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ANTXR2

ANTXR2

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.

Read more about gene names and symbols on the About page.

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 79,901,616 to 80,073,471

The ANTXR2 gene is located on the long (q) arm of chromosome 4 at position 21.21.

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 79,901,616 to base pair 80,073,471 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.

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

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

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding ANTXR2?

basement membrane ; basement membranes ; capillaries ; gene ; juvenile ; protein ; receptor ; toxin

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

See also Understanding Medical Terminology.

References (7 links)

 

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 healthcare professional. See How can I find a genetics professional in my area? in the Handbook.

 
Reviewed: December 2008
Published: December 16, 2014