MATN3
Sign in to saveAlso known as DIPOA, EDM5, HOA, OADIP, OS2, matrilin 3, SEMDBCD
Matrilin-3 is a protein that in humans is encoded by the MATN3 gene. It is linked to the development of many types of cartilage, and part of the Matrilin family, which includes Matrilin-1, Matrilin-2, Matrilin-3, and Matrilin-4, a family of filamentous-forming adapter oligomeric extracellular proteins that are linked to the formation of cartilage and bone, as well as maintaining homeostasis after development. It is considered an extracellular matrix protein that functions as an adapter protein where the Matrilin-3 subunit can form both homo-tetramers and hetero-oligomers with subunits from Mat
Gene data
MATN3- Name
- matrilin 3
- Type
- protein-coding
- Position
- 19,992,052–20,012,824 (−)
- Aliases
- DIPOA, EDM5, HOA, OADIP, OS2, SEMDBCD
- Ensembl
- ENSG00000132031
- RefSeq RNA
- NM_002381.5
- RefSeq protein
- NP_002372.1
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 Ontology
Biological process
Pathways
via MyGene.info
Gene · Ensembl
matrilin 3
- Symbol
- MATN3
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 2:19,992,052-20,012,824
- Strand
- Reverse (−)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
- Instance of
- gene
Show 9 more facts
- HomoloGene ID
- 1785
- genomic start
- 20191872
- found in taxon
- Homo sapiens
- exact match
- identifiers.org/ncbigene/4148
- genomic end
- 20012668
- chromosome
- human chromosome 2
- cytogenetic location
- 2p24.1
- genetic association
- Heberden's node
- expressed in
- amygdala
Sources (3)
via Wikidata · CC0
~7 min read
Encyclopedic overview
7 sectionsContents
- Function of Matrilin-3
- Structure
- Correlation to disease
- Conclusion
- References
- External links
- Further reading
Matrilin-3 is a protein that in humans is encoded by the MATN3 gene. It is linked to the development of many types of cartilage, and part of the Matrilin family, which includes Matrilin-1, Matrilin-2, Matrilin-3, and Matrilin-4, a family of filamentous-forming adapter oligomeric extracellular proteins that are linked to the formation of cartilage and bone, as well as maintaining homeostasis after development. It is considered an extracellular matrix protein that functions as an adapter protein where the Matrilin-3 subunit can form both homo-tetramers and hetero-oligomers with subunits from Matrilin-1 which is the cartilage matrix protein. This restricted tissue has been strongly expressed in growing skeletal tissue as well as cartilage and bone.
Each member of the Matrilin family consist of one or two Von Willebrand Factor A (vWFA) domains, several epidermal growth factor (EGF)- like domains, and an alpha-helical coiled-coil domain. Matrilin-3 does not contain the second vWFA -like domain that is present in the rest of the members of the Matrilin family. It is considered the shortest and least complex member of the family, consisting of only one Von Willebrand Factor A domain, four epidermal growth factor domains, and a C-terminal coiled-coil domain. The Matrilin-3 protein is considered a multimeric protein that can form bonds to triple helix collagens, decorin and biglycan, as it plays an important role as a linker molecule in the formation of the articular cartilage network. thumb
Excerpted from Wikipedia’s “MATN3” article, available under the CC BY-SA 4.0 licence.