Skip Navigation
Genetics Home Reference: your guide to understanding genetic conditions About   Site Map   Contact Us
Home A service of the U.S. National Library of Medicine®
Printer-friendly version


Reviewed November 2011

What is the official name of the MATR3 gene?

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

MATR3 is the gene's official symbol. The MATR3 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 MATR3 gene?

The MATR3 gene provides instructions for making a protein called matrin 3, which is found in the nucleus of the cell as part of the nuclear matrix. The nuclear matrix is a network of proteins that provides structural support for the nucleus and aids in several important nuclear functions.

The function of the matrin 3 protein is unknown. This protein can attach to (bind) RNA, which is a chemical cousin of DNA. Some studies indicate that matrin 3 binds and stabilizes a type of RNA called messenger RNA (mRNA), which provides the genetic blueprint for proteins. Matrin 3 may also bind certain abnormal RNAs that could lead to nonfunctional or harmful proteins, thereby blocking the formation of such proteins. Other studies suggest that the matrin 3 protein may be involved in cell survival.

How are changes in the MATR3 gene related to health conditions?

distal myopathy 2 - caused by mutations in the MATR3 gene

At least one mutation in the MATR3 gene has been identified in people with distal myopathy 2, a condition characterized by muscle and vocal cord weakness. The MATR3 gene mutation associated with distal myopathy 2 changes a single protein building block (amino acid) in the matrin 3 protein. This mutation, known as Ser85Cys (or S85C), replaces the amino acid serine with the amino acid cysteine at position 85 of the protein.

The effect of the S85C mutation on the function of the matrin 3 protein is unknown, although one study indicates that the mutation may change the location of the protein in the nucleus. Researchers are working to determine how this gene mutation leads to the signs and symptoms of distal myopathy 2.

Where is the MATR3 gene located?

Cytogenetic Location: 5q31.2

Molecular Location on chromosome 5: base pairs 139,273,752 to 139,331,677

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

The MATR3 gene is located on the long (q) arm of chromosome 5 at position 31.2.

The MATR3 gene is located on the long (q) arm of chromosome 5 at position 31.2.

More precisely, the MATR3 gene is located from base pair 139,273,752 to base pair 139,331,677 on chromosome 5.

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

Where can I find additional information about MATR3?

You and your healthcare professional may find the following resources about MATR3 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 MATR3 gene or gene products?

  • matrin-3
  • matrin-3 isoform a
  • matrin-3 isoform b
  • MGC9105
  • MPD2

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 MATR3?

amino acid ; cell ; cysteine ; distal ; DNA ; gene ; messenger RNA ; mRNA ; mutation ; nucleus ; protein ; RNA ; serine

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: November 2011
Published: February 8, 2016