MATN3

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]

Description

Matrilin 3

Tissue specificity

Tissue enhanced (lung, placenta)

Subcell location

Endoplasmic reticulum, Golgi apparatus

Predicted location

Secreted to extracellular matrix

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted secreted proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

2 (19992052 - 20012668)

Ensembl ID

ENSG00000132031  (ver. 103.38)

Orthologs

Mouse Matn3: ENSMUSG00000020583

UniProt

O15232

neXtProt

NX_O15232

Human splice variants
Mouse splice variants

Protein structure