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ANTXR2
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1SHT, 1SHU, 1T6B, 1TZN
Identifiers
Aliases	ANTXR2, CMG-2, CMG2, HFS, ISH, JHF, anthrax toxin receptor 2, ANTXR cell adhesion molecule 2
External IDs	OMIM: 608041; MGI: 1919164; HomoloGene: 43236; GeneCards: ANTXR2; OMA:ANTXR2 - orthologs
Gene location (Human) Chr. Chromosome 4 (human) Band 4q21.21 Start 79,901,146 bp End 80,125,454 bp
Gene location (Mouse) Chr. Chromosome 5 (mouse) Band 5|5 E3 Start 98,030,642 bp End 98,178,902 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in gastric mucosa decidua smooth muscle tissue stromal cell of endometrium tail of epididymis Achilles tendon myometrium body of uterus gallbladder muscle layer of sigmoid colon Top expressed in decidua right ventricle atrium cardiac muscle tissue of left ventricle body of femur calvaria left lung lobe uterus carotid body interventricular septum More reference expression data BioGPS n/a
Gene ontology Molecular function protein binding metal ion binding signaling receptor activity transmembrane signaling receptor activity Cellular component integral component of membrane extracellular region cell surface plasma membrane endosome membrane endoplasmic reticulum membrane external side of plasma membrane endoplasmic reticulum membrane Biological process reproductive process toxin transport signal transduction Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 118429 71914 Ensembl ENSG00000163297 ENSMUSG00000029338 UniProt P58335 Q6DFX2 RefSeq (mRNA) NM_001145794 NM_001286780 NM_001286781 NM_058172 NM_133738 RefSeq (protein) NP_001139266 NP_001273709 NP_001273710 NP_477520 NP_001273710.1 NP_598499 Location (UCSC) Chr 4: 79.9 – 80.13 Mb Chr 5: 98.03 – 98.18 Mb PubMed search
Wikidata
View/Edit Human View/Edit Mouse

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.

Mutations in ANTXR2 are associated with infantile systemic hyalinosis and juvenile systemic hyalinosis, both autosomal recessive disorders. Biallelic missense mutations of ANTXR2 have been described in a case report of atypical infantile systemic hyalinosis with intestinal lymphangiectasia causing protein-losing enteropathy. 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.

See also

• Anthrax toxin

References

1. ^ GRCh38: Ensembl release 89: ENSG00000163297 – Ensembl, May 2017
2. ^ GRCm38: Ensembl release 89: ENSMUSG00000029338 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. 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.
6. Scobie HM, Rainey GJ, Bradley KA, Young JA (Apr 2003). "Human capillary morphogenesis protein 2 functions as an anthrax toxin receptor". Proc Natl Acad Sci U S A. 100 (9): 5170–4. Bibcode:2003PNAS..100.5170S. doi:10.1073/pnas.0431098100. PMC 154317. PMID 12700348.
7. "Entrez Gene: ANTXR2 anthrax toxin receptor 2".
8. ^ Deuquet J, Abrami L, Difeo A, Ramirez MC, Martignetti JA, Gisou van der Goot F (2009). "Systemic Hyalinosis Mutations in the CMG2 Ectodomain Leading to Loss of Function Through Retention in the Endoplasmic Reticulum". Human Mutation. 30 (4): 583–589. doi:10.1002/humu.20872. PMID 19191226.
9. Kniffin CL, McKusick VA (14 January 2013) . "HYALINE FIBROMATOSIS SYNDROME; HFS". Online Mendelian Inheritance in Man. #228600. Retrieved 30 January 2024.
10. Dowling O, Difeo A, Ramirez MC, Tukel T, Narla G, Bonafe L, et al. (2003). "Mutations in Capillary Morphogenesis Gene-2 Result in the Allelic Disorders Juvenile Hyaline Fibromatosis and Infantile Systemic Hyalinosis". The American Journal of Human Genetics. 73 (4): 957–966. doi:10.1086/378781. PMC 1180616. PMID 12973667.
11. 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.
12. Alreheili K, AlMehaidib A, Alsaleem K, Banemi M, Aldekhail W, Al-Mayouf SM (2012). "Intestinal lymphangiectasia in a patient with infantile systemic hyalinosis syndrome: a rare cause of protein-losing enteropathy". Annals of Saudi Medicine. 32 (2): 206–208. doi:10.5144/0256-4947.2012.206. PMC 6086646. PMID 22366835.
13. Ozen A, Lenardo MJ (2023). "Protein-Losing Enteropathy". The New England Journal of Medicine. 389 (8): 733–748. doi:10.1056/NEJMra2301594. PMID 37611123. S2CID 261099908.

External links

• Human ANTXR2 genome location and ANTXR2 gene details page in the UCSC Genome Browser.

Further reading

• Sanger Centre T, Washington University Genome Sequencing Cente T (1999). "Toward a complete human genome sequence". Genome Res. 8 (11): 1097–108. doi:10.1101/gr.8.11.1097. PMID 9847074.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• 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.

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