| Function |
Necessary for cellular interactions with laminin and the extracellular matrix. |
| Gene References into Functions |
- A decreased CMG2 expression is a negative prognostic factor for soft tissue sarcoma patients. PMID: 29215551
- Results identified Gly116Val mutation in ANTXR2 associated with hyaline fibromatosis syndrome. PMID: 28103792
- Stability of domain 4 of the anthrax toxin protective antigen and the effect of the VWA domain of CMG2 on stability PMID: 27874231
- study examines 4 cases with clinical features of hyaline fibromatosis syndrome; identified a previously unreported splice junction mutation (c.946-2A-->G in intron 11) and a recurrent founder mutation ( c.1074delT) PMID: 27174544
- This study reports a novel association between ANTXR2 and ankylosing spondylitis in the Han Chinese. PMID: 26728147
- Case Report: systemic hyalinosis with a heterozygous mutation in CMG2. PMID: 26885603
- The association between ANTXR2 rs4333130 and ankylosing spondylitis was independent of HLA-B27 status. Clinical disease severity scores (BASDAI and BASFI) and pain score were higher in ANTXR2 rs4333130 CT genotype. PMID: 26590821
- Roles of Anthrax Toxin Receptor 2 in Anthrax Toxin Membrane Insertion and Pore Formation PMID: 26805886
- Anthrax Susceptibility: Human Genetic Polymorphisms Modulating ANTXR2 Expression PMID: 26703731
- miR-124 might induce autophagy to participate in AS by targeting ANTXR2, which might be implicated in pathological process of AS. PMID: 25736362
- The disulfide bond Cys255-Cys279 in the immunoglobulin-like domain of ANTXR2 is required for membrane insertion of anthrax protective antigen pore. PMID: 26107617
- CMG2 glycosylation provides a buffer towards genetic variation by promoting folding of the protein in the ER lumen. PMID: 25781883
- Results show that CMG2 has been shown to be able to regulate the proliferation and tubule formation of endothelial cells, but not the migration. PMID: 24993339
- Ankylosing spondylitis is associated with the anthrax toxin receptor 2 gene. PMID: 25169729
- data suggested that cellular cholesterol regulated ANTXR2-dependent activation of MMP-2 via ERK1/2 phosphorylation in neuroglioma U251 cell. PMID: 24924630
- 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. PMID: 24380801
- Silencing CMG2 using targeted siRNAs provided almost complete protection against anthrax lethal toxin-induced cytotoxicity and death in murine and human macrophages. PMID: 24742682
- Loss of CMG2 expression is associated with breast cancer progression. PMID: 24667935
- A protective antigen mutation increases the pH threshold of anthrax toxin receptor 2-mediated pore formation PMID: 24641616
- 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. PMID: 22855243
- 2 novel ANTXR2 mutations were identified in patients with hyaline fibromatosis syndrome PMID: 22383261
- ANTXR2 and IL-1R2 polymorphisms are not associated with ankylosing spondylitis in Chinese Han population. PMID: 20652271
- 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 PMID: 22315420
- ANTXR2 might not be a susceptibility gene of Ankylosing Spondylitis in Chinese Han. PMID: 22118297
- Missense mutations in the extracellular von Willebrand domain of CMG2 lead to protein folding defects. PMID: 21328543
- the molecular basis (spectrum of ANTXR2 mutations) of infantile systemic hyalinosis and juvenile hyaline fibromatosis in two unrelated Egyptian families PMID: 20331448
- Divalent metal ion coordination by residue T118 of anthrax toxin receptor 2 is not essential for protective antigen binding. PMID: 17183731
- Cytoplasmic delivery of lethal factor by anthrax toxin receptor 2 was mediated by cathepsin B. PMID: 19858192
- identification and characterization of juvenile hyaline fibromatosis and infantile systemic hyalinosis disease-causing mutations in the capillary morphogenesis factor-2 gene PMID: 12973667
- identification of 15 different mutations in the gene encoding capillary morphogenesis protein 2 in 17 families with juvenile hyaline fibromatosis or infantile systemic hyalinosis PMID: 14508707
- 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 PMID: 15079089
- crystal structure of the complex with anthrax toxin PMID: 15243628
- Molecular dynamics simulations explain the great strength that the protective antigen-capillary morphogenesis gene 2 complex achieves through extraordinary coordination of a divalent cation. PMID: 16473908
- 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. PMID: 19191226
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|
| Involvement in disease |
Hyaline fibromatosis syndrome (HFS) |
| Subcellular Location |
Isoform 1: Cell membrane, Single-pass type I membrane protein, Note=Expressed at the cell surface, SUBCELLULAR LOCATION: Isoform 2: Endoplasmic reticulum membrane, Single-pass type I membrane protein |
| Protein Families |
ATR family |
| Tissue Specificity |
Expressed in prostate, thymus, ovary, testis, pancreas, colon, heart, kidney, lung, liver, peripheral blood leukocytes, placenta, skeletal muscle, small intestine and spleen. |
| Database Links |
HGNC: 21732 OMIM: 228600 KEGG: hsa:118429 STRING: 9606.ENSP00000306185 UniGene: Hs.162963 |
