MATN3 Chromosome 2
Matrilin 3
Upload your DNA to see your personal genotypes for variants in MATN3.
What This Gene Does
This gene encodes a member of von Willebrand factor A domain containing protein family. This family of proteins is thought to be involved in the formation of filamentous networks in the extracellular matrices of various tissues. This protein contains two von Willebrand factor A domains; it is present in the cartilage extracellular matrix and has a role in the development and homeostasis of cartilage and bone. Mutations in this gene result in multiple epiphyseal dysplasia. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Matrilins
Locus Type
gene with protein product
Location
2p24.1
Ensembl
ENSG00000132031
Associated Conditions (8)
Inborn genetic diseases
Multiple epiphyseal dysplasia type 5
Connective tissue disorder
MATN3-related disorder
Multiple epiphyseal dysplasia
Osteoarthritis susceptibility 2
Spondyloepimetaphyseal dysplasia
matrilin-3 type
Key Variants
RS138400723
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1401043626
Conflicting classifications of pathogenicity
Multiple epiphyseal dysplasia type 5, Multiple epiphyseal dysplasia type 5
Health Risk
RS1422262650
Conflicting classifications of pathogenicity
Multiple epiphyseal dysplasia type 5, Multiple epiphyseal dysplasia type 5
Health Risk
RS1673092558
Conflicting classifications of pathogenicity
Multiple epiphyseal dysplasia type 5, Multiple epiphyseal dysplasia type 5
Health Risk
RS182164052
Conflicting classifications of pathogenicity
Multiple epiphyseal dysplasia type 5, Multiple epiphyseal dysplasia type 5
Health Risk
RS201458413
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS201563567
Conflicting classifications of pathogenicity
Multiple epiphyseal dysplasia type 5, Multiple epiphyseal dysplasia type 5
Health Risk
RS201755444
Conflicting classifications of pathogenicity
Multiple epiphyseal dysplasia type 5, Connective tissue disorder, MATN3-related disorder
Health Risk
RS563628955
Conflicting classifications of pathogenicity
Multiple epiphyseal dysplasia type 5, Inborn genetic diseases, Multiple epiphyseal dysplasia type 5
Health Risk
RS571353547
Conflicting classifications of pathogenicity
Connective tissue disorder, Connective tissue disorder
Health Risk
RS573907581
Conflicting classifications of pathogenicity
Multiple epiphyseal dysplasia type 5, Inborn genetic diseases, Multiple epiphyseal dysplasia type 5
Health Risk
RS745766346
Conflicting classifications of pathogenicity
Multiple epiphyseal dysplasia type 5, Multiple epiphyseal dysplasia type 5
Health Risk
All Variants (28)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS138400723 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1401043626 | Health Risk | Conflicting classifications of pathogenicity | Multiple epiphyseal dysplasia type 5, Multiple epiphyseal dysplasia type 5 |
| RS1422262650 | Health Risk | Conflicting classifications of pathogenicity | Multiple epiphyseal dysplasia type 5, Multiple epiphyseal dysplasia type 5 |
| RS1673092558 | Health Risk | Conflicting classifications of pathogenicity | Multiple epiphyseal dysplasia type 5, Multiple epiphyseal dysplasia type 5 |
| RS182164052 | Health Risk | Conflicting classifications of pathogenicity | Multiple epiphyseal dysplasia type 5, Multiple epiphyseal dysplasia type 5 |
| RS201458413 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS201563567 | Health Risk | Conflicting classifications of pathogenicity | Multiple epiphyseal dysplasia type 5, Multiple epiphyseal dysplasia type 5 |
| RS201755444 | Health Risk | Conflicting classifications of pathogenicity | Multiple epiphyseal dysplasia type 5, Connective tissue disorder, MATN3-related disorder |
| RS563628955 | Health Risk | Conflicting classifications of pathogenicity | Multiple epiphyseal dysplasia type 5, Inborn genetic diseases, Multiple epiphyseal dysplasia type 5 |
| RS571353547 | Health Risk | Conflicting classifications of pathogenicity | Connective tissue disorder, Connective tissue disorder |
| RS573907581 | Health Risk | Conflicting classifications of pathogenicity | Multiple epiphyseal dysplasia type 5, Inborn genetic diseases, Multiple epiphyseal dysplasia type 5 |
| RS745766346 | Health Risk | Conflicting classifications of pathogenicity | Multiple epiphyseal dysplasia type 5, Multiple epiphyseal dysplasia type 5 |
| RS753889985 | Health Risk | Conflicting classifications of pathogenicity | Multiple epiphyseal dysplasia type 5, Multiple epiphyseal dysplasia type 5 |
| RS760753512 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS773883750 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS774204299 | Health Risk | Conflicting classifications of pathogenicity | Multiple epiphyseal dysplasia type 5, Inborn genetic diseases, Multiple epiphyseal dysplasia type 5 |
| RS886043710 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS993108436 | Health Risk | Conflicting classifications of pathogenicity | Multiple epiphyseal dysplasia type 5, Multiple epiphyseal dysplasia type 5 |
| RS996766896 | Health Risk | Conflicting classifications of pathogenicity | Multiple epiphyseal dysplasia type 5, Multiple epiphyseal dysplasia type 5 |
| RS1673102663 | Health Risk | Likely pathogenic | Multiple epiphyseal dysplasia type 5, Multiple epiphyseal dysplasia type 5 |
| RS2103484088 | Health Risk | Likely pathogenic | Multiple epiphyseal dysplasia, Multiple epiphyseal dysplasia |
| RS749515743 | Health Risk | Likely pathogenic | Osteoarthritis susceptibility 2, Osteoarthritis susceptibility 2 |
| RS104893639 | Health Risk | Pathogenic | Spondyloepimetaphyseal dysplasia, matrilin-3 type, Spondyloepimetaphyseal dysplasia |
| RS104893641 | Health Risk | Pathogenic | Multiple epiphyseal dysplasia type 5, Multiple epiphyseal dysplasia type 5 |
| RS104893645 | Health Risk | Pathogenic | Multiple epiphyseal dysplasia type 5, Multiple epiphyseal dysplasia, Multiple epiphyseal dysplasia type 5 |
| RS28939677 | Health Risk | Pathogenic | Multiple epiphyseal dysplasia type 5, Multiple epiphyseal dysplasia, Multiple epiphyseal dysplasia type 5 |
| RS104893637 | Health Risk | Pathogenic/Likely pathogenic | Multiple epiphyseal dysplasia type 5, Multiple epiphyseal dysplasia, Spondyloepimetaphyseal dysplasia |
| RS397515546 | Health Risk | Pathogenic/Likely pathogenic | Multiple epiphyseal dysplasia type 5, Spondyloepimetaphyseal dysplasia, matrilin-3 type |