Gene: ANTXR2

Alternate names for this Gene: CMG-2|CMG2|HFS|ISH|JHF

Gene Summary: This gene encodes a 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.

Gene is located in Chromosome: 4

Location in Chromosome : 4q21.21

Description of this Gene: ANTXR cell adhesion molecule 2

Type of Gene: protein-coding

rs11098964 in ANTXR2 gene and Ankylosing spondylitis PMID 26974007 2016 Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.

PMID 20062062 2010 Genome-wide association study of ankylosing spondylitis identifies non-MHC susceptibility loci.

PMID 21743469 2011 Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates peptide handling in the mechanism for HLA-B27 in disease susceptibility.

rs11098964 in ANTXR2 gene and Cholangitis, Sclerosing PMID 26974007 2016 Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.

rs11098964 in ANTXR2 gene and Crohn Disease PMID 26974007 2016 Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.

rs66968950 in ANTXR2 gene and Eosinophil count procedure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs137852901 in ANTXR2 gene and Hyalinosis, Systemic PMID 15725249 2005 Capillary morphogenesis gene-2 mutation in infantile systemic hyalinosis: ultrastructural study and mutation analysis in a Taiwanese infant.

PMID 14508707 2003 Mutations in the gene encoding capillary morphogenesis protein 2 cause juvenile hyaline fibromatosis and infantile systemic hyalinosis.

PMID 12973667 2003 Mutations in capillary morphogenesis gene-2 result in the allelic disorders juvenile hyaline fibromatosis and infantile systemic hyalinosis.

PMID 12973667 2003 The JHF family-specific homoallelic missense mutation G105D destabilizes a von Willebrand factor A extracellular domain alpha-helix, whereas the other mutation, L329R, occurs within the transmembrane domain of the protein.

PMID 12973667 2003 The JHF family-specific homoallelic missense mutation G105D destabilizes a von Willebrand factor A extracellular domain alpha-helix, whereas the other mutation, L329R, occurs within the transmembrane domain of the protein.

PMID 12973667 2003 An ISH compound mutation, I189T, is predicted to create a novel and destabilizing internal cavity within the protein.

PMID 23386947 2013 Infantile systemic hyalinosis: a case report with a novel mutation.

PMID 26633545 2016 Molecular diagnostic experience of whole-exome sequencing in adult patients.

rs12504282 in ANTXR2 gene and Lymphocyte Count measurement PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs4234848 in ANTXR2 gene and Narcolepsy PMID 19629137 2009 Genome-wide association database developed in the Japanese Integrated Database Project.

rs11098964 in ANTXR2 gene and Psoriasis PMID 26974007 2016 Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.

rs11098964 in ANTXR2 gene and Ulcerative Colitis PMID 26974007 2016 Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.

rs12499307 in ANTXR2 gene and White Blood Cell Count procedure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.