GENE REFERENCE / HGNC:6909

MATN3

matrilin 3

protein-coding gene2p24.1Gene information

What does this gene do?

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.

Source: MedlinePlus, National Library of Medicine. Source publication: 2020-08-18. Source review: 2008-02.

ClinGen reviews

We found no matching ClinGen review in the data used here. This does not rule out a link between the gene and a condition.

ClinVar records

These numbers show what has been submitted to ClinVar. They cannot tell you how likely you are to have a condition.

Submitted alleles: 422
Submissions for variants in or overlapping this gene: 658
Submissions explicitly reporting this gene: 624
Alleles reported pathogenic / likely pathogenic: 16
VariationIDs with uncertain significance: 238
VariationIDs with conflicting classifications: 24

The rows count different things: alleles, submissions or VariationIDs. Their categories can overlap, so do not add them together. Pathogenic/likely pathogenic counts exclude structural variants that merely overlap a gene. A dash in the source means “not reported,” not zero.

NCBI produces the gene-summary file each week using counts recorded at the start of the month. The numbers may differ from those on the live ClinVar website. Read the field definitions ↗

View this gene in ClinVar ↗

YOUR DNA FILE

Can your DNA file tell you about MATN3?

From a DNA test kit (such as 23andMe, AncestryDNA or MyHeritage). These kits check a fixed list of about 600,000 to 700,000 positions across your whole genome. ClinVar lists 16 alleles in MATN3 reported as pathogenic or likely pathogenic. A kit checks only some of these positions, and often none of them.

From whole genome sequencing (a VCF file). Sequencing reads most of your genome. Your file lists the places where your DNA differs from the reference genome. Some regions are hard to sequence, including parts of some genes that have near-identical copies elsewhere, and a VCF file does not record which positions were read well.

If a variant is not in your file, that does not mean you don’t have it.

What BioDecode checks

BioDecode compares every variant in your file with ClinVar, on your own computer. For each match, it shows the ClinVar classification, the review status and the condition it was reported for. Your file is not uploaded.

A ClinVar classification applies to one particular variant and the condition it was reported for. It does not tell you about other variants in MATN3.

BioDecode cannot fill gaps in your test, diagnose a condition or replace clinical testing.

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