Skip Navigation
Genetics Home Reference: your guide to understanding genetic conditions     A service of the U.S. National Library of Medicine®


Reviewed February 2008

What is the official name of the MATN3 gene?

The official name of this gene is “matrilin 3.”

MATN3 is the gene's official symbol. The MATN3 gene is also known by other names, listed below.

What is the normal function of the MATN3 gene?

The MATN3 gene provides the instructions for making a protein called matrilin-3. This protein is found in the extracellular matrix, which is an intricate lattice of proteins and other molecules that forms in the spaces between cells. Specifically, matrilin-3 is located in the extracellular matrix surrounding the cells that make up ligaments and tendons, and near cartilage-forming cells (chondrocytes). Chondrocytes play an important role in bone formation (osteogenesis). In the bones of the spine, hips, and limbs, the process of osteogenesis starts with the formation of cartilage, which is then converted into bone.

The normal function of the MATN3 gene is not fully understood; however, research suggests that matrilin-3 may play a role in the organization of collagen and other cartilage proteins. Collagens are proteins that provide strength and support to many body tissues, including cartilage. Matrilin-3 has been shown to interact with the COMP protein, type II collagen, and type IX collagen, which are all important in cartilage and bone formation.

How are changes in the MATN3 gene related to health conditions?

multiple epiphyseal dysplasia - caused by mutations in the MATN3 gene

At least 14 different mutations in the MATN3 gene have been shown to cause a mild form of multiple epiphyseal dysplasia. All of the mutations change one protein building block (amino acid) within or close to a region of matrilin-3 called the A-domain. One genetic change accounts for approximately 40 percent of all MATN3 mutations. This mutation replaces the amino acid arginine with the amino acid tryptophan at position 121 (written as Arg121Trp or R121W).

Researchers believe that mutations in the MATN3 gene prevent matrilin-3 from folding properly. Instead of being transported to the extracellular matrix of the chondrocytes, matrilin-3 remains in the endoplasmic reticulum. The endoplasmic reticulum is a structure inside the cell that is involved in protein processing and transport. This cell structure eventually becomes so large that it is no longer able to function normally, and the chondrocyte dies. The premature death of chondrocytes results in diminished growth of the long bones and short stature.

Where is the MATN3 gene located?

Cytogenetic Location: 2p24-p23

Molecular Location on chromosome 2: base pairs 19,992,052 to 20,012,694

(Homo sapiens Annotation Release 107, GRCh38.p2) (NCBI (

The MATN3 gene is located on the short (p) arm of chromosome 2 between positions 24 and 23.

The MATN3 gene is located on the short (p) arm of chromosome 2 between positions 24 and 23.

More precisely, the MATN3 gene is located from base pair 19,992,052 to base pair 20,012,694 on chromosome 2.

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

Where can I find additional information about MATN3?

You and your healthcare professional may find the following resources about MATN3 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 MATN3 gene or gene products?

  • EDM5

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

What glossary definitions help with understanding MATN3?

amino acid ; arginine ; bone formation ; cartilage ; cell ; chondrocyte ; collagen ; domain ; dysplasia ; endoplasmic reticulum ; extracellular ; extracellular matrix ; gene ; mutation ; osteogenesis ; protein ; short stature ; stature ; tryptophan

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


  • Briggs MD, Chapman KL. Pseudoachondroplasia and multiple epiphyseal dysplasia: mutation review, molecular interactions, and genotype to phenotype correlations. Hum Mutat. 2002 May;19(5):465-78. Review. (
  • Fresquet M, Jackson GC, Loughlin J, Briggs MD. Novel mutations in exon 2 of MATN3 affect residues within the alpha-helices of the A-domain and can result in the intracellular retention of mutant matrilin-3. Hum Mutat. 2008 Feb;29(2):330. doi: 10.1002/humu.9518. (
  • Fresquet M, Jowitt TA, Ylöstalo J, Coffey P, Meadows RS, Ala-Kokko L, Thornton DJ, Briggs MD. Structural and functional characterization of recombinant matrilin-3 A-domain and implications for human genetic bone diseases. J Biol Chem. 2007 Nov 30;282(48):34634-43. Epub 2007 Sep 18. (
  • Gene Review: Multiple Epiphyseal Dysplasia, Dominant (
  • NCBI Gene (
  • Nicolae C, Ko YP, Miosge N, Niehoff A, Studer D, Enggist L, Hunziker EB, Paulsson M, Wagener R, Aszodi A. Abnormal collagen fibrils in cartilage of matrilin-1/matrilin-3-deficient mice. J Biol Chem. 2007 Jul 27;282(30):22163-75. Epub 2007 May 14. (


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: February 2008
Published: February 8, 2016