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Reviewed June 2014

What is the official name of the FREM2 gene?

The official name of this gene is “FRAS1 related extracellular matrix protein 2.”

FREM2 is the gene's official symbol. The FREM2 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 FREM2 gene?

The FREM2 gene provides instructions for making a protein that is part of a group of proteins called the FRAS/FREM complex; in addition to being part of the complex, FREM2 regulates the complex's formation. The FRAS/FREM complex is found in basement membranes, which are thin, sheet-like structures that separate and support cells in many tissues. The complex is particularly important during development before birth. One of its roles is to anchor the top layer of skin by connecting the basement membrane of the top layer to the layer of skin below. The FRAS/FREM complex is also involved in the proper development of certain other organs and tissues, including the kidneys, although the mechanism is unclear.

How are changes in the FREM2 gene related to health conditions?

Fraser syndrome - caused by mutations in the FREM2 gene

At least two mutations in the FREM2 gene have been found to cause Fraser syndrome; these mutations are involved in a small percentage of cases of this condition. Fraser syndrome affects development before birth and is characterized by eyes that are completely covered by skin (cryptophthalmos), fusion of the skin between the fingers and toes (cutaneous syndactyly), and abnormalities of the kidneys and other organs and tissues.

FREM2 gene mutations involved in Fraser syndrome lead to production of an abnormal FREM2 protein that likely does not function properly. As a result, the FRAS/FREM complex cannot form. Lack of the FRAS/FREM complex in the basement membrane of skin leads to detachment of the top layer of skin, causing blisters to form during development. These blisters likely prevent the proper formation of certain structures before birth, leading to cryptophthalmos and cutaneous syndactyly. It is unknown how lack of the FRAS/FREM complex leads to kidney abnormalities and other problems in Fraser syndrome.

other disorders - associated with the FREM2 gene

Mutations in the FREM2 gene have also been found in people with abnormalities of the kidneys and urinary tract but no other signs and symptoms of Fraser syndrome (described above). Such abnormalities are grouped together as congenital anomalies of the kidney and urinary tract (CAKUT). The FREM2 gene mutations involved in CAKUT typically change single protein building blocks (amino acids) in the FREM2 protein. Researchers speculate that the effects of these mutations are milder than those of mutations that cause Fraser syndrome; some FREM2 protein function may still remain. How these gene mutations affect the FRAS/FREM complex or lead to renal agenesis and other CAKUT is unknown.

Where is the FREM2 gene located?

Cytogenetic Location: 13q13.3

Molecular Location on chromosome 13: base pairs 38,687,036 to 38,887,131

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

The FREM2 gene is located on the long (q) arm of chromosome 13 at position 13.3.

The FREM2 gene is located on the long (q) arm of chromosome 13 at position 13.3.

More precisely, the FREM2 gene is located from base pair 38,687,036 to base pair 38,887,131 on chromosome 13.

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

Where can I find additional information about FREM2?

You and your healthcare professional may find the following resources about FREM2 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 FREM2 gene or gene products?

  • DKFZp686J0811
  • ECM3 homolog
  • FRAS1-related extracellular matrix protein 2

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 FREM2?

acids ; agenesis ; basement membrane ; basement membranes ; congenital ; cutaneous ; extracellular ; extracellular matrix ; gene ; kidney ; protein ; renal ; syndactyly ; syndrome

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

See also Understanding Medical Terminology.

References (8 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: June 2014
Published: February 1, 2016