Anthrax Toxin Receptor 2 (ANTXR2)

CMG-2; CMG2; ISH; JHF; Capillary Morphogenesis Protein 2

SPN	R590
HGNC	21732
MGI	1919164
PubMed	22383261
UniProt	P58335
Wiki	ANTXR2

ANTXR2 isa receptor for anthrax toxin. The protein binds to collagen IV and laminin, suggesting that it may be involved in extracellular matrix adhesion. Mutations in this gene cause juvenile hyaline fibromatosis and infantile systemic hyalinosis. Multiple transcript variants encoding different isoforms have been found for this gene.

Expressed in prostate, thymus, ovary, testis, pancreas, colon, heart, kidney, lung, liver, peripheral blood leukocytes, placenta, skeletal muscle, small intestine and spleen.This autosomal recessive syndrome is similar to JHF, but has an earlier onset and a more severe course. Symptoms appear at birth or within the first months of life, with painful, swollen joint contractures, osteopenia, osteoporosis and livid red hyperpigmentation over bony prominences.

Reference

"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. 114:2755-2773(2001) [PubMed] [Europe PMC] [Abstract]

"Human capillary morphogenesis protein 2 functions as an anthrax toxin receptor."
Proc. Natl. Acad. Sci. U.S.A. 100:5170-5174(2003) [PubMed] [Europe PMC] [Abstract]

"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]

"Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]

"The full-ORF clone resource of the German cDNA consortium."
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

"Anthrax toxin triggers endocytosis of its receptor via a lipid raft-mediated clathrin-dependent process."
J. Cell Biol. 160:321-328(2003) [PubMed] [Europe PMC] [Abstract]

"Membrane insertion of anthrax protective antigen and cytoplasmic delivery of lethal factor occur at different stages of the endocytic pathway."
J. Cell Biol. 166:645-651(2004) [PubMed] [Europe PMC] [Abstract]

"Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]

"Crystal structure of a complex between anthrax toxin and its host cell receptor."
Nature 430:905-908(2004) [PubMed] [Europe PMC] [Abstract]

"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. 101:6367-6372(2004) [PubMed] [Europe PMC] [Abstract]

"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. 101:13147-13151(2004) [PubMed] [Europe PMC] [Abstract]

"Mutations in the gene encoding capillary morphogenesis protein 2 cause juvenile hyaline fibromatosis and infantile systemic hyalinosis."
Am. J. Hum. Genet. 73:791-800(2003) [PubMed] [Europe PMC] [Abstract]

"Mutations in capillary morphogenesis gene-2 result in the allelic disorders juvenile hyaline fibromatosis and infantile systemic hyalinosis."
Am. J. Hum. Genet. 73:957-966(2003) [PubMed] [Europe PMC] [Abstract]

"Capillary morphogenesis gene-2 mutation in infantile systemic hyalinosis: ultrastructural study and mutation analysis in a Taiwanese infant."
Clin. Exp. Dermatol. 30:176-179(2005) [PubMed] [Europe PMC] [Abstract]