Homo sapiens Gene: MATN3
Summary
InnateDB Gene IDBG-32045.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol MATN3
Gene Name matrilin 3
Synonyms DIPOA; EDM5; HOA; OADIP; OS2
Species Homo sapiens
Ensembl Gene ENSG00000132031
Encoded Proteins
matrilin 3
matrilin 3
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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 Information
Type Protein coding
Genomic Location Chromosome 2:19992111-20012694
Strand Reverse strand
Band p24.1
Transcripts
ENST00000407540 ENSP00000383894
ENST00000421259 ENSP00000398753
ENST00000478482
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.
Experimentally validated
Total 3 [view]
Protein-Protein 3 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005201 extracellular matrix structural constituent
GO:0005509 calcium ion binding
GO:0005515 protein binding
Biological Process
GO:0001501 skeletal system development
GO:0030198 extracellular matrix organization
Cellular Component
GO:0005576 extracellular region
GO:0005578 proteinaceous extracellular matrix
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
REACTOME
Extracellular matrix organization pathway
ECM proteoglycans pathway
KEGG
INOH
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.614591 Hs.656199
RefSeq NM_002381
HUGO
OMIM
CCDS CCDS46226
HPRD 03661
IMGT
EMBL
GenPept
RNA Seq Atlas