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) [1] Band 4q21.21 Start 79,901,146 bp [1] End 80,125,454 bp [1]
Gene location ( Mouse) Chr. Chromosome 5 (mouse) [2] Band 5|5 E3 Start 98,030,642 bp [2] End 98,178,902 bp [2]
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 [3] [4]
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. ^{[5] [6] [7]}

Mutations in ANTXR2 are associated with infantile systemic hyalinosis ^{[8] [9]} and juvenile systemic hyalinosis, both autosomal recessive disorders. ^{[10] [11]} Biallelic missense mutations of ANTXR2 have been described in a case report of atypical infantile systemic hyalinosis with intestinal lymphangiectasia causing protein-losing enteropathy. ^{[12] [13]} 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. ^[8]

• Anthrax toxin

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

This article on a gene on human chromosome 4 is a stub. You can help Wikipedia by expanding it.

• v
• t
• e