. Protein Sci. 2004 Oct;13(10):2819-24. Epub 2004 Aug 31. [PubMed:15340161]
  9. Wieser R, Wrana JL, Massague J: GS domain mutations that constitutively activate T beta R-I, the downstream signaling component in the TGF-beta receptor complex. EMBO J. 1995 May 15;14(10):2199-208. [PubMed:7774578]
  10. Tsukazaki T, Chiang TA, Davison AF, Attisano L, Wrana JL: SARA, a FYVE domain protein that recruits Smad2 to the TGFbeta receptor. Cell. 1998 Dec 11;95(6):779-91. [PubMed:9865696]
  11. Gilboa L, Wells RG, Lodish HF, Henis YI: Oligomeric structure of type I and type II transforming growth factor beta receptors: homodimers form in the ER and persist at the plasma membrane. J Cell Biol. 1998 Feb 23;140(4):767-77. [PubMed:9472030]
  12. Perlman R, Schiemann WP, Brooks MW, Lodish HF, Weinberg RA: TGF-beta-induced apoptosis is mediated by the adapter protein Daxx that facilitates JNK activation. Nat Cell Biol. 2001 Aug;3(8):708-14. [PubMed:11483955]
  13. Felici A, Wurthner JU, Parks WT, Giam LR, Reiss M, Karpova TS, McNally JG, Roberts AB: TLP, a novel modulator of TGF-beta signaling, has opposite effects on Smad2- and Smad3-dependent signaling. EMBO J. 2003 Sep 1;22(17):4465-77. [PubMed:12941698]
  14. Meng Q, Lux A, Holloschi A, Li J, Hughes JM, Foerg T, McCarthy JE, Heagerty AM, Kioschis P, Hafner M, Garland JM: Identification of Tctex2beta, a novel dynein light chain family member that interacts with different transforming growth factor-beta receptors. J Biol Chem. 2006 Dec 1;281(48):37069-80. Epub 2006 Sep 18. [PubMed:16982625]
  15. Daub H, Olsen JV, Bairlein M, Gnad F, Oppermann FS, Korner R, Greff Z, Keri G, Stemmann O, Mann M: Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle. Mol Cell. 2008 Aug 8;31(3):438-48. doi: 10.1016/j.molcel.2008.07.007. [PubMed:18691976]
  16. Oppermann FS, Gnad F, Olsen JV, Hornberger R, Greff Z, Keri G, Mann M, Daub H: Large-scale proteomics analysis of the human kinome. Mol Cell Proteomics. 2009 Jul;8(7):1751-64. doi: 10.1074/mcp.M800588-MCP200. Epub 2009 Apr 15. [PubMed:19369195]
  17. Wu YY, Peck K, Chang YL, Pan SH, Cheng YF, Lin JC, Yang RB, Hong TM, Yang PC: SCUBE3 is an endogenous TGF-beta receptor ligand and regulates the epithelial-mesenchymal transition in lung cancer. Oncogene. 2011 Aug 25;30(34):3682-93. doi: 10.1038/onc.2011.85. Epub 2011 Mar 28. [PubMed:21441952]
  18. Bian Y, Song C, Cheng K, Dong M, Wang F, Huang J, Sun D, Wang L, Ye M, Zou H: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome. J Proteomics. 2014 Jan 16;96:253-62. doi: 10.1016/j.jprot.2013.11.014. Epub 2013 Nov 22. [PubMed:24275569]
  19. Hart PJ, Deep S, Taylor AB, Shu Z, Hinck CS, Hinck AP: Crystal structure of the human TbetaR2 ectodomain--TGF-beta3 complex. Nat Struct Biol. 2002 Mar;9(3):203-8. [PubMed:11850637]
  20. Boesen CC, Radaev S, Motyka SA, Patamawenu A, Sun PD: The 1.1 A crystal structure of human TGF-beta type II receptor ligand binding domain. Structure. 2002 Jul;10(7):913-9. [PubMed:12121646]
  21. Deep S, Walker KP 3rd, Shu Z, Hinck AP: Solution structure and backbone dynamics of the TGFbeta type II receptor extracellular domain. Biochemistry. 2003 Sep 2;42(34):10126-39. [PubMed:12939140]
  22. Groppe J, Hinck CS, Samavarchi-Tehrani P, Zubieta C, Schuermann JP, Taylor AB, Schwarz PM, Wrana JL, Hinck AP: Cooperative assembly of TGF-beta superfamily signaling complexes is mediated by two disparate mechanisms and distinct modes of receptor binding. Mol Cell. 2008 Feb 1;29(2):157-68. doi: 10.1016/j.molcel.2007.11.039. [PubMed:18243111]
  23. Radaev S, Zou Z, Huang T, Lafer EM, Hinck AP, Sun PD: Ternary complex of transforming growth factor-beta1 reveals isoform-specific ligand recognition and receptor recruitment in the superfamily. J Biol Chem. 2010 May 7;285(19):14806-14. doi: 10.1074/jbc.M109.079921. Epub 2010 Mar 5. [PubMed:20207738]
  24. Lu SL, Kawabata M, Imamura T, Akiyama Y, Nomizu T, Miyazono K, Yuasa Y: HNPCC associated with germline mutation in the TGF-beta type II receptor gene. Nat Genet. 1998 May;19(1):17-8. [PubMed:9590282]
  25. Tanaka S, Mori M, Mafune K, Ohno S, Sugimachi K: A dominant negative mutation of transforming growth factor-beta receptor type II gene in microsatellite stable oesophageal carcinoma. Br J Cancer. 2000 May;82(9):1557-60. [PubMed:10789724]
  26. Lucke CD, Philpott A, Metcalfe JC, Thompson AM, Hughes-Davies L, Kemp PR, Hesketh R: Inhibiting mutations in the transforming growth factor beta type 2 receptor in recurrent human breast cancer. Cancer Res. 2001 Jan 15;61(2):482-5. [PubMed:11212236]
  27. Watanabe Y, Kinoshita A, Yamada T, Ohta T, Kishino T, Matsumoto N, Ishikawa M, Niikawa N, Yoshiura K: A catalog of 106 single-nucleotide polymorphisms (SNPs) and 11 other types of variations in genes for transforming growth factor-beta1 (TGF-beta1) and its signaling pathway. J Hum Genet. 2002;47(9):478-83. [PubMed:12202987]
  28. Mizuguchi T, Collod-Beroud G, Akiyama T, Abifadel M, Harada N, Morisaki T, Allard D, Varret M, Claustres M, Morisaki H, Ihara M, Kinoshita A, Yoshiura K, Junien C, Kajii T, Jondeau G, Ohta T, Kishino T, Furukawa Y, Nakamura Y, Niikawa N, Boileau C, Matsumoto N: Heterozygous TGFBR2 mutations in Marfan syndrome. Nat Genet. 2004 Aug;36(8):855-60. Epub 2004 Jul 4. [PubMed:15235604]
  29. Pannu H, Fadulu VT, Chang J, Lafont A, Hasham SN, Sparks E, Giampietro PF, Zaleski C, Estrera AL, Safi HJ, Shete S, Willing MC, Raman CS, Milewicz DM: Mutations in transforming growth factor-beta receptor type II cause familial thoracic aortic aneurysms and dissections. Circulation. 2005 Jul 26;112(4):513-20. Epub 2005 Jul 18. [PubMed:16027248]
  30. Loeys BL, Chen J, Neptune ER, Judge DP, Podowski M, Holm T, Meyers J, Leitch CC, Katsanis N, Sharifi N, Xu FL, Myers LA, Spevak PJ, Cameron DE, De Backer J, Hellemans J, Chen Y, Davis EC, Webb CL, Kress W, Coucke P, Rifkin DB, De Paepe AM, Dietz HC: A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. Nat Genet. 2005 Mar;37(3):275-81. Epub 2005 Jan 30. [PubMed:15731757]
  31. Disabella E, Grasso M, Marziliano N, Ansaldi S, Lucchelli C, Porcu E, Tagliani M, Pilotto A, Diegoli M, Lanzarini L, Malattia C, Pelliccia A, Ficcadenti A, Gabrielli O, Arbustini E: Two novel and one known mutation of the TGFBR2 gene in Marfan syndrome not associated with FBN1 gene defects. Eur J Hum Genet. 2006 Jan;14(1):34-8. [PubMed:16251899]
  32. Sjoblom T, Jones S, Wood LD, Parsons DW, Lin J, Barber TD, Mandelker D, Leary RJ, Ptak J, Silliman N, Szabo S, Buckhaults P, Farrell C, Meeh P, Markowitz SD, Willis J, Dawson D, Willson JK, Gazdar AF, Hartigan J, Wu L, Liu C, Parmigiani G, Park BH, Bachman KE, Papadopoulos N, Vogelstein B, Kinzler KW, Velculescu VE: The consensus coding sequences of human breast and colorectal cancers. Science. 2006 Oct 13;314(5797):268-74. Epub 2006 Sep 7. [PubMed:16959974]
  33. Greenman C, Stephens P, Smith R, Dalgliesh GL, Hunter C, Bignell G, Davies H, Teague J, Butler A, Stevens C, Edkins S, O'Meara S, Vastrik I, Schmidt EE, Avis T, Barthorpe S, Bhamra G, Buck G, Choudhury B, Clements J, Cole J, Dicks E, Forbes S, Gray K, Halliday K, Harrison R, Hills K, Hinton J, Jenkinson A, Jones D, Menzies A, Mironenko T, Perry J, Raine K, Richardson D, Shepherd R, Small A, Tofts C, Varian J, Webb T, West S, Widaa S, Yates A, Cahill DP, Louis DN, Goldstraw P, Nicholson AG, Brasseur F, Looijenga L, Weber BL, Chiew YE, DeFazio A, Greaves MF, Green AR, Campbell P, Birney E, Easton DF, Chenevix-Trench G, Tan MH, Khoo SK, Teh BT, Yuen ST, Leung SY, Wooster R, Futreal PA, Stratton MR: Patterns of somatic mutation in human cancer genomes. Nature. 2007 Mar 8;446(7132):153-8. [PubMed:17344846]
  34. Drera B, Ritelli M, Zoppi N, Wischmeijer A, Gnoli M, Fattori R, Calzavara-Pinton PG, Barlati S, Colombi M: Loeys-Dietz syndrome type I and type II: clinical findings and novel mutations in two Italian patients. Orphanet J Rare Dis. 2009 Nov 2;4:24. doi: 10.1186/1750-1172-4-24. [PubMed:19883511]
  35. Muramatsu Y, Kosho T, Magota M, Yokotsuka T, Ito M, Yasuda A, Kito O, Suzuki C, Nagata Y, Kawai S, Ikoma M, Hatano T, Nakayama M, Kawamura R, Wakui K, Morisaki H, Morisaki T, Fukushima Y: Progressive aortic root and pulmonary artery aneurysms in a neonate with Loeys-Dietz syndrome type 1B. Am J Med Genet A. 2010 Feb;152A(2):417-21. doi: 10.1002/ajmg.a.33263. [PubMed:20101701]
  36. Kirmani S, Tebben PJ, Lteif AN, Gordon D, Clarke BL, Hefferan TE, Yaszemski MJ, McGrann PS, Lindor NM, Ellison JW: Germline TGF-beta receptor mutations and skeletal fragility: a report on two patients with Loeys-Dietz syndrome. Am J Med Genet A. 2010 Apr;152A(4):1016-9. doi: 10.1002/ajmg.a.33356. [PubMed:20358619]
  37. Yang JH, Ki CS, Han H, Song BG, Jang SY, Chung TY, Sung K, Lee HJ, Kim DK: Clinical features and genetic analysis of Korean patients with Loeys-Dietz syndrome. J Hum Genet. 2012 Jan;57(1):52-6. doi: 10.1038/jhg.2011.130. Epub 2011 Nov 24. [PubMed:22113417]
  38. Ha JS, Kim YH: A sporadic case of Loeys-Dietz syndrome type I with two novel mutations of the TGFBR2 gene. Korean J Pediatr. 2011 Jun;54(6):272-5. doi: 10.3345/kjp.2011.54.6.272. Epub 2011 Jun 30. [PubMed:21949523]

Drug Relations

Drug Relations
DrugBank IDNameDrug groupPharmacological action?ActionsDetails
DB09462Glycerinapproved, investigationalunknownDetails
DB10770Foreskin fibroblast (neonatal)approvedunknownagonistDetails
DB10772Foreskin keratinocyte (neonatal)approvedyesagonistDetails
DB12010Fostamatinibapproved, investigationalunknowninhibitorDetails