Anthrax toxin receptor 2 (ANTXR2)

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 81,045,748 to 81,213,276

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 81,045,748 to base pair 81,213,276 on chromosome 4.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about ANTXR2?

You and your healthcare professional may find the following resources about ANTXR2 helpful.

• MedlinePlus - Health information
• Encyclopedia: Anthrax
• Gene Reviews - Clinical summary

You may also be interested in these resources, which are designed for genetics professionals and researchers.

• PubMed - Recent literature
• OMIM - Genetic disorder catalog
• Research Resources - Tools for researchers (3 links)

What other names do people use for the ANTXR2 gene or gene products?

• ANTR2_HUMAN
• capillary morphogenesis protein 2
• CMG2
• CMG-2
• FLJ31074
• ISH
• JHF
• MGC111533
• MGC45856

See How are genetic conditions and genes named? in the Handbook.

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.

• What is DNA?
• What is a gene?
• How do genes direct the production of proteins?
• How can gene mutations affect health and development?

These links provide additional genetics resources that may be useful.

• Genetics education
• Human Genome Project
• Resources for Genetic Researchers

What glossary definitions help with understanding ANTXR2?

capillaries ; cell ; gene ; juvenile ; mutation ; protein ; receptor ; tissue ; toxin

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.

References

These sources were used to develop the Genetics Home Reference gene summary on the ANTXR2 gene.

• 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. PubMed citation
• 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. PubMed citation
• Gene Review: Hyalinosis, Inherited Systemic
• 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. PubMed citation
• OMIM
• 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. PubMed citation