Property Summary

NCBI Gene PubMed Count 48
PubMed Score 336.96
PubTator Score 66.99

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (5)

Disease Target Count Z-score Confidence
Ankylosing spondylitis 138 3.697 1.8
Cardiovascular system disease 194 0.0 1.0

Expression

  Differential Expression (29)

Disease log2 FC p
posterior fossa group B ependymoma 2.900 2.1e-16
astrocytoma 1.100 4.9e-11
glioblastoma 2.200 9.6e-06
osteosarcoma 1.193 8.0e-05
sonic hedgehog group medulloblastoma 3.400 9.5e-11
cystic fibrosis 2.320 9.2e-07
atypical teratoid / rhabdoid tumor 1.800 2.4e-04
medulloblastoma, large-cell 2.200 3.1e-04
primitive neuroectodermal tumor 1.800 5.9e-04
juvenile dermatomyositis 1.046 3.3e-09
acute quadriplegic myopathy 1.178 8.1e-09
adrenocortical carcinoma -1.123 4.4e-03
primary pancreatic ductal adenocarcinoma 2.309 9.5e-05
tuberculosis and treatment for 6 months -2.300 5.5e-05
intraductal papillary-mucinous neoplasm ... 1.700 1.1e-02
pancreatic cancer 2.400 3.7e-04
breast carcinoma -1.600 5.4e-05
fibroadenoma -1.800 7.8e-03
pediatric high grade glioma 2.000 2.0e-06
pilocytic astrocytoma 1.500 5.5e-06
non primary Sjogren syndrome sicca -1.200 2.1e-02
psoriasis -1.200 4.6e-07
lung carcinoma -2.100 8.9e-34
gastric carcinoma 1.400 2.3e-02
ductal carcinoma in situ -1.600 8.2e-04
invasive ductal carcinoma -2.000 1.2e-03
ovarian cancer -3.500 1.9e-13
pituitary cancer -1.500 3.8e-02
head and neck cancer -1.200 8.0e-03

Protein-protein Interaction (4)

Gene RIF (32)

PMID Text
26805886 Roles of Anthrax Toxin Receptor 2 in Anthrax Toxin Membrane Insertion and Pore Formation
26703731 Anthrax Susceptibility: Human Genetic Polymorphisms Modulating ANTXR2 Expression
26107617 The disulfide bond Cys255-Cys279 in the immunoglobulin-like domain of ANTXR2 is required for membrane insertion of anthrax protective antigen pore.
25781883 CMG2 glycosylation provides a buffer towards genetic variation by promoting folding of the protein in the ER lumen.
25736362 miR-124 might induce autophagy to participate in AS by targeting ANTXR2, which might be implicated in pathological process of AS.
25169729 Ankylosing spondylitis is associated with the anthrax toxin receptor 2 gene.
24993339 Results show that CMG2 has been shown to be able to regulate the proliferation and tubule formation of endothelial cells, but not the migration.
24924630 data suggested that cellular cholesterol regulated ANTXR2-dependent activation of MMP-2 via ERK1/2 phosphorylation in neuroglioma U251 cell.
24742682 Silencing CMG2 using targeted siRNAs provided almost complete protection against anthrax lethal toxin-induced cytotoxicity and death in murine and human macrophages.
24667935 Loss of CMG2 expression is associated with breast cancer progression.
24641616 A protective antigen mutation increases the pH threshold of anthrax toxin receptor 2-mediated pore formation
24380801 Fused the ANTXR2 ectodomain to the C-terminus of bacterial Trigger Factor (TF), and the fusion protein was overly expressed as a dominant soluble protein in E coli.
22855243 Investigated the kinetics of binding as a function of pH to the full-length monomeric anthrax protective antigen(PA)and to two variants to CMG2. Results suggest that for the full-length PA, low pH increases the binding affinity.
22383261 2 novel ANTXR2 mutations were identified in patients with hyaline fibromatosis syndrome
22315420 results reveal extensive diversity in cell lethality dependent on anthrax toxin PA-mediated toxin binding and uptake, and identify individual differences in CMG2 expression level as a determinant of this diversity
22118297 ANTXR2 might not be a susceptibility gene of Ankylosing Spondylitis in Chinese Han.
21328543 Missense mutations in the extracellular von Willebrand domain of CMG2 lead to protein folding defects.
21041274 Observational study of gene-disease association. (HuGE Navigator)
20652271 ANTXR2 and IL-1R2 polymorphisms are not associated with ankylosing spondylitis in Chinese Han population.
20652271 Observational study of gene-disease association. (HuGE Navigator)
20331448 the molecular basis (spectrum of ANTXR2 mutations) of infantile systemic hyalinosis and juvenile hyaline fibromatosis in two unrelated Egyptian families
20062062 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
19858192 Cytoplasmic delivery of lethal factor by anthrax toxin receptor 2 was mediated by cathepsin B.
19240061 Observational study of gene-disease association. (HuGE Navigator)
19191226 Results suggest that, in vivo, slow folding, rather than misfolding, is responsible for ER retention, and that systemic hyalinosis can be qualified as a conformational disease.
17183731 Divalent metal ion coordination by residue T118 of anthrax toxin receptor 2 is not essential for protective antigen binding.
16473908 Molecular dynamics simulations explain the great strength that the protective antigen-capillary morphogenesis gene 2 complex achieves through extraordinary coordination of a divalent cation.
16401723 Data show that cells expressing palmitoylation-defective mutant receptors are less sensitive to anthrax toxin due to a lower number of surface receptors as well as premature internalization of protective antigen without a requirement for heptamerization.
15243628 crystal structure of the complex with anthrax toxin
15079089 structures provide a template to begin probing the high-affinity capillary morphogenesis protein 2-protective antigen interaction and may facilitate understanding of toxin assembly/internalization
14508707 identification of 15 different mutations in the gene encoding capillary morphogenesis protein 2 in 17 families with juvenile hyaline fibromatosis or infantile systemic hyalinosis
12973667 identification and characterization of juvenile hyaline fibromatosis and infantile systemic hyalinosis disease-causing mutations in the capillary morphogenesis factor-2 gene

AA Sequence

MVAERSPARSPGSWLFPGLWLLVLSGPGGLLRAQEQPSCRRAFDLYFVLDKSGSVANNWIEIYNFVQQLA      1 - 70
ERFVSPEMRLSFIVFSSQATIILPLTGDRGKISKGLEDLKRVSPVGETYIHEGLKLANEQIQKAGGLKTS     71 - 140
SIIIALTDGKLDGLVPSYAEKEAKISRSLGASVYCVGVLDFEQAQLERIADSKEQVFPVKGGFQALKGII    141 - 210
NSILAQSCTEILELQPSSVCVGEEFQIVLSGRGFMLGSRNGSVLCTYTVNETYTTSVKPVSVQLNSMLCP    211 - 280
APILNKAGETLDVSVSFNGGKSVISGSLIVTATECSNGIAAIIVILVLLLLLGIGLMWWFWPLCCKVVIK    281 - 350
DPPPPPAPAPKEEEEEPLPTKKWPTVDASYYGGRGVGGIKRMEVRWGDKGSTEEGARLEKAKNAVVKIPE    351 - 420
ETEEPIRPRPPRPKPTHQPPQTKWYTPIKGRLDALWALLRRQYDRVSLMRPQEGDEVCIWECIEKELTA     421 - 489
//

Text Mined References (50)

PMID Year Title
26805886 2016 Roles of Anthrax Toxin Receptor 2 in Anthrax Toxin Membrane Insertion and Pore Formation.
26703731 2015 Anthrax Susceptibility: Human Genetic Polymorphisms Modulating ANTXR2 Expression.
26107617 2015 The Disulfide Bond Cys255-Cys279 in the Immunoglobulin-Like Domain of Anthrax Toxin Receptor 2 Is Required for Membrane Insertion of Anthrax Protective Antigen Pore.
25781883 2015 Differential dependence on N-glycosylation of anthrax toxin receptors CMG2 and TEM8.
25736362 2015 MicroRNA-124 involves in ankylosing spondylitis by targeting ANTXR2.
25169729 2014 Ankylosing spondylitis is associated with the anthrax toxin receptor 2 gene (ANTXR2).
24993339 2014 Therapeutic potential of capillary morphogenesis gene 2 extracellular vWA domain in tumour?related angiogenesis.
24924630 2014 Cholesterol depletion induces ANTXR2-dependent activation of MMP-2 via ERK1/2 phosphorylation in neuroglioma U251 cell.
24742682 2014 Targeted silencing of anthrax toxin receptors protects against anthrax toxins.
24739539 2014 ANTXR2 is a potential causative gene in the genome-wide association study of the blood pressure locus 4q21.
24667935 2014 Capillary morphogenesis gene 2 inhibits growth of breast cancer cells and is inversely correlated with the disease progression and prognosis.
24641616 2014 A protective antigen mutation increases the pH threshold of anthrax toxin receptor 2-mediated pore formation.
24380801 2014 Expression and purification of the functional ectodomain of human anthrax toxin receptor 2 in Escherichia coli Origami B cells with assistance of bacterial Trigger Factor.
22855243 2012 pH effects on binding between the anthrax protective antigen and the host cellular receptor CMG2.
22383261 2012 Identification of 2 novel ANTXR2 mutations in patients with hyaline fibromatosis syndrome and proposal of a modified grading system.
22315420 2012 Human genetic variation altering anthrax toxin sensitivity.
22118297 2012 Association of the ANTXR2 gene polymorphism and ankylosing spondylitis in Chinese Han.
21743469 2011 Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates peptide handling in the mechanism for HLA-B27 in disease susceptibility.
21328543 2011 Hyaline fibromatosis syndrome inducing mutations in the ectodomain of anthrax toxin receptor 2 can be rescued by proteasome inhibitors.
21041274 2011 Genetic studies of ankylosing spondylitis in Koreans confirm associations with ERAP1 and 2p15 reported in white patients.
20652271 2012 ANTXR2 and IL-1R2 polymorphisms are not associated with ankylosing spondylitis in Chinese Han population.
20331448 2010 Spectrum of mutations in the ANTXR2 (CMG2) gene in infantile systemic hyalinosis and juvenile hyaline fibromatosis.
20062062 2010 Genome-wide association study of ankylosing spondylitis identifies non-MHC susceptibility loci.
19858192 2010 Cathepsin B-mediated autophagy flux facilitates the anthrax toxin receptor 2-mediated delivery of anthrax lethal factor into the cytoplasm.
19690332 2009 Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.
19240061 2009 Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.
19191226 2009 Systemic hyalinosis mutations in the CMG2 ectodomain leading to loss of function through retention in the endoplasmic reticulum.
17974005 2007 The full-ORF clone resource of the German cDNA Consortium.
17183731 2006 Divalent metal ion coordination by residue T118 of anthrax toxin receptor 2 is not essential for protective antigen binding.
16564009 2006 The LDL receptor-related protein LRP6 mediates internalization and lethality of anthrax toxin.
16473908 2006 Onset of anthrax toxin pore formation.
16401723 2006 Receptor palmitoylation and ubiquitination regulate anthrax toxin endocytosis.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15815621 2005 Generation and annotation of the DNA sequences of human chromosomes 2 and 4.
15725249 2005 Capillary morphogenesis gene-2 mutation in infantile systemic hyalinosis: ultrastructural study and mutation analysis in a Taiwanese infant.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15337774 2004 Membrane insertion of anthrax protective antigen and cytoplasmic delivery of lethal factor occur at different stages of the endocytic pathway.
15326297 2004 Structure of heptameric protective antigen bound to an anthrax toxin receptor: a role for receptor in pH-dependent pore formation.
15243628 2004 Crystal structure of a complex between anthrax toxin and its host cell receptor.
15231748 2004 Functional proteomics mapping of a human signaling pathway.
15079089 2004 Crystal structure of the von Willebrand factor A domain of human capillary morphogenesis protein 2: an anthrax toxin receptor.
15044490 2004 Binding stoichiometry and kinetics of the interaction of a human anthrax toxin receptor, CMG2, with protective antigen.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14508707 2003 Mutations in the gene encoding capillary morphogenesis protein 2 cause juvenile hyaline fibromatosis and infantile systemic hyalinosis.
12973667 2003 Mutations in capillary morphogenesis gene-2 result in the allelic disorders juvenile hyaline fibromatosis and infantile systemic hyalinosis.
12700348 2003 Human capillary morphogenesis protein 2 functions as an anthrax toxin receptor.
12551953 2003 Anthrax toxin triggers endocytosis of its receptor via a lipid raft-mediated clathrin-dependent process.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11683410 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.
9847074 1998 Toward a complete human genome sequence.