Anthrax toxin receptor 2 (also known as capillary morphogenesis gene 2 or CMG2) is a protein that in humans is encoded by the ANTXR2 gene.[5][6][7]
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Mutations in ANTXR2 are associated with infantile systemic hyalinosis[8][9] and juvenile systemic hyalinosis, both autosomal recessive disorders.[10][11] Biallelic missense mutations of ANTXR2 have been described in a case report of atypical infantile systemic hyalinosis with intestinal lymphangiectasia causing protein-losing enteropathy.[12][13] Deuquet et al. (2009) found that three out of four missense mutations in the von Willebrand domain of ANTXR2 identified from cases of infantile systemic hyalinosis resulted in partial or complete retention of the protein in the endoplasmic reticulum (ER) of transfected HeLa cells and anthrax toxin receptor–deficient Chinese hamster ovary cells, as did a mutation in the transmembrane domain. They speculate that, for certain mutations, assisting the proper folding and surface expression of ANTXR2 by chemical chaperones may allow for rescue of phenotype, as these proteins appeared to be relatively stable in the ER without rapid degradation by endoplasmic-reticulum-associated protein degradation.[8]
Bell SE, Mavila A, Salazar R, Bayless KJ, Kanagala S, Maxwell SA, et al. (Oct 2001). "Differential gene expression during capillary morphogenesis in 3D collagen matrices: regulated expression of genes involved in basement membrane matrix assembly, cell cycle progression, cellular differentiation and G-protein signaling". J Cell Sci. 114 (Pt 15): 2755–73. doi:10.1242/jcs.114.15.2755. PMID 11683410.
Kniffin CL, McKusick VA (14 January 2013) [Originally published 3 June 1986]. "HYALINE FIBROMATOSIS SYNDROME; HFS". Online Mendelian Inheritance in Man. #228600. Retrieved 30 January 2024.
El-Kamah GY, Fong K, El-Ruby M, Afifi HH, Clements SE, Lai-Cheong JE, et al. (2010). "Spectrum of mutations in the ANTXR2 (CMG2) gene in infantile systemic hyalinosis and juvenile hyaline fibromatosis". British Journal of Dermatology. 163 (1): 213–215. doi:10.1111/j.1365-2133.2010.09769.x. PMID 20331448. S2CID 232096.
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- Abrami L, Liu S, Cosson P, et al. (2003). "Anthrax toxin triggers endocytosis of its receptor via a lipid raft-mediated clathrin-dependent process". J. Cell Biol. 160 (3): 321–8. doi:10.1083/jcb.200211018. PMC 2172673. PMID 12551953.
- Dowling O, Difeo A, Ramirez MC, et al. (2003). "Mutations in capillary morphogenesis gene-2 result in the allelic disorders juvenile hyaline fibromatosis and infantile systemic hyalinosis". Am. J. Hum. Genet. 73 (4): 957–66. doi:10.1086/378781. PMC 1180616. PMID 12973667.
- Hanks S, Adams S, Douglas J, et al. (2003). "Mutations in the gene encoding capillary morphogenesis protein 2 cause juvenile hyaline fibromatosis and infantile systemic hyalinosis". Am. J. Hum. Genet. 73 (4): 791–800. doi:10.1086/378418. PMC 1180602. PMID 14508707.
- Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
- Wigelsworth DJ, Krantz BA, Christensen KA, et al. (2004). "Binding stoichiometry and kinetics of the interaction of a human anthrax toxin receptor, CMG2, with protective antigen". J. Biol. Chem. 279 (22): 23349–56. doi:10.1074/jbc.M401292200. PMID 15044490.
- Lacy DB, Wigelsworth DJ, Scobie HM, et al. (2004). "Crystal structure of the von Willebrand factor A domain of human capillary morphogenesis protein 2: an anthrax toxin receptor". Proc. Natl. Acad. Sci. U.S.A. 101 (17): 6367–72. Bibcode:2004PNAS..101.6367L. doi:10.1073/pnas.0401506101. PMC 404051. PMID 15079089.
- Colland F, Jacq X, Trouplin V, et al. (2004). "Functional proteomics mapping of a human signaling pathway". Genome Res. 14 (7): 1324–32. doi:10.1101/gr.2334104. PMC 442148. PMID 15231748.
- Santelli E, Bankston LA, Leppla SH, Liddington RC (2004). "Crystal structure of a complex between anthrax toxin and its host cell receptor". Nature. 430 (7002): 905–8. Bibcode:2004Natur.430..905S. doi:10.1038/nature02763. PMID 15243628. S2CID 4398499.
- Lacy DB, Wigelsworth DJ, Melnyk RA, et al. (2004). "Structure of heptameric protective antigen bound to an anthrax toxin receptor: a role for receptor in pH-dependent pore formation". Proc. Natl. Acad. Sci. U.S.A. 101 (36): 13147–51. Bibcode:2004PNAS..10113147L. doi:10.1073/pnas.0405405101. PMC 516539. PMID 15326297.
- Abrami L, Lindsay M, Parton RG, et al. (2004). "Membrane insertion of anthrax protective antigen and cytoplasmic delivery of lethal factor occur at different stages of the endocytic pathway". J. Cell Biol. 166 (5): 645–51. doi:10.1083/jcb.200312072. PMC 2172425. PMID 15337774.
- Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
- Lee JY, Tsai YM, Chao SC, Tu YF (2005). "Capillary morphogenesis gene-2 mutation in infantile systemic hyalinosis: ultrastructural study and mutation analysis in a Taiwanese infant". Clin. Exp. Dermatol. 30 (2): 176–9. doi:10.1111/j.1365-2230.2004.01698.x. PMID 15725249. S2CID 45945185.
- Abrami L, Leppla SH, van der Goot FG (2006). "Receptor palmitoylation and ubiquitination regulate anthrax toxin endocytosis". J. Cell Biol. 172 (2): 309–20. doi:10.1083/jcb.200507067. PMC 2063559. PMID 16401723.
- Gao M, Schulten K (2007). "Onset of anthrax toxin pore formation". Biophys. J. 90 (9): 3267–79. doi:10.1529/biophysj.105.079376. PMC 1432108. PMID 16473908.
- Wei W, Lu Q, Chaudry GJ, et al. (2006). "The LDL receptor-related protein LRP6 mediates internalization and lethality of anthrax toxin". Cell. 124 (6): 1141–54. doi:10.1016/j.cell.2005.12.045. PMID 16564009.