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Reviewed October 2012

What is the official name of the EXT2 gene?

The official name of this gene is “exostosin glycosyltransferase 2.”

EXT2 is the gene's official symbol. The EXT2 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 EXT2 gene?

The EXT2 gene provides instructions for producing a protein called exostosin-2. This protein is found in a cell structure called the Golgi apparatus, which modifies newly produced enzymes and other proteins. In the Golgi apparatus, exostosin-2 attaches (binds) to another protein, exostosin-1, to form a complex that modifies a protein called heparan sulfate so it can be used in the body. Heparan sulfate is involved in regulating a variety of body processes including the formation of blood vessels (angiogenesis) and blood clotting. It also has a role in the spreading (metastasis) of cancer cells.

How are changes in the EXT2 gene related to health conditions?

hereditary multiple exostoses - caused by mutations in the EXT2 gene

More than 90 mutations in the EXT2 gene have been identified in people with hereditary multiple exostoses type 2, a condition in which people develop multiple benign (noncancerous) bone tumors called exostoses. Most of these mutations prevent any functional exostosin-2 protein from being made, and are called "loss-of-function" mutations. The loss of exostosin-2 protein function prevents it from forming a complex with the exostosin-1 protein and modifying heparan sulfate. It is unclear how this impairment leads to the signs and symptoms of hereditary multiple exostoses.

Potocki-Shaffer syndrome - caused by mutations in the EXT2 gene

A mutation resulting in the deletion of the EXT2 gene causes a condition called Potocki-Shaffer syndrome. People with this condition have multiple exostoses (described above) and enlarged openings in two bones that make up much of the top and sides of the skull (enlarged parietal foramina). Other signs and symptoms seen in some people with Potocki-Shaffer syndrome include intellectual disability, developmental delay, distinctive facial features, vision problems, and defects in the heart, kidneys, and urinary tract.

Potocki-Shaffer syndrome (sometimes referred to as proximal 11p deletion syndrome) is caused by a deletion of genetic material from the short (p) arm of chromosome 11. In people with this condition, a loss of the EXT2 gene within this region is responsible for multiple exostoses. The deletion likely leads to a reduction of exostosin-2 protein and the inability to process heparan sulfate correctly. Although heparan sulfate is involved in many body processes, it is unclear how the lack of this protein causes multiple exostoses. The loss of another gene, ALX4, in the same region of chromosome 11 underlies the defects in skull development. The loss of additional genes in the deleted region likely contributes to the other features of Potocki-Shaffer syndrome.

Where is the EXT2 gene located?

Cytogenetic Location: 11p12-p11

Molecular Location on chromosome 11: base pairs 44,095,549 to 44,245,430

(Homo sapiens Annotation Release 107, GRCh38.p2) (NCBIThis link leads to a site outside Genetics Home Reference.)

The EXT2 gene is located on the short (p) arm of chromosome 11 between positions 12 and 11.

The EXT2 gene is located on the short (p) arm of chromosome 11 between positions 12 and 11.

More precisely, the EXT2 gene is located from base pair 44,095,549 to base pair 44,245,430 on chromosome 11.

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

Where can I find additional information about EXT2?

You and your healthcare professional may find the following resources about EXT2 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 EXT2 gene or gene products?

  • exostoses (multiple) 2
  • exostosin 2
  • Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase
  • N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase
  • SOTV

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 EXT2?

angiogenesis ; benign ; blood clotting ; cancer ; cell ; chromosome ; clotting ; deletion ; developmental delay ; disability ; exostoses ; gene ; Golgi apparatus ; heparan sulfate ; hereditary ; metastasis ; mutation ; protein ; proteoglycan ; proximal ; sulfate ; syndrome

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

See also Understanding Medical Terminology.

References (11 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: October 2012
Published: February 8, 2016