Reviewed December 2008
What is the official name of the ANTXR2 gene?
The official name of this gene is “anthrax toxin receptor 2.”
ANTXR2 is the gene's official symbol. The ANTXR2 gene is also known by other names, listed below.
What is the normal function of the ANTXR2 gene?
The ANTXR2 gene provides instructions for making a protein called anthrax toxin receptor 2 (ANTXR2). This protein is involved in the formation of tiny blood vessels (capillaries). Researchers believe that the ANTXR2 protein is also important for maintaining the structure of basement membranes, which are thin, sheet-like structures that separate and support cells in many tissues. This protein is called anthrax toxin receptor 2 because it allows the toxin that causes anthrax to attach to cells and trigger disease.
How are changes in the ANTXR2 gene related to health conditions?
- infantile systemic hyalinosis - caused by mutations in the ANTXR2 gene
At least 10 mutations in the ANTXR2 gene have been shown to cause infantile systemic hyalinosis. These mutations most likely disrupt the formation of basement membranes, allowing a clear (hyaline) substance to leak through and accumulate in various parts of the body.
- juvenile hyaline fibromatosis - caused by mutations in the ANTXR2 gene
Approximately 10 mutations in the ANTXR2 gene have been shown to cause juvenile hyaline fibromatosis. These mutations also lead to the production of an abnormally functioning ANTXR2 protein that is believed to disrupt basement membrane formation.
It is not known why some mutations in this gene cause infantile systemic hyalinosis and others cause the less severe juvenile hyaline fibromatosis. Some research has shown that the mutations responsible for these two diseases tend to occur in different regions of the gene.
Where is the ANTXR2 gene located?
Cytogenetic Location: 4q21.21
Molecular Location on chromosome 4: base pairs 79,901,617 to 80,073,472
(Homo sapiens Annotation Release 107, GRCh38.p2) (NCBI (http://www.ncbi.nlm.nih.gov/gene/118429))
The ANTXR2 gene is located on the long (q) arm of chromosome 4 at position 21.21.
More precisely, the ANTXR2 gene is located from base pair 79,901,617 to base pair 80,073,472 on chromosome 4.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
Where can I find additional information about ANTXR2?
You and your healthcare professional may find the following resources about ANTXR2 helpful.
- Gene Reviews - Clinical summary (http://www.ncbi.nlm.nih.gov/books/NBK1525)
Genetic Testing Registry - Repository of genetic test information
- GTR: Genetic tests for ANTXR2 (http://www.ncbi.nlm.nih.gov/gtr/tests/?term=118429%5Bgeneid%5D)
You may also be interested in these resources, which are designed for genetics professionals and researchers.
- PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/pubmed?term=%28%28ANTXR2%5BTIAB%5D%29%20OR%20%28anthrax%20toxin%20receptor%202%5BTIAB%5D%29%29%20OR%20%28%28CMG2%5BTIAB%5D%29%20OR%20%28CMG-2%5BTIAB%5D%29%20OR%20%28capillary%20morphogenesis%20protein%202%5BTIAB%5D%29%29%20AND%20%28%28Genes%5BMH%5D%29%20OR%20%28Genetic%20Phenomena%5BMH%5D%29%29%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%20720%20days%22%5Bdp%5D)
- OMIM - Genetic disorder catalog (http://omim.org/entry/608041)
Research Resources - Tools for researchers
- Atlas of Genetics and Cytogenetics in Oncology and Haematology (http://atlasgeneticsoncology.org/Genes/GC_ANTXR2.html)
- HGNC Gene Symbol Report (http://www.genenames.org/cgi-bin/gene_symbol_report?q=data/hgnc_data.php&hgnc_id=21732)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/118429)
What other names do people use for the ANTXR2 gene or gene products?
- capillary morphogenesis protein 2
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
What glossary definitions help with understanding ANTXR2?
basement membrane ;
basement membranes ;
You may find definitions for these and many other terms in the Genetics Home Reference
- Antaya RJ, Cajaiba MM, Madri J, Lopez MA, Ramirez MC, Martignetti JA, Reyes-Múgica M. Juvenile hyaline fibromatosis and infantile systemic hyalinosis overlap associated with a novel mutation in capillary morphogenesis protein-2 gene. Am J Dermatopathol. 2007 Feb;29(1):99-103. (http://www.ncbi.nlm.nih.gov/pubmed/17284973?dopt=Abstract)
- OMIM: ANTHRAX TOXIN RECEPTOR 2 (http://omim.org/entry/608041)
- Dowling O, Difeo A, Ramirez MC, Tukel T, Narla G, Bonafe L, Kayserili H, Yuksel-Apak M, Paller AS, Norton K, Teebi AS, Grum-Tokars V, Martin GS, Davis GE, Glucksman MJ, Martignetti JA. Mutations in capillary morphogenesis gene-2 result in the allelic disorders juvenile hyaline fibromatosis and infantile systemic hyalinosis. Am J Hum Genet. 2003 Oct;73(4):957-66. Epub 2003 Sep 12. (http://www.ncbi.nlm.nih.gov/pubmed/12973667?dopt=Abstract)
- Gene Review: Hyalinosis, Inherited Systemic (http://www.ncbi.nlm.nih.gov/books/NBK1525)
- Hanks S, Adams S, Douglas J, Arbour L, Atherton DJ, Balci S, Bode H, Campbell ME, Feingold M, Keser G, Kleijer W, Mancini G, McGrath JA, Muntoni F, Nanda A, Teare MD, Warman M, Pope FM, Superti-Furga A, Futreal PA, Rahman N. Mutations in the gene encoding capillary morphogenesis protein 2 cause juvenile hyaline fibromatosis and infantile systemic hyalinosis. Am J Hum Genet. 2003 Oct;73(4):791-800. Epub 2003 Aug 21. (http://www.ncbi.nlm.nih.gov/pubmed/14508707?dopt=Abstract)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/118429)
- Rahman N, Dunstan M, Teare MD, Hanks S, Edkins SJ, Hughes J, Bignell GR, Mancini G, Kleijer W, Campbell M, Keser G, Black C, Williams N, Arbour L, Warman M, Superti-Furga A, Futreal PA, Pope FM. The gene for juvenile hyaline fibromatosis maps to chromosome 4q21. Am J Hum Genet. 2002 Oct;71(4):975-80. Epub 2002 Sep 4. (http://www.ncbi.nlm.nih.gov/pubmed/12214284?dopt=Abstract)
The resources on this site should not be used as a substitute for
professional medical care or advice. Users seeking information about
a personal genetic disease, syndrome, or condition should consult with a qualified
See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.